EDITOR MANAGING EDITOR Peter H. Byers, M.D. Roberta Wilkes University of Washington University of Washington School of Medicine Seattle, WA Seattle, WA ASSOCIATE EDITORS Ranajit Chakraborty, Ph.D. Roderick R. McInnes, M.D., Stephen T. Warren, Ph.D. University of Texas Health Ph.D. Emory University School of Sciences Center The Hospital for Sick Children Medicine Houston, TX Toronto, Ontario Atlanta, GA Terry J. Hassold, Ph.D. Jeffrey C. Murray, M.D. Bruce S. Weir, Ph.D. Case Western Reserve University University of Iowa Hospitals North Carolina State University Cleveland, OH Iowa City, IA Raleigh, NC Lynn Jorde, Ph.D. Richard M. Pauli, M.D., Ph.D. Barry Wolf, M.D., Ph.D. University of Utah University of Wisconsin Medical College of Virginia School of Medicine Madison, WI Richmond, VA Salt Lake City, UT Barbara J. Trask, Ph.D. Ronald G. Worton, Ph.D. Mary-Claire King, Ph.D. University of Washington The Hospital for Sick Children University of Seattle, WA Toronto, Ontario Berkeley, CA

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EMPLOYMENT OPPORTUNITIES Medicine, Emory University School of Medicine, is seek- ing faculty in the fields of quantitative genetics and genetic Faculty Positions in Human Genetics and Gene Ther- epidemiology. The department has special interest in indi- apy.-The Department of Genetics and Molecular Medi- viduals with experience in human population genetics, the cine, Emory University School of Medicine, is seeking quantitative relationships between genetic and environ- M.D. or Ph.D. faculty interested in the molecular basis and mental factors in human disease, and/or the development treatment of human disease. Areas of special interests in- and application of statistical tools in human genetics. The clude novel genetic mechanisms of disease, such as multi- current department faculty interests in related areas in- factorial inheritance, imprinting, genomic instability, and clude gene mapping through linkage analysis; delineation new approaches to treatment, including gene therapy. Cur- of genetic mechanisms of complex disorders, including rent department faculty interests include inborn errors of non-Mendelian inheritance; studies of inborn errors of metabolism, quantitative and population genetics, origins metabolism; mechanisms of chromosomal abnormalities; and mechanisms for chromosomal abnormalities, mito- the population genetics and evolution of the mitochon- chondrial genetics, mammalian germ-cell development, drial genome; and studies of developmental genetics, using development of mouse models of disease, and gene ther- mouse models. In addition to developing an active and apy. Most appointments will be at the assistant-professor competitive research program, the successful candidate level, although more-senior individuals will also be consid- will be expected to participate in the teaching of medical ered at their appropriate rank. In addition to developing and graduate students. Newly renovated office and labora- an active and competitive research program, the successful tory space within the department is available as part of candidate will be expected to participate in teaching of the expanding biomedical research programs on campus. medical and graduate students. Newly renovated office Interactions with the School of Public Health at Emory and laboratory space within the department is available as and the Centers for Disease Control and Prevention pro- part of the expanding biomedical research programs on vide exciting research opportunities. Candidates should campus. Candidates should send their curriculum vitae, send their curriculum vitae, their research goals, and names their research goals, and the names of three references to of three references to Stephanie L. Sherman, Ph.D.; and Dean J. Danner, Ph.D.; and Douglas C. Wallace, Ph.D., Douglas C. Wallace, Ph.D., Department of Genetics and Department of Genetics and Molecular Medicine, 1462 Molecular Medicine, 1462 Clifton Road, N.E., Emory Clifton Road, N.E. Room 429C, Emory University School School of Medicine, Atlanta, GA 30322. Emory University of Medicine, Atlanta, GA 30322. Emory University is an is an Equal Opportunity Employer. Equal Opportunity Employer.

Faculty Members in Quantitative Genetics and Genetic Ep- Director of Molecular Hematology.-The Department of idemiology.-The Department of Genetics and Molecular Human Genetics of the Allegheny-Singer Research Insti- tute (ASRI) in Pittsburgh is establishing a major research focus in the molecular of human hematologic dis- 1. Announcements are published free of charge for members of The Amer- orders. The director will be an accomplished investigator ican Society of Human Genetics (ASHG). Please mail announcements to The who will build a new program capable of addressing etiol- American Journal of Human Genetics, Department of Pathology, SM-30, Uni- versity of Washington, Seattle, WA 98195, or fax them to (206) 685-9684. ogy, pathogenesis, epidemiology, and treatment. Substan- Submission must be received 3 full months before the month of issue in which tial internal funding, including an endowment, is identi- publication is requested. They must be double spaced with a 1/2-inch margin fied. Newly built and equipped laboratory space within the on all sides. The maximum length is 150 words, excluding the address for correspondence. Please include a cover letter indicating the name of the spon- Department of Human Genetics will house this program. soring ASHG member. The laboratory will have close interactions with the On- 1288 Announcements 1289 cology Center and the Hematology Division of the Alle- CALLS FOR PATIENTS gheny General Hospital and with the affiliated institutions of the Allegheny Health, Education and Research Foun- Mutation Analysis in Essential Fructosuria.-Investigators dation. The academic appointment will be in the Medical who have recently described mutations of the human ke- College of Pennsylvania and Hahnemann University. The tohexokinase gene in essential fructosuria are interested in director will be expected to train graduate students in the expanding the mutational analysis to other families. Con- interdepartmental molecular and cell biology program. In- tact David Bonthron, Human Genetics Unit, Western dividuals who are interested should send a statement of General Hospital, EH4 2XU, ; interest, current research program and funding, and cur- phone 44-31-332 7917; fax 44-31-343 1863; or Beat Stein- riculum vitae to Dr. Reed Pyeritz at ASRI, 320 East North mann, University Children's Hospital, Steinwiesstrasse 75, Avenue, Pittsburgh, PA 15212; phone (412) 359-6388; fax 8032 Zurich, Switzerland; phone 41-1-266 7111; fax 41-1- (412) 359-6488. ASRI is an Equal Opportunity employer. 266 7167.

Osteopetrosis.-Researchers at The University of Ant- werp are seeking the genetic causes of . They Research Scientists in the Molecular Biology ofCardiovas- are interested in patients available for DNA analysis. Con- cular Diseases.-The Department of Human Genetics of tact Wim Van Hul, Department of , Uni- the Allegheny-Singer Research Institute (ASRI) in Pitts- versity of Antwerp, Universiteitsplein 1, 2610 Antwerp, burgh has established a research group working on genetic Belgium; phone 32-3-820 2585; fax 32-3-820 2566. factors in cardiovascular disease. This program is part of a multidisciplinary focus on cardiovascular biology and pa- Senior-Leken Syndrome.-Researchers at the University thology at ASRI, the Allegheny General Hospital, and the Children's Hospital in Freiburg, Germany, are seeking to Allegheny Health, Education and Research Foundation. med- Facilities include a genetic core facility, a transgenic rodent map a gene for the Senior-Leken syndrome (recessive clin- ullary cystic disease of the kidney with retinitis pigmen- program, large animal facilities and operating rooms, tosa) and are interested in receiving blood samples of fam- ical genetics laboratories, state-of-the-art imaging capabil- ilies affected with this disorder, especially families with at ities, and new laboratory space. Investigators teach in the least two affected members. Contact Dr. Friedhelm Hilde- graduate programs of the Medical College of Pennsylvania brandt, University Children's Hospital, Mathildenstrasse and Hahnemann University and serve as mentors for grad- 1, D-79106 Freiburg, Germany; phone 49-761-270 4301; uate students in interdepartmental programs. We are re- fax 49-761-270 4481. cruiting investigators with active research programs in identification of human and animal genes important in the cause and the pathogenesis of rare and common cardio- CELL REPOSITORY vascular diseases, creation and analysis of transgenic ani- mal models of human cardiovascular diseases, embryogen- CEPH Reference Families, CHLC and Genhthon Sub- esis and morphogenesis of the cardiovascular system, and sets.-The National Institute of General Medical Sci- gene therapy of cardiac and vascular diseases. Individuals ences' Human Genetic Mutant Cell Repository has avail- who are interested should send a statement of interest, able for distribution lymphoblastoid cell lines representing current research program and funding, and curriculum vi- the 8 CEPH reference families in the Genethon subset and tae to Dr. Reed Pyeritz at ASRI, 320 East North Avenue, the 15 CEPH reference families in the CHLC (Cooperative Pittsburgh, PA 15212; phone (412) 359-6388; fax (412) Human Linkage Center) subset. Family relationships have 359-6488. ASRI is an Equal Opportunity employer. been verified by Southern blot analysis by the Coriell Cell Repositories and have been reviewed and approved for dis- tribution by CEPH, Fondation Jean Dausset. Information POSTGRADUATE COURSE about these cultures and additional CEPH reference fami- lies is available via Internet. Telnet to coriell.umdnj.edu. Postgraduate Course on Human Teratogens: "Environ- At the login prompt, type: online. To access the catalog via mental Factors Which Cause Birth Defects".-To be held modem, dial 609-757-9728. For additional information or April 23-25, 1995, at Massachusetts General Hospital, un- a repository catalog, contact the NIGMS Human Genetic der the direction of Dr. Lewis B. Holmes. Cost is $450 for Mutant Cell Repository, Coriell Cell Repositories, Coriell physicians and scientists, $275 for genetic counselors and Institute for Medical Research, 401 Haddon Avenue, nurses. For more information, contact Harvard Medical Camden, NJ 08103; phone (800) 752-3805 in the United School Department of Continuing Education; phone (617) States, (609) 757-4848 from other countries; fax (609) 757- 432-1525. 9737. Editorial Reviewers

The editorial staff of The American Journal of Human Genetics would like to thank the following scientists for their invaluable assistance in reviewing manuscripts from July 1, 1993 through June 30, 1994. Agre, Peter Brown, W. Ted Conte, Felix Altherr, Michael R. Bruckner-Tuderman, Leena Cooke, Howard Amos, Christopher I. Bryant, Eileen Cotton, Richard G.H. Andrews, Lori B. Brzustowicz, Linda M. Cox, Nancy Antonarakis, Stylianos E. Buchwald, Manuel Crow, James F. Applegarth, Derek A. Buetow, Kenneth H. Cunningham, George Aronowitz, Robert A. Bundey, Sarah Cutting, Garry R. Atchley, William R. Burchell, Brian Attardi, Guiseppe Burghes, Arthur H.M. Dahl, Henrik H.M. Aubourg, Patrick Burke, Wylie Daiger, Stephen P. Austin, Melissa Burns, Trudy Danner, Dean J. Axelsen, Paul H. Byerley, William Davies, Kay E. Davies, Sarah Bailey-Wilson, Joan Callen, David F. Dean, Michael Bale, Allen E. Cann, Rebecca L. Deeb, Samir Ballabio, Andrea Cannings, C. DeGroot, Leslie J. Barranger, John A. Cao, Antonio Deininger, Prescott Bassett, Anne S. Carey, John C. Demenais, Florence M. Bateman, J. Bronwyn Carlin, Mary E. Desnick, Robert J. Beaty, Terri H. Caskey, C. Tom Devlin, Bernie Beaudet, Arthur L. Cassidy, Suzanne B. Devor, Eric J. Bell, Graeme I. Cavalli-Sforza, L.L. Diehl, Scott R. Bell, John I. Cavenee, Webster K. Dietz, Harry Belmont, John W. Cederbaum, Stephen D. DiMauro, Salvatore Berg, Kare Chakraborty, Ranajit Ding, Jiahuan Bernharcd*, Barbara A. Chakravarti, Aravinda Disteche, Christine Beutler, Ernest Chamberlain, Jeffrey S. Driscoll, Daniel J. Bichet, Daniel Chance, Phillip F. Duyk, Geoff Bird, Thomas D. Chapman, Marguerite Birnbaumer, Mariel Chen, Yuan-Tsong Easton, Douglas Bishop, Timothy Chenevix-Trench, Georgia Eaves, Lindon J. Bixler, David Chitayat, David Ebers, George C. Blangero, John Chudley, Albert E. Edwards, John H. Blanton, Susan Clark, David A. Elsas, Louis J. Blennow, Elisabeth Cleary, Michael Elston, Robert Blumenthal, Malcolm N. Cleaver, James E. Epstein, Charles J. Bobrow, Martin Clerget-Darpoux, Francoise Epstein, Ervin H. Boehnke, Michael Codori, Ann-Marie Erickson, Robert Boerwinkle, Eric Cohen, Joel E. Estivill, Xavier Bonney, George Cohen, Jonathan Evans, James P. Bowcock, Anne Cohen, M. Michael Evans, Jane Boyd, Jeffrey Cohen, Maimon M. Excoffier, Laurent Breakefield, Xandra 0. Cohn, Daniel H. Eyre, David R. Brock, David J. H. Cole, William Brodeur, Garrett M. Collins, Francis Fain, Pamela R. Brody, Larry C. Comings, David E. Falk, Catherine Brothman, Arthur R. Concannon, Patrick Farrall, Martin Brown, John Conley, Mary Ellen Farrer, Lindsay A. Brown, Michael Conneally, P. Michael Ferrell, Robert E. 1290 Editorial Reviewers 1291 Field, L. Leigh Hall, Judith G. Khoury, Muin J. Fleischman, Roger A. Haller, Ronald G. Khurana, Tejvir Singh Fleisher, Lynn D. Hamosh, Ada Kidd, Kenneth K. Folstein, Susan Hansen, John A. Kilimann, Manfred W. Fost, Norman Harding, Anita E. Kimberling, William J. Francke, Uta Harley, Calvin B. King, Mary-Claire Francomano, Clair A. Hartl, Daniel King, Richard A. Fraser, F. Clarke Hassold, Terry J. Klinger, Katherine W. Friedman, J. M. Hasstedt, Sandra J. Klitz, William Friedman, Lori Hayden, Michael R. Knoll, Joan H.M. Frischauf, Anna-Marie Hearing, Vincent Knowlton, Robert G. Fuchs, Elaine Hecht, Jacqueline T. Kolodner, Richard D. Fujimoto, Atsuko Hedrick, Philip W. Kong, Augustine Heitmancik, J. Fielding Korenberg, Julie R. Gahl, William Hillman, Richard E. Korf, Bruce Gallie, Brenda L. Hirschhorn, Rochelle Kraemer, Kenneth Gardiner, Kathleen Hixson, James E. Krane, Stephen M. Gartler, Stanley Hodge, Susan E. Kreitman, Martin Gelernter, Joel Hoffman, Eric Kurnit, David M. Geraghty, Daniel E. Holmes, Edward Geraghty, Michael T. Holmquist, Gerald P. La Du, Bert N. German, James Hook, Ernest B. Laird, Charles Germino, Gregory G. Hopper, John L. Lalande, Marc Gershon, Elliot S. Horai, Satoshi Lalouel, Jean-Marc Gill, Gordon N. Horton, William A. Lange, Kenneth Gilliam, T. Conrad Horwich, Arthur L. Langley, Charles H. Gitschier, Jane Howell, Neil Laxova, Renata Glaser, Thomas Hudgins, Louanne Ledbetter, David H. Glover, Thomas W. Hudson, Lynn D. Leppig, Kathleen A. Go, Rodney C. P. Huff, Vicki Lewis, Cathryn Godfrey, Maurice Humphries, Peter Lewis, Richard A. Godwin, Andrew Humphries, Steve E. Liang, Jan C. Golbus, Mitchell Hunt, Steven C. Liebhaber, Steve Goldberg, Rosalie Hurko, Orest Lin, Shili Goldgar, David Litt, Michael Goldin, Lynn R. Jackson, Laird Lupski, James R. Goodfellow, Paul J. Jarvik, Gail Luthy, David Goodfellow, Peter N. Jenkins, Trefor Lynch, Eric Goodman, Stephen I. Jodice, Carla Lyttle, Terrence W. Goossens, Michel Johns, Donald R. Gorlin, Robert J. Johnson, Keith J. McBride, 0. Wesley Gorski, Jerome Jorde, Lynn B. McCabe, Edward R.B. Gottesman, Irving I. MacCluer, Jean W. Grabowski, Gregory A. Kaback, Michael M. McDermid, Heather E. Gravel, Roy Kalousek, Dagmar K. McDonagh, Antony Greenberg, Charles Kammerer, Candace M. MacDonald, Marcy Greenberg, Cheryl R. Kay, Mark McGillivray, Barbara C. Griggs, Robert C. Kazazian, Haig H. McInnes, Roderick R. Grompe, Markus Kearney, Lyndal McInnis, Melvin Gruen, Jeffrey R. Keating, Mark McIntosh, lain Guo, Sun-Wei Keats, Bronya MacLean, Charles J. Gusella, James F. Kendler, Kenneth S. Magenis, Ellen Guttler, Flemming Kennaway, Nancy G. Mahley, Robert W. Kennedy, James L. Malcolm, Susan Haines, Jonathan L. Kessling, Anna M. Maquat, Lynne E. 1292 Editorial Reviewers Marazita, Mary Osborne, William Roses, Alan D. Marsh, David G. Ott, Jurg Rozen, Rima Martin, Renee Owerbach, David Rouleau, Guy A. Martinez, Maria Rousseau, Francois Matalon, Reuben Paabo, Svante Rowley, Janet Matise, Tara Cox Packman, Seymour Roy-Chowdhury, J. Melki, Judith Pagon, Roberta A. Russell, David W. Melnick, Michael Palmer, Catherine G. Mentzer, William Park, Vicki M. Sadovnick, A. Dessa Merriwether, D. Andrew Patel, Mulchand Saiki, Randall K. Meyers, Deborah A. Patel, Pragna I. St George-Hyslop, P.H. Milewicz, Dianna M. Pauli, Richard M. Sapienza, Carmen Milner, Eric Payami, Haydeh Schaid, Daniel J. Minnich, Anne Pearson, William R. Scheck, Barry Mitchell, Grant Peltonen, Leena Schellenberg, Gerald Mohandas, T. K. Peral, Belen Schimke, R. Neil Morgan, Kenneth Pericak-Vance, Margaret Schinzel, Albert Morin, Gregory Petersen, Gloria Schnur, Rhonda Morris, Jeff Petersen, Michael B. Schon, Eric A. Morton, Cynthia C. Petronis, Arturas Schork, Nicholas J. Moser, Hugo W. Petty, Elizabeth M. Schroeder, Harry W. Motulsky, Arno Peyser, Patricia Schuchman, Edward Mountain, Joanna L. Pinsky, Leonard Schull, William J. Mudd, S. Harvey 1'lotz, Paul H. Schwartz, Stuart Muenke, Max Polich, John Scott, C. Ronald Munnich, Arnold Ponder, Bruce A.J. Scriver, Charles Murray, Jeffrey C. Poulton, Joanna Seidman, Christine Priest, Jean H. Seidman, Jonathan G. Nagel, Ronald Puck, Jennifer Shaffer, Lisa G. Nance, Martha Pulver, Ann E. Shanske, Sara Nance, Walter E. Pyeritz, Reed Shaw, Margery W. Narod, Steve Shay, Jerry Natowicz, Marvin Quaid, Kimberly A. Sheehan, Nuala Naylor, Edwin Sheffield, Val Nelson, David Ramirez, Francesco Sherman, Stephanie L. Nepom, Gerald Raskind, Wendy Shields, Gerald F. Nepom, Barbara Ray, Peter N. Shoffner, John Nepom, Gerald Read, Andrew Shoubridge, Eric Neri, Giovanni Rebbeck, Timothy Simpson, Nancy E. Neufeld, Elizabeth F. Reeders, Stephen Skolnik, Mark H. Nicholls, Robert D. Reeves, Roger Sly, William S. Nickerson, Deborah Reilly, Philip R. Smith, Stevens S. Nikoskelainen, Eeva Rhead, William J. Sokal, Robert R. Nissley, Peter Riccardi, Vincent M. Somlo, Stefan Nussbaum, Robert L. Rice, Treva Kay Sommer, Steve S. Nyhan, William L. Rich, Stephen S. Sparkes, Robert Richards, Julia E. Speed, Terry O'Brien, William E. Rieder, Ronald Spence, M. Anne O'Connell, Peter Risch, Neil J. Spielman, Richard Olsen, Bjorn R. Roberts, Roland G. Spritz, Richard Olson, Jane M. Robinson, Wendy P. Spurr, Nigel Oostra, Ben A. Robinson, Brian H. Stamatoyannopoulos, George Oparil, Suzanne Rogers, Alan Stephens, Karen Orkin, Stuart H. Rommens, Johanna Stoll, Claude Orr, Harry T. Rosenfeld, Michael G. Stoneking, Mark Editorial Reviewers 1293 Strachan, Tom Triggs-Raine, Barbara Weir, Bruce S. Strauss, Arnold W. Tsipouras, Petros Weiss, Kenneth M. Striker, Gary E. Tsui, Lap-Chee Weissenbach, Jean Strom, Charles M. Tsuji, Shoji Weksberg, Rosanna Strong, Louise C. Tuchman, Mendel Wenger, David A. Sutherland, Grant R. Wenstrup, Richard J. Swallow, Dallas Valle, David Whyte, Michael P. Sweetman, Lawrence A. van Oost, Bernard A. Wieringa, Be Sybert, Virginia P. Van Dyke, Daniel Wight, Thomas N. Sykes, Bryan C. Van Eerdewegh, Paul Wijsman, Ellen M. Szathmary, Emoke Vance, Jeffrey Willard, Huntington F. Verma, Ram S. Williams, Charlene J. Tait, Brian Vigilant, Linda Williamson, Robert Tait, Jonathan Vogler, George P. Wilson, Golder N. Tanaka, Kay Winter, Robin M. Tanzi, Rudi Wakeland, Edward K. Wolf, Barry Taylor, Simeon Wald, Nicholas Woo, Savio L. Terwilliger, Joseph D. Warburton, Dorothy Worton, Ronald G. Thibodeau, Stephen N. Warren, Stephen T. Wyrobek, Andrew J. Thomas, Duncan Weber, Barbara Yamada, Yoshihiko Thompson, Elizabeth Weber, James L. Yandell, David W. Thomson, Glenys J. Weedn, Victor Young, Steve G. Tonnesen, Tonne Weeks, Daniel E. Torroni, Antonio Weiffenbach, Barbara Zackai, Elaine H. Trask, Barbara J. Weinstein, Lee S. Zoghbi, Huda Y. Books Received July I, 1993 through August 31, 1994 but Not Reviewed

