MENDELIAN GENETICS and Χ2 Teacher Packet
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(APOCI, -C2, and -E and LDLR) and the Genes C3, PEPD, and GPI (Whole-Arm Translocation/Somatic Cell Hybrids/Genomic Clones/Gene Family/Atherosclerosis) A
Proc. Natl. Acad. Sci. USA Vol. 83, pp. 3929-3933, June 1986 Genetics Regional mapping of human chromosome 19: Organization of genes for plasma lipid transport (APOCI, -C2, and -E and LDLR) and the genes C3, PEPD, and GPI (whole-arm translocation/somatic cell hybrids/genomic clones/gene family/atherosclerosis) A. J. LUSIS*t, C. HEINZMANN*, R. S. SPARKES*, J. SCOTTt, T. J. KNOTTt, R. GELLER§, M. C. SPARKES*, AND T. MOHANDAS§ *Departments of Medicine and Microbiology, University of California School of Medicine, Center for the Health Sciences, Los Angeles, CA 90024; tMolecular Medicine, Medical Research Council Clinical Research Centre, Harrow, Middlesex HA1 3UJ, United Kingdom; and §Department of Pediatrics, Harbor Medical Center, Torrance, CA 90509 Communicated by Richard E. Dickerson, February 6, 1986 ABSTRACT We report the regional mapping of human from defects in the expression of the low density lipoprotein chromosome 19 genes for three apolipoproteins and a lipopro- (LDL) receptor and is strongly correlated with atheroscle- tein receptor as well as genes for three other markers. The rosis (15). Another relatively common dyslipoproteinemia, regional mapping was made possible by the use of a reciprocal type III hyperlipoproteinemia, is associated with a structural whole-arm translocation between the long arm of chromosome variation of apolipoprotein E (apoE) (16). Also, a variety of 19 and the short arm of chromosome 1. Examination of three rare apolipoprotein deficiencies result in gross perturbations separate somatic cell hybrids containing the long arm but not of plasma lipid transport; for example, apoCII deficiency the short arm of chromosome 19 indicated that the genes for results in high fasting levels oftriacylglycerol (17). -
Harnessing the Power of Epigenetics for Targeted Nutrition
SPONSOR FEATURE SPONSOR FEATURE NESTLÉ RESEARCH: Harnessing the power of epigenetics for targeted nutrition Authors Diet and genomes interact. Because of its contin- products that are nutritious, safe, promote and Martin Kussmann*, Jennifer Dean*, uous and lifelong impact, nutrition might be the maintain health, and prevent disease. With the Rondo P. Middleton†, Peter J. van most important environmental factor for human advent and development of many new technolo- Bladeren* & Johannes le Coutre* health. Molecular nutrition research strives gies, molecular nutrition research has opened to understand this interaction. Nutrigenetics up new doors of understanding – not only con- *Nestlé Research Center, addresses how an individual’s genetic make-up cerning which dietary components may impact 1000 Lausanne 26, Switzerland. leads to a predisposition for nutritional health; an organism’s health, but also how. These new †Nestlé Purina Research, St. Louis, MO, nutrigenomics (encompassing transcriptomics, insights have allowed a greater understanding 63164 USA. proteomics and metabonomics) asks how nutri- of the systems involved at multiple levels, from tion modulates gene expression; and epigenetics whole animal to the cellular and molecular lev- provides insights into a new level of regulation els. Although challenges in this area still remain, involving mechanisms of development, parental the main focus continues to be the improvement gene imprinting and metabolic programming that of health through diet. Modern molecular nutri- are beyond genetic control. tional research aims at health promotion, dis- Tailoring diets and nutrient compositions to the ease prevention, performance improvement and needs of consumer groups that share the same benefit-risk assessment1. health state, life stage or life style is a main goal Nutrition has conventionally been considered of current nutritional research. -
The Relationship of PSAT/NMSQT Scores and AP Examination Grades
