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

Journal Article · · Am. J. Hum. Genet.; (United States)
OSTI ID:5671392
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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.
Research Organization:
Radiation Effects Research Foundation, Hiroshima, Japan
OSTI ID:
5671392
Journal Information:
Am. J. Hum. Genet.; (United States), Journal Name: Am. J. Hum. Genet.; (United States) Vol. 35:4; ISSN AJHGA
Country of Publication:
United States
Language:
English

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Related Subjects

560151* -- Radiation Effects on Animals-- Man
63 RADIATION, THERMAL, AND OTHER ENVIRON. POLLUTANT EFFECTS ON LIVING ORGS. AND BIOL. MAT.
A-BOMB SURVIVORS
ANIMALS
ASIA
BIOLOGICAL EFFECTS
BIOLOGICAL RADIATION EFFECTS
BIOLOGY
ELECTROPHORESIS
ENZYMES
FEMALES
GENETICS
GENOTYPE
HIROSHIMA
HUMAN POPULATIONS
INJURIES
JAPAN
MALES
MAMMALS
MAN
NUCLEAR WEAPONS
PHENOTYPE
POPULATIONS
PRIMATES
RADIATION EFFECTS
RADIATION INJURIES
VERTEBRATES
WEAPONS