Advances in Human Genetics. By Harry Harris and Kurt Conceptual History of Modern Embryology, A. By Scott Hirschhorn. New York: Plenum Publishing Corp., F. Gilbert. Baltimore: Johns Hopkins University Press, 1993. Pp. 465. $89.50. 1994. Pp. 266. Advances in Ophthalmic Genetics and Heritable Eye Dis- Connective Tissue Diseases ofthe Skin. Edited by Charles eases. Edited by Frederick A. Jakobiec and Jeffrey C. M. Lapiere and Thomas Kried. New York: Marcel Dek- Lamkin. Boston: Little, Brown & Co.,1993. Pp.289. ker, Inc., 1993. Pp. 408. $150.00. Animals and Alternatives in Testing. By Joanne Zurlo, Current Directions in Insulin-Like Growth Factor Re- Deborah Rudacille, and Alan M. Goldber. New York: search. Edited by Derek LeRoith and Mohan K. Rai- Mary Ann Liebert, Inc., 1994. Pp. 86. zada. New York: Plenum Publishing Corp., 1993. Pp. 417. $110.00. Biotechnology from A to Z. By William Bains. New York: Oxford University Press, 1993. Pp. 358. Cytogenetic Symposia, The. Edited by Barbara J. Kaplan and Kathleen S. Dale. Burbank, CA: The Association of Blastogenesis: Normal and Abnormal. Edited by John M. Cytogenetic Technologists, 1994. $65.00 Opitz and Natalie W. Paul. New York: John Wiley & Sons, 1993. Pp. 403. DNA and Chromosomes. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1994. Pp. 861. Cell Adhesion Molecules: Cellular Recognition Mecha- $210.00. nisms. By Martin E. Hemler and Enrico Mihich. New York: Plenum Publishing Corp., 1993. Pp. 294. $89.50. Emerging Viruses. By Stephen S. Morse. New York: Ox- ford University Press, 1993. Pp. 317. $39.95. Chromosome, The. Edited by J. S. Heslop-Harrison and R. B. Flavell. Oxford: BIOS Scientific Publishers Ltd., Eukaryotic Genome, The. By Paul Broda, Stephen G. Oli- 1993. Pp. 282. $99.00. ver, and Paul F. G. Sims. New York: Cambridge Univer- sity Press, 1993. Pp. 395. $120.00. Chromosome Analysis Protocols. Edited by John R. Gos- den. Totowa, NJ: Humana Press, 1994. Pp. 508. Evolution of Infectious Disease. By Paul W. Ewald. New York: Oxford University Press, 1994. Pp. 298. $35.00. Chromosomes: A Synthesis. By Robert P. Wagner, Marjo- rie P. Maguire, and Raymond L. Stallings. New York: Experimental and Theoretical Advances in Biological Pat- Wiley-Liss, 1993. Pp. 523. $89.00. tern Formation. Edited by Hans G. Othmer, Philip K. Maini, and James D. Murray. New York: Plenum Pub- Computational Methods in Genome Research. By Sandor lishing Corp., 1993. Pp. 388. $115.00. Suhai. New York: Plenum Publishing Corp., 1994. Pp. 227. $95.00. Facts on File Dictionary ofBiotechnology and Genetic En- gineering, The. By Mark L. Steinberg and Sharon D. Cos- Computer Analysis of Sequence Data, Part 1. Edited by loy. New York: Facts on 1994. Pp. 200. Annette M. Griffin and Hugh G. Griffin. Totowa, NJ: File, Humana Press, 1994. Pp. 372. Gene and Chromosome Analysis, Part A. By Kenneth W. Computer Analysis of Sequence Data, Part II. Edited by Adolph. San Diego: Academic Press, Inc., 1993. Pp. 404. Annette M. Griffin and Hugh G. Griffin. Totowa, NJ: Humana Press, 1994. Pp. 433. Gene Regulation in Eukaryotes. By Edgar Wingender. New York: VCH Publishers, Inc., 1993. Pp. 430. $120.00. Concepts of Genetics. By William S. Klug and Michael R. Cummings. New York: Macmillan Publishing Co., Gene Targeting. By Alexandra L. Joyner. New York: Ox- 1991.Pp.300. ford University Press, 1993. Pp. 234. $52.00. 1294 Books Received 1295 Gene Transcription: A Practical Approach. By B. David Intractable Neurological Disorders, Human Genome Re- Hames and Stephen J. Higgins. New York: Oxford Uni- search & Society. Edited by Norio Fujiki and Darryl versity Press, 1993. Pp. 364. $60.00. R. J. Macer. Christchurch, New Zealand: Eubios Ethics Institute, 1994. Pp. 316. Genes V. By Benjamin Lewin. New York: Oxford Univer- sity Press, 1994. Pp. 1272. $65.00. Introduction to Molecular Cloning Techniques. By Gerard Lucotte and Francois Christian Baneyx. New York: Genetic Maps, 6th ed. Book 1, Viruses; Book 2, Bacteria; VCH Publishers, 1993. Pp. 298. $49.00. Book 3, Lower Eukaryotes; Book 4, Nonhuman Verte- brates; Book 5, Human Maps; Book 6, Plants. By Ste- Methodology for Genetic Studies of Twins and Families. phen J. O'Brien. Plainview, NY: Cold Spring Harbor By Michael C. Neale. Dordrecht: Kluwer Academic Laboratory Press, 1993. Publishers, 1992. Pp. 496. Genetics ofAsthma, The. By David G. Marsh, Alain Lock- Molecular Aspects of Enzyme Catalysis. Edited by T. Fu- hart, and Stephen T. Holgate. : Blackwell Scien- kui and K. Soda. Deerfield Beach, FL: VCH Publishers, tific Publications, 1993. Pp. 343. $27.95. 1994. Pp. 244. $120.00. Genetics: A Blueprint of Life. By Sandhya Mitra. New Molecular Microbiology Techniques, part A. Edited by Delhi: Tata McGraw-Hill, 1994. Pp. 1052. Rs 265.50. Kenneth W. Adolph. New York: Academic Press, Har- court Brace & Co., 1994. Pp. 398. $85.00. Genetics of Cellular, Individual, Family, and Population Variability. Edited by Charles F. Sing and Craig L. New Genesis: Theology and the Genetic Revolution, The. Hanis. New York: Oxford University Press, 1993. Pp. By Ronald Cole-Turner. Westminster: John Knox Press, 305. $70.00. 1993. Pp. 127. $12.95. Genetics ofColorectal Cancer for Clinical Practice. By Fred Novel Approaches to Selective Treatments ofHuman Solid H. Menko. Dordrecht: Kluwer Academic Publishers, Tumors. By Youcef M. Rustum. New York: Plenum 1993. Pp. 191. $107.00. Publishing Corp., 1993. Pp. 319. $79.50. Growth Hormone Treatment in Down's Syndrome. Edited Other Guy's Sperm, The. By Donald E. Tyler. Ontario, by S. Castells and K. E. Wisniewski. New York: John OR: Discovery Books, 1994. Pp. 131. Wiley & Sons, 1993. Pp. 285. Oxford Surveys in Evolutionary Biology. Vol. 9. Edited by Douglas Futuyma andJanis Antonovics. New York: Ox- Guidebook to the Cytoskeletal and Motor Proteins. Edited ford University Press, 1993. Pp. 413. $85.00. by Thomas Kreis and Ronald Vale. New York: Oxford University Press, 1993. Pp. 276. $75.00. Perspectives in Human Biology. Edited by Neville Bruce, Len Freedman, and Alan Thorne. Nedlands, Australia: Histocompatibility Testing. By Philip Dyer Derek. Middle- Centre for Human Biology, 1993. Pp. 70. ton, NY: Oxford University Press, 1993. Pp. 1047. Perspectives in Pediatric Cardiology. Vol. 4: Epidemiology Human Gene Mapping: A Compendium. Edited by A. of Congenital Heart Disease. By Charlotte Ferencz, Ju- Jamie Cuticchia and Peter L. Pearson. Baltimore: The dith D. Rubin, Christopher A. Loffredo, and Carol A. Johns Hopkins University Press, 1993. Pp. 303. $56.00. Magee. Mount Kisco, NY: Futura Publishing Co., 1993. Pp. 353. $75.00. Human Genome Project: Deciphering the Blueprint ofHe- redity, The. Edited by Necia Grant Cooper. Mill Valley, Phenotypic Mapping ofDown Syndrome and Other Aneu- CA: University Science Books, 1994. Pp. 372. $38.00. ploid Conditions, The. Edited by Charles J. Epstein. New York: John Wiley & Sons, 1993. Pp. 238. Human Population Genetics. By Partha P. Majumder. New York: Plenum Publishing Corp., 1993. Pp. 348. Protein Structure. By N. J. Darby and T. E. Creighton. $85.00. New York: Oxford University Press, 1994. Pp. 460. $24.95. International Programme on Chemical Safety Environmen- tal Health Criteria 150, Benzene. Geneva: World Health Protocols for Nucleic Acid Analysis by Nonradioactive Organization, 1993. Pp. 156. Probes. Edited by Peter G. Issac. Totowa, NJ: Humana 1296 Books Received Press, 1994. Steroid Hormone Action. By M. G. Parker. Two-Dimensional DNA Typing. By Andre G. Uitterlinden New York: Oxford University Press, 1993. Pp. 210. $68. and Jan Vijg. New York: Ellis Horwood (Simon & Schuster Int'l.), 1994. Pp. 197. $77.00. Structural Studies of Protein-Nucleic Acid Interaction. By Thomas A. Steitz. New York: Cambridge University Press, 1993. Pp. 79. Underlying Molecular, Cellular, and Immunological Fac- Transposable Elements and Evolution. By John F. McDon- tors in Cancer and Aging, The. By Stringner Sue Yang ald. Dordrecht: Kluwer Academic Publishers Group, and Huber R. Warner. New York: Plenum Publishing 1993. Pp. 347. $165.00. Corp., 1993. Pp. 336. $85.00. Travelling around the Human Genome. By Bertrand Jor- dan. Montrouge, France: John Libbey Eurotext Ltd., Viruses Retroviridae, The. Vol. 2. By Jay A. Levy. New 1993. Pp.188. York: Plenum Publishing Corp., 1993. Pp. 443. $89.50. Author Index to Volume 55

(BR) = book review; (C) = correction; (E) = editorial; (L) = letter to the editor; (0) = obituary Aaltonen, L. A., 659 Bentley, D. P., 505 Brown, J., 916 Adam, S., 606 Berg, M. A., 12 Brown, M. D., 410 (L) Adams, E. M., 305 Berger, B., 834 Brown, N., 206 (L) Akerman, B. R., 51 Berger, R., 653 Brown, S. A., 606 Albaugh, B. J., 788 Berginer, V. M., 907 Brunt, E. R. P., 702 Aldred, M. A., 105,916 Bernhardt, B., 626 Bryer, A., 244 Alford, R. L., 190 Bhattacharya, S. S., 105, 581 (L), Buchanan, J., 606 Allen, T., 12 1061 (L) Buchbinder, S., 788 Al-Maghtheh, M., 581 (L) Bianchi, F., 1247 Budarf, M. L., 134 Aloya, M., 34 Bianchi, N. 0., 27 Budowle, B., 391, 533 Altomare, D. A., 666 Bichet, D. G., 278 Buetow, K. H., 666, 932 Anand, R., 372 Bidlingmaier, F., 1113 Bundey, S. 105 Andermann, E., 606 Biesecker, L. G., 678 Buonocore, G., 975 Anderson, B., 975 Bignon, Y.-J., CC Burgess, M., 606 Anikster, Y., 287 Billingsley, G. D., 120,126 Burghes, A. H. M., 1218 Antush, M. J., 266 Bird, A. C., 105,916 Burke, R. E., 468 Argov, Z., 305 Birnbaumer, M., 278 Burks, M. B., 777 Arikat, H., 638 Bjorkhem, I., 907 Burn,J., 412 (L) Arnheim, N. 423, 431 Blanchet-Bardon, C., 289 Buse, E., 1268 Arnos, K. S., 728 Blankenagel, A., 1063 (L) Byers, P. B., 638 Arthus, M.-F., 278 Bloch, M., 606 Byth, B. C., 126 Asher, J. H., Jr., 728 Boaze, R., 788 Asherson, P., 590 (L) Bodis-Wollner, I., 203 (L) Cabell, M. F., 760 Assman-Hulsmans, C. F. C. H., 923 Boehnke, M., 379, 856 (L) Call, L. M.,96 Ayyub, H., 505 Boespflug-Tanguy, O., 461 Camaschella, C., 851 (L) Boghosian-Sell, L., 476 Campbell, L., 1209 Babron, M.-C., 1042 Bohnsack,J. F.,1153 Cann, R. L., 7 (E) Backhovens, H., 714 Boitard, C., 1247 Cao, A., 505 Bailey, C., 484 Boomsma, D. I., 876 Cardon, L. R., 566, 825 Bailliet, G., 27 Botkin,J. R., 1054 Cardwell, S., 606 Balamurugan, K., 34 Bouchard, C., 1019 Carey, J. C., 476, 1153 Baldwin, C. T., 728 Bourn, D., 69 Carlson, K. M., 1076 Baldwin, R., 1268 Bousser, M. G., 1166 Carmelli, D., 566 Bale, S. J., 1146 Bove, C., 314 Carnese, F. R., 27 Bamforth, S., 606 Boyce, A. J., 513 Caron, H., 341 Bamshad, M., 1153 Boyd, J., 861 (E) Carothers, A. D., 105, 916 Banfi, S., 244 Bracamontes, J., 1076 Carpten,J. D., 1218 Barash, V., 287 Branski, D., 287 Carson, N., 606 Barnicoat, A., 225 Bravi, C. M., 27 Carter, S. A., 69 Barrantes, R., 413 (L) Breakefield, X. O., 468 Casals, T., 890 Bartlett, S. P., 932 Bressman, S. B., 468 Caskey, C. T., 175, 190 Barton, N., 365 Briggs, M. D., 678 Cavagna, A., 461 Baur, M. P., 1030 Brin, M. F., 468 Cavalieri, J., 659 Beasley, R. P., 788 Briscoe, D., 809 Cavalli-Sforza, L. L., 951 Beldjord, C., 1284 (L) Brister, J. R., 685 Chakraborty, R., 175,391,582 (L) Bell, J., 1247 Brock, D. J. H., 105 Chakravarti, A., 421 (E) Benjamin, C. M., 606 Brodtkorb, E., 1122 Chapman, P., 412 (L) Bennett, R. L., 266 Bronson, E., 659 Charbonneau, L., 788 Benoit, S., 278 Brown, C. J., 87 Chase, G. A., 626 Benson, L., 437 Browne, D., 702 Chehab, F. F., 253

1297 1298 Author Index to Volume 55

Chen, Y.-S., 410 (L), 760 Dautigny, A., 461 Eng, C. M., 305 Chenevix-Trench, G., 143 David, V., 586 (L) Epstein, C. J., 253 Cheng, S.-D., 753 Davies, K. E., 81, 923, 1209 Erickson, R. P., 859 (BR) Child, A., 447 Davis-Keppen, L., 476 Eriksson, A. W., 348 Chiodetti, N., 849 (C) Dean, M., 788 Erlich., H. A., 160 Chiurazzi, P., 853 (L) Deen, P. M. T., 648 Estivill, X., 890 Choi, H., 678 de Faire, U., 1255 Eussen, B. H. J., 923 Choo, K. H. A., 960,968 de Graaff, E., 923 Evans, D. G. R., 69 Chorney, M., 586 (L) de Kraker, J., 341 Evans, G., 870 Christiano, A. M., 289 de la Chapelle, A., 659, 747, 937 Evans, H. J., 105 Christodoulou, Z., 1209 de Leon, D., 468 Evans, J. P., 12, 21, 595 (BR), 710 Chuang, D. T., 297 Delepine, M., 1247 Evans, K., 1061 (L) Chuang, J. L., 297 Delrieu, O., 1166 Chung, M.-y., 244 Demers, S. I., 327 Ciaranello, R. D., 951 Demoster, M., 105 Faber, J.-P., 1113 Clark, R., 1076 de Prost, Y., 289 Fabsitz, R., 566 Clarren, S. K., 1195 de Sanctis, L., 851 (L) Faden, R. R., 626 Clegg, D. O., 738 De Stefano, G. F., 160 Fahn, S., 468 Clegg,J. B., 513 Deschenes, S. P., 638 Falk, C., 453 Clerget-Darpout, F., 1042 Destro-Bisol, G., 168 Farrar, L. A., 714,728,991 Coakham, H., 69 Dianzani, I., 851 (L) Feingold, M., 1195 Cochaux, P., 1063 (L) DiBona, F. J., 278 Feng, H., 932 Coglan, M., 143 DiCioccio, R. A., 870 Ferrell, R. E., 1001, 1173 Cohen, J., 150 DiDonato, C. J., 1218 Fex, J., 685 Cohen, M., 1195 Diehl, S. R., 728 Fielder, A. R., 916 Cohn, D. H., 678 DiGiovanna, J. J., 1146 Filon, D., 1285 (L) Collins, A., 540 Dixon, J., 372 Finnell, R., 1286 (BR) Collins, D., 1092 Dixon, J. W., 74 Firth, H., 447 Columbano-Green, L. M., 74 Dixon, M. J., 372 Fish, A., 278 Compton, J. G., 1146 Dizier, M.-H., 1042 Fisher, C. R., 297 Connolly, C. J., 1188 Dobosz, M., 168 Fisher, E. M. C., 423 Connor-Lacke, L., 991 Donlon, T., 12 Flannery, A. V., 81 Copley, T., 606 Donnenfeld, A. E., 968 Flint, J., 505 Corvi, R., 334 Dorak, M. T., 585 (L) Foote, S., 423 Co~kun, T., 653 D6rk, T., 890 Ford, D., 870 Coto, I., 190 Driver, B., 1268 Fortina, P., 238 Cowan, T. M., 305 Droog, S., 876 Fraccaro, M., 356 Cox, D. W., 120, 126 Drouhard, T., 659 Francis, M. J., 1209 Cox, R. P.,297 Dry, K. L., 916 Francke, U., 596 (BR) Cox, S., 606 Dubay, C. J., 702 Francomano, C. A., 937 Cox, V. A.,253 Ducros, A., 1166 Fraser, F. C., 1050 Craddock, C. F., 505 Dufrasne, S., 606 Frecker, M., 606 Crane, A. M., 42 Duncan, A. M. V., 87, 134 Friedlander, M., 143 Cremers, C. W. R. J., 1188 Duvick, L. A., 244 Friedlander, Y., 907 Cruts, M., 714 Friedman, T. B., 728 Cupples, L. A., 991 Easton, D. F., 870 Frischauf, A.-M., 365 Cutillo, D. M., 968 Edwards, M. J., 484 Froguel, P., 1247 Eggerding, F. A., 253 Fryer, A., 1061 (L) Dahl, N., 225 Eichelberger, M., 788 Fuerst, P., 1218 d'Aloya, E., 168 Eisenberg, D., 606 Fujiwara, T. M., 278 Daly, M., 666 Eldridge, R., 314 Fukushima, Y., 1202 Daniels, R. J., 1209 Elion, J., 1284 (L) Fukuyama, Y., 946 Danze, P. M., 1247 Ellis, N. A., 453 Fulker, D. W., 825 Das, S., 883 Elpeleg, 0. N., 287 Fuller, A., 606 Dastugue, B., 461 Emanuel, B. S., 134 Fusaro, R., 659 Author Index to Volume 55 1299

