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

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 lackin...

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Published inAmerican journal of human genetics Vol. 35; no. 4; pp. 656 - 674
Main Authors SATOH, C, NEEL, J. V, YAMASHITA, A, GORIKI, K, FUJITA, M, HAMILTON, H. B
Format Journal Article
LanguageEnglish
Published Chicago, IL University of Chicago Press 01.07.1983
Subjects
Biological and medical sciences
Chemical mutagenesis
Enzymes - deficiency
Enzymes - genetics
Female
Genetic Carrier Screening
Genetic Variation
Heterozygote
Humans
Japan
Male
Medical sciences
Mutation
Nuclear Warfare
Phenotype
Radiation Injuries - enzymology
Radiation Injuries - genetics
Toxicology
Specific activity
Heterozygozity
Progeny
Asia
Enzyme
Family study
Deficiency
Japan
Genetic variant
Nuclear explosion
Frequency
Mutation
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Summary: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.
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ISSN:0002-9297
1537-6605