Skip to main content
Log in

Evidence for two additional common alleles at the PGM1 locus (Phosphoglucomutase-E.C.:2.7.5.1)

A comparison by three different techniques

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Lysates of erythrocytes, leukocytes, lymphocytes, and extracts of sperms were investigated for the PGM1 isozymes by three techniques: starch gel electrophoresis, high voltage thin-layer agarose gel electrophoresis, and thinlayer isoelectric focusing on polyacrylamide gel. On starch, only the well known common phenotypes 1, 2-1, and 2 were demonstrable. On agarose, different distances of the two main cathodal bands (a, b) among the phenotypes 2-1 were noted. Furthermore, on agarose, some types considered as homozygous on starch gel had a single, sharp banded pattern, while others were broad and blurred. Optimal separation was achieved by isoelectric focusing on polyacrylamide gel. In 291 leukolysates, 10 different phenotypes were identified. These are considered as gene products of 4 different common alleles at the PGM1 locus as suggested by preliminary family investigations. In a random population from Hessen these four alleles, had the following frequencies: PGM a11 0.6186, PGM a21 0.1718, PGM a31 0.1426, and PGM a41 0.067. The preliminary designation a1, a2, a3 and a4 was chosen as the assumed polymorphism was demonstrated on acrylamide and agarose. The sum of the frequencies PGM a11 and PGM a31 (the gene products of which have apparently the same electrophoretic mobility on starch) is similar to the frequency of the old PGM 11 allele (0.757) in Caucasoids, PGM a21 and PGM a41 have a frequency of 0.2388 corresponding with the frequency of the old allele PGM 21 .

This is a preview of subscription content, log in via an institution to check access.

Access this article

Subscribe and save

Springer+ Basic
$34.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Bissbort, S., Kömpf, J., Bethge, R., Gussmann, S.: Population genetics of human red cell phosphoglucomutase isozyme PGM3 (E.C.: 2.7.5.1). Humangenetik 27, 57–58 (1975)

    Google Scholar 

  • Douglas, G. R., McAlpine, P. J., Hamerton, J. L.: Regional localisation of loci for human PGM1 and 6PGD on human chromosome one by use of hybrids of chinese hamster-human somatic cells. Proc. Natl. Acad. Sci. USA 70, 2737 (1973)

    Google Scholar 

  • Fiedler, H., Pettenkofer, H.: Ein ‘neuer’ Phänotyp im Isoenzymsystem der Phosphoglucomutasen des Menschen (PGM1O). 2. Mitteilung. Blut 18, 358 (1969)

    Google Scholar 

  • Fisher, R. A., Harris, H.: “Secondary” isozymes derived from the three PGM loci. Ann. Hum. Genet. 36, 69 (1972)

    Google Scholar 

  • Greene, J. M., Dawson, D. M.: Altered electrophoretic mobility of oxidized phosphoglucomutase. Ann. Hum. Genet. 36, 355 (1973)

    Google Scholar 

  • 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 (1973)

    Google Scholar 

  • Harris, H., Hopkinson, D. A.: Handbook of enzyme electrophoresis in human genetics. Amsterdam: North-Holland 1976

    Google Scholar 

  • Jongsma, A., VanSomeren, H., Westerfeld, A., Hagemeijer, A., Pearson, P