Galanello, R., 505 Greenberg, C. R., 134, 606 Holberg, C. J., 555 Gallion, H. H., 870 Greenberg, D. A., 834 Holmberg, C., 747 Galvan, P., 975 Greenberg, J., 728 Holtzman, N. A., 626 Gancher, S., 702 Gregory, C. Y., 1061 (L) Homfray, T., 710 Gao, G. P., 34 Grifo,J., 150 Hong, H.-K., 1173 Garabedian, B. H., 1050 Grix, A. W., 484 Hoop, R. C., 777 Garber, A. P., 678 Grover, S., 606 Horman, A., 714 Garber, T., 606 Growdon, J. H., 991 Hoth, C., 728 Gardiner, M., 695 Grundfast, K. M., 685, 728 Houlihan, B., 1268 Gardner, H. A., 606 Guanti, G., 413 (L) Hovnanian, A., 289 Gasparini, P., 890 Gurrieri, F., 853 (L) Howell, N., 203 (L), 219 (E) Gasser, D. L., 932 Gusella,J. F., 314 Hsia, Y. E., 1092 Gasser, T., 468 Hudgins, L., 476 Gastaut, J. L., 1166 Haines, J. L., 120 Hughes, H., 12 Gelbert, L., 1092 Hallmayer, J., 951 Huie, M. L., 59 Geller, G., 626 Halonen, M., 555 Hunt, A. L., 468 Genin, A., 238 Halvorson, S., 203 (L) Hunter, A., 606 Genuardi, M., 12, M., 853 (L) Hamel, B. C. J., 923 Huoponen, K., 410 (L) Gerbitz, K.-D., 1063 (L) Hamilton, S. R., 659 Hurko, O., 1218 German, J., 453, 1242 Hamilton, T. C., 666 Hurst, T., 143 Gertner, J., 278 Hammond, H. A., 175,190 Huterer,J., 120 Geshuri, D., 12 Han, J.-Y., 960,968 Hwang, L.-L., 788 Getts, L. A., 666 Hardouin, A., CC Giampietro, P., 278 Hardwick, L. J., 105,916 Ikegawa, S., 946 Giannattasio, S., 851 (L) Harris, P. C., 365 Inglehearn, C., 581 (L) Gibson, A., 606 Harris, J., 695 Ingles, L., 738 Gillessen-Kaesbach, G., 853 (L) Harrison, C., 105 Ingraham, S. E., 1218 Girard, K., 606 Harrison, W., 476 Irven, C. M. M., 678 Giraud, G., 461 Hartmann,J., 1268 Israni, A., 59 Girodet, C., 870 Hashem, N., 1146 Italiano, I., 51 Gitschier, J., 883 Hasstedt, S. J., 738 Ives, E., 606 Giuberti, M., 975 Hautala, T., 899 Giusti, A. M., 533 Hayden, M. R., 606 Jabs, E. W., 1195 Gladwin, A. J., 372 Hebert,J., 951 Jackson, C. E., 1076 Goddard, K. A. B., 356 Hecht, F., 201 (0) Jacobs, P. A., 225 Godwin, A., 666 Hecht, J. T., 932 Jacoby, L. B., 314 Goedert, J. J., 788 Heikkinen, J., 899 Jaeger, P., 278 Goldfarb, L., 244 Heiman, G. A., 468 Jaksch, M., 1063 (L) Goldman, D., 788 Heitz, D., 225 Jani, M., 497 Goldsmith, C., 606 Heller, D. A., 1255 Jarvela, I., 695 Goldstein, D. R., 841 Hendriks, L., 714 Jarvik, G. P., 710 Gomez, C., 244 Hendy, G. N., 278 Jay, B., 105 Gonsalves, J., 583 (L) Hewett, D., 447 Jay, M., 105 Goodfellow, P. J., 1076 Hewett, J., 468 Jeppesen, P., 497 Goodship, J., 69 Higgs, D. R., 505 Jerald, H., 1195 Goodyer, P., 278 Hilal, L., 289 Jin, L., 175,391,582 (L) Goossens, M., 289 Hirschhorn, R., 59 Johns, D. R., 410 (L) Goradia, T. M., 423 Hirst, C., 588 (L) Johnson, P. A., 788 Gorin, M. B., 1173 Hirst, M. C., 81 Jones, C., 000 Gouttiere, F., 1166 Hockey, A., 484 Jorde, L. B., 348, 1153 Graham, D., 74 Hoehn, H., 356 Joutel, A., 1166 Gravel, R. A., 51 Hoffman, E. P., 777 Julier, C., 1247 Gray, G., 653 Hofman, K. J., 626 Green, E. D., 1195 Hogan, M., 666 Kaitila, I., 937 Green,J. S., 1092 Hoglund, P., 747 Kanazawa, I., 946 1300 Author Index to Volume 55

Kane, J., 606 Laframboise, R., 321 McCaskill, C., 968 Kaplan, B. S., 278 Laidlaw,J., 1092 McDermid, H. E., 134 Karengueven, F., 870 Lalwani, A. K., 685, 728 McEwen, J. E., 196 Karttunen, L., 1083 Lambert, M., 321 Macek, M., Jr., 890 Kass, J., 1054 Lamhonwah, A.-M., 51 McGinnis, R. E., 526 Kaul, R., 34 Lamiell,J. M., 1092 McGregor, A. M., 540 Kaye, J., 589 (L) Landa, B., 728 McInnis, M. G., 590 (L) Kazazian, H., 1285 (L) Lang, A. E., 120 McKellin, W., 606 Keen, J. T., 581 (L) Lange, K., 423,431 McLachlan, D. R. C., 120 Keister, R., 1268 Lanspa, S., 659 MacLean, C. J., 855 (L) Keller, U., 849 (C) Lathrop, G. M., 1247 MacLeod, P., 606 Kelley, D. A., 653 Lavergne, L., 760 McMahon, F. J., 590 (L) Kendler, K. S., 855 (L) Lavinha, J., 583 (L) McMahon, W., 951 Kennedy,J. L., 120,589 (L) Lazzeroni, L. C., 423, 431 MacPherson, J.,225 Kere, J., 747 Leach, F. S., 659 McPherson,J. D., 1218 Kerr, J., 143 Leary, J., 143 Macregor, D., 606 KestilI, M., 695 Ledley, F. D., 42 Maddalena, A., 225 Khalifa, M., 606 Lee, A., 932 Magenis, E., 12 Khoo, S.-K., 143 le Gall, J. Y., 586 (L) Majumder, P. P., 981 Khoury, M. J., 414 (L) Leitersdorf, E., 907 Makitie, O., 937 Kim,J., 12 Leon-del-Rio, A.,51 Malcolm, S., 932 Kimberling, W. J., 1188 Lester, D. H., 916 Mallmann, R., 648 King, M.-C., 861 (E) Leverton, K., 728 Malmgren, H., 225 Kinzler, K. W., 659 Levinson, B., 883 Mancini, J., 1166 Kirchgoser, M., 1113 Levy, M. L., 1279 (L) Mandel, J. L., 225 Kivirikko, K. I., 899 Levy-Marchal, C., 1247 Marcos, J. A. G., 225 Klein-Szanto, A. J. P., 1092 Lewanda, A. F., 1195 Marra, E., 851 (L) Kley, N., 1092 Lewis, R. A., 1279 (L) Marres, H. A. M., 1188 Klimek, M., 606 Li, F. P., 1092 Martin, G. M., 356, 866 (E), 1068 Klockars, J., 937 Liang, Y., 120 (BR) Knapp, M., 1030 Lin, A., 951 Martin, R. H., 1242 Knight, S.J. L., 81, 923 Lipson, M. H., 678 Martinez, F. D., 555 Knight-Jones, E. B., 916 Litt, M., 702 Martinson, J. J., 513 Knoers, V. V. A. M., 648 Llevadot, R., 890 Mascisch, A., 321 Knoll, J. H. M., 753 Loftus, S. K., 372 Masny, A., 666 Kobayashi, K., 1103 Lomb, D. A., 788 Matalon, R., 34 Kobayashi, Y., 206 (L) Lonergan, M., 278 Mathew, C., 225 Kommerell, G., 1063 (L) L6nnqvist, L., 1083 Maziacek, J., 1166 Kondo, E., 946 Lorenz, B., 1063 (L) Mazoyer, S., 870 Kozloski, J., 453 Lotspeich, L., 951 Mears, A. J., 134 Kraemer, H. C., 951 Lott, M. T., 410 (L), 760 Mehlman, M. J., 1054 Krakowiak, P. A., 1153 Loughlin, J. A., 678 Meiner, V., 907 Kramer, P. L., 468, 702 Louis, D. N., 314 Meire, F., 1063 (L) Kremer, H. P. H., 606 Lovrein, E., 12 Meitinger, T., 1063 (L) Kukolich, M., 21 Loyer, M., 51 Melki, J., 461 Kumagai, T., 946 Lucassen, A., 1247 Mendell,J. R., 1218 Kumar, S., 1188 Luo, S., 497 Merante, F., 437 Kuo, M., 1268 Lynch, H. T., 659, 666 Meshino, W., 606 Kvittingen, E. A., 653, 1122 Lynch, J., 447, 659 Mewar, R., 476 Lynch, P., 659 Michals, K., 34 Labauge, P., 1166 Migeon, B. R., 96,497 Labie, D., 1284 (L) McCall, A., 244 Miki, T., 356 Lachman, R., 678 Maccioni, L., 225 Miller, S., 606 Lacroix, A., 1076 McClearn, G. E., 1255 Milunsky, A., 728 La Du, B. N., Jr., 593 (BR) MacCollin, M., 314 Mimault, C., 461 Author Index to Volume 55 1301

Miserez, A. R., 849 (C) Okano, T., 1202 Poller, W., 1113 Monaco, A. P., 212 (BR) Okui, K., 946 Ponder, B. A. J., 870 Moncla, A., 81 Olek, K., 1113 Ponder, M. A., 870 Monnens, L. A. H., 648 Olsen, B. R., 678 Ponsot, G., 1166 Monson, K. L., 533 Olson, J. N., 574 Pontarotti, P., 586 (L) Montee, K., 589 (L) Oostra, B. A., 923 Ponzone, A., 851 (L) Morell, R., 728 Oppenheim, A., 1285 (L) Poorkaj, P., 12 Morgan, K., 278,1218 Orr, H. T., 244 Poot, M., 356 Morgan, W. J., 555 Oshima, J., 356 Pound, S. E., 365 Morkos, S., 907 Ott, J., 856 (L) Pousi, B., 899 Mornet, E., 225 Otterud, B., 1153 Prasad, M., 74 Morral, N., 890 Overhauser, J., 476 Presciuttini, S., 168 Morrison, K. E., 1209 Owen, M., 590 (L) Prescott, G., 1218 Morton, N. E., 540,587 (L) Ownby, D. R., 59 Prevost, C., 606 Moskowitz, C., 468 Ozelius, L. J., 468 Proesmans, W., 648 Motulsky, A., 603 (E) Ozols, R. F., 666 Province, M., 1019 Mouradian, W., 1195 Proytcheva, M., 453 Mucher, G., 1281 (L) Packman, S., 883 Pulaski, K., 314 Mullyla, R., 899 Page, D. C., 423 Pye, C., CC Munne, S., 150 Pagon, R. A., 12,484 Pylkkanen, P., 659 Pajunen, L., 899 Naglich, J., 1092 Palmer, S. E., 21 Raben, N., 305 Nakajima, H., 305 Paprotta, A., 1063 (L) Rademaker, A., 1242 Nakamura, Y., 946 Parry, D. M., 314 Raeburn, J. A., 916 Nakura, J., 356 Parsons, R., 659 Raghunath, M., 1083 Nance, W. E., 728 Pascali, V. L., 168 Raha-Chowdhury, R., 585 (L) Naritomi, K., 12 Patton, M. A., 12, 710 Ramesar, R., 244, 728 Nath, S. K., 981 Payami, H., 589 (L) Ramesh, V., 314 Nelson, D. L., 1279 (L) Pederson, N. L., 1255 Ramsburg, M., 788 Neri, G., 12, 852 (L) Peltomaki, P., 659 Rand, E. R., 238 Nesbit, A. M., 1209 Peltonen, L., 695, 1083 Ranum, L. P. W., 244 Neumann, H. P. H., 1092 Perlin, L. W., 777 Rao, D. C., 1019 New, M.,278 Perry, G. M., 975 Rao, V. S., 728,991 Newman, B., 861 (E) Perusse, L., 1019 Ratanachaiyavong, S., 540 Newton, V., 728 Perveen, R., 372 Read, A. P., 728 Nicastri, C., 305 Petersen, P. B., 951 Rebbeck, T., 484 Nicholas, P., 951 Petronis, A., 589 (L) Reeders, S. T., 365 Niermeijer, M. F., 618 Petrosky, A., 34 Reilly, P. R., 196 Niikawa, N., 1202 Pfeiffer, R. A., 12 Reilly, S. L., 1001 Nivet, H., 278 Pham Dinh, D., 461 Renlund, M., 348 Noguchi, T., 870 Phaneuf, D., 327 Reshef, A., 907 Nordlund, J. J., 981 Phillips, J. A. III, 1195 Resta, N., 413 (L) Norton, M. E., 253 Phromchotikul, T., 702 Reynolds, J. E., 728 Nunes, M., 12 Piazza, A., 851 (L) Rice, T. K., 1019 Nutt, J., 702 Piccoli, D. A., 238 Rickards, O., 160 Nygaard, T. G., 468 Pikus, A. T., 685 Riley, J. H., 372 Nyman, D., 348 Pingree, C., 951 Rimoin, D. L., 678 Nystr6m-Lahti, M., 659 Pinsard, N., 1166 Risch, N. J., 468 Pintado, E., 951 Ritvo, E., 951 Obermaier-Kusser, B., 1063 (L) Pikts, S. H., 638 Rivera, H., 12 O'Brien, E., 348 Piussan, C., 356 Roberts, D. J., 1 (E) O'Brien, S. J., 788, 809 Piver, M. S., 870 Roberts, E. J., 638 Ogawa, K., 1202 Ploplis, B., 685 Robertson, G. L., 278 Ogihara, T., 356 Plotz, P. H., 305 Robertson, M., 1153 Ohashi, H., 1202 PMD Clinical Group, 461 Robinson, B. H., 437 1302 Author Index to Volume 55 Roe, A. M., 453 Schork, N. J., 856 (L) Speleman, F., 341 Rogaev, E. I., 120 Schoute, F., 923 Spiegel, R., 225 Rogaeva, E., 120 Schubring, S., 1063 (L) Spiker, D., 951 Rogan, P. K., 74 Schultz, D. C., 666 Spinner, N. B., 238, 753 Romain, D. R., 74 Schuster, H., 849 (C) Spowart, G., 916 Root, D., 702 Schut, L. J., 244 Squitieri, F., 606 Rootwelt, H., 653, 1122 Schwaab, R., 1113 Steichen-Gersdorf, E., 870 Rosenblatt, D., 606 Schwab, M., 334 Stella, A., 413 (L) Rosenblum, N., 666 Schwartz, C., 225 Stephens, J. C., 788, 809 Rosenthal, W., 278 Schwartz, S., 87 Stephens, K., 12, 21 Ross, C. A., 590 (L) Scott, C. R., 266 Stewart, C., 788 Ross, R. A. C., 618 Scott, D. A., 638 Stine, 0. C., 590 (L) Rothhammer, F., 27 Scriver, C. R., 321 Stohr, H., 1182 Rousseau, F., 225 Seip, J. R., 74 Strachan, T., 69 Rowell, S., 861 (E) Seizinger, B. R., 1092 Strain, L., 105 Roy, M., 606 Selby, R. E., 74 Subramony, S. H., 244 Rozen, R., 321 Sellinger, B., 134 Suchowersky, O., 606 Rubio, M.-P., 314 Semeraro, A., 238 Sulisalo, T., 937 Rudnik-Schoneborn, S.,112 Seuchter, S. A., 1030 Summar, M. L., 1195 Rund, D., 1285 (L) Shaag, A., 287 Summers, A., 606 Russell, L. J., 1146 Shaffer, L. G., 960,968 Superti-Furga, A., 1137 Russo, S., 225 Shaheen, N., 1103 Surti, U., 87 Sham, P. C., 855 (L) Suzumori, K., 946 Sadovnick, A. D., 588 (L) Shapiro, R. M., 476 Sybert, V. P., 209 (L) Safadi, R., 907 Sharp, J., 695 Sykes, B., 447,678 Saheki, T., 1103 Sharpe, H., 206 (L) St Goerge-Hyslop, P., 120 Sherman, J., 203 (L) Saito, K., 946 Sherman, J. B., 305 Tabin, C., 1 (E) San Agustin, T. B., 685, 728 Sherrington, R., 589 (L) Tambor, E. S., 626 Sander, S., 1182 Shields, D. C., 540 Tanguay, R. M., 327 Sanderson, B., 143 Shokeir, M. H. K., 606 Tarleton, J., 225 Sandkuijl, L. A., 244 Short, P., 314 Taub, R., 238 Santavuori, P., 695 Siebenschuh, E., 1054 Taussig, L. M., 555 Santos, J., 120 Siegel-Bartelt, J., 134 Taylor, E., 1195 Santos, M., 413 (L) Simard, L. R., 1218 Taylor, S., 606 Sapienza, C., 1073 (E) Simonetti, S., 278 Teague, P. W., 105,916 Sassani, R., 932 Sing, C. F., 1001 Tein, I., 437 Savelyeva, L., 334 Sistonen, P., 659,937 Tejada, I., 225 Savukoski, M., 695 Skarka, H., 685 Terazono, H., 1103 Scarrow, A., 1054 Slagboom, P. E., 876 Terwilliger, J. D., 856 (L) Scattoni, M., 975 Slater, R., 341 Theilmann, J. L., 606 Schaap, T., 225 Slayton, R. L., 638 Theodosiou, A. M., 1209 Schaid, D. J., 402 Smeets, D. F. C. M., 923 Thomas, S., 365 Schanen, C., 596 (BR) Smith, A., 74 Thompson, L., 1268 Schellenberg, G. D., 356 Smith, M., 678 Tibben, A., 618 Scherer, S. W., 12, 21 Smith, S. A., 870 Tinley, S., 1188 Scheuerle, A. E., 1279 (L) Smits, A. P. T., 923 Titus-Trachtenberg, E. A., 160 Schinzel, A., 225 Smyrk, T., 659 Toda, T., 946 Schlumpf, K., 120 Snarey, A., 365 Torchia, B. S., 96 Schmitt, K., 423, 431 Sobol, H., 870 Torroni, A., 410 (L), 760 Schneider, M. C., 365 Soder, S., 12 Tournier-Lasserve, E., 1166 Schnur, R., 484 Soltan, H., 606 Trent, R. J., 74 Schonberg, S. A., 253 Sommer, S. S., 402 Trofatter, J. A., 314 Schoof, J. M., 266 Spedini, G., 168 Tsuda, T., 120 Schorderet, D. F., 225 Speilman, R. S., 526 Tsui, L.-C., 12,21 Author Index to Volume 55 1303

