Summary
A total of 637 individuals from the rural village of Keneba in The Gambia, West Africa, have been typed for red cell PGM using isoelectric focusing (pH 5–7) in polyacrylamide gels. Eight different phenotypes have been detected. The frequency of the four alleles at the PGM1 locus was found to be PGM 1+1 0.795, PGM 1-1 0.053, PGM 2+1 0.133, and PGM 2-1 0.019. A study of the PGM phenotypes in 89 families confirmed the simple Mendelian codominant inheritance of the four alleles. Comparative population data suggest that red cell PGM typing by isoelectric focusing might prove to be a useful genetic marker in anthropological studies.
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Bark, J. E., Harris, M. J., Firth, M.: Typing of the common PGM variants using isoelectric focusing—a new interpretation of the PGM system. J. Forensic Sci. Soc. 16, 115–120 (1976)
Burdett, P. E., Whitehead, P. H.: The separation of the phenotypes of phosphoglucomutase, erythrocyte acid phosphatase, and some haemoglobin variants using isoelectric focusing. Anal. Biochem. 77, 419–428 (1977)
Harris, H., Hopkinson, D. A., Robson, E. B.: The incidence of rare alleles determining electrophoretic variants: Data on 43 enzyme loci in man. Ann. Hum. Genet. 37, 237–253 (1973)
Ishimoto, G., Kawata, M.: The typing of red cell enzymes by isoelectric focusing in gels. Rep. Natl. Res. Inst. Police Sci. Jpn. 25, 13–16 (1972)
Kuhnl, P., Schmidtmann, U., Spielmann, W.: Evidence for two additional common alleles at the PGM1 locus. Hum. Genet. 35, 219–223 (1977)
Mourant, A. E., Kopec, A. C., Domaniewska-Sobczak, K.: The distribution of the human blood groups and other polymorphisms, 2nd ed. Oxford: Oxford University Press 1976
Spencer, N., Hopkinson, D. A., Harris, H.: Phosphoglucomutase polymorphism in man. Nature 204, 742–745 (1964)
Sutton, J. G., Burgess, R.: Genetic evidence for four common alleles at the phosphoglucomutase-1 locus (PGM1) detectable by isoelectric focusing. Vox. Sang. 34, 97–103 (1977)
Welch, S. G.: Red cell esterase D polymorphism in Gambia. Humangenetik 21, 365–367 (1974)
Welch, S. G.: Population and family studies on carbonic anhydrase II polymorphism in Gambia, West Africa. Humangenetik 27, 163–166 (1975)
Welch, S. G., Lee, J., McGregor, I. A., Williams, K.: Red cell glutamate-pyruvate transaminase gene frequencies in Gambia, West Africa. Hum. Hered. 25, 414–417 (1975)
Welch, S. G., McGregor, I. A., Williams, K.: The Duffy blood group and malaria prevalence in Gambian West Africans. Trans. R. Soc. Trop. Med. Hyg. 71, 295–296 (1977)
Welch, S. G., McGregor, I. A., Williams, K.: A new variant of human erythrocyte G6PD occurring at a high frequency amongst the population of two villages in The Gambia, West Africa. Hum. Genet. 40, 305–309 (1978)
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Welch, S.G., Swindlehurst, C.A., McGregor, I.A. et al. Isoelectric focusing of human red cell phosphoglucomutase. Hum Genet 43, 307–313 (1978). https://doi.org/10.1007/BF00278838
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DOI: https://doi.org/10.1007/BF00278838