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Title: The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes

Abstract

Eleven human enzymes, chosen for this study because of relatively small coefficients of variation for mean activity, have been surveyed for the frequency with which activities less than or equal to 66% of the mean value occur. This criterion should detect almost all heterozygotes for variants lacking any activity plus a fraction of the persons with variants characterized by markedly depressed activity and/or instability. The enzymes surveyed are TPI, PGK, AK1, LDH, GAPD, GPI, PK, 6PGD, G6PD, GOT1, and HK. The number of determinations per enzyme ranged from 310 to 3,173, for a total of 26,634 determinations. Family studies have thus far been possible in 52 instances in which the initial observation of activity less than or equal to 66% of normal was confirmed. In every instance, a parent exhibited a similar finding, giving confidence that a true genetic entity was being detected. With this approach, the frequency of heterozygotes per 1,000 determinations varied from 0.0 (AK1, 6PGD) to 13.8 (PK), with an average of 2.4. For these same systems, in this laboratory the frequency of ''rare'' electrophoretic variants is 2.3/1,000, the ratio of the latter to the former thus being 1.0 in Japanese. Our experience with these deficiency phenotypesmore » to date suggests that for selected enzymes such phenotypes can be incorporated into a program designed to detect mutational events.« less

Authors:
; ; ; ; ;
Publication Date:
Research Org.:
Radiation Effects Research Foundation, Hiroshima, Japan
OSTI Identifier:
5671392
Resource Type:
Journal Article
Journal Name:
Am. J. Hum. Genet.; (United States)
Additional Journal Information:
Journal Volume: 35:4
Country of Publication:
United States
Language:
English
Subject:
63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.; A-BOMB SURVIVORS; GENETICS; ENZYMES; GENOTYPE; ELECTROPHORESIS; FEMALES; HIROSHIMA; JAPAN; MALES; MAN; NUCLEAR WEAPONS; PHENOTYPE; RADIATION INJURIES; ANIMALS; ASIA; BIOLOGICAL EFFECTS; BIOLOGICAL RADIATION EFFECTS; BIOLOGY; HUMAN POPULATIONS; INJURIES; MAMMALS; POPULATIONS; PRIMATES; RADIATION EFFECTS; VERTEBRATES; WEAPONS; 560151* - Radiation Effects on Animals- Man

Citation Formats

Satoh, C, Neel, J V, Yamashita, A, Goriki, K, Fujita, M, and Hamilton, H B. The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes. United States: N. p., 1983. Web.
Satoh, C, Neel, J V, Yamashita, A, Goriki, K, Fujita, M, & Hamilton, H B. The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes. United States.
Satoh, C, Neel, J V, Yamashita, A, Goriki, K, Fujita, M, and Hamilton, H B. Fri . "The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes". United States.
@article{osti_5671392,
title = {The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes},
author = {Satoh, C and Neel, J V and Yamashita, A and Goriki, K and Fujita, M and Hamilton, H B},
abstractNote = {Eleven human enzymes, chosen for this study because of relatively small coefficients of variation for mean activity, have been surveyed for the frequency with which activities less than or equal to 66% of the mean value occur. This criterion should detect almost all heterozygotes for variants lacking any activity plus a fraction of the persons with variants characterized by markedly depressed activity and/or instability. The enzymes surveyed are TPI, PGK, AK1, LDH, GAPD, GPI, PK, 6PGD, G6PD, GOT1, and HK. The number of determinations per enzyme ranged from 310 to 3,173, for a total of 26,634 determinations. Family studies have thus far been possible in 52 instances in which the initial observation of activity less than or equal to 66% of normal was confirmed. In every instance, a parent exhibited a similar finding, giving confidence that a true genetic entity was being detected. With this approach, the frequency of heterozygotes per 1,000 determinations varied from 0.0 (AK1, 6PGD) to 13.8 (PK), with an average of 2.4. For these same systems, in this laboratory the frequency of ''rare'' electrophoretic variants is 2.3/1,000, the ratio of the latter to the former thus being 1.0 in Japanese. Our experience with these deficiency phenotypes to date suggests that for selected enzymes such phenotypes can be incorporated into a program designed to detect mutational events.},
doi = {},
journal = {Am. J. Hum. Genet.; (United States)},
number = ,
volume = 35:4,
place = {United States},
year = {1983},
month = {7}
}