Research Notes Office of Research and Development RN-02, November 1997 The Relationship of PSAT/NMSQT Scores and AP® Examination Grades he PSAT/NMSQT, which measures devel- Recent analyses have shown that student per- oped verbal and quantitative reasoning, as formance on the PSAT/NMSQT can be useful in Twell as writing skills generally associated identifying additional students who may be suc- with academic achievement in college, is adminis- cessful in AP courses. PSAT/NMSQT scores can tered each October to nearly two million students, identify students who may not have been initially the vast majority of whom are high school juniors considered for an AP course through teacher or and sophomores. PSAT/NMSQT information has self-nomination or other local procedures. For been used by high school counselors to assist in many AP courses, students with moderate scores advising students in college planning, high school on the PSAT/NMSQT have a high probability of suc- course selection, and for scholarship awards. In- cess on the examinations. For example, a majority formation from the PSAT/NMSQT can also be very of students with PSAT/NMSQT verbal scores of useful for high schools in identifying additional 46–50 received grades of 3 or above on nearly all of students who may be successful in Advanced the 29 AP Examinations studied, while over one- Placement courses, and assisting schools in deter- third of students with scores of 41–45 achieved mining whether to offer additional Advanced grades of 3 or above on five AP Examinations. Placement courses. There are substantial variations across AP subjects that must be considered. -
The Circular Genetic Map of Phage 813 by Ron Baker and Irwin Tessman
THE CIRCULAR GENETIC MAP OF PHAGE 813 BY RON BAKER AND IRWIN TESSMAN DEPARTMENT OF BIOLOGICAL SCIENCES, PURDUE UNIVERSITY, LAFAYETTE, INDIANA Communicated by S. E. Luria, July 24, 1967 Because of its small size1 phage S13 is suitable for a study of all its genes and their functions. With this aim, conditionally lethal mutants of the suppressible (su) and temperature-sensitive (t) type have been isolated and classified into seven complementation groups, and the general function of five of the genes implicitly defined by these complementation groups has been determined.8-10 This paper is concerned with the mapping of the seven known phage genes, with the ultimate aim of understanding both the organization of the phage genome and the mechanism by which it undergoes genetic recombination. Although the DNA molecule of S13, as shown for the closely related phage ,X174, is physically circular both in the single-stranded form of the mature virus11 and in the double-stranded replicative form,12' 13 this does not necessarily imply that the genetic map should also be circular since circular DNA is neither necessary nor sufficient for genetic circularity. On the one hand, a linear DNA molecule can give rise to a circular genetic map if the nucleotide sequences are circularly permuted;14 an example is the T2-T4 phage system.'5-17 On the other hand, a circular DNA can yield a linear map if recombination involves opening of the ring at a unique site, as seems to occur for phage X, which forms a closed DNA molecule after infections yet has a linear vegetative and prophage genetic map.19 In this report it will be shown that the genetic map of S13, as determined entirely by 3-factor crosses, is indeed circular, and, as might be expected for a circular genome, the occurrence of double recombination events appears to be the rule. -
Expression-Based Genetic/Physical Maps of Single-Nucleotide Polymorphisms Identified by the Cancer Genome Anatomy Project
Downloaded from genome.cshlp.org on October 11, 2021 - Published by Cold Spring Harbor Laboratory Press Resource Expression-based Genetic/Physical Maps of Single-Nucleotide Polymorphisms Identified by the Cancer Genome Anatomy Project Robert Clifford, Michael Edmonson, Ying Hu, Cu Nguyen, Titia Scherpbier, and Kenneth H. Buetow1 Laboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 USA SNPs (Single-Nucleotide Polymorphisms), the most common DNA variant in humans, represent a valuable resource for the genetic analysis of cancer and other illnesses. These markers may be used in a variety of ways to investigate the genetic underpinnings of disease. In gene-based studies, the correlations between allelic variants of genes of interest and particular disease states are assessed. An extensive collection of SNP markers may enable entire molecular pathways regulating cell metabolism, growth, or differentiation to be analyzed by this approach. In addition, high-resolution genetic maps based on SNPs will greatly facilitate linkage analysis and positional cloning. The National Cancer Institute’s CGAP-GAI (Cancer Genome Anatomy Project Genetic Annotation Initiative) group has identified 10,243 SNPs by examining publicly available EST (Expressed Sequence Tag) chromatograms. More than 6800 of these polymorphisms have been placed on expression-based integrated genetic/physical maps. In addition to a set of comprehensive SNP maps, we have produced maps containing single nucleotide polymorphisms in genes expressed in breast, colon, kidney, liver, lung, or prostate tissue. The integrated maps, a SNP search engine, and a Java-based tool for viewing candidate SNPs in the context of EST assemblies can be accessed via the CGAP-GAI web site (http://cgap.nci.nih.gov/GAI/). -