Uitto, J., 289 Ward, B., 143 Williamson, R. A., 594 (BR) Ward, R. H., 738 Willing, M. C., 638 Vahedi, K., 1166 Warman, M. L., 678 Winkler, C., 788 van Broeckhoven, C., 714 Wasmuth,J.J., 372,1218 Winship, I., 728 van Duijn, C. M., 714,991 Watkins, W. S., 348, 1153 Winter, R. M., 932 Van Dyke, D. L., 968 Watson, P., 659 Wirth, B., 112, 1218, 1281 (L) Vanderveer, L., 666 Weber, B. H. F., 1182 Wolff, D. J., 87 van de Kamp, J. J. P., 618 Weedon, M., 788 Wong, D. L., 951 van der Steenstraten, I. M., 618 Wehnert, A., 714 Wood, W. G., 505 van Essen, A. J., 648 Weidinger, S., 1113 Woodage, T., 74 van Lieber, A. F., 648 Weier, H.-U. G., 150 Woodhall, A., 1054 van Oost, B. A., 648 W. iss, L.,968 Wordsworth, P., 678 van Os, C. H., 648 Weissenbach, J., 120, 1061 (L), Worwood, M., 585 (L) van Roy, N., 341 1166,1195 Wright, A. F., 105, 365,916 van Sluis, P., 341 Welch, J. P., 606 Wright, A. L., 555 Verdijk, M. A. J., 648 Weleber, R. G., 484 Wynne-Davies, R., 678 Versteeg, R., 341 Wells, S. A., Jr., 1076 Villedieu, P., 1247 Westerveld, A., 341 Villegas, A., 505 Whaley,J. M., 1092 Xu, M., 203 (L) Vintiner, G. M., 932 Whelan, D., 606 Voelckel, M. A., 81 Wherrett, J. R., 120 Yang, D. R., 59 Vogel, F., 1067 (BR) Whitley, C. B., 278 Yaouanq, J., 586 (L) Vogelstein, B., 659 Whitney, S., 883 Yee, I. M. L., 588 (L) Vogt, G., 1182 Whittaker,J. L., 1061 (L) Yoshioka, M., 946 Vollrath, D., 423 Wick, P. A., 484 Yu, C.-E., 356 Voute, P. A., 341 Wiggins, S., 606 Vullo, C., 975 Wijsman, E. M., 21,356,574 Vulpe, C., 883 Wilcox, E. R., 685, 728 Zackai, E. H., 476, 753 Wildin, R. S., 266 Zenger, R., 348, 1153 Wagstaff, J., 484 Wilhelmsen, K. C., 468 Zerres, K., 112, 1063 (L), 1218,1281 Wakui, K., 1202 Willard, H. F., 87 (L) Walker, D., 1182 Williams, H. J., 505 Zhong, Y., 175, 391, 582 (L) Wallace, D. C., 410 (L), 760 Williams., R., 695 Zoghbi, H. Y., 244 Subject Index to Volume 55 (ASHG) = American Society of Human Genetics report; (BR) = book review; (C) = correction; (E) = editorial; (L) = letter to the editor; (0) = obituary

Abdominal fat, 1019 Anchoring fibrils, dystrophic epidermolysis bullosa, 289 Acentric marker chromosome, 1202 Aneuploidy, 150 Acetylated histone H4, 497 APC gene, familial adenomatous polyposis, 412 (L), 413 type 1B, 1137 (L) Acrocentric chromosomes, 17 rob(13ql4q), 960 ApoB 3' HVR, 168 Adenomatous polyposis, familial, 412 (L), 413 (L) Apolipoprotein A, twins, 1255 Adenosine deaminase-deficient immunodeficiency, 59 Apolipoprotein B, twins, 1255 Adenosine-phosphosulfate, achondrogenesis type 1B, Apolipoprotein E polymorphism, 1001 1137 Aquaporin 2 water-channel gene, 648 Admixture Arginine codon, dystrophic epidermolysis bullosa, 289 Linkage disequilibrium, 809 Argininosuccinate synthetase Polymorphic, 788 Citrullinemia, 1103 Affected sib pairs, 1030 Deficiency, 1103 Agl-CA alleles, spinal muscular atrophy, 1218 Arthritis, rheumatoid, 738 Age at onset Arthrogryposis, distal type 1, 1153 Alzheimer disease, 991 Ashkenazi Jews, 287 Spinocerebellar ataxia, 244 Bloom syndrome, 453 Aging Phosphofructokinase-M gene, 305 Clonal, 866 (L) ASPA gene, 34 Twins, 876 Aspartoacylase, 34 Alagille syndrome, 238 Deficiency, 287 Alcoholism, 17q21-22,1159 Gene mutation, 287 Allele frequency, 533 Association analysis, diabetes type I, 1247 Allelic association Ataxia, 1166 Cartilage-hair hypoplasia, 937 Episodic, 702 Spinal muscular atrophy, 1218 Atypical dementia, 17q21-22, 1159 Alpha-1-antitrypsin deficiency, 1113 Autism, infantile, 951 a1-Antichymotrypsin deficiency, 126 Automated genotyping, Duchenne muscular dystrophy, a-Globin, 513 777 Alu-alu recombination, Ehlers-Danlos syndrome type VI, Autosomal dominant mutations, spinal muscular atrophy, 899 112 Alzheimer disease Autosomal dominant retinitis pigmentosa, chromosome Etiology, 991 7p, 581 (L) Familial, linkage analysis, 714 Autosomal dominant split hand/split foot, 853 (L) Amerindians, 160 Autosomal nephrogenic diabetes insipidus, 648 Haplotypes, 27 Autosomal recessive inheritance, polycystic kidney dis- Amino acid metabolism ease, 1281 (L) Pseudodeficiency mutation, 1122 Autosomal recessive lamellar ichthyosis, linkage, 1146 Tyrosinemia type 1, 653 Autosomal recessive proximal spinal muscular atrophy, Amplification 1218 Infantile autism, 951 AVPR2 Sperm typing, 431 Gene, 266 Amyotrophy, 17q21-22, 1159 Mutations, 278 1304 Subject Index to Volume 55 1305

B12, 42 C854 mutations, 287 Balanced t(2;20), Alagille syndrome, 238 CAG, spinocerebellar ataxia, 244 Balancing selection, 160 Cameroon, ApoB 3'/D2S44/D7S21,168 Bayesian probabilities, 105 Canavan disease, 34, 287 Best vitelliform macular dystrophy, mapping, 1182 Cancer P-Globin mutations, Israel, 1284 (L), 1285 (L) Breast P-Glucoronidase, 1209 Genetic testing, i (November) (ASHG) Bile acid, cerebrotendinous xanthomatosis, 907 Predisposition, 861 (E) Bimodality, "class 1" alleles, 526 Breast-ovarian Blood pressure, 1019 Familial, 870 Bloom syndrome, 74 Susceptibility locus, 666 Ashkenazi Jews, 453 Colon, 412 (L), 413 (L) Chromosomal breakage, 1242 Nonpolyposis colorectal, hereditary, 659 Body fat, 1019 Ovarian Books reviewed, author(s)/editor(s): Familial site-specific, 870 Anvret, M., 596 Genetic testing, i (November) (ASHG) Berg, P., 595 Predisposition, 861 (E) Elias, S., 594 Sporadic and familial, 666 Emery, A. E. H., 212 Candidate gene, 1042 Foley, R. A., 1067 Association, 402 Hagberg, B., 596 Cardiomyopathy, inherited hypertrophic, 437 Kalter, H., 1286 Carrier detection, tyrosinemia type I, 327 Lasker, G. W., 1067 Carrier screening, cystic fibrosis, 626 Mascie-Taylor, C. G. N., 1067 Cartilage, collagen type II, 1128 Roberts, D. F., 1067 Cartilage-hair hypoplasia, mapping, 937 Simpson, J. L., 594 Case-parental control method, 414 (L) Singer, M., 595 Cat eye syndrome, 134 Smith, D. W. E., 1068 Caucasian(s) Soreq, H., 593 Machado-Joseph disease, 120 Wachtel, S. S., 859 mtDNA variation, 760 Wahlstr6m, J., 596 Origin, mtDNA, 760 Weiss, K. M., 1067 Cayapa Indians, 160 Zakut, H., 593 Ceiling principle, 587 (L) Books reviewed, title: Cell cycle, 341 Cambridge Studies in Biological Anthropology. Vol. 11: Cell lines, ovarian adenocarcinoma, 143 Genetic Variation and Human Disease: Principles Centromere, distal 8p, 1202 and Evolutionary Approaches, 1067 Cerebrotendinous xanthomatosis, 907 Dealing with Genes: The Language ofHeredity, 595 CFTR gene, mutation recurrence, 890 Duchenne Muscular Dystrophy, 212 Chemical cleavage, Menkes disease, 883 Essentials ofPrenatal Diagnosis, 594 Chibchan Amerindians, 413 (L) Human Longevity, 1068 Childhood-onset proximal spinal muscular atrophy, 112 Human Cholinesterases and Anticholinesterases, 593 cerebrotendinous xanthomatosis, 907 Issues and Reviews in Teratology, 1286 Cholestanol, Molecular Genetics ofSex Determination, 859 Cholesterol Rett Syndrome-Clinical and Biological Aspects, 596 Cerebrotendinous xanthomatosis, 907 Branched chain a-keto dehydrogenase complex, 297 Twins, 1255 Branchio-oto-renal syndrome, 1188 Chondrodysplasia, 678, 1128, 1137 BRCA1, 666 Chromosomal breakage, Bloom syndrome, 1242 Familial site-specific ovarian cancer, 870 Chromosomal localization, X-linked cone dystrophy, Breast cancer 1173 Genetic testing, i (November) (ASHG) Chromosome abnormalities, 150 Predisposition, 861 (E) Chromosome mapping, hemochromatosis gene, 585 (L), Breast-ovarian cancer 586 (L) Familial, 870 Chromosome 1, multiple epiphyseal dysplasia, 678 Susceptibility locus, 666 Chromosome lp, translocations, 334 1306 Subject Index to Volume 55 Chromosome 2p, hereditary nonpolyposis colorectal can- Chromosome 17q cer, 659 Breast-ovarian cancer, 666, 870 Chromosome 3p, hereditary nonpolyposis colorectal can- Ovarian cancer, 666 cer, 659 Chromosome 17q12-21, BRCA1, 870 Chromosome 5 Chromosome 17q21-22, disinhibition-dementia-parkin- Spinal muscular atrophy, 1209 sonism-amyotrophy complex, 1159 Treacher Collins syndrome, 372 Chromosome 18, Edwards syndrome, 476 Chromosome Sql 1.2-13.13, spinal muscular atrophy, Chromosome 19 1218 Alzheimer disease, 714 Chromosome 5q31.3-32, Treacher Collins syndrome, 372 Familial hemiplagic migraine, 1166 Chromosome 6, long-QT syndrome, 1230 Chromosome 19q, cone-rod retinal dystrophy, 1061 (L) Chromosome 6p21.1-p12, polycystic kidney disease, 1281 Chromosome 20p, Alagille syndrome, 238 (L) Chromosome 21, Alzheimer disease, 714 Chromosome 7, 1 (E), 21 Chromosome 22, cat eye syndrome, 134 Paternal isodisomy, 747 Chromosome X Chromosome 7p Inactivation, 497 Paternal, 253 Mental retardation, 87 Saethre-Chotzen syndrome, 1195 Pelizaeus Merzbacher disease, 461 Chromosome 7q Chromosome Xp21.2, X-linked sensorineural hearing im- Autosomal dominant split hand/split foot, 853 (L) pairment, 685 Maternal, 253 Chromosome Xq28 334 Haplotype analysis, 278 Translocations, Incontinentia pigmenti, 1279 (L) Chromosome 7q21.3-q22.1, 12 Chromosome Y. XY275G, 583 (L) Chromosome 8p, intercalary ancient centromere, 1202 Chromosomes X and Y. 423 Chromosome 8pll.1-21.1, Werner syndrome, 356 Citrullinemia, 1103 Chromosome 8q, branchio-oto-renal syndrome, 1188 "Class 1"' alleles, bimodality, 526 Chromosome 9 Cleft lip, nonsyndromic, 932 Distal arthrogryposis type I, 1153 Cleft palate, 932 Fukuyama-type congenital muscular dystrophy, 946 Clinical correlations, spinocerebellar ataxia, 244 Short arm, 143 CLN5, 695 Chromosome 9p, 143 Clonal aging, telomeric terminal restriction-fragment Chromosome 9p21-pl3, cartilage-hair hypoplasia, 937 length, 866 (L) Chromosome 9q34, idiopathic torsion dystonia, 468 Cloning, positional, 379 Chromosome 11, Best vitelliform macular dystrophy, Club foot, 1153 1182 Cluster mutations, 42 Chromosome 12pl3, /myokymia, 702 COD1,1173 Chromosome 13, neuronal ceroid lipofuscinosis, 695 COLlA1 gene, type I, 638 Chromosome 14 Collagen a1-Antichymotrypsin deficiency, 126 Type I, osteogenesis imperfecta type I, 638 Alzheimer disease, 714 Type II, Kniest chondrodysplasia, 1128 Machado-Joseph disease, 120 Colon cancer, 412 (L), 413 (L) Complex inheritance, Graves disease, 540 Chromosome 14q, autosomal recessive lamellar ichthyo- Complex traits, 855 (L), 856 (L) sis, 1146 Compound heterozygote, Marfan syndrome, 1083 Chromosome 14q32.1, a1-antichymotrypsin deficiency, Computer-based linkage analysis, Duchenne muscular 126 dystrophy, 777 Chromosome 15 Cone dystrophy, X-linked, 1173 Bloom syndrome/maternal uniparental disomy, 74 Cone-rod retinal dystrophy, 1061 (L) Inverted duplicated, 753 Confidentiality, 196 Marfan syndrome, 1083 Congenital chloride diarrhea, 747 Chromosome l5qll-ql3, 753 Congenital contractures, 1153 Chromosome 16 Contamination, sperm typing, 431 Polycystic kidney disease, 365 Contiguous-gene syndrome, 238 Thalassemia, 505 Convergent evolution, 160 Subject Index to Volume 55 1307 Copper transport, Menkes disease, 883 Polymorphism, diabetes type I, 1247 Coronary artery disease, 1001 Replication, 96 Correlations, familial, 1019 Typing, 190 Corticosteroid binding globulin, 126 Variant association analysis, diabetes type I, 1247 COX III mutation, Leber hereditary optic neuropathy, 410 Dominant cystoid macular dystrophy, chromosome 7p, (L) 581 (L) Craniofacial/craniosynostosis abnormalities, 1195 Dosage, 134 Critical region, cat eye syndrome, 134 Double crossing-over, male meiosis, 423 Cystic fibrosis DRB1, 160 Carrier screening, 626 Duchenne muscular dystrophy, 685 R334W, R347P, R1162X, 3849+10kbC-T, 890 Diagnosis, 777 Cytogenetic studies, Alagille syndrome, 238 Duplication Cat eye syndrome, 134 D-loop mtDNA deletion, 413 (L) Lysyl hydroxylase gene, Ehlers-Danlos syndrome type D2S44,168 VI, 899 D7S21,168 , 678 D7S507,1195 DXS7, X-linked cone dystrophy, 1173 D7S664,1195 Dysmyelinating disease, 461 De novo mutation, multiple endocrine neoplasia type 2B, Dysplasia 1076 Multiple epiphyseal, mapping, 678 Deletion(s) Skeletal, 678 Homozygous, ovarian adenocarcinoma, 143 Dystonia, idiopathic torsion, 468 Kniest chondrodysplasia, 1128 Dystopia canthorum, 728 Ovarian adenocarcinoma, 143 Dystrophic epidermolysis bullosa, 289 Deletion/insertion/transversion, maple syrup urine dis- Dystrophin, X-linked sensorineural hearing impairment, ease, 297 685 Dementia, 588 (L), 589 (L), 590 (L), 907 DYT1, 468 deoxyATP, 59 Developmental genetics, 1 (E) Denaturing gradient-gel electrophoresis Ela mutations, maple syrup urine disease, 297 Dystrophic epidermolysis bullosa, 289 Ectrodactyly, 1 (E), 12, 21, 710 PCR, phosphofructokinase-M gene, 305 Edwards syndrome, 476 Diabetes Ehlers-Danlos syndrome type VI, 899 Insipidus, autosomal nephrogenic, 648 Environment, 1019 Twins, 566 Epidemiology, genetic, vitiligo, 981 Type I,1247 Episodic ataxia, 702 Diagnosis, predictive genetic, 603 (E) Epistasis, 1030 Differential allelic expansion, Marfan syndrome, 447 Ethnic diversity, VNTR RFLP fixed-bin frequency distri- Digital abnormalities, 1195 butions, 1268 Dinucleotide repeat allele determination, Duchenne mus- Ethnic subgroups, 533 cular dystrophy, 777 European populations, phenylketonuria, 321 Direct mutation detections, Huntington disease, 606 Ewondo ethnic groups, 168 Disease models, two-locus, 1030 Exon skipping, Menkes disease, 883 Disease Expression, tyrosinemia type 1, 653 Genes, mapping, 788, 809 Extracellular matrix microfibrils, Marfan syndrome, 1083 Susceptibility, HLA, 1230 Genes, 414 (L) Factor 8C, 96 Disinhibition, 17q21-22, 1159 Familial adenomatous polyposis, heterogeneity, 412 (L), Distal arthrogryposis type I, 1153 413 (L) DNA Familial Alzheimer disease, linkage analysis, 714 Banks,196 Familial breast-ovarian cancer, 870 Forensics, 391 Familial correlations, 1019 Fragment sizes, 391 Familial hemiplegic migraine, 1166 Identification, 587 (L) Familial hypercholesterolemia, 849 (C) Methylation, fragile X syndrome, 225 FBN1, 447 1308 Subject Index to Volume 55 Fibrillin Familial hemiplagic migraine, 1166 Marfan syndrome, 447 X-linked retinitis pigmentosa, 105 Mutations, 1083 Genetic linkage FISH, 96, 150,334 Analysis, Waardenburg syndrome, 728 Edwards syndrome, 476 Limits of resolution, 379 17 rob(13ql4q), 960 X-linked mental handicap and retinitis pigmentosa, 916 Trisomy 13, 968 Genetic mapping, a1-antichymotrypsin deficiency, 126 Flavin deficiency, 975 Genetic markers, hemochromatosis gene, 585 (L), 586 (L) FMR-1, 96 Genetic recombination, 423 Linkage, 951 Genetic screening, cystic fibrosis, 626 Forensic DNA, 587 (L) Genetic services, cystic fibrosis, 626 Forensic estimates, 533 Genetic structure, 587 (L) Forensic identification, 175 Genetic technology, national health reform, 1054 Forensics, VNTR RFLP fixed-bin frequency distributions, Genetic testing, breast and ovarian cancer, i (November) 1268 (ASHG) Founder effect Genomic diversity, phenylketonuria, 851 (L) Bloom syndrome, 453 Genomic imprinting, 96 Neuronal ceroid lipofuscinosis, 695 Genomic/parental imprinting, paternal isodisomy, 747 Fragile site, X-linked mental retardation, 81 Genotype-environment interaction, 402 Fragile X, 96 Genotype-phenotype correlation, 225 Autism, 951 Germ-line mutation, 69 Segregation, 923 von Hippel-Lindau tumor-suppressor gene, 1092 Syndrome, 225 Globin, thalassemia, 505 Frameshifts, osteogenesis imperfecta type I, 638 Glutathione reductase, 975 FRAXE, 81 Glycogenosis VII, 305 Segregation, 923 Graves disease, segregation and linkage analysis, 540 French Canadians Growth retardation, 253 Phenylketonuria, 321 Guthrie cards, 196 Tyrosinemia type I, 327 Frontal lobe dementia, 17q21-22,,1159 Haploidy, 150 Fukuyama-type congenital muscular dystrophy, mapping, Haplotype(s) 946 Mitochondrial, 27 Fumarylacetoacetate, tyrosinemia type 1, 653 Phenylalanine hydroxylase, 321 Fumarylacetoacetate hydrolase, 1122 VNTR alleles, 513 RFLP haplotypes, 327 Werner syndrome, 356 Functional X disomy, 497 Haplotype relative risk, 402 Healing broken human chromosomes, thalassemia, 505 G protein-linked receptor, 266 Hemiplagic migraine, familial, 1166 G2 phase, 341 Hemochromatosis gene, 585 (L), 586 (L) GCC repeat, FRAXE, 923 Hereditary breast-ovarian cancer syndrome, 666 Gender, apolipoprotein E genotype, 1001 Hereditary nonpolyposis colorectal cancer, 659 Gene mapping Hereditary tumor syndrome, 1092 Incontinentia pigmenti, 209 (L) Heterogeneity von Willebrand factor, 348 Alzheimer disease, 991 Gene-sharing analysis, long-QT syndrome, 1230 Familial adenomatous polyposis, 412 (L), 413 (L) Genetic association, 574 Genetic Genetic clustering, twins, 566 Autosomal dominant split hand/split foot, 853 (L) Genetic counseling, spinal muscular atrophy, 112 Familial hemiplagic migraine, 1166 Genetic distance(s) X-linked retinitis pigmentosa, 105 Familial hypercholesterolemia, 849 (C) Linkage, 841 VNTR RFLP fixed-bin frequency distribution, 1268 Locus, Waardenburg syndrome, 728 Genetic diagnosis, predictive, 603 (E) Testing, X-linked ocular albinism, 484 Genetic epidemiology, vitiligo, 981 Two-locus models, 1030 Genetic heterogeneity X-linked ocular albinism, 484 Autosomal dominant split hand/split foot, 853 (L) X-linked retinitis pigmentosa, 112 Subject Index to Volume 55 1309

