Summary
The determination of phosphoglucomutase (PGM1) phenotypes was performed by isoelectric focusing on samples from 1678 unrelated individuals from Hessen, Germany. Ten common phenotypes are considered as gene products of four alleles at the PGM1 locus with the following frequencies: PGM a11 =0.6305, PGM a21 =0.1844, PGM a31 =0.1320, and PGM a41 =0.0530. Twenty-two different mating types were observed in 113 families with 202 children. The segregation of the phenotypes in the offspring supports the assumed way of autosomal codominant inheritance. The example of a silent allele (PGM 01 ) as well as a rare variant (PGM 71 ) is reported.
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Arnaud, P., Creyssel, R., Chapuis-Cellier, C.: The detection of α1antitrypsin variants (Pisystem) by analytical thin-layer electrofocusing in polyacrylamide gel. LKB Application note 185 (1975)
Bark, J. E., Harris, M. J., Firth, M.: Typing of the common phosphoglucomutase variants using isoelectric focusing—a new interpretation of the phosphoglucomutase system. J. Forensic Sci. Soc. 16, 115–120 (1976)
Beutler, E., Matsumoto, F.: Ethnic variation in red cell glutathione peroxidase activity. Blood 46, 103–110 (1975)
Brinkmann, B., Koops, E., Klopp, O., Heindl, K., Rüdiger, H. W.: Inherited partial deficiency of the PGM 11 gene: Biochemical and densitometric studies. Ann. Hum. Genet. 35, 363–366 (1972)
Fisher, R. A., Harris, H.: “Secondary” isozymes derived from the three PGM loci. Ann. Hum. Genet. 36, 69 (1972)
Greene, J. M., Dawson, D. M.: Altered electrophoretic mobility of oxidized phosphoglucomutase. Ann. Hum. Genet. 36, 355 (1973)
Harris, H., Hopkinson, D. A.: Handbook of enzyme electrophoresis in human genetics. Amsterdam: North-Holland 1976
Kühnl, P., Schmidtmann, U., Spielmann, W.: Hinweise für zwei weitere häufige Allele am PGM1-Locus. Ref. Symposium der Arbeitsgemeinschaft der Blutgruppensachverständigen. Timmendorfer-Strand 1976. Ärztl. Lab. 23, 229–232 (1977)
Kühnl, P., Schmidtmann, U., Spielmann, W.: Evidence for two additional common alleles at the PGM1 locus (Phosphoglucomutase—E.C.: 2.7.5.1). Hum. Genet. 35, 219–223 (1977a)
Kühnl, P., Schmidtmann, U., Spielmann, W.: Untersuchungen zum Polymorphismus der Phosphoglucomutase (PGM — E.C.: 2.7.5.1) mittels isoelektrischer Focussierung auf Polyacrylamidgel (PAGIF). Ref. Abstr. Seventh Int. Congress of the Society for Forensic Haematogenetics, Hamburg 1977b
Marti, H.: Normale und anomale menschliche Hämoglobine, p. 51. Berlin-Göttingen-Heidelberg: Springer 1963
Otto, F., Schmidt, D. O.: Lymphocytenisolierung aus dem Blut des Menschen und der Tiere. Blut 21, 118 (1970)
Race, R. R., Sanger, R.: Blood Groups in Man (sixth edition), p. 95, Oxford; Blackwell 1975
Righetti, P. G., Drysdale, J. W.: Isoelectric focusing. Amsterdam: North-Holland 1976
Schmidtmann, U.: Untersuchungen zum erweiterten Polymorphismus im System der Phosphoglucomutase (PGM1, E.C.:2.7.5.1). Thesis, University of Frankfurt/Main 1977
Sinha, K. P., Lewis, W. H. P., Corney, G., Harris, H.: Studies on the quantitative variation of human red cell peptidase A activity. Ann. Hum. Genet. 34, 153 (1970)
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, 65–70 (1978)
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Kühnl, P., Spielmann, W. Investigations on the PGM a1 polymorphism (phosphoglucomutase-EC 2.7.5.1) by isoelectric focusing. Hum Genet 43, 57–67 (1978). https://doi.org/10.1007/BF00396479
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DOI: https://doi.org/10.1007/BF00396479