HUMAN GENE MAPPING WORKSHOPS C.1973–C.1991
HUMAN GENE MAPPING WORKSHOPS c.1973–c.1991 The transcript of a Witness Seminar held by the History of Modern Biomedicine Research Group, Queen Mary University of London, on 25 March 2014 Edited by E M Jones and E M Tansey Volume 54 2015 ©The Trustee of the Wellcome Trust, London, 2015 First published by Queen Mary University of London, 2015 The History of Modern Biomedicine Research Group is funded by the Wellcome Trust, which is a registered charity, no. 210183. ISBN 978 1 91019 5031 All volumes are freely available online at www.histmodbiomed.org Please cite as: Jones E M, Tansey E M. (eds) (2015) Human Gene Mapping Workshops c.1973–c.1991. Wellcome Witnesses to Contemporary Medicine, vol. 54. London: Queen Mary University of London. CONTENTS What is a Witness Seminar? v Acknowledgements E M Tansey and E M Jones vii Illustrations and credits ix Abbreviations and ancillary guides xi Introduction Professor Peter Goodfellow xiii Transcript Edited by E M Jones and E M Tansey 1 Appendix 1 Photographs of participants at HGM1, Yale; ‘New Haven Conference 1973: First International Workshop on Human Gene Mapping’ 90 Appendix 2 Photograph of (EMBO) workshop on ‘Cell Hybridization and Somatic Cell Genetics’, 1973 96 Biographical notes 99 References 109 Index 129 Witness Seminars: Meetings and publications 141 WHAT IS A WITNESS SEMINAR? The Witness Seminar is a specialized form of oral history, where several individuals associated with a particular set of circumstances or events are invited to meet together to discuss, debate, and agree or disagree about their memories. The meeting is recorded, transcribed, and edited for publication. -
What Is a Recessive Allele?
What Is a Recessive Allele? WernerG. Heim ONE of the commonlymisunderstood and misin- are termedthe dominant[dominirende], and those terpreted concepts in elementary genetics is that which becomelatent in the processrecessive [reces- sive]. The expression"recessive" has been chosen of dominance and recessiveness of alleles. Many becausethe charactersthereby designated withdraw students in introductory courses perceive the idea or entirelydisappear in the hybrids,but nevertheless that the dominant form of a gene is somehow stron- reappear unchanged in their progeny ... (Mendel ger than the recessive form and, when they are 1950,p. 8) together in a heterozygote, the dominant allele sup- Two important concepts are presented here: (1) presses the action of the recessive one. This belief is Statements about dominance and recessiveness are Downloaded from http://online.ucpress.edu/abt/article-pdf/53/2/94/44793/4449229.pdf by guest on 27 September 2021 not only incorrectbut it can lead to a whole series of statements about the appearanceof characters,about further errors. Students, for example, often errone- what is seen or can be detected, not about the ously conclude that because the dominant allele is the underlying genetic situation; (2) The relationship stronger, it therefore ought to become more common between two alleles of a gene falls on a continuous in the course of evolution. scale from one of complete dominance and recessive- There are other common misconceptions, among ness to a complete lack thereof. In the latter case, the them that: expression of both alleles is seen in either of two ways 1) Dominance operates at the genotypic level. -
Basic Genetic Terms for Teachers