Heteroplasmy Isochromosome (s) Hypertrophic cardiomyopathy, 437 7p and 7q, 253 Leber hereditary optic neuropathy, 203 (L), 206 (L) Trisomy 13, 968 Heterozygosity, loss, ovarian adenocarcinoma, 143 Isodisomy Hidden Markov chain, sperm typing, 431 Paternal, 747 High penetrance, autosomal dominant split hand/split Uniparental, 747 foot, 853 (L) Israeli Druze, cerebrotendinous xanthomatosis, 907 High-frequency sensorineural hearing loss, 747 HLA Jewish mutations, 34 Class II, 160 Rheumatoid arthritis, 738 Karyotype-phenotype correlation, 87 HLA association, long-QT syndrome, 1230 Kinship, 587 (L) Homozygosity Kniest chondrodysplasia, 1128 Hemochromatosis gene, 585 (L), 586 (L) Late-life disease, telomeric terminal restriction-fragment Mapping length, 866 (L) Bloom syndrome, 453 LDL receptor gene, 849 (C) Fukuyama-type congenital muscular dystrophy, 946 Learning difficulties, 81 Homozygote, Machado-Joseph disease, 120 Leber hereditary optic atrophy/neuropathy, 203 (L), Homozygous deletion, ovarian adenocarcinoma, 143 206 (L), 1063 (L) Human leukocyte antigen, Graves disease, 540 Nucleotide pair 9438,410 (L) Human migrations, 7 (E) Lejeune, Jerome, 201 (0) Human MutL homologue 1, hereditary nonpolyposis co- Leukodystrophy, 34, 461 lorectal cancer, 659 Likelihood analysis, rheumatoid arthritis, 738 Human MutS homologue 2, hereditary nonpolyposis co- Likelihood methods, 841 lorectal cancer, 659 Likelihood model, 402 Huntington disease, predictive testing, 606, 618 Limb development, 1 (E) Hypercholesterolemia, familial, 849 (C) Limb malformation, 1 (E), 1153 Hypertension, twins, 566 Limits of resolution, genetic linkage studies, 379 Hypomelanosis of Ito, 209 (L) Linkage Hypothesis testing, 834 a1-Antichymotrypsin deficiency, 126 Autosomal recessive lamellar ichthyosis, 1146 Cone-rod retinal dystrophy, 1061 (L) Idiopathic torsion dystonia, 468 Genetic IgE, Mendelian inheritance, 555 Limits of resolution, 379 Imprinting, 253 X-linked mental handicap and retinitis pigmentosa, In vitro expression, autosomal nephrogenic diabetes insip- 916 idus, 648 Infantile autism, 951 In vitro fertilization, 150 Machado-Joseph disease, 120 Incontinentia pigmenti, 209 (L) VNTR alleles, 513 De novo mutation, 1279 (L) X-linked cone dystrophy, 1173 Inheritance, mode, 834 Linkage analysis Insulin Alzheimer disease, 714 Diabetes type I, 1247 Computer-based, Duchenne muscular dystrophy, 777 Gene,1042 Distal arthrogryposis type I, 1153 Region, 526 Genetic Saethre-Chotzen syndrome, 1195 Insulin-dependent diabetes mellitus, 1042 Waardenburg syndrome, 728 Linkage disequilibrium, 526 Graves disease, 540 Interactive effect, candidate genes, 1042 Hereditary nonpolyposis colorectal cancer, 659 Interallelic complementation, 42 Interval mapping, 834 Interallelic complementation, 51 Pelizaeus Merzbacher disease, 461 Interphase analysis, 150 Spinal muscular atrophy 112 Interval mapping, 825 X-linked ocular albinism, 484 Intragenic complementation, 51 Linkage disequilibrium Inverted duplicated chromosomes 15, 753 Bloom syndrome, 453 1310 Subject Index to Volume 55 Cartilage-hair hypoplasia, 937 Interval, 825 Forensics, 587 (L) Multiple epiphyseal dysplasia, 678 Fukuyama-type congenital MD, 946 Physical Hemochromatosis gene, 585 (L), 586 (L) Best vitelliform macular dystrophy, 1182 Insulin gene region, 526 Treacher Collins syndrome, 372 Neuronal ceroid lipofuscinosis, 695 Split hand/split foot locus, 12 Nonsyndromic cleft lip, 932 Werner syndrome, 356 PKD1, 365 Marfan syndrome Sample size, 574 Compound heterozygote, 1083 Spinal muscular atrophy, 1218 FBN1, 447 von Willebrand factor, 348 Marker chromosome Werner syndrome, 356 Cat eye syndrome, 134 Linkage exclusion, autosomal split hand/split foot, 853 Distal 8p, 1202 (L) Marker X chromosome, 87 Linkage heterogeneity, 841 Marker loci, two-locus disease models, 1030 Linkage map(s)/mapping Marker-association-segregation X2 method, 1042 Episodic ataxia/myokymia, 702 Maternal uniparental disomy, 74 Pseudoautosomal region, 423 Maximized maximum lod score, mode of inheritance, 834 Lipids Maximum likelihood, sperm typing, 431 Plasma, 1001 Meiosis, sperm, 421 (E) Serum, twins, 1255 Melanin macroglobules, X-linked ocular albinism, 484 Lipofuscinosis, neuronal ceroid, 695 Mendelian inheritance, IgE, 555 Lipoproteins, twins, 1255 Mendelian segregation, split hand/split foot, 710 Liver disease, 653,1122 Menkes disease, 883 Lobster claw deformity, 710 Mental handicap, X-linked, 916 Locus heterogeneity Mental retardation, 87 Split hand/split foot, 21 Nonspecific mild, 923 Waardenburg syndrome, 728 X-linked,81,923 Lod-score differences, 834 Merlin, NF2, 314 Logistic models, Alzheimer disease, 991 Metabolic myopathy, 305 Long-QT syndrome, 1230 Metabolic syndrome, 1019 Loss of heterozygosity Methylmalonic acidemia, 42 Breast-ovarian cancer, 666 Methylmalonyl CoA mutase, 42 Ovarian adenocarcinoma, 143 Microdeletion, Saethre-Chotzen syndrome, 1195 lp,341 Microsatellite markers Luria-Delbruck formula, neuronal ceroid lipofuscinosis, Best vitelliform macular dystrophy, 1182 695 Cartilage-hair hypoplasia, 937 Lymphocytes, Leber hereditary optic neuropathy, 206 (L) Microsatellite motifs, 582 (L) Lysyl hydroxylase, Ehlers-Danlos syndrome type VI, 899 Microsatellite repeat, paternal isodisomy, 747 Migraine, familial hemiplagic, 1166 Machado-Joseph disease, 120 Mismatch repairgenes, hereditary nonpolyposis colorectal Major histocompatibility complex, 160 cancer, 659 Hemochromatosis gene, 585 (L), 586 (L) Mitochondria, tRNA glycine, 437 Malaria, selection, 975 Mitochondrial diseases, Leber hereditary optic neuropa- Malformation, split hand/split foot, 12, 21 thy, 203 (L) MAOA, X-linked cone dystrophy, 1173 Mitochondrial gene mutations, 219 (E) Maple syrup urine disease, 297 Map(s)/Mapping Mitochondrial genetics, Leber hereditary optic neuropa- Cartilage-hair hypoplasia, 937 thy, 206 (L) 27 Disease genes, 788 Mitochondrial haplotypes, Fukuyama-type congenital muscular dystrophy, 946 Mixture model, 841 Genetic MOD scores, 834 Branchio-oto-renal syndrome, 1188 Molecular basis, maple syrup urine disease, 297 Spinal muscular atrophy, 1218 Molecular characterization, cat eye syndrome, 134 Treacher Collins syndrome, 372 Molecular correlations, spinocerebellar ataxia, 244 Subject Index to Volume 55 1311

Molecular cytogenetics, inverted duplicated chromo- Menkes disease, 883 somes 15, 753 NF2, 314 Molecular diagnostics, Duchenne muscular dystrophy, Pseudodeficiency mutation, 1122 777 Werner syndrome, 356 Molecular genetics, Huntington disease, 606 Myokymia, 702 Molecular mapping, Edwards syndrome, 476 Myopathy Molecular studies, Alagille syndrome, 238 Metabolic, 305 Mosaicism, 69, 150 Visceral, 437 Somatic, 59 Motor neuron disease, 17q21-22,1159 National health reform, 1054 mRNA Native Americans, mtDNA, 7 (E) Quantitation, Marfan syndrome, 1083 Nephrogenic diabetes insipidus, 266 Stability, maple syrup urine disease, 297 Neural tube defects, 1050 mtDNA, 27 Neuroblastoma, 334, 341 Caucasian origins, 760 Neurofibromatosis type 2, 69, 314 COX III mutation, 410 (L) Neuronal ceroid lipofuscinosis, 695 D-loop Neuropathy, cerebrotendinous xanthomatosis, 907 Deletion, 413 (L) Newborn screening, 196 Insertion, 760 Nondetectability, 391 Heteroplasmic duplication, 760 Nonhomologous mitotic recombination, 341 Hypertrophic cardiomyopathy, 437 Non-Mendelian transmission, split hand/split foot, 710 Leber hereditary optic neuropathy, 203 (L), 206 (L) Nonsense mutations, dystrophic epidermolysis bullosa, Mutations, Leber hereditary optic neuropathy, 1063 (L) 289 Polymorphisms, Native Americans, 7 (E) Nonsyndromic X-linked sensorineural hearing impair- Multifactorial disease, 1042 ment, 685 Multiple endocrine neoplasia type 2B, 1073 (E), 1076 Nontranscribed X-linked genes, 96 Multiple epiphyseal dysplasia, mapping, 678 Nucleotide pair 9438, Leber hereditary optic neuropathy, Multipoint mapping 410 (L) Pseudoautosomal region, 423 Null allele, 391 Sperm typing, 431 COLlA1, 638 Mutation(s) Marfan syndrome, 447 Autosomal dominant, SMA, 112 AVPR2 gene, 266 f-Globin, Israel, 1284 (L), 1285 (L) Obesity, twins, 566 Canavan disease, 34 Oceania, VNTR alleles, 513 Cystic fibrosis, 890 Ocular albinism, X-linked, 484 Oncogenes, 334 De novo 855 856 (L) AVPR2 gene, 278 One-locus lod, (L), Incontinentia pigmenti, 1279 (L) 11778 mutation, Leber hereditary optic neuropathy, 203 Multiple endocrine neoplasia type 2B, (L) Fragile X syndrome, 225 Osteogenesis imperfecta type I, 638 Germ-line, 69 Ovarian adenocarcinoma, cell lines, 143 Ovarian cancer von Hippel-Lindau tumor-suppressor gene, 1092 Mitochondrial, 219 (E) Familial site-specific, 870 Methylmalonic acidemia, 42 Genetic testing, i (November) (ASHG) NF2, 69 Predisposition, 861 (E) 11778, Leber hereditary optic neuropathy, 203 (L) Sporadic and familial, 666 Phenylalanine hydroxylase, 321 Phenylketonuria, 851 (L) Parentage, 190 Phosphofructokinase-M gene, 305 Parental age effects, multiple endocrine neoplasia type 2B, Propionic acidemia, 51 1076 Splice site, 59 Parental effects, MEN2B, 1073 (E) Tyrosinemia typs 1, 653 Parkinsonism, 17q21-22, 1159 Mutation analysis Partial duplication, Edwards syndrome, 476 Citrullinemia, 1073 Paternal isodisomy, 747 1312 Subject Index to Volume 55 Paternity, 190 Premutation, FRAXE, 923 Testing, 175 Prenatal diagnosis, tyrosinemia type I, 327 PAX3, 728 Presymptomatic diagnosis, Huntington disease, 606 PCCB gene, 51 Presymptomatic testing, Huntington disease, 618 PCR,51, 160,175,190 Privacy, 196 Familial hypercholesterolemia, 849 (C) Propionic acidemia, 51 Leber hereditary optic neuropathy, 206 (L) Propionyl-COA carboxylase, 51 Sperm typing, 431 Protein assembly, maple syrup urine disease, 297 Stutter deconvolution, Duchenne muscular dystrophy, Protein C inhibitor, 126 777 Protein domains, 51 Pelizaeus Merzbacher disease, genetic homogeneity, 461 Proteoglycans, achondrogenesis type 1B, 1137 Personal identification, 175 Proteolipoprotein, Pelizaeus Merzbacher disease, 461 Phenotypic mapping, Edwards syndrome, 476 Pseudoachondroplasia, 678 Phenotypic variability, X-linked ocular albinism, 484 Pseudoautosomal region, mapping, 423 Phenylalanine hydroxylase, 851 (L) Pseudodeficiency mutation, fumarylacetoacetate hy- Gene, 321 drolase, 1122 Haplotypes, 321 Pyridoxine phosphate oxidase, 975 Mutations, 321 Phenylketonuria, 321, 851 (L) Quantitative trait loci, interval mapping, 825 Phosphoadenosine-phosphosulfate, achondrogenesis type Quebec, phenylketonuria, 321 1B, 1137 Phosphofructokinase-M gene, 305 Recessive disease, cerebrotendinous xanthomatosis, 907 Photoreceptor degeneration, 1061 (L) Recombinant chromosomes, Best vitelliform macular dys- Physical mapping, 126 trophy, 1182 PI-like gene, 126 Recombination PI-phenotyping, alpha-1-antitrypsin, 1113 Duchenne muscular dystrophy, 777 PI-variants, alpha-1-antitrypsin, 1113 Hot spots, familial hypercholesterolemia, 849 (C) Pigmentary abnormalities, 209 (L) Mapping, Fukuyama-type congenital MD, 946 PKD1, 365 Thalassemia, 505 Plasma lipids, 1001 von Willebrand factor, 348 Polycystic kidney disease, 365 Red-cell flavin deficiency, 975 Autosomal recessive, 1281 (L) Relative risk, diabetes type I, 1247 Polymorphic admixture, 788 Renal cell carcinoma, sporadic, 1092 Polymorphic microsatellites, Bloom syndrome, 453 Repeat sequence, spinal muscular atrophy, 1209 Polyploidy, 150 Repetitive arrangements, gene sequence, spinal muscular Polyposis, familial adenomatous, 412 (L), 413 (L) atrophy, 1209 Population databases, 533 Restriction transcription-PCR, citrullinemia, 1103 Population genetics, 7 (E), 175, 809 Retinal dystrophy, cone-rod, 1061 (L) Phenylketonuria, 851 (L) Retinitis pigmentosa, X-linked, 105, X-linked, 916 Polymorphic admixture, 788 Reverse chromosome painting, microdissection, 1202 Population stratification, 402 RFLPs, 788, 809 Population subdivision, VNTR alleles, 513 Familial hypercholesterolemia, 849 (C) Portugese, XY275G, 583 (L) Typing, 391 Positional cloning, 379 VNTR, fixed-bin frequency distributions, 1268 Posttranslational modifications, Kniest chondrodysplasia, Rheumatoid arthritis, 738 1128 Ring X chromosomes, 497 Power, sample size, 574 Robertsonian translocation, 960,968 Prader-Willi syndrome, 74, 753 RP2, 105 Predictive genetic diagnosis, 603 (E) RP3, 105 Predictive testing, Huntington disease, 606, 618 rRNA genes, 17 rob(13ql4q), 960 Preimplantation embryos, 150 Premature chain termination, osteogenesis imperfecta Saethre-Chotzen syndrome, 1195 type I, 638 Sample size, linkage disequilibrium, 574 Premature stop codon, dystrophic epidermolysis bullosa, Satellite DNA, 17 rob(13ql4q), 960 289 SCA1, 244 Subject Index to Volume 55 1313

Schizophrenia, 17q21-22,1059 Test utilization, cystic fibrosis, 626 Schwannoma, 314 TGFA, 932 Secondary trisomy 13, 968 Thalassemia, 505 Segregation analysis 3' HVR, 168 Alzheimer disease, 991 Thyroid autoantibody, Graves disease, 540 Graves disease, 540 Tissue distribution, Leber hereditary optic neuropathy, IgE, 555 203 (L) Interval mapping, 834 Torsion dystonia, idiopathic, 468 Vitiligo, 981 Translocation Segregation distortion, 710 Alagille syndrome, 238 Segregation ratio, proximal spinal muscular atrophy, 112 lp and 17q, 334 Senescence, twins, 876 Trisomy 13, 968 Separation-individuation, Huntington disease, 618 Transmission disequilibrium test, nonsyndromic cleft lip, Serpin gene cluster, 126 932 17 rob(13ql4q), 960 Treacher Collins syndrome, 372 Severe combined immunodeficiency, 59 Triglycerides, twins, 1255 Sex-ratio distortion, multiple endocrine neoplasia type 2B, Trinucleotide repeat, 81 1073 (E), 1076 Infantile autism, 951 Short repeats, AVPR2 gene, 266 Machado-Joseph disease, 120 Short tandem repeat(s), 175, 190 Triplet repeat expansion, 81 Sib pairs, interval mapping, 825 Trisomy 13, 968 Single-cell analysis, Leber hereditary optic neuropathy, Trisomy 18,476 206 (L) tRNA glycine, mitochondria, 437 Skeletal dysplasia, 678 Tumor suppressor, 69 Somatic cell hybrids, 12 Gene(s), 143, 314, 334 Somatic mosaicism, 59 Breast-ovarian cancer, 666 Sperm von Hippel-Lindau syndrome, 1092 Chromosomes, Bloom syndrome, 1242 Tumor syndrome, hereditary, 1092 Karyotypes, Bloom syndrome, 1242 Tumorigenesis, 334 Meiosis, 421 (E) Turner syndrome, 87,497 Typing, 423, 431 Twins/Twinning Spermatozoa, Bloom syndrome, 1242 Hypertension/diabetes/obesity, 566 Spinal muscular atrophy, 1209 Lipids/apolipoproteins, 1255 Autosomal recessive proximal, 1218 Telomere size, 876 Proximal, 112 Upper-neural tube defects, 1050 Spinocerebellar ataxia, 244 Two-locus disease models, 1030 Splice-site mutation, 59 Two-locus lod, 855 (L), 856 (L) Splicing mutation Two-locus model, 1042 Kniest chondrodysplasia, 1128 Tyrosinemia type 1, 653, 1122 Osteogenesis imperfecta type I, 638 Carrier detection, 327 Split hand/split foot, 12, 21 Prenatal diagnosis, 327 Autosomal dominant, 853 (L) Mendelian segregation, 710 Unequal crossing-over, AVPR2 gene, 266 Spongy degeneration, 34 Uniparental disomy, maternal, 74 SSCP, 51 Uniparental isodisomy, 253 Sulfate activation defect, 1137 Uniparental paternal isodisomy, 747 Syndactyly, 1 (E) Unstable trinucleotide repeat, spinocerebellar ataxia, 244 Urea cell deficiency, 1103 Tandem repeat loci, 175 Tarui disease, 305 Vasopressin receptors, 278 Telomerase, thalassemia, 505 Visceral myopathy, 437 Telomere size, twins, 876 Vitiligo, 981 Telomeric repeats, thalassemia, 505 VNTR, 391, 533 Telomeric terminal restriction-fragment length, aging, 866 Alleles, a-globin locus, 513 (L) Ewondo ethnic groups, 168 1314 Subject Index to Volume 55

