Summary
A total of 17,126 individuals, of whom 11,833 are unrelated, living in Hiroshima and Nagasaki were examined for erythrocyte phosphoglucomutase-2 (PGM2) by starch gel electrophoresis using TEMM buffer, pH 7.4. Four kinds of hereditary rare variants were encountered, three detected in single families and the one remaining in 9 unrelated families. In addition, a fresh mutant whose main band migrated slightly cathodal to thed-band was detected in a male child in Nagasaki, whose parents were proximally exposed to the atomic bomb in that city. The results described here confirm our previous data that PGM2 variation is quite low among the Japanese.
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Asakawa, J., Fujita, M., Goriki, K., Kageoka, T., Neriishi, S., Kawamoto, S., Hamilton, H.B., Satoh, C., and Ueda, N. 1978. Rare electrophoretic variants found in Hiroshima and Nagasaki residents. Proc. 23rd Annual Meeting of Jpn. Soc. Human Genet., 1978.Jpn. J. Human Genet. 24:215–216.
Bark, J.E., Harris, M.J., and Firth, M. 1976. Typing of the common phosphoglucomutase variants using isoelectric focusing—A new interpretation of the phosphoglucomutase system.J. Forens. Sci. Soc. 16:115–120.
Beutler, E. 1975.Red Cell Metabolism, A Manual of Biochemical Methods., 2nd ed., Grune & Stratton, New York, San Francisco, and London.
Beutler, E., Blume, K.G., Kaplan, J.C., Löhr, G.W., Ramot, B., and Valentine, W.N. 1977. International committee for standardization in hematology: recommended methods for red-cell enzyme analysis.Br. J. Haematol. 35:331–340.
Bissbort, S., Ritter, H., and Kömpf, J. 1978. PGM1 subtyping by means of acid starch gel electrophoresis.Hum. Genet. 45:175–177.
Blake, N.M. and Omoto, K. 1975. Phosphoglucomutase types in the Asian-Pacific area: a critical review including new phenotypes.Ann. Hum. Genet. 38:251–273.
Carter, N.D., West, C.M., Emes, E., Parkin, B., and Marshall, W.H. 1979. Phosphoglucomutase polymorphism detected by isoelectric focusing: gene frequencies, evolution and linkage.Ann. Hum. Biol. 6:221–230.
Ferrell, R.E., Ueda, N., Satoh, C., Tanis, R.J., Neel, J.V., Hamilton, H.B., Inamizu, T., and Baba, K. 1977. The frequency in Japanese of genetic variants of 22 proteins. I. Albumin, ceruloplasmin, haptoglobin, and transferrin.Ann. Hum. Genet. 40:407–418.
Fildes, R.A. and Harris, H. 1966. Genetically determined variation of adenylate kinase in man.Nature, Lond. 209:261–263.
Geerdink, R.A., Bartstra, H.A., and Hopkinson, D.A. 1974. Phosphoglucomutase (PGM2) variants in Trio Indians from Surinam.Hum. Hered. 24:40–44.
Harris, H., Hopkinson, D.A., and Robson, E.B. 1974. The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man.Ann. Hum. Genet. 37:237–253.
Hopkinson, D.A. and Harris, H. 1966. Rare phosphoglucomutase phenotypes.Ann. Hum. Genet. 30:167–181.
Hopkinson, D.A. and Harris, H. 1969. Red cell acid phosphatase, phosphoglucomutase and adenylate kinase. InBiochemical Methods in Red Cell Genetics, J.J. Unis, ed., Academic Press, New York, London, pp. 368.
Ishmioto, G. 1975. Red cell enzymes. InHuman Adaptability: Anthropological and Genetic Studies on the Japanese, Vol. 2, S. Watanabe, S. Kondo, and E. Matsunaga, eds., Univ. of Tokyo Press, Tokyo, pp. 109–139.
Kerr, G.D. 1979. Organ dose estimates for the Japanese atomic bomb survivors.Health Phys. 37:487–508.
Kirk, R.L., Blake, N.M., Moodie, P.M., and Tibbs, J. 1971. The distribution of some serum protein and enzyme groups among populations at various localities in the Nothern Territory of Australia.Hum. Biol. Oceania 1:54–76.
Kühnl, P., Schmidtmann, U., and Spielmann, W. 1977. Evidence for two additional common alleles at the PGM1 locus. A comparison by three different techniques.Hum. Genet. 35: 219–223.
Milton, R.C. and Shohoji, T. 1968. Tentative 1965 radiation dose estimation for atomic bomb survivors, Hiroshima-Nagasaki,ABCC Technical Report 1-68, Radiation Effects Research Foundation, Hiroshima, pp. 1–43.
Neel, J.V. and Schull, W.J. 1956.The Effect of Exposure to the Atomic Bombs on Pregnancy Termination in Hiroshima and Nagasaki. NAS-NRC Publ. No. 461, Washington, D.C.
Neel, J.V., Kato, H., and Schull, W.J. 1974. Mortality in children of atomic bomb survivors and controls.Genetics 76:311–326.
Neel, J.V., Ueda, N., Satoh, C., Ferrell, R.E., Tanis, R.J., and Hamilton, H.B. 1978. The frequency in Japanese of genetic variants of 22 proteins. V. Summary and comparison with data on Caucasians from the British Isles.Ann. Hum. Genet. 41:429–441.
Neel, J.V., Satoh, C., Hamilton, H.B., Otake, M., Goriki, K., Kageoka, T., Fujita, M., Neriishi, S., and Asakawa, J. 1980. Search for mutations affecting protein structure in children of atomic bomb survivors: Preliminary report.Proc. Natl. Acad. Sci. USA 77:4221–4225.