Student Name: Date: Class Period: Page | 1 Basic Genetic Terms Use the available reference resources to complete the table below. After finding out the definition of each word, rewrite the definition using your own words (middle column), and provide an example of how you may use the word (right column). Genetic Terms Definition in your own words An example Allele Different forms of a gene, which produce Different alleles produce different hair colors—brown, variations in a genetically inherited trait. blond, red, black, etc. Genes Genes are parts of DNA and carry hereditary Genes contain blue‐print for each individual for her or information passed from parents to children. his specific traits. Dominant version (allele) of a gene shows its Dominant When a child inherits dominant brown‐hair gene form specific trait even if only one parent passed (allele) from dad, the child will have brown hair. the gene to the child. When a child inherits recessive blue‐eye gene form Recessive Recessive gene shows its specific trait when (allele) from both mom and dad, the child will have blue both parents pass the gene to the child. eyes. Homozygous Two of the same form of a gene—one from Inheriting the same blue eye gene form from both mom and the other from dad. parents result in a homozygous gene. Heterozygous Two different forms of a gene—one from Inheriting different eye color gene forms from mom mom and the other from dad are different. and dad result in a heterozygous gene. Genotype Internal heredity information that contain Blue eye and brown eye have different genotypes—one genetic code. -
AP Biology Flash Review Is Designed to Help Howyou Prepare to Use Forthis and Book Succeed on the AP Biology Exam
* . .AP . BIOLOGY. Flash review APBIOL_00_ffirs_i-iv.indd 1 12/20/12 9:54 AM OTHER TITLES OF INTEREST FROM LEARNINGEXPRESS AP* U.S. History Flash Review ACT * Flash Review APBIOL_00_ffirs_i-iv.indd 2 12/20/12 9:54 AM AP* BIOLOGY . Flash review ® N EW YORK APBIOL_00_ffirs_i-iv.indd 3 12/20/12 9:54 AM The content in this book has been reviewed and updated by the LearningExpress Team in 2016. Copyright © 2012 LearningExpress, LLC. All rights reserved under International and Pan American Copyright Conventions. Published in the United States by LearningExpress, LLC, New York. Printed in the United States of America 987654321 First Edition ISBN 978-1-57685-921-6 For more information or to place an order, contact LearningExpress at: 2 Rector Street 26th Floor New York, NY 10006 Or visit us at: www.learningexpressllc.com *AP is a registered trademark of the College Board, which was not involved in the production of, and does not endorse, this product. APBIOL_00_ffirs_i-iv.indd 4 12/20/12 9:54 AM Contents 1 . .. 11 IntRoDUCtIon 57 . ... A. 73 . ... B. 131 . ... C. 151 . .... D. 175 . .... e. 183 . .... F. 205 . .... G. 225 . .... H. 245 . .... I. 251 . .... K. 267 . .... L. 305 . .... M. [ v ] . .... n. APBIOL_00_fcont_v-viii.indd 5 12/20/12 9:55 AM 329 343 . .... o. 411 . .... P. 413 . .... Q. 437 . .... R. 489 . .... s. 533 . .... t. 533 . .... U. 539 . .... V. 541 . .... X. .... Z. [ vi ] APBIOL_00_fcont_v-viii.indd 6 12/20/12 9:55 AM * . .AP . BIOLOGY. FLAsH.ReVIew APBIOL_00_fcont_v-viii.indd 7 12/20/12 9:55 AM Blank Page 8 APBIOL_00_fcont_v-viii.indd 8 12/20/12 9:55 AM IntroductIon The AP Biology exam tests students’ knowledge Aboutof core themes, the AP topics, Biology and concepts Exam covered in a typical high school AP Biology course, which offers students the opportunity to engage in college-level biology study. -
Basic Genetic Concepts & Terms
Basic Genetic Concepts & Terms 1 Genetics: what is it? t• Wha is genetics? – “Genetics is the study of heredity, the process in which a parent passes certain genes onto their children.” (http://www.nlm.nih.gov/medlineplus/ency/article/002048. htm) t• Wha does that mean? – Children inherit their biological parents’ genes that express specific traits, such as some physical characteristics, natural talents, and genetic disorders. 2 Word Match Activity Match the genetic terms to their corresponding parts of the illustration. • base pair • cell • chromosome • DNA (Deoxyribonucleic Acid) • double helix* • genes • nucleus Illustration Source: Talking Glossary of Genetic Terms http://www.genome.gov/ glossary/ 3 Word Match Activity • base pair • cell • chromosome • DNA (Deoxyribonucleic Acid) • double helix* • genes • nucleus Illustration Source: Talking Glossary of Genetic Terms http://www.genome.gov/ glossary/ 4 Genetic Concepts • H describes how some traits are passed from parents to their children. • The traits are expressed by g , which are small sections of DNA that are coded for specific traits. • Genes are found on ch . • Humans have two sets of (hint: a number) chromosomes—one set from each parent. 