Insulin gene region, 526 X-linked mental handicap, 916 RFLP, fixed-bin frequency distributions, 1268 X-linked mental retardation, 81, 923 von Hippel-Lindau disease, tumor-suppressor gene, 1092 X-linked nephrogenic diabetes insipidus, 278 von Willebrand disease, 348 X-linked ocular albinism, 484 X-linked retinitis pigmentosa, 105, 916 685 W index, 728 X-linked sensorineural hearing impairment, Xenopus oocytes, autosomal nephrogenic diabetes insipi- Waardenburg syndrome, locus heterogeneity, 728 dus, 648 Werner syndrome, 356 XIST,96,497 XY275 locus, 583 (L) X inactivation, 87,96 X-autosome translocation, 209 (L) YAC, Treacher Collins syndrome, 372 X-linked cone dystrophy, 1173 Yule's Q,574 THE AMERICAN JOURNAL OF HUMAN GENETICS

EDITOR MANAGING EDITOR Peter H. Byers, M.D. Roberta Wilkes University of Washington University of Washington School of Medicine Seattle, WA Seattle, WA ASSOCIATE EDITORS Ranajit Chakraborty, Ph.D. Roderick R. McInnes, M.D., Stephen T. Warren, Ph.D. University of Texas Health Ph.D. Emory University School of Sciences Center The Hospital for Sick Children Medicine Houston, TX Toronto, Ontario Atlanta, GA Terry J. Hassold, Ph.D. Jeffrey C. Murray, M.D. Bruce S. Weir, Ph.D. Case Western Reserve University University of Iowa Hospitals North Carolina State University Cleveland, OH Iowa City, IA Raleigh, NC Lynn Jorde, Ph.D. Richard M. Pauli, M.D., Ph.D. Barry Wolf, M.D., Ph.D. University of Utah University of Wisconsin Medical College of Virginia School of Medicine Madison, WI Richmond, VA Salt Lake City, UT Barbara J. Trask, Ph.D. Ronald G. Worton, Ph.D. Mary-Claire King, Ph.D. University of Washington The Hospital for Sick Children University of California Seattle, WA Toronto, Ontario Berkeley, CA

Volume 55 1994 Published Monthly for THE AMERICAN SOCIETY OF HUMAN GENETICS BY THE UNIVERSITY OF CHICAGO PRESS THE AMERICAN SOCIETY OF HUMAN GENETICS

BOARD OF DIRECTORS President Secretary President 1992 Maimon M. Cohen, Ph.D. Ann C. M. Smith, M.A. Walter E. Nance, M.D., Ph.D. University of Maryland Georgetown University Medical College of Virginia School of Medicine Washington, DC Richmond, VA Baltimore, MD Treasurer President 1993 President-Elect Stephen 1. Goodman, M.D. Janet D. Rowley, M.D. Judith G. Hall, M.D. University of Colorado Health University of Chicago University of British Columbia Sciences Center Chicago, IL Vancouver, BC Denver, CO

Editor Peter H. Byers, M.D. University of Washington School Of Medicine Seattle, WA

Directors Suzanne B. Cassidy, M.D. Robert L. Nussbaum, M.D. Ann P. Walker, M.A. Case Western Reserve University National Institutes of Health University of California School of Medicine Bethesda, MD Irvine, CA Cleveland, OH C. Ronald Scott, M.D. Huntington F. Willard, Ph.D. Thomas D. Gelehrter, M.D. University of Washington Case Western Reserve University University of Michigan Medical School of Medicine School of Medicine School Seattle, WA Cleveland, OH Ann Arbor, Ml Lap-Chee Tsui, Ph.D. Savio L. C. Woo, Ph.D. David H. Ledbetter, Ph.D. University of Toronto Baylor College of Medicine National Institutes of Health Toronto, Ontario Houston, TX Bethesda, MD

t 1994 by The American Society of Human Genetics Contents of Volume 55

July 1994

Invited Editorials I The Genetics of Human Limb Development Drucilla J. Roberts and Cliff Tabin 7 mtDNA and Native Americans: A Southern Perspective Rebecca L. Cann Original Articles 12 Fine Mapping of the Autosomal Dominant Split Hand/Split Foot Locus on Chromosome 7, Band q2 I .3-q22. 1 Stephen W. Scherer, Parvoneh Poorkaj, Todd Allen, Julia Kim, Dorrit Geshuri, Mark Nunes, Sylvia Soder, Karen Stephens, Roberta A. Pagon, Michael A. Patton, Mary Anne Berg, Tim Donlon, Horacio Rivera, R. A. Pfeiffer, Kenji Naritomi, Helen Hughes, Maurizio Genuardi, Fiorella Gurrieri, Giovanni Neri, Everett Lovrein, Ellen Magenis, Lap-Chee Tsui, and James P. Evans 21 Evidence for Locus Heterogeneity in Human Autosomal Dominant Split Hand/Split Foot Malformation Susan E. Palmer, Stephen W. Scherer, Mary Kukolich, Ellen M. Wijsman, Lap-Chee Tsui, Karen Stephens, and James P. Evans 27 Founder Mitochondrial Haplotypes in Amerindian Populations Gradela Bailliet, Francisco Rothhammer, Francisco Rau'l Carnese, Claudio Marcelo Bravi, and Nestor Oscar Bianchi 34 Canavan Disease: Mutations among Jewish and Non-Jewish Patients Rajinder Kaul, Guang P. Gao, Maria Aloya, Kuppareddi Balamurugan, Arlene Petrosky, Kimberlee Michals, and Reuben Matalon 42 Clustering of Mutations in Methylmalonyl CoA Mutase Associated with mut- Methylmalonic Acitmia Ana Maria Crane and Fred D. Ledley 5I Mutations Participating in Interallelic Complementation in Propionic Acidemia R. A. Gravel, B. R. Akerman, A.-M. Lamhonwah, M. Loyer, A. Leon-del-Rio, and 1. Italiano 59 Somatic Mosaicism for a Newly Identified Splice-Site Mutation in a Patient with Adenosine Deaminase-deficient Immunodeficiency and Spontaneous Clinical Recovery Rochelle Hirschhorn, Diana Ruixi Yang, Ajay Israni, Maryann L. Huie, and Dennis R. Ownby 69 A Mutation in the Neurofibromatosis Type 2 Tumor-suppressor Gene, Giving Rise to Widely Different Clinical Phenotypes iW'iwo Unrelated Individuals D. Bourn, S. A. Carter, D. G. R. Evans, J. Goodship, H. Coakham, and T. Strachan 74 Bloom Syndrome and Maternal Uniparental Disomy for Chromosome I5 Trevor Woodage, Madhuri Prasad, Joanne W. Dixon, Roslyn E. Selby, Dennis R. Romain, Letizia M. Columbano-Green, David Graham, Peter K. Rogan, James R. Seip, Arabella Smith, and Ronald J. Trent 81 Triplet Repeat Expansion at the FRAXE Locus and X-linked Mild Mental Handicap S. J. L. Knight, M. A. Voelckel, M. C. Hirst, A. V. Flannery, A. Moncla, and K. E. Davies

1317 1318 Contents of Volume 55

87 Small Marker X Chromosomes Lack the X Inactivation Center: Implications for Karyotype/ Phenotype Correlations Daynna J. Wolff, Carolyn J. Brown, Stuart Schwartz, Alessandra M. V. Duncan, Urvashi Surti, and Huntington F. Willard 96 DNA Replication Analysis of FMR I, XIST, and Factor 8C Loci by FISH Shows Nontranscribed X- linked Genes Replicate Late Beth S. Torchia, Linda M. Call, and Barbara R. Migeon 105 Heterogeneity Analysis in 40 X-linked Retinitis Pigmentosa Families P. W. Teague, M. A. Aldred, M. Jay, M. Dempster, C. Harrison, A. D. Carothers, L. J. Hardwick, H. J. Evans, L. Strain, D. J. H. Brock, S. Bundey, B. Jay, A. C. Bird, S. S. Bhattacharya, and A. F. Wright 112 Evidence of Autosomal Dominant Mutations in Childhood-Onset Proximal Spinal Muscular Atrophy Sabine Rudnik-Schoneborn, Brunhilde Wirth, and Klaus Zerres 120 Machado-Joseph Disease in Pedigrees of Azorean Descent Is Linked to Chromosome 14 P. St George-Hyslop, E. Rogaeva, J. Huterer, T. Tsuda, J. Santos, J. L. Haines, K. Schlumpf, E. 1. Rogaev, Y. Liang, D. R. Crapper McLachlan, J. Kennedy, J. Weissenbach, G. D. Billingsley, D. W. Cox, A. E. Lang, and J. R. Wherrett 126 Physical and Genetic Mapping of the Serpin Gene Cluster at 1 4q32. 1: Allelic Association and a Unique Haplotype Associated with a,-Antitrypsin Deficiency Barbara C. Byth, Gail D. Billingsley, and Diane W. Cox 134 Molecular Characterization of the Marker Chromosome Associated with Cat Eye Syndrome Alan J. Mears, Alessandra M. V. Duncan, Marcia L. Budarf, Beverly S. Emanuel, Beatrice Sellinger, Jacqueline Siegel-Bartelt, Cheryl R. Greenberg, and Heather E. McDermid 143 Homozygous Deletions on the Short Arm of Chromosome 9 in Ovarian Adenocarcinoma Cell Lines and Loss of Heterozygosity in Sporadic Tumors G. Chenevix-Trench, J. Kerr, M. Friedlander, T. Hurst, B. Sanderson, M. Coglan, B. Ward, J. Leary, and S.-K. Khoo 150 Chromosome Abnormalities in Human Arrested Preimplantation Embryos: A Multiple-Probe FISH Study S. Munne, J. Grifo, J. Cohen, and H.-U. G. Weier 160 Analysis of HLA Class 11 Haplotypes in the Cayapa Indians of Ecuador: A Novel DRB I Allele Reveals Evidence for Convergent Evolution and Balancing Selection at Position 86 E. A. Titus-Trachtenberg, 0. Rickards, G. F. De Stefano, and H. A. Erlich 168 Genetic Variation at the ApoB 3' HVR, D2S44, and D7S2 I Loci in the Ewondo Ethnic Group of Cameroon Giovanni Destro-Bisol, Silvano Presciuttini, Ernesto d'Aloja, Marina Dobosz, Gabriella Spedini, and Vincenzo L. Pascali 175 Evaluation of 13 Short Tandem Repeat Loci for Use in Personal Identification Applications Holly A. Hammond, Li Jin, Y. Zhong, C. Thomas Caskey, and Ranajit Chakraborty 190 Rapid and Efficient Resolution of Parentage by Amplification of Short Tandem Repeats R. L. Alford, H. A. Hammond, 1. Coto, and C. T. Caskey 196 Stored Guthrie Cards as DNA "Banks" Jean E. McEwen and Philip R. Reilly Obituary 201 Jerome Lejeune (1926-94): In Memoriam Frederick Hecht Contents of Volume 55 1319 Letters to the Editor 203 A Heteroplasmic LHON Family: Tissue Distribution and Transmission of the 11778 Mutation Neil Howell, M. Xu, Steven Halvorson, Ivan Bodis-Wollner, and Jerome Sherman 206 Single-Cell Analysis of Intercellular Heteroplasmy of mtDNA in Leber Hereditary Optic Neuropathy Yoko Kobayashi, Helen Sharpe, and Nigel Brown 209 Incontinentia Pigmenti Nomenclature Virginia P. Sybert

Book Review 212 Duchenne Muscular Dystrophy. By Alan E. H. Emery Reviewed by Anthony P. Monaco

Announcements 214 Employment Opportunities; Conferences, Workshops, and Symposia; Training Program; Twin Registry; Cell-Repository Catalog; Biological Material; Genetic Nomenclature for Mice 217 Errata

Information for Contributors

August 1994

Editorial 219 Mitochondrial Gene Mutations and Human Diseases: A Prolegomenon Neil Howell

Original Articles 225 A Multicenter Study on Genotype-Phenotype Correlations in the Fragile X Syndrome, Using Direct Diagnosis with Probe StB 12.3: The First 2,253 Cases F. Rousseau, D. Heitz, J. Tarleton, J. MacPherson, H. Malmgren, N. Dahl, A. Barnicoat, C. Mathew, E. Mornet, 1. Tejada, A. Maddalena, R. Spiegel, A. Schinzel, J. A. G. Marcos, D. F. Schorderet, T. Schaap, L. Maccioni, S. Russo, P. A. Jacobs, C. Schwartz, and J. L. Mandel 238 Cytologically Balanced t(2;20) in a Two-Generation Family with Alagille Syndrome: Cytogenetic and Molecular Studies Nancy B. Spinner, Elizabeth B. Rand, Paolo Fortina, Anna Genin, Rebecca Taub, Antonio Semeraro, and David A. Piccoli 244 Molecular and Clinical Correlations in Spinocerebellar Ataxia Type 1: Evidence for Familial Effects on the Age at Onset Laura P. W. Ranum, Ming-yi Chung, Sandro Banfi, Alan Bryer, Lawrence J. Schut, Raj Ramesar, Lisa A. Duvick, Alanna McCall, S. H. Subramony, Lev Goldfarb, Christopher Gomez, Lodewijk A. Sandkuijl, Harry T. Orr, and Huda Y. Zoghbi 253 Uniparental Isodisomy for Paternal 7p and Maternal 7q in a Child with Growth Retardation Faye A. Eggerding, Steven A. Schonberg, Farid F. Chehab, Mary E. Norton, Victoria A. Cox, and Charles J. Epstein 1320 Contents of Volume 55

266 Heterogeneous AVPR2 Gene Mutations in Congenital Nephrogenic Diabetes Insipidus Robert S. Wildin, Mark J. Antush, Robin L. Bennett, Jon M. Schoof, and C. Ronald Scott 278 and Recurrence of AVPR2 Mutations in X-linked Nephrogenic Diabetes Insipidus Daniel G. Bichet, Mariel Birnbaumer, Michele Lonergan, Marie-Francoise Arthus, Walter Rosenthal, Paul Goodyer, Hubert Nivet, Stephane Benoit, Philip Giampietro, Simonetta Simonetti, Alfred Fish, Chester B. Whitley, Philippe Jaeger, Joseph Gertner, Maria New, Francis J. DiBona, Bernard S. Kaplan, Gary L. Robertson, Geoffrey N. Hendy, T. Mary Fujiwara, and Kenneth Morgan 287 The Frequency of the C854 Mutation in the Aspartoacylase Gene in Ashkenazi Jews in Israel Orly N. Elpeleg, Yair Anikster, Varda Barash, David Branski, and Avraham Shaag 289 Recurrent Nonsense Mutations within the Type VII Collagen Gene in Patients with Severe Recessive Dystrophic Epidermolysis Bullosa Alain Hovnanian, Latifa Hilal, Claudine Blanchet-Bardon, Yves de Prost, Angela M. Christiano, Jouni Uitto, and Michel Goossens 297 Molecular Basis of Maple Syrup Urine Disease: Novel Mutations at the E I a Locus That Impair E I (a2P2) Assembly or Decrease Steady-State E I a mRNA Levels of Branched-Chain a-Keto Acid Dehydrogenase Complex Jacinta L. Chuang, Carolyn R. Fisher, Rody P. Cox, and David T. Chuang

305 Common Mutations in the Phosphofructokinase-M Gene in Ashkenazi Jewish Patients with Glycogenesis VII-and Their Population Frequency Jeffrey B. Sherman, Nina Raben, Catherine Nicastri, Zohar Argov, Hiromu Nakajima, Elizabeth M. Adams, Christine M. Eng, Tina M. Cowan, and Paul H. Plotz 314 Mutational Analysis of Patients with Neurofibromatosis 2 Mia MacCollin, Vijaya Ramesh, Lee B. Jacoby, David N. Louis, Mari-Paz Rubio, Karen Pulaski, James A. Trofatter, M. Priscilla Short, Catherine Bove, Roswell Eldridge, Dilys M. Parry, and James F. Gusella 321 Mutation Profiles of Phenylketonuria in Quebec Populations: Evidence of Stratification and Novel Mutations Rima Rozen, Allegra Mascisch, Marie Lambert, Rachel Laframboise, and Charles R. Scriver 327 Hereditary Tyrosinemia Type 1: Strong Association with Haplotype 6 in French Canadians Permits Simple Carrier Detection and Prenatal Diagnosis Sylvie 1. Demers, Daniel Phaneuf, and Robert M. Tanguay 334 Translocation Involving I p and 1 7q Is a Recurrent Genetic Alteration of Human Neuroblastoma Cells L. Savelyeva, R. Corvi, and M. Schwab

341 Recurrent 1; 17 Translocations in Human Neuroblastoma Reveal Nonhomologous Mitotic Recombination during the S/G2 Phase as a Novel Mechanism for Loss of Heterozygosity Huib Caron, Peter van Sluis, Nadine van Roy, Jan de Kraker, Frank Speleman, P. A. Vouite, Andries Westerveld, Rosalyn Slater, and Rogier Versteeg

348 Linkage Disequilibrium Patterns Vary with Chromosomal Location: A Case Study from the von Willebrand Factor Region W. S. Watkins, R. Zenger, E. O'Brien, D. Nyman, A. W. Eriksson, M. Renlund, and L. B. Jorde

356 Linkage Disequilibrium and Haplotype Studies of Chromosome 8p I 1. 1-21 .1 Markers and Werner Syndrome Chang-En Yu, Junko Oshima, Katrina A. B. Goddard, Tetsuro Miki, Jun Nakura, Toshio Ogihara, Martin Poot, Holger Hoehn, Marco Fraccaro, Charles Piussan, George M. Martin, Gerard D. Schellenberg, and Ellen M. Wijsman Contents of Volume 55 1321

365 Linkage Disequilibrium in the Region of the Autosomal Dominant Polycystic Kidney Disease Gene (PKDI) A. Snarey, S. Thomas, M. C. Schneider, S. E. Pound, N. Barton, A. F. Wright, P. C. Harris, S. T. Reeders, and A.-M. Frischauf 372 A YAC Contig Encompassing the Treacher Collins Syndrome Critical Region at 5q3 1.3-32 Jill Dixon, Amanda J. Gladwin, Stacie K. Loftus, John H. Riley, Rahat Perveen, John J. Wasmuth, Rakesh Anand, and Michael J. Dixon 379 Limits of Resolution of Genetic Linkage Studies: Implications for the Positional Cloning of Human Disease Genes Michael Boehnke 391 Nondetectabi.ity of Restriction Fragments and Independence of DNA Fragment Sizes Within and Between Loci in RFLP Typing of DNA Ranajit Chakraborty, Yixi Zhong, Li Jin, and Bruce Budowle 402 Comparison of Statistics for Candidate-Gene Association Studies Using Cases and Parents Daniel J. Schaid and Steve S. Sommer

Letters to the Editor 410 Pathological Significance of the mtDNA COX III Mutation at Nucleotide Pair 9438 in Leber Hereditary Optic Neuropathy Michael D. Brown, Antonio Torroni, Kirsi Huoponen, Yu-Sheng Chen, Marie T. Lott, and Douglas C. Wallace 410 Reply to Brown et al. Donald R. Johns 412 Familial Adenomatous Polyposis: Heterogeneity? John Burn and Pam Chapman 413 Reply to Burn and Chapman Alessandro Stella, Nicoletta Resta, and Ginevra Guanti 413 D-Loop mtDNA Deletion as a Unique Marker of Chibchan Amerindians Maria Santos and Ramiro Barrantes 414 Case-Parental Control Method in the Search for Disease-Susceptibility Genes Muin J. Khoury

Announcements 416 Employment Opportunities; Conferences and Workshops; Aging Cell Repository; Calls for Cases; Fungi Manual 419 Errata

