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Biomedical subjects

C Satoh

Publications and source records attributed to C Satoh.

At least 91 records · Page 5Linked to original sources

Electrophoretic variants of blood proteins in Japanese. IV. Prevalence and enzymologic characteristics of glucose-6-phosphate dehydrogenase variants in Hiroshima and Nagasaki.

Electrophoretic screening of glucose-6-phosphate dehydrogenase (EC 1.1.1.49, G6PD) was conducted one sample of 9,260 children born to the atomic bomb survivors in Hiroshima (Honshu) and Nagasaki (Kyushu). The prevalence of electrophoretic variants was 0.11% in males and 0.42% in females in Hiroshima, and 0.16% in males and 0.31% in females in Nagasaki. Enzymologic characteristics of 10 variants obtained from three males and seven hemizygous fathers of heterozygous females were examined. As a result, three new types of G6PD variants were identified among five variants detected in Hiroshima, and three new types among five variants in Nagasaki. All the variants except one belonged to Class 3, as defined by Yoshida et al. (1971).

Adolescent↗

Inherited thermostability variants of seven enzymes in a Japanese population.

The frequency of inherited variations in thermostability was investigated in a series of seven enzymes in a Japanese population. Among a total of 5930 determinations, nine variants were encountered. In each instance one parent exhibited a similar finding. It is suggested that this procedure should detect a high proportion of the variants of these enzymes characterized by amino acid substitutions not altering molecular charge. Failure to detect more such thermostability variants is interpreted to mean that electrophoresis not only detects amino acid substitutions altering molecular charge but also a considerable proportion of those that do not alter charge.

Adenylate Kinase↗

Electrophoretic variants of blood proteins in Japanese. III. Triosephosphate isomerase.

A total of 15,387 individuals living in Hiroshima and Nagasaki, of whom 10,864 are unrelated, were examined for erythrocyte triosephosphate isomerase (TPI) by starch gel electrophoresis using TEMM buffer, pH 7.4. Four kinds of new variants, one having a cathodal migration and three having anodal migrations, were encountered in this population. These variants were further characterized by starch gel electrophoresis using tris-EDTA buffer, pH 9.3, and isoelectric focusing. An anodally migrating allozyme TPI 2HR1 exhibited markedly decreased enzyme activity, as evaluated by the staining intensity of the variant bands. The level of TPI activity in erythrocytes from this individual with the phenotype TPI 1-2HR1 was about 60% of the normal mean. Family studies confirmed the genetic nature of all the variants.

Carbohydrate Epimerases↗

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 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.

Enzymes↗

A phylogeny for the principal alleles of the human phosphoglucomutase-1 locus.

The results of phosphoglucomutase-1 (PGM1) typings by starch gel electrophoresis and subtypings by isoelectric focusing are presented for a sample of Japanese. A distinction made on the basis of isoelectric focusing (termed "+" and "-") is nonrandomly associated with each of the products of the four most common electrophoretic alleles (PGM1(1), PGM1(2), PGM1(3), and PGM1(7). The isoelectric trait cosegregates with the allele; the degree of nonrandomness of the association varies from allele to allele. Thus, the four alleles become eight. On the basis of these facts plus the additive nature of the pI differences between allele products and the geographical distribution of the alleles, an allele phylogeny can be constructed. This postulates that the eight alleles may be explained by three nucleotide substitutions involving the stem allele plus four intragenic recombinations between these substitutions. The potential of intragenic recombination as a cause of mutation has been insufficiently appreciated.

Alleles↗

Search for mutations affecting protein structure in children of atomic bomb survivors: preliminary report.

A total of 289,868 locus tests, based on 28 different protein phenotypes and using one-dimensional electrophoresis to detect variant proteins, has yielded one probable mutation in the offspring of "proximally exposed" parents, who received an estimated average gonadal exposure of 31 to 39 rem in the atomic bombings of Hiroshima and Nagasaki. There were no mutations in 208,196 locus tests involving children of "distally exposed" parents, who had essentially no radiation exposure.

Dose-Response Relationship, Radiation↗

Variants of red cell enzymes found in Japanese of Hiroshima and Nagasaki.

In the course of our search for possible genetic effects of radiation among the children of A-bomb survivors in Hiroshima and Nagasaki, we have obtained considerable electrophoretic data which clearly illustrate some of the genetic characteristics of the populations of both cities, which characteristics, however, have no relationship with radiation exposure of the parents. The frequencies of variants of phosphoglucomutase1 (PGM1) and glucose phosphate isomerase (GPI) were observed to be significantly higher in Nagasaki than in Hiroshima. As the difference in the frequencies of transferrin variants between two cities are also significant, it is apparent that the populations of the two cities are genetically different with respect to variation in certain protein systems.

Child↗

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

The thermostability of the five kinds of electrophoretically variant phenotypes of GPI which were found in Japanese in a previous study (Tanis et al. 1977) was examined. The most frequently found variant phenotype, termed GPI 1-4HIR1, observed in 20 individuals could be divided into three distinct classes on the basis of thermostability characteristics. These classes were termed 'stable', 'labile', and 'very labile'. 'Stable' lost approximately 20 and 60% of its original activity after heating 10 and 30 min at 52-5 degrees C, respectively, while normal GPI lost approximately 30 and 70% of its original activity. 'Labile' lost approximately 40 and 80%, and 'very labile' lost approximately 55 and 90% of its original activity under the same heating conditions. Electrophoresis showed that that thermostability was a characteristic of the variant protein molecule but not of the electrophoretically normal molecule. The order of the stability of these three kinds of variants against 5 M urea was the same as that of their thermostability. No difference against inhibition by 6-phosphogluconate was observed among the normal and the variant phosphoglucose isomerases. Family studies confirmed the genetic nature of the thermo- and urea stability differences among the affected individuals.

Electrophoresis, Starch Gel↗