Nishigaki, I., Itoh, T., and Hasegawa, I. 1982. A rare phenotype of phosphoglucomutase-2 first detected in Mongoloids.Hum. Genet. 62:246–249.
Parrington, J.M., Cruickshank, G., Hopkinson, D.A., Robson, E.B., and Harris, H. 1968. Linkage relationships between the three phosphoglucomutase lociPGM 1,PGM 2, andPGM 3.Ann. Hum. Genet. 32:27–34.
Quick, C.B., Fisher, R.A., and Harris, H. 1972. Differentiation of thePGM 2 locus isozymes from those ofPGM 1 andPGM 2 in terms of phosphopentomutase activity.Ann. Hum. Genet. 35: 445–454.
Satoh, C., Ferrell, R.E., Tanis, R.J., Ueda, N., Kishimoto, S., Neel, J.V., Hamilton, H.B., and Baba, K. 1977. The frequency in Japanese of genetic variants of 22 proteins. III. Phosphoglucomutase-1, phosphoglucomutase-2, 6-phosphogluconate dehydrogenase, adenylate kinase, and adenosine deaminase.Ann. Hum. Genet. 41:169–183.
Satoh, C., Awa, A.A., Neel, J.V., Schull, W.J., Kato, H., Hamilton, H.B., Otake M., and Goriki, K. 1982a. Genetic effects of atomic bombs. InHuman Genetics, Part A, The Unfolding Genome (Proc. 6th Intl. Congr. of Hum. Genet., 1981, Jerusalem, B. Bonné-Tamir ed.), Alan R. Liss. Inc., New York, pp. 267–276.
Satoh, C., Goriki, K., Hamilton, H.B., and Neel, J.V. 1982b. Search for mutations affecting protein structure in children of atomic bomb survivors.Jpn. J. Genet. 57:702.
Satoh, C., Neel, J.V., Yamashita, A., Goriki, K., Fujita, M., and Hamilton, H.B. 1983. The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes.Am. J. Hum. Genet. 35:656–674.
Satoh, C., Takahashi, N., Kaneko, J., Kimura, Y., Fujita, M., Asakawa, J., Kageoka, T., Goriki, K., and Hazama, R. 1984. Electrophoretic variants of blood proteins in Japanese. II. Phosphoglucomutase-1 (PGM1).Jpn. J. Human Genet. 29: in press.
Scozzari, R., Trippa, G., Santachiara-Benerecetti, A.S., Terrenato, L., Iodice, C., and Benincasa, A. 1981. Further genetic heterogeneity of human red cell phosphoglucomutase-1: a non-electrophoretic polymorphims.Ann. Hum. Genet. 45:313–322.
Spencer, N., Hopkinson, D.A., and Harris, H. 1964. Phosphoglucomutase polymorphism in man.Nature, Lond. 204:742–745.
Sutton, J.G. 1979. Characterisation of the isozymes of phosphoglucomutase (PGM) determined by the first (PGM1) and second (PGM2) locus observed by isoelectric focusing.Hum. Genet. 47:279–290.
Takahashi, N., Nishizaki, J., and Satoh, C. 1980. Study ofPGM 1 7 by isoelectric focusing. Proc. 25th Annual Meeting of Jpn. Soc. Human Genet., 1980.Jpn. J. Human Genet. 26:155–156.
Takahashi, N., Neel, J.V., Satoh, C., Nishizaki, J., and Masunari, N. 1982. A phylogeny for the principal alleles of the human phosphoglucomutase-1 locus.Proc. Natl. Acad. Sci. USA 79: 6636–6640.
Takahashi, N. and Satoh, C. 1982. Isoelectric focusing of rare variants of human phosphoglucomutase-1 (PGM1) and phosphoglucomutase-2 (PGM2). Proc. 27th Annual Meeting of Jpn. Soc. Human Genet., 1982.Jpn. J. Human Genet. 28:187.
Tanis, R.J., Ueda, N., Satoh, C., Ferrell, R.E., Kishimoto, S., Neel, J.V., Hamilton, H.B., and Ohno, N. 1978. The frequency in Japanese of genetic variants of 22 proteins. IV. Acid phosphatase, NADP-isocitrate dehydrogenase, peptidase A, peptidase B and phosphohexose isomerase.Ann. Hum. Genet. 41:419–428.
Tipler, T.D., Dunn, D.S., and Jenkins, T. 1982. Phosphoglucomutase first locus polymorphism as revealed by isoelectric focusing in southern Africa.Hum. Hered. 32:80–93.
Ueda, N., Satoh, C., Tanis, R.J., Ferrell, R.E., Kishimoto, S., Neel, J.V., Hamilton, H.B., and Baba, K. 1977. The frequency in Japanese of genetic variants of 22 proteins. II. Carbonic anhydrase I and II, lactate dehydrogenase, malate dehydrogenase, nucleoside phosphorylase, triose phosphate isomerase, haemoglobin A and haemoglobin A2.Ann. Hum. Genet. 41:43–52.
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The Radiation Effects Research Foundation (formerly ABCC), was established in April 1975 as a private nonprofit Japanese Foundation, supported equally by the Government of Japan through the Ministry of Health and Welfare, and the Government of the United States through the National Academy of Sciences under contract with the Energy Research and Development Administration.
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Satoh, C., Takahashi, N., Asakawa, Ji. et al. Electrophoretic variants of blood proteins in Japanese I. Phosphoglucomutase-2 (PGM2). Jap J Human Genet 29, 89–104 (1984). https://doi.org/10.1007/BF01873529
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DOI: https://doi.org/10.1007/BF01873529
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