Information for Contributors 1322 Contents of Volume 55 September 1994

Invited Editorial 421 The Behavior of Meiosis in Sperm Aravinda Chakravarti Original Articles 423 Multipoint Linkage Map of the Human Pseudoautosomal Region, Based on Single-Sperm Typing: Do Double Crossovers Occur during Male Meiosis? Karin Schmitt, Laura C. Lazzeroni, Simon Foote, Douglas Vollrath, Elizabeth M. C. Fisher, Tushar M. Goradia, Kenneth Lange, David C. Page, and Norman Arnheim 431 Multipoint Mapping Calculations for Sperm-typing Data Laura C. Lazzeroni, Norman Arnheim, Karin Schmitt, and Kenneth Lange 437 Maternally Inherited Hypertrophic Cardiomyopathy Due to a Novel T-to-C Transition at Nucleotide 9997 in the Mitochondrial tRNAg'ycite Gene Frank Merante, Ingrid Tein, Lee Benson, and Brian H. Robinson 447 Differential Allelic Expression of a Fibrillin Gene (FBN I) in Patients with Marfan Syndrome Duncan Hewett, Jennie Lynch, Anne Child, Helen Firth, and Bryan Sykes 453 Linkage Disequilibrium between the FES, DI5S127, and BLM Loci in Ashkenazi Jews with Bloom Syndrome Nathan A. Ellis, Anne Marie Roe, James Kozloski, Maria Proytcheva, Catherine Falk, and James German 461 Genetic Homogeneity of Pelizaeus Merzbacher Disease: Tight Linkage to the Proteolipoprotein Locus in 16 Affected Families 0. Boespflug-Tanguy, C. Mimault, J. Melki, A. Cavagna, G. Giraud, D. Pham Dinh, B. Dastugue, A. Dautigny, and the PMD Clinical Group 468 The DYT I Gene on 9q34 Is Responsible for Most Cases of Early Limb-Onset Idiopathic Torsion Dystonia in Non-Jews P. L. Kramer, G. A. Heiman, T. Gasser, L. J. Ozelius, D. de Leon, M. F. Brin, R. E. Burke, J. Hewett, A. L. Hunt, C. Moskowitz, T. G. Nygaard, K. C. Wilhelmsen, S. Fahn, X. 0. Breakefield, N. J. Risch, and S. B. Bressman

476 Molecular Mapping of the Edwards Syndrome Phenotype to Two Noncontiguous Regions on Chromosome 18 Leslie Boghosian-Sell, Reema Mewar, Wilbur Harrison, Raymond M. Shapiro, Elaine H. Zackai, John Carey, Laura Davis-Keppen, Louanne Hudgins, and Joan Overhauser

484 Phenotypic Variability in X-linked Ocular Albinism: Relationship to Linkage Genotypes Rhonda E. Schnur, Penelope A. Wick, Charles Bailey, Timothy Rebbeck, Richard G. Weleber, Joseph Wagstaff, Arthur W. Grix, Roberta A. Pagon, Athel Hockey, and Matthew J. Edwards

497 The Severe Phenotype of Females with Tiny Ring X Chromosomes Is Associated with Inability of These Chromosomes to Undergo X Inactivation Barbara R. Migeon, Shengyuan Luo, Mihir Jani, and Peter Jeppesen

505 Healing of Broken Human Chromosomes by the Addition of Telomeric Repeats J. Flint, C. F. Craddock, A. Villegas, D. P. Bentley, H. J. Williams, R. Galanello, A. Cao, W. G. Wood, H. Ayyub, and D. R. Higgs Contents of Volume 55 1323

513 VNTR Alleles Associated with the a-Globin Locus Are Haplotype and Population Related Jeremy J. Martinson, Anthony J. Boyce, and John B. Clegg 526 Linkage Disequilibrium in the Insulin Gene Region: Size Variation at the 5' Flanking Polymorphism and Bimodality among "Class I " Alleles Ralph E. McGinnis and Richard S. Spielman 533 A Reassessment of Frequency Estimates of Pvull-generated VNTR Profiles in a Finnish, an Italian, and a General U.S. Caucasian Database: No Evidence for Ethnic Subgroups Affecting Forensic Estimates Bruce Budowle, Keith L. Monson, and Alan M. Giusti 540 Combined Segregation and Linkage Analysis of Graves Disease with a Thyroid Autoantibody Diathesis Denis C. Shields, Suvina Ratanachaiyavong, Alan M. McGregor, Andrew Collins, and Newton E. Morton 555 Evidence for Mendelian Inheritance of Serum IgE Levels in Hispanic and Non-Hispanic White Families Fernando D. Martinez, Catharine J. Holberg, Marilyn Halonen, Wayne J. Morgan, Anne L. Wright, and Lynn M. Taussig

566 Clustering of Hypertension, Diabetes, and Obesity in Adult Male Twins: Same Genes or Same Environments? Dorit Carmelli, Lon R. Cardon, and Richard Fabsitz

574 Design and Sample-Size Considerations in the Detection of Linkage Disequilibrium with a Disease Locus Jane M. Olson and Ellen M. Wijsman

Letters to the Editor 581 Loci for Autosomal Dominant Retinitis Pigmentosa and Dominant Cystoid Macular Dystrophy on Chromosome 7p Are Not Allelic Chris Inglehearn, T. Jeffrey Keen, Mai Al-Maghtheh, and Shomi Bhattacharya 582 The Exact Numbers of Possible Microsatellite Motifs Li Jin, Yixi Zhong, and Ranajit Chakraborty 583 The Y-associated XY275G (Low) Allele Is Common among the Portuguese Joio Goncalves and Joio Lavinha 585 Haplotypes in Linkage Disequilibrium with the Hemochromatosis Gene Mark Worwood, M. Tevfik Dorak, and Ruma Raha-Chowdhury

586 Reply to Worwood et al. J. Yaouanq, M. Chorney, J. Y. le Gall, V. David, and P. Pontarotti 587 Genetic Structure of Forensic Populations Newton E. Morton 588 Genetic Factors That Protect against Dementia Clint Hirst, Irene M. L. Yee, and Adele D. Sadovnick 589 Reply to Hirst et al. Haydeh Payami, Kim Montee, and Jeffrey Kaye 1324 Contents of Volume 55 589 Regression to the Mean Does Not Exclude Anticipation and Unstable DNA Disease Arturas Petronis, Robin Sherrington, and James L. Kennedy 590 Reply to Petronis et al. M. Owen and P. Asherson 590 Reply to Petronis et al. Melvin G. McInnis, Francis J. McMahon, 0. Colin Stine, and Christopher A. Ross

Book Reviews 593 Human Cholinesterases and Anticholinesterases. By Hermona Soreq and Haim Zakut Reviewed by Bert N. La Du, Jr.

594 Essentials ofPrenatal Diagnosis. Edited by Joe Leigh Simpson and Sherman Elias Reviewed by Roger A. Williamson 595 Dealing with Genes: The Language ofHeredity. By Paul Berg and Maxine Singer Reviewed by James P. Evans

596 Rett Syndrome-Clinical and Biological Aspects. Edited by Bengt Hagberg, Maria Anvret, and Jan Wahlstr6m Reviewed by Uta Francke and Carolyn Schanen

Letter of Understanding 599 Letter of Understanding between The Canadian College of Medical Geneticists (CCMG) and The American Board of Medical Genetics (ABMG)

Announcements 600 Employment Opportunities; Symposium; Mapping Panel; Newsletter 602 Errata Information for Contributors

October 1994 Invited Editorial 603 Predictive Genetic Diagnosis Arno G. Motulsky Original Articles 606 Proceed with Care: Direct Predictive Testing for Huntington Disease C. M. Benjamin, S. Adam, S. Wiggins, J. L. Theilmann, T. T. Copley, M. Bloch, F. Squitieri, W. McKellin, S. Cox, S. A. Brown, H. P. H. Kremer, M. Burgess, W. Meshino, A. Summers, D. Macgregor, J. Buchanan, C. Greenberg, N. Carson, E. Ives, M. Frecker, J. P. Welch, A. Fuller, D. Rosenblatt, S. Miller, S. Dufrasne, M. Roy, E. Andermann, C. Prevost, M. Khalifa, K. Girard, S. Taylor, A. Hunter, C. Goldsmith, D. Whelan, D. Eisenberg, H. Soltan, J. Kane, M. H. K. Shokeir, A. Gibson, S. Cardwell, S. Bamforth, S. Grover, 0. Suchowersky, M. Klimek, T. Garber, H. A. Gardner, P. MacLeod, and M. R. Hayden Contents of Volume 55 1325 618 Predictive Testing for Huntington Disease: Nonparticipants Compared with Participants in the Dutch Program Ira M. van der Steenstraten, Aad Tibben, Raymund A. C. Roos, Jacques J. P. van de Kamp, and Martinus F. Niermeijer 626 Offering Cystic Fibrosis Carrier Screening to an HMO Population: Factors Associated with Utilization Ellen S. Tambor, Barbara A. Bernhardt, Gary A. Chase, Ruth R. Faden, Gail Geller, Karen J. Hofman, and Nell A. Holtzman 638 Osteogenesis Imperfecta Type 1: Molecular Heterogeneity for COL I A I Null Alleles of Type I Collagen Marcia C. Willing, Sachi P. Deschenes, Daryl A. Scott, Peter H. Byers, Rebecca L. Slayton, Sara H. Pitts, Huweida Arikat, and Erik J. Roberts 648 Patients with Autosomal Nephrogenic Diabetes Insipidus Homozygous for Mutations in the Aquaporin 2 Water-Channel Gene A. F. van Lieburg, M. A. J. Verdijk, V. V. A. M. Knoers, A. J. van Essen, W. Proesmans, R. Mallmann, L. A. H. Monnens, B. A. van Oost, C. H. van Os, and P. M. T. Deen 653 Novel Splice, Missense, and Nonsense Mutations in the Fumarylacetoacetase Gene Causing Tyrosinemia Type I Helge Rootwelt, Ruud Berger, George Gray, Deirdre Anne Kelly, Turgay Coskun, and Eli Anne Kvittingen 659 Mismatch Repair Genes on Chromosomes 2p and 3p Account for a Major Share of Hereditary Nonpolyposis Colorectal Cancer Families Evaluable by Linkage Minna Nystr6m-Lahti, Ramon Parsons, Pertti Sistonen, Lea Pylkkanen, Lauri A. Aaltonen, Fredrick S. Leach, Stanley R. Hamilton, Patrice Watson, Earlene Bronson, Ramon Fusaro, Jennifer Cavalieri, Jane Lynch, Stephen Lanspa, Tom Smyrk, Patrick Lynch, Thomas Drouhard, Kenneth W. Kinzler, Bert Vogelstein, Henry T. Lynch, Albert de la Chapelle, and Paivi Peltomaki 666 A Common Region of Deletion on Chromosome 1 7q in Both Sporadic and Familial Epithelial Ovarian Tumors Distal to BRCA I Andrew K. Godwin, Lisa Vanderveer, David C. Schultz, Henry T. Lynch, Deborah A. Altomare, Kenneth H. Buetow, Mary Daly, Lori A. Getts, Agnes Masny, Norman Rosenblum, Michael Hogan, Robert F. Ozols, and Thomas C. Hamilton

678 Genetic Mapping of a Locus for Multiple Epiphyseal Dysplasia (EDM2) to a Region of Chromosome I Containing a Type IX Collagen Gene Michael D. Briggs, HiChang Choi, Matthew L. Warman, John A. Loughlin, Paul Wordsworth, Bryan C. Sykes, Catherine M. M. Irven, Michael Smith, Ruth Wynne-Davies, Mark H. Lipson, Leslie G. Biesecker, Ann P. Garber, Ralph Lachman, Bjorn R. Olsen, David L. Rimoin, and Daniel H. Cohn 685 A New Nonsyndromic X-linked Sensorineural Hearing Impairment Linked to Xp2 1.2 Anil K. Lalwani, J. Rodney Brister, Jorgen Fex, Kenneth M. Grundfast, Anita T. Pikus, Barbara Ploplis, Theresa San Agustin, Hana Skarka, and Edward R. Wilcox

695 Defined Chromosomal Assignment of CLN5 Demonstrates That at Least Four Genetic Loci Are Involved in the Pathogenesis of Human Ceroid Lipofuscinoses Minna Savukoski, Marjo Kestila, Ruth Williams, Irma Jarvela, Julie Sharp, Juliette Harris, Pirkko Santavuori, Mark Gardiner, and Leena Peltonen

702 A Gene for Episodic Ataxia/Myokymia Maps to Chromosome 12p 13 M. Litt, P. Kramer, D. Browne, S. Gancher, E. R. P. Brunt, D. Root, T. Phromchotikul, C. J. Dubay, and J. Nutt

710 Non-Mendelian Transmission in a Human Developmental Disorder: Split Hand/Split Foot Gail Pairitz Jarvik, Michael A. Patton, Tessa Homfray, and James P. Evans 1326 Contents of Volume 55 714 A Population-based Study of Familial Alzheimer Disease: Linkage to Chromosomes 14, 19, and 21 C. M. van Duijn, L. Hendriks, L. A. Farrer, H. Backhovens, M. Cruts, A. Wehnert, A. Hofman, and C. Van Broeckhoven 728 Locus Heterogeneity for Waardenburg Syndrome Is Predictive of Clinical Subtypes Lindsay A. Farrer, Kathleen S. Arnos, James H. Asher, Jr., Clinton T. Baldwin, Scott R. Diehl, Thomas B. Friedman, Jacquie Greenberg, Kenneth M. Grundfast, Christopher Hoth, Anil K. Lalwani, Barbara Landa, Kate Leverton, Aubrey Milunsky, Robert Morell, Walter E. Nance, Valerie Newton, Rajkumar Ramesar, Valluri S. Rao, Jennifer E. Reynolds, Theresa B. San Agustin, Edward R. Wilcox, Ingrid Winship, and Andrew P. Read 738 HLA-linked Rheumatoid Arthritis Sandra J. Hasstedt, Daniel 0. Clegg, Linda Ingles, and Richard H. Ward 747 Paternal Isodisomy for Chromosome 7 Is Compatible with Normal Growth and Development in a Patient with Congenital Chloride Diarrhea Pia Hoglund, Christer Holmberg, Albert de la Chapelle, and Juha Kere 753 Cytogenetic and Molecular Characterization of Inverted Duplicated Chromosomes I5 from I I Patients Sou-De Cheng, Nancy B. Spinner, Elaine H. Zackai, and Joan H. M. Knoll 760 mtDNA and the Origin of Caucasians: Identification of Ancient Caucasian-specific Haplogroups, One of Which Is Prone to a Recurrent Somatic Duplication in the D-Loop Region Antonio Torroni, Marie T. Lott, Margaret F. Cabell, Yu-Sheng Chen, Leo Lavergne, and Douglas C. Wallace 777 Toward Fully Automated Genotyping: Allele Assignment, Pedigree Construction, Phase Determination, and Recombination Detection in Duchenne Muscular Dystrophy Mark W. Perlin, M. Blaine Burks, Rita C. Hoop, and Eric P. Hoffman 788 Polymorphic Admixture Typing in Human Ethnic Populations Michael Dean, J. Claiborne Stephens, Cheryl Winkler, Deborah A. Lomb, Mark Ramsburg, Raleigh Boaze, Claudia Stewart, Lauren Charbonneau, David Goldman, Bernard J. Albaugh, James J. Goedert, R. Palmer Beasley, Lu-Yu Hwang, Susan Buchbinder, Michael Weedon, Patricia A. Johnson, Mary Eichelberger, and Stephen J. O'Brien 809 Mapping by Admixture Linkage Disequilibrium in Human Populations: Limits and Guidelines J. Claiborne Stephens, David Briscoe, and Stephen J. O'Brien 825 The Power of Interval Mapping of Quantitative Trait Loci, Using Selected Sib Pairs Lon R. Cardon and David W. Fulker 834 Using Lod-Score Differences to Determine Mode of Inheritance: A Simple, Robust Method Even in the Presence of Heterogeneity and Reduced Penetrance David A. Greenberg and Barbara Berger 841 A Combined Test of Linkage Heterogeneity Darlene R. Goldstein Correction 849 Polymorphic Haplotyes and Recombination Rates at the LDL Receptor Gene Locus in Subjects With and Without Familial Hypercholesterolemia Who Are from Different Populations Andre R. Miserez, Herbert Schuster, Nicole Chiodetti, and Ulrich Keller Letters to the Editor 851 Genetic History of Phenylketonuria Mutations in Italy Irma Dianzani, S. Giannattasio, L. de Sanctis, E. Marra, A. Ponzone, C. Camaschella, and A. Piazza Contents of Volume 55 1327 853 Exclusion of Linkage between Autosomal Dominant Split Hand/Split Foot and Markers from Chromosome 7q: Further Evidence for Genetic Heterogeneity Fiorella Gurrieri, Maurizio Genuardi, Pietro Chiurazzi, Gabriele Gillessen-Kaesbach, and Giovanni Neri 855 Two-Locus versus One-Locus Lods for Complex Traits Pak C. Sham, Charles J. MacLean, and Kenneth S. Kendler

856 Reply to Sham et al. Nicholas J. Schork, Michael Boehnke, Joseph D. Terwilliger, and Jurg Ott

Book Review 859 Molecular Genetics ofSex Determination. Edited by Stephen S. Wachtel Reviewed by Robert P. Erickson

Announcements 860 Employment Opportunity; Meeting; Cell-Repository Catalog

Information for Contributors

November 1994

ASHG Statement on Breast- and Ovarian-Cancer Screening i Statement of The American Society of Human Genetics on Genetic Testing for Breast and Ovarian Cancer Predisposition

Invited Editorials 861 Inherited Predisposition to Breast and Ovarian Cancer Sarah Rowell, Beth Newman, Jeff Boyd, and Mary-Claire King 866 Genetic Modulation of Telomeric Terminal Restriction-Fragment Length: Relevance for Clonal Aging and Late-Life Disease George M. Martin Original Articles 870 Familial Site-specific Ovarian Cancer Is Linked to BRCA I on 1 7q 12-21 Elisabeth Steichen-Gersdorf, Holly H. Gallion, Deborah Ford, Catherine Girodet, Douglas F. Easton, Richard A. DiCioccio, Gareth Evans, Margaret A. Ponder, Carole Pye, Sylvie Mazoyer, Tetsuro Noguchi, Fabienne Karengueven, Hagay Sobol, A. Hardouin, Yves-jean Bignon, M. Steven Piver, Simon A. Smith, and Bruce A. J. Ponder 876 Genetic Determination of Telomere Size in Humans: A Twin Study of Three Age Groups P. Eline Slagboom, Simone Droog, and Dorret 1. Boomsma 883 Diverse Mutations in Patients with Menkes Disease Often Lead to Exon Skipping Soma Das, Barbara Levinson, Susan Whitney, Christopher Vulpe, Seymour Packman, and Jane Gitschier 1328 Contents of Volume 55 890 Independent Origins of Cystic Fibrosis Mutations R334W, R347P, R I 162X, and 3849+ 1 OkbC--T Provide Evidence of Mutation Recurrence in the CFTR Gene Nuria Morral, Roser Lievadot, Teresa Casals, Paolo Gasparini, Milan Macek, Jr., Thilo Dbrk, and Xavier Estivill 899 Alu-Alu Recombination Results in a Duplication of Seven Exons in the Lysyl Hydroxylase Gene in a Patient with the Type VI Variant of Ehlers-Danlos Syndrome Birgitta Pousi, Timo Hautala, Jarn Heikkinen, Leila Pajunen, Kari 1. Kivirikko, and Raili Myllyla 907 Cerebrotendinous Xanthomatosis in the Israeli Druze: Molecular Genetics and Phenotypic Characteristics Eran Leitersdorf, Rifaat Safadi, Vardiella Meiner, Ayeleth Reshef, Ingemar Bjorkhem, Yechiel Friedlander, Siman Morkos, and Vladimir M. Berginer 916 Genetic Analysis of a Kindred with X-linked Mental Handicap and Retinitis Pigmentosa M. A. Aldred, K. L. Dry, E. B. Knight-Jones, L. J. Hardwick, P. W. Teague, D. H. Lester, J. Brown, G. Spowart, A. D. Carothers, J. A. Raeburn, A. C. Bird, A. R. Fielder, and A. F. Wright 923 Segregation of FRAXE in a Large Family: Clinical, Psychometric, Cytogenetic, and Molecular Data Ben C. J. Hamel, Arie P. T. Smits, Esther de Graaff, Dominique F. C. M. Smeets, Frans Schoute, Bert H. J. Eussen, Samantha J. L. Knight, Kay E. Davies, Claire F. C. H. Assman-Hulsmans, and Ben A. Qostra 932 Evidence, from Family Studies, for Linkage Disequilibrium between TGFA and a Gene for Nonsyndromic Cleft Lip With or Without Cleft Palate Hongshu Feng, Russell Sassani, Scott P. Bartlett, Alice Lee, Jacqueline T. Hecht, Susan Malcolm, Robin M. Winter, G. M. Vintiner, Kenneth H. Buetow, and David L. Gasser 937 High-Resolution Linkage-Disequilibrium Mapping of the Cartilage-Hair Hypoplasia Gene Tuija Sulisalo, Jaakko Klockars, Outi Mikitie, Clair A. Francomano, Albert de la Chapelle, llkka Kaitila, and Pertti Sistonen 946 Refined Mapping of a Gene Responsible for Fukuyama-Type Congenital Muscular Dystrophy: Evidence for Strong Linkage Disequilibrium Tatsushi Toda, Shiro Ikegawa, Keiko Okui, Eri Kondo, Kayoko Saito, Yukio Fukuyama, Mieko Yoshioka, Toshiyuki Kumagai, Kaoru Suzumori, Ichiro Kanazawa, and Yusuke Nakamura 951 Molecular Analysis and Test of Linkage between the FMR- I Gene and Infantile Autism in Multiplex Families Joachim Hallmayer, Elizabeth Pintado, Linda Lotspeich, Donna Spiker, William McMahon, P. Brent Peterson, Peter Nicholas, Carmen Pingree, Helena C. Kraemer, Dona Lee Wong, Edward Ritvo, Alice Lin, Joan Hebert, Luigi L. Cavalli-Sforza, and Roland D. Ciaranello 960 Molecular Cytogenetic Characterization of 17 rob( I 3q I 4q) Robertsonian Translocations by FISH, Narrowing the Region Containing the Breakpoints Jin-Yeong Han, K. H. Andy Choo, and Lisa G. Shaffer 968 Molecular Characterization of De Novo Secondary Trisomy 13 Lisa G. Shaffer, Christopher McCaskill, Jin-Yeong Han, K. H. Andy Choo, Denise M. Cutillo, Alan E. Donnenfeld, Lester Weiss, and Daniel L. Van Dyke 975 Is the Flavin-deficient Red Blood Cell Common in Maremma, Italy, an Important Defense against Malaria in This Area? Barbara B. Anderson, Massimo Scattoni, Gillian M. Perry, Paola Galvan, Mirella Giuberti, Giuseppe Buonocore, and Calogero Vullo 981 Genetic Epidemiology of Vitiligo: Multilocus Recessivity Cross-validated Swapan K. Nath, Partha P. Majumder, and James J. Nordlund Contents of Volume 55 1329

