The frequency in Japanese of genetic variants of 22 proteins: IV. Acid phosphatase, NADP‐isocitrate dehydrogenase, peptidase A, peptidase B and phosphohexose isomerase

Abstract

This paper presents the results of an electrophoretic survey of approximately 4000 individuals from Hiroshima and Nagasaki for four erythrocyte enzymes: isocitrate dehydrogenase, peptidase A, peptidase B, and phosphohexose isomerase. Also reported are the results for erythrocyte acid phosphatase for a subset of these individuals. The frequencies for the ACPA1 and ACPB1 alleles of the ACP1 locus are in agreement with previously reported results from Japanese populations. Rare variants of ICDS, PEPA, PEPB and PHI occur with frequencies varying from 0.25 to 7.2 per 1000 determinations. The relatively high frequency of the PHI 4HIR1 variant and some unusual features involving the effect of reducing agent on the electrophoretic pattern behaviour of some of the rare PHI variants detected during this study are discussed.

Genetic heterogeneity within an electrophoretic phenotype of phosphoglucose isomerase in a Japanese population

“…Starch-gel electrophoresis was performed according to the method of Detter et al (1968). The 35 propositi demonstrating the variant phenotypes were ascertained through a population survey reported previously (Tanis et al 1977). For this study, specimens from k s t degree relatives whose electrophoretic phenotypes of GPI were the same as those of the propositi were available for 10 of 27 variants.…”

“…The thermostability of electrophoretically normal GPI (phenotype 1) and five variant phenotypes detected by the starch-gel electrophoresis in the previous population study of Japanese (Tanis et al 1977) was examined. Duplicate aliquots of the samples were heated at 47, 49.5 and 52.5 "C for 10 and 30 min and the activities remaining were determined as percentages of the original activity of the unheated sample.…”

“…Subsequently, the frequency of GPI variants was studied in a variety of populations (Shinoda, 1970; Tariverdian et al 1971; Terrenato et al 1971 ; Omoto & Blake, 1972; Ishimoto & Kuwata, 1974). Although the incidence of these variants was in general rare, some ethnic populations showed comparatively high frequencies for these variant phenotypes (Welch, 1971; Ishimoto, 1975; Tanis et al 1977). In a study of Japanese residing in Hiroshima and Nagasaki, 5 electrophoretic variant phenotypes were observed in 35 unrelated individuals in a sample of 4029 observations (Tanis et al 1977).…”

Electrophoretic variants of blood proteins in Japanese I. Phosphoglucomutase-2 (PGM2)

“…Since all the subjects in this population, 3,066 from Hiroshima and 1,583 from Nagasaki, were born before the bombing, their protein structure would not have been affected by radiation exposure, and therefore the data obtained from exposed and non-exposed individuals were combined. Inasmuch as results of earlier electrophoretic studies performed on 4,029 samples from the Adult population have already been reported Ueda et al, 1977;Satoh et al, 1977;Tanis et al, 1978;Neel et al, 1978), in this and subsequent papers description of the characteristics of rare variants is restricted to those encountered in 620 individuals who were examined after the five reports cited above were published; however, the number of each of variant is counted on the basis of the entire number of individuals examined, which differs from system dpn. d. Human Genet.…”

Electrophoretic variants of blood proteins in Japanese VII. Cytoplasmic glutamate-oxaloacetate transaminase (GOT1)

“…= 1, 0.20 < p < 0.30) are not statistically significant even though Nagasaki is located south-west of Hiroshima. Nevertheless, populations from Hiroshima and Nagasaki have been considered to be genetically different on the basis of significant differences in the frequencies of certain types of variants of phosphoglucomutase-1 (PGM1) and glucose phosphate isomerase (GPI) between the two cities (Satoh et al, 1984;Tanis et aL, 1978). To explain the discrepancy in frequency of GOT1 variants compared with PGM1 and GPI, one may speculate that mutations producing GOTI*3NG1 and GOTI*4NG1 alleles as well as GOTI*2HR1 allele probably occurred and spread among Mongoloid populations, and some of them subsequentl~r migrated to the Japanese Archipelago, while mutations producing rare alleles of PGM1 or GPI might have occurred among peoples who migrated at later times to the Japanese Islands from southern Asia or southern Pacific area.…”