Summary
In screening of the PGM system by isoelectric focusing a heterozygote with a rare allele of PGM 2was detected. Family studies and family register checkings for the propositus showed evidence of hereditary occurrence of this allele, and all the ancestors of the propositus were Japanese. Although there have been no reports among Mongoloids, the variant found in the present study is likely to be the first case of a rare phenotype of PGM 2among such populations. In addition, isoelectric focusing data on 411 Japanese samples are given.
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Beutler E (1975) Red cell metabolism: a manual of biochemical methods. 2nd Ed. Grune & Stratton, New York San Francisco London, pp 79–81
Bhasin MK, Fuhrmann W (1972) Geographic and ethnic distribution of some red cell enzymes. Humangenetik 14:204–223
Blake NM, Omoto K (1975) Phosphoglucomutase types in the Asian-Pacific area: a critical review including new phenotypes. Ann Hum Genet 38:251–273
Geerdink RA, Bartstra HA, Hopkinson DA (1974) Phosphoglucomutase (PGM2) variants in Trio Indians from Surinam. Hum Hered 24:40–44
Harris H, Hopkinson DA, Robson EB (1974) The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man. Ann Hum Genet 37:237–253
Hopkinson DA, Harris H (1966) Rare phosphoglucomutase phenotypes. Ann Hum Genet 30:167–181
Ishimoto G (1975) Red cell enzymes. In: Watanabe S, Kondo S, Matsunaga E (eds) Anthropological and genetic studies on the Japanese. Tokyo University Press, Tokyo, pp 109–139
Monn E, Gjønnaess H (1971) Placenta phosphoglucomutase typesin Norway. Hum Hered 21:254–262
Mourant AE, Kopec AC, Domaniewska-Sobczak K (1976) The distribution of human blood groups and other polymorphisms. 2nd Ed. Oxford University Press, London New York Toronto, pp 758–767
Neel JV, Ueda N, Satoh C, Ferrell RE, Tanis RJ, Hamilton HB (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
Nishigaki I, Itoh T, Fujiki N, Kondo M (1978) Phosphoglucomutase polymorphism in an isolated community in Japan. Jpn J Hum Genet 23:377–382
Nishigaki I (1978) Studies on population genetics in isolates. (VIII) Tomiyama. Jpn J Constitutional Med 42:53–89
Nishigaki I, Benkmann HG, Goedde HW (1982) Isoelectric focusing studies of human red cell PGM1 in Japanese, with special reference to the characterization of PGM 71 . Hum Hered 32:301–307
Parrington JM, Cruickshank G, Hopkinson DA, Robson EB, Harris H (1968) Linkage relationships between the three phosphoglucomutase loci PGM1, PGM2 and PGM3. Ann Hum Genet 32:27–34
Roberts DF, Papiha SS, Creen CK, Chahaparwal BC, Mehta S (1974) Red cell enzyme and other polymorphic systems in Madhya Pradesh, Central India. Ann Hum Biol 1:159–163
Stantachiara-Benerecetti SA, Modiano G (1969) Studies on African Pygmies. II. Red cell phosphoglucomutase studies in Babinga Pygmies: a common PGM2 variant allele. Am J Hum Genet 21:315–321
Santachiara-Benerecetti SA, Cattaneo A, Meera Khan P (1972) Rare phenotypes of the PGM1 and PGM2 loci and a new PGM2 variant allele in the Indians. Am J Hum Genet 24:680–685
Satoh C, Ferrell RE, Tanis RJ, Ueda N, Kishimoto S, Neel JV, Hamilton HB, Baba K (1977) The frequency in Japanese of genetic variants of 22 proteins. III. Phosphoglucomutase-1, phosphoglucomutase-2, 6-phosphogluconate dehydrogenase, adenylate kinase, adenosine deaminase. Ann Hum Genet 41:169–183
Spencer N, Hopkinson DA, Harris H (1964) Phosphoglucomutase polymorphism in man. Nature 204:742–745
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Nishigaki, I., Itoh, T. & Hasegawa, I. A rare phenotype of phosphoglucomutase-2 first detected in Mongoloids. Hum Genet 62, 246–249 (1982). https://doi.org/10.1007/BF00333529
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DOI: https://doi.org/10.1007/BF00333529