991 Multiple Etiologies for Alzheimer Disease Are Revealed by Segregation Analysis Valluri S. Rao, Cornelia M. van Duijn, Linda Conner-Lacke, L. Adrienne Cupples, John H. Growdon, and Lindsay A. Farrer 1001 The Gender-specific Apolipoprotein E Genotype Influence on the Distribution of Plasma Lipids and Apolipoproteins in the Population of Rochester, MN. Ill. Correlations and Covariances Sharon L. Reilly, Robert E. Ferrell, and Charles F. Sing 1019 Cross-Trait Familial Resemblance for Body Fat and Blood Pressure: Familial Correlations in the Quebec Family Study Treva Rice, Mike Province, Louis Perusse, Claude Bouchard, and D. C. Rao 1030 Two-Locus Disease Models with Two Marker Loci: The Power of Affected-Sib-Pair Tests M. Knapp, S. A. Seuchter, and M. P. Baur 1042 Interactive Effect of Two Candidate Genes in a Disease: Extension of the Marker-Association-Segregation x2 Method Marie-Helene Dizier, Marie-Claude Babron, and Francoise Clerget-Darpoux

1050 A Familial Association between Twinning and Upper-Neural Tube Defects Berdj H. Garabedian and F. Clarke Fraser 1054 Coverage of Genetic Technologies under National Health Reform Maxwell J. Mehiman, Jeffrey Botkin, Alan Scarrow, Amy Woodhall, Julie Kass, and Ellen Siebenschuh

Letters to the Editor 1061 Refinement of the Cone-Rod Retinal Dystrophy Locus on Chromosome 1 9q Cheryl Y. Gregory, Kevin Evans, Joanne L. Whittaker, Alan Fryer, Jean Weissenbach, and Shomi S. Bhattacharya 1063 Features of mtDNA Mutation Patterns in European Pedigrees and Sporadic Cases with Leber Hereditary Optic Neuropathy Bert Obermaier-Kusser, Birgit Lorenz, Simona Schubring, Armin Paprotta, Klaus Zerres, Thomas Meitinger, Francoise Meire, Pascal Cochaux, Anita Blankenagel, Guntram Kommerell, Michaela Jaksch, and Klaus-Dieter Gerbitz

Book Reviews 1067 Cambridge Studies in Biological Anthropology. Edited by G. W. Lasker, C. G. N. Mascie-Taylor, D. F. Roberts, and R. A. Foley. Vol. 1: Kenneth M. Weiss. Genetic Variation and Human Disease: Principles and Evolutionary Approaches Reviewed by Friedrich Vogel 1068 Human Longevity. By David W. E. Smith Reviewed by George M. Martin

Announcements 1069 Employment and Fellowship Opportunities; Mutant-Cell Repository Catalog; Glycogen Storage Disease Type IV Registry

Information for Contributors 1330 Contents of Volume 55 December 1994 Invited Editorial 1073 Parental Origin Effects, Genome Imprinting, and Sex-Ratio Distortion: Double or Nothing? Carmen Sapienza Original Articles 1076 Parent-of-Origin Effects in Multiple Endocrine Neoplasia Type 2B Katrin M. Carlson, John Bracamontes, Charles E. Jackson, Robin Clark, Andre Lacroix, Samuel A. Wells, Jr., and Paul J. Goodfellow 1083 A Compound-Heterozygous Marfan Patient: Two Defective Fibrillin Alleles Result in a Lethal Phenotype Leena Karttunen, Michael Raghunath, Lasse Lonnqvist, and Leena Peltonen 1092 Germ-Line Mutations in the von Hippel-Lindau Tumor-Suppressor Gene Are Similar to Somatic von Hippel-Lindau Aberrations in Sporadic Renal Cell Carcinoma Jean M. Whaley, Joseph Naglich, Lawrence Gelbert, Y. Edward Hsia, James M. Lamiell, Jane S. Green, Debra Collins, Hartmut P. H. Neumann, Jana Laidlaw, Fred P. Li, Andres J. P. Klein-Szanto, Bernd R. Seizinger, and Nikolai Kley 1103 Mutations in Argininosuccinate Synthetase mRNA of Japanese Patients, Causing Classical Citrullinemia Keiko Kobayashi, Nazma Shaheen, Hiroki Terazono, and Takeyori Saheki 1113 Identification and DNA Sequence Analysis of I5 New a,-Antitrypsin Variants, Including Two PI*QO Alleles and One Deficient PP*M Allele Jakob-Peter Faber, Wolfgang Poller, Sebastian Weidinger, Michael Kirchgesser, Rainer Schwaab, Frank Bidlingmaier, and Klaus Olek 1122 Identification of a Frequent Pseudodeficiency Mutation in the Fumarylacetoacetase Gene, with Implications for Diagnosis of Tyrosinemia Type I Helge Rootwelt, Else Brodtkorb, and Eli Anne Kvittingen 1128 Expression, in Cartilage, of a 7-Amino-Acid Deletion in Type 11 Collagen from Two Unrelated Individuals with Kniest Dysplasia R. Bogaert, D. Wilkin, W. R. Wilcox, R. Lachman, D. Rimoin, D. H. Cohn, and D. R. Eyre 1 137 A Defect in the Metabolic Activation of Sulfate in a Patient with Achondrogenesis Type I B Andrea Superti-Furga 1146 Linkage of Autosomal Recessive Lamellar Ichthyosis to Chromosome 1 4q L. J. Russell, J. J. DiGiovanna, N. Hashem, J. G. Compton, and S. J. Bale 1153 A Gene for Distal Arthrogryposis Type I Maps to the Pericentromeric Region of Chromosome 9 M. Bamshad, W. S. Watkins, R. K. Zenger, J. F. Bohnsack, J. C. Carey, B. Otterud, P. A. Krakowiak, M. Robertson, and L. B. Jorde 1159 Localization of Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex to 1 7q2 1-22 K. C. Wilhelmsen, T. Lynch, E. Pavlou, M. Higgins, and T. G. Nygaard 1 166 Genetic Heterogeneity of Familial Hemiplegic Migraine A. Joutel, A. Ducros, K. Vahedi, P. Labauge, 0. Delrieu, N. Pinsard, J. Mancini, G. Ponsot, F. Gouttiere, J. L. Gastaut, J. Maziaceck, J. Weissenbach, M. G. Bousser, and E. Tournier-Lasserve Contents of Volume 55 1331

1 173 Clinical Diversity and Chromosomal Localization of X-linked Cone Dystrophy (COD I) Hee-Kyung Hong, Robert E. Ferrell, and Michael B. Gorin 1182 High-Resolution Meiotic and Physical Mapping of the Best Vitelliform Macular Dystrophy (VMD2) Locus to Pericentromeric Chromosome I I Bernhard H. F. Weber, Gudrun Vogt, Heidi Stohr, Stefanie Sander, Diane Walker, and Carol Jones 1188 Refining the Region of Branchio-Oto-Renal Syndrome and Defining the Flanking Markers on Chromosome 8q by Genetic Mapping Shrawan Kumar, William J. Kimberling, Christopher J. Connolly, Sue Tinley, Henri A. M. Marres, and Cor W. R. J. Cremers 1195 Evidence That the Saethre-Chotzen Syndrome Locus Lies between D7S664 and D7S507, by Genetic Analysis and Detection of a Microdeletion in a Patient Amy Feldman Lewanda, Eric D. Green, Jean Weissenbach, Heather Jerald, Eugene Taylor, Marshall L. Summar, John A. Phillips 111, Melinda Cohen, Murray Feingold, Wendy Mouradian, Sterling K. Clarren, and Ethylin Wang Jabs 1202 A Stable Acentric Marker Chromosome: Possible Existence of an Intercalary Ancient Centromere at Distal 8p Hirofumi Ohashi, Keiko Wakui, Kiyoshi Ogawa, Tetsuroh Okano, Norio Niikawa, and Yoshimitsu Fukushima 1209 Complex Repetitive Arrangements of Gene Sequence in the Candidate Region of the Spinal Muscular Atrophy Gene in Sq 13 A. M. Theodosiou, K. E. Morrison, A. M. Nesbit, R. J. Daniels, L. Campbell, M. J. Francis, Z. Christodoulou, and K. E. Davies 1218 Association between Ag I-CA Alleles and Severity of Autosomal Recessive Proximal Spinal Muscular Atrophy Christine J. DiDonato, Kenneth Morgan, John D. Carpten, Paul Fuerst, Susan E. Ingraham, Gary Prescott, John D. McPherson, Brunhilde Wirth, Klaus Zerres, Orest Hurko, John J. Wasmuth, Jerry R. Mendell, Arthur H. M. Burghes, and Louise R. Simard 1230 Analysis of HLA and Disease Susceptibility: Chromosome 6 Genes and Sex Influence Long-QT Phenotype Lowell R. Weitkamp, Arthur J. Moss, Raymond A. Lewis, W. J. Hall, Jean W. MacCluer, Peter J. Schwartz, Emanuela H. Locati, Dan Tzivoni, G. Michael Vincent, Jennifer L. Robinson, and Sally A. Guttormsen 1242 Chromosomal Breakage in Human Spermatozoa, a Heterozygous Effect of the Bloom Syndrome Mutation Renee H. Martin, Alfred Rademaker, and James German 1247 Multiple DNA Variant Association Analysis: Application to the Insulin Gene Region in Type I Diabetes C. Julier, A. Lucassen, P. Villedieu, M. Delepine, C. Levy-Marchal, P. M. Danze, F. Bianchi, C. Boitard, P. Froguel, J. Bell, and G. M. Lathrop

1255 Genetic and Environmental Correlations among Serum Lipids and Apolipoproteins in Elderly Twins Reared Together and Apart Debra A. Heller, Nancy L. Pedersen, Ulf de Faire, and Gerald E. McClearn 1268 Diversity of Ethnic and Racial VNTR RFLP Fixed-Bin Frequency Distributions John Hartmann, Robert Keister, Bruce Houlihan, Lisa Thompson, Russell Baldwin, Edward Buse, Bonnie Driver, and Margaret Kuo

Letters to the Editor 1279 De Novo Mutation in Three Families with Multigenerational Incontinentia Pigmenti Angela Scheuerle, Richard A. Lewis, Moise L. Levy, and David L. Nelson 1332 Contents of Volume 55 1281 Refining the Map and Defining Flanking Markers of the Gene for Autosomal Recessive Polycystic Kidney Disease on Chromosome 6p2 1. I-p 12 Gabi Mucher, Brunhilde Wirth, and Klaus Zerres 1284 On the Diversity of P-Globin Mutations, a Reflection of Recent Historic Events in Israel Dominique Labie, Jacques Elion, and Cherif Beldjord 1285 Reply to Labie et al. Arlella Oppenheim, Dvora Filon, Deborah Rund, and Haig Kazazian Book Review 1286 Issues and Reviews in Teratology. Vol. 6. Edited by Harold Kalter Reviewed by Richard H. Finnell

Announcements 1288 Employment Opportunities; Postgraduate Course; Calls for Patients; Cell Repository 1290 Editorial Reviewers for 1994 1294 Books Received 1297 Author Index to Volume 55 1304 Subject Index to Volume 55 1315 Contents of Volume 55 Information for Contributors Information for Contributors

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On a separate, unnumbered page, list up to six key Goldstein JL, Brown MS (eds) The metabolic basis of inherited words that describe the paper for indexing purposes. disease, 5th ed. McGraw-Hill, New York, pp 672-712 * Title page. This page should contain a concise title; a running title of no more than 40 characters (including spaces); the names Entire Volume: Dayhoff MV (ed) (1978) Atlas ofprotein sequence and institutional affiliations of all authors at the time of the study and structure. Vol 5, suppl 3. National Biomedical Research (and present affiliations if changed); and the corresponding au- Foundation, Washington, DC thor's name, complete current mailing address, telephone num- ber, and fax number. Meeting Paper: Novacek MJ, Wyss AR (1985) Morphology, mol- * Summary (abstract). The summary should state the purpose ecules, and eutherian phylogeny: the search for congruence. 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Line 1. MEMBERSHIP CATEGORIES Regular Membership is open to any resident of the Americas (U.S., Canada, Mexico, Caribbean, Central and South America) who is interested in research in human genetics or in issues pertaining to human genetics. Overseas Affiliate Status is open to individuals residing outside the Americas (U.S., Canada, Mexico, Caribbean, Central and South America). Husband/Wife Membership is open to couples who are both regular members, but who receive only one Journal subscription. Please fill out one membership application for each person. Student Membership is open to postdoctoral fellows and bona fide students enrolled in degree-granting programs at institutions in the Americas (U.S., Canada, Mexico, Caribbean, Central and South America). DISCOUNT SUBSCRIPTIONS To obtain these discounts, orders must be placed through the ASHG Administrative Office. It is understood that these orders are intended for personal use only. Standing orders are not available through ASHG. Typically, publishers will begin mailing issues to you one or two months after your order is received in the Administrative Office. Annual Reviews will be mailed at the book rate in the month of issue. Line 3. Cancer Genetics and Cytogenetics, 14 issues, list price $1,421. Member price $469 US/$574 elsewhere. Line 4. Clinical Dysmorphology, 4 issues, list price $89, Member price $70. Line 5. Current Biology, 12 issues, list price $123, Member price $103. Line 6. Current Opinion in Cell Biology, 6 issues, list price $158, Member price $129. Line 7. Current Opinion in Genetics & Development, 6 issues, list price $158, Member price $129. Line 8. DNA and Cell Biology, 12 issues, list price $129.95 US/$185 foreign, Member price $110.95 US/$153 elsewhere. Line 9. European Journal of Human Genetics, 6 issues, list price $332.50, Member price $135 Europe/$139 elsewhere. Line 10. Genetic Epidemiology, 6 issues, list price $125 N. America/$155 elsewhere, Member price $77 N. America/$107 elsewhere. Line 11. Genomics, 18 issues, list price $698 US/Canada, $760 elsewhere, Member price $203 US and Canada/$238 elsewhere. Line 12. Human Gene Therapy, 12 issues, list price $195.95 US/$240 elsewhere, Member price $163.95 US/$197 elsewhere. Line 13. Human Genetics, 12 issues, list price $2,226, Member price $395. Line 14. Human Heredity, 6 issues, list price $166.30, Member price $103 Europe/$105 elsewhere. Line 15. Human Molecular Genetics, 12 issues, list price $160, Member price $133. Line 16. Journal of Medical Genetics, 12 issues, list price $304, Member price $178. Line 17. Nature Genetics, 12 issues, list price $195 US, Canada, Mexico, Member price $166 US, Canada, Mexico/$225 elsewhere (except Japan). Line 18. Pharmacogenetics, 6 issues, list price $99, Member price $85. Line 19. Prenatal Diagnosis, 13 issues, list price $745, Member price $365. Line 20. Trends in Genetics, 12 issues, list price $115. Member price $92. Line 21. Annual Reviews. List prices vary from $44 to $57. Member discounts average about 20%1o. Annual Review of: Genetics Microbiol Cell Biol Ecol & Sys Immunol Medicine Publ HIth Biochem Member Price* 1993 Volumes Vol. 27 Vol. 47 Vol. 9 Vol. 24 Vol. 11 Vol. 44 Vol. 14 Vol. 62 $36 per copy 1994 Volumes Vol. 28 Vol. 48 Vol. 10 Vol. 25 Vol. 12 Vol. 45 Vol. 15 Vol. 63 $38 per copy 1995 Volumes Available late 1995, will be offered on 1996 dues notice. Vol. 13 Vol. 46 Vol. 16 Vol. 64 $38 per copy Month of Publication Dec. Oct. Nov. Nov. April April May July *Members outside US add $4. California residents add applicable sales tax. Canadian residents add $4 and 7% GST on total.

LINE 22. OPTIONAL CONTRIBUTION. Optional contributions to the general fund are welcome. Monies received will support projects designed to attract more young people to the field of human genetics. This contribution is tax deductible to the extent permitted by law. THE AMERICAN SOCIETY OF HUMAN GENETICS was organized in 1948. Its purpose is to encourage research in human genetics and to bring into closer association investigators in Canada, Mexico, and the United States who are interested in human genetic research and related issues. The present bylaws were adopted in 1987. The board of directors consists of the president, president-elect, secretary, treasurer, editor, the two most recent past presidents, and nine other directors.

BOARD OF DIRECTORS President Secretary President 1992 Maimon M. Cohen, Ph.D. Ann C. M. Smith, M.A. Walter E. Nance, M.D., Ph.D. University of Maryland Georgetown University Medical College of Virginia School of Medicine Washington, DC Richmond, VA Baltimore, MD Treasurer President 1993 President-Elect Stephen 1. Goodman, M.D. Janet D. Rowley, M.D. Judith G. Hall, M.D. University of Colorado Health University of Chicago University of British Columbia Sciences Center Chicago, IL Vancouver, BC Denver, CO

Editor Peter H. Byers, M.D. University of Washington School of Medicine Seattle, WA

Directors Suzanne B. Cassidy, M.D. Robert L. Nussbaum, M.D. Ann P. Walker, M.A. Case Western Reserve University National Institutes of Health University of California School of Medicine Bethesda, MD Irvine, CA Cleveland, OH C. Ronald Scott, M.D. Huntington F. Willard, Ph.D. Thomas D. Gelehrter, M.D. University of Washington Case Western Reserve University University of Michigan Medical School of Medicine School of Medicine School Seattle, WA Cleveland, OH Ann Arbor, Ml Lap-Chee Tsui, Ph.D. Savio L. C. Woo, Ph.D. David H. Ledbetter, Ph.D. University of Toronto Baylor College of Medicine National Institutes of Health Toronto, Ontario Houston, TX Bethesda, MD