5 Genetic Concepts • Heredity describes how some traits are passed from parents to their children. • The traits are expressed by genes, which are small sections of DNA that are coded for specific traits. • Genes are found on chromosomes. • Humans have two sets of 23 chromosomes— one set from each parent. 6 Genetic Terms Use library resources to define the following words and write their definitions using your own words. – allele: – genes: – dominant : – recessive: – homozygous: – heterozygous: – genotype: – phenotype: – Mendelian Inheritance: 7 Mendelian Inheritance • The inherited traits are determined by genes that are passed from parents to children. -
'Morbid Anatomy' of the Human Genome
Med. Hist. (2014), vol. 58(3), pp. 315–336. c The Author 2014. Published by Cambridge University Press 2014 doi:10.1017/mdh.2014.26 The ‘Morbid Anatomy’ of the Human Genome: Tracing the Observational and Representational Approaches of Postwar Genetics and Biomedicine The William Bynum Prize Essay ANDREW J. HOGAN* Department of History, Humanities Center 225, Creighton University, 2500 California Plaza, Omaha, NE 68178, USA Abstract: This paper explores evolving conceptions and depictions of the human genome among human and medical geneticists during the postwar period. Historians of science and medicine have shown significant interest in the use of informational approaches in postwar genetics, which treat the genome as an expansive digital data set composed of three billion DNA nucleotides. Since the 1950s, however, geneticists have largely interacted with the human genome at the microscopically visible level of chromosomes. Mindful of this, I examine the observational and representational approaches of postwar human and medical genetics. During the 1970s and 1980s, the genome increasingly came to be understood as, at once, a discrete part of the human anatomy and a standardised scientific object. This paper explores the role of influential medical geneticists in recasting the human genome as being a visible, tangible, and legible entity, which was highly relevant to traditional medical thinking and practice. I demonstrate how the human genome was established as an object amenable to laboratory and clinical research, and argue that the observational and representational approaches of postwar medical genetics reflect, more broadly, the interdisciplinary efforts underlying the development of contemporary biomedicine. Keywords: Medical genetics, Biomedicine, Human genome, Chromosomes, Morbid anatomy Introduction In 1982, Victor McKusick, Physician-in-Chief of the Johns Hopkins University School of Medicine, published a commentary entitled, ‘The Human Genome Through the Eyes of a Clinical Geneticist’. -
Glossary/Index
Glossary 03/08/2004 9:58 AM Page 119 GLOSSARY/INDEX The numbers after each term represent the chapter in which it first appears. additive 2 allele 2 When an allele’s contribution to the variation in a One of two or more alternative forms of a gene; a single phenotype is separately measurable; the independent allele for each gene is inherited separately from each effects of alleles “add up.” Antonym of nonadditive. parent. ADHD/ADD 6 Alzheimer’s disease 5 Attention Deficit Hyperactivity Disorder/Attention A medical disorder causing the loss of memory, rea- Deficit Disorder. Neurobehavioral disorders character- soning, and language abilities. Protein residues called ized by an attention span or ability to concentrate that is plaques and tangles build up and interfere with brain less than expected for a person's age. With ADHD, there function. This disorder usually first appears in persons also is age-inappropriate hyperactivity, impulsive over age sixty-five. Compare to early-onset Alzheimer’s. behavior or lack of inhibition. There are several types of ADHD: a predominantly inattentive subtype, a predomi- amino acids 2 nantly hyperactive-impulsive subtype, and a combined Molecules that are combined to form proteins. subtype. The condition can be cognitive alone or both The sequence of amino acids in a protein, and hence pro- cognitive and behavioral. tein function, is determined by the genetic code. adoption study 4 amnesia 5 A type of research focused on families that include one Loss of memory, temporary or permanent, that can result or more children raised by persons other than their from brain injury, illness, or trauma.