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105 ]3*Jx~-~ 27 []:;k:~-~;~ (1982) Abstracts of Papers Communicated at the 27th Annual Meeting of the Japan Society of Human Genetics, 1982 -- ~ ~ i~ General Contribution A1. The Classification and Counting up of Congenital Anomalies: Kazumi NMTO (Dept. Matern. Child Health, Univ. Tokyo, Tokyo), Ichiro MATSUI (Dept. Genet., Inst. Develop. Res., Aichi Pref. Colony, Kasugai) and Munehiro HIRA- YAMA (Dept. Matern. Child Health, Univ. Tokyo, Tokyo) It is the base of medical and social measures against congenital anomalies to know the actual circumstances of their occurrences. As one step of searching for the ways to know the actual occurrences of congenital anomalies, we have tried to make and applied practi- cally a list of congenital anomalies. The list was made by picking up congenital anomalies out of the all items of The International Classification of Diseases (I.C.D.) with reference to "Nelson Pediatrics." Consequently, 312 items including 190 ones belonged to the Chapter XIV of I.C.D., "Congenital Anomalies" were listed up. And fnrther, 131 con- genital anomalies classified together with acquired diseases in the other items were con- firmed. Secondly, we tried to apply only the list of 312 items of congenital anomalies to the statistics of diseases on 4,347 children who have admitted to Kanagawa Children's Medical Center in the fiscal year of 1980. The number of impatients whose primary reason for admitting were diseases belonged to the Chapter XIV, mainly included congenital malfor- mations, were 1,286 (29.58 %). They were 426 impatients whose main diseases belonged to "Anomalies of heart and circulatory system," 233 of "Anomalies of genito urinary system," 168 of "Anomalies of musku!oskeletal system" and so on. And 1,825 impatients (41.98%), including 1,286 ones above mentioned, were counted up according to our list. As congenital anomalies in the other chapters, 205 of "Congenital strabismus," 203 of "In- guinal hernia," 32 of "Coagulation defects," 23 of "Haemongioma and lymphangioma," 16 of "Haemolytic disease of fetus, according to isoimmunization," 11 of "Congenital hypothroidism," and so on were found. The necessity of intentional devices to grasp the actual occurrences of congenital anomalies, and the gravity of them in the medicine for children of high level were shown. Vol. 28, No, 2, 1983 106 EI~J~@~ 27 NIJ~-~' (1982) :fi=~:~N ~'lrS~ (~,~;k" ~ ,j,~), =~-'7- (~,~-N:~), ~ ~ ~ (r Prevalence Rate and Etiology of Mental Retardation in the Different Year in Kurume City: Y. SHIOTSUKI, T. MATSUISHI, F. YAMASHITA (Dept. Pediat., Kurume Univ., Kurume), K. YOSHIMURA (Kurume PuNic Health Cent., Kurume), K. YANO and H. TOKIMASA (Kurume Infant Edu. Cent., Kurume) 49 @~ $ ~'tr-/~ L?c~ P~ 21,622 J\-~,~ 5 LTh. ~N~,~-~N~)~,~. ~.~itN N f~gN~N75, ~ ft. A3. J]~l~l~:lJ~,~ (Gyrate atrophy of the ehoroid and retina) ~'O~r~O'):~ : ~Yg~-~, .-~.Jl[~*')"~" ~ ~ (Jl~'~;~ J~,~@. Estimation of the Gene Frequency and the Prevalence of Gyrate Atrophy of the Choroid and Retina in Japan: K. FUJIKI, M. HAYAKAWA and A. NAKAJIMA (Dept. Ophthal., Juntendo Univ., Tokyo) A, ornithine ketoacid transaminase(OKT) L~zLf#~ < 7_ ~ ~N ~7)qnf~: ;SzY P--= yy~ 1 ,IN%@.~8:~-c/s:z)~,vfc. 13 ~N~NN}~ 9 ~ (69%) ~cNNa ~73~ 0.4615, b,2 ~.N7~N75~WN 2FE 5 % 1 ~7462 aN2 bfc3 ~, k=0.5385, 2 ~J~75t~ %rob,3 75~ ~ 0. 0016~0. 0030, @~NN (3.6~ 11.0) x 10-% (9~28) 7YJ~m 1 .&, 3~N~ 400~1,300 Z,~g~LRc. 2 rYN.,~@r169 g~# b, @~169 < ~:~'-d-,:i5:6. Jpn. J. Human Genet. ~--= i~i)ll g~ (~< et- 5- .< (N~). A Statistical Analysis of Birth Defects in New- bores, 1948-1981: Y. IMAIZUMI (Inst. Pop. Prob., Tokyo), H. YAMAMURA and M. NISHIKAWA (St. Barnabas' Hosp,, Osaka) 1948 ~zb~ 1981 ~2" 34 ~c-~'~b~c 110,785 :~.r_, ~ 1)NN]I;)~ A5, A Preliminary Report on Kanagawa Birth Defects Monitoring Program (KAMP): Yoshikazn KUROKI, Hiroshi KONISHI, Minorn MAEDA, Akio TSUNODA, Yoshiaki TERAMICHI (Kanagawa Child. Med. Cent., Yokohama), Fumio TADOKORO, Kenji ADACHI and Shinichi YAGI (Kanagawa Soc. Obstet. Gynecol., Yokohama) There were two types of monitoring systems, namely, population-based and hospital- based. Though the Tokyo Area Birth Defects Monitoring Program (hospital-based) has participated in the activities of the International Clearinghouse for Birth Defects Monitor- ing Systems, no population-based monitoring systems exist in Japan prior to 1981. Kana- gawa Birth Defects Monitoring Program has been in operation since October 1981 as the first population-based monitoring systems in Japan. In this program, 48 marker malfor- mations and other major surface anomalies are monitored for all births (live births and stillbirths) within 7 days after birth. The program covers about 45,000 through 50,000 births per year in Kanagawa Prefecture. The overall frequency of the individuals with major surface anomalies was 1.2%. Stillbirth, low birth weight and small for dates are proved to increase the incidence of congenital malformations. A guide-book distributed to all participating maternity hospitals plays an extremely important role in increasing the completeness of ascertainment of malformations and in keeping the accuracy of diag- nosis. Vol. 28, No. 2, 1983 108 N;s~ANS~f~-~ 27 NI;i~-~N:~ (1982) A Model for Registry of Birth Defects: Ichiro MATSUI (Aichi Pref. Colony, Kasugai) ~)ll~ (J~ 6 75, ~a[~ 700) ~, 1974 ~-Z ~) Y~b~F~ ~{~'~ -~zg. ~'$ o?,:. A7. ~'[~ ~ ~ ~ ~ ~ ,~ -~t ~ ~" ~ : ~m~-- (;~ ~). Statistical Methods in a Surveillance System of Congenital Abnormalities, with a Special Referenee to Inherited Metabolic Diseases in Japan. Norikazu YASUDA (Div. Genet. Natl. Inst. Radiol. Sci., Chiba) ~tfc. Jpn. J. Human Genet. -- ~ ~ ~ 109 A8. Study of Genetic Effects of Occupational Exposure to Mustard Gas (1): Miklo FUJITA, Kaznaki GORIKI, Chiyoko SATOH, Howard B. HAMILTON (RERF, Hiroshima), Miehio YAMAKIDO, Tsutomu INAMIZU, Kiyoshi ONARI, Yukio NISHIMOTO (Dept. Intern. Med., Hiroshima Univ.) and Takuzo SHIGENOBU (Health Cent., Hiroshima Univ., Hiroshima) It is well known that former workers of the Ohkuno-jima poison gas factory located in Takehara City in Hiroshima Prefecture were exposed to mutagens such as sulphur mustard gas of relatively high concentration. Cancer prevalence among these people is significantly elevated. We are at present studying the genetic effects of exposure to this gas at the protein level, among the children of these individuals. This report describes the results of our search for rare variants conducted mainly by use of starch gel electrophoresis of peripheral blood samples obtained from 456 children born during employment and after termination of these former workers. In examining 5 serum protein systems, HbA1 arid HbA~, one variant of al-AT with slow migration rate, one variant of al-AT with fast migration rate, 5 variants of Tf with fast migration rate, 3 variants of Hp with fast migra- tion rate and one variant of Hp with slow migration rate were detected. Of the 23 types of erythrocyte enzymes, the following rare variants were detected: In the Np system 3 cases, PGM1 2 cases, PGM2 2 cases, GPI 3 cases, GPT 12 cases, GOT 2 cases and CAI one case. GPI one case and PGM2 2 cases are rare variants which have not yet been detected in the RERF "F1 Genetics Study" sample. Family study has been completed on 32 cases, atl of which were confirmed to have been inherited from one parent. Fre- quency of the rare variants was found to be 2.6/1,000. A9. Probability Distributien of Coefficient of Consanguinity in an Isolate Population: A. KUDO (Dept. Math., Kyushu Univ., Fukuoka), S. AZUMA, K. HAYASHI (Dept. Applied Math., Tokyo Sci. Univ., Tokyo), N. FUJIKI (Intern. Med., Fukui Med., Sch.), I. NISHIGAI~ (Aichi PreL Colony, Kasugai) and K. MANO (Fukui Med. Sch., Fukui) This paper is motivated by a question, "Are people in an isolate population marrying randomly?" From a pedigree of an isolate population in Japan, we selected those who are at age 20-29 at the time of survey. There are 52 families with 135 children. We examined the relation between the inbreeding coefficient and sibship size, and there was found no correlation. The average coefficient of consanguinity of 52 parents are nearly equal to the average inbreeding coefficient of 135 children, which are about 0.0195. We then computed coefficients of consanguinity for all possible 52x 52=2,704 pairs and the average is 0.00793. in order to test the difference between the actual value 0.0195 and the expected value 0.00793, a certain mathematical theory was developed. There are 52!=8.07x 10 .7 possibilities when the 52 males are to marry to those 52 females, and Vo!. 28, No. 2, 1983 110 I~!;~A.~:~-~ 27 IN~2~' (1982) equal probabilities are assigned to these possibilities, and we computed an approximate upper tail probability for the value 0.0195, which is about 0.0078, showing significance. This indicates that people did not marry randomly in the above sense. Generally it is believed there have been some socio-economic factors in Japanese society which makes consanguineous marriages more frequent than in other countries. The above analysis indicates that the same factors were valid in this isolate population. A10. Rare Variants of Er~hrocyte Enzymes in Japanese of H[roshima and Nagasaki Defected by Starch Gel Electrophoresis. I. Phosphoglucomutasel (PGM1): &rake KANEKO, Naomi MASUNARI, Yasukazu KIMURA, Miklo FUJITA, Kazuaki GORIKI, Takeshi KAGEOKA, Norio TAKAHASHI, Chiyoko SATOH (RERF, Hiroshima), Ryaji HAZAMA, Shotaro NERIISHI and Sadahisa KAWAMOTO (RERF, Nagasaki) Starch gel electrophoretic study of the erythrocyte enzymes of children of proximally and distally exposed parents in Hiroshima and Nagasaki has been performed, to evaluate the potential genetic effects of atomic bomb radiation. This report describes hereditary electrophoretic variants of PGM~ encountered during this screening. No mutant of PGMt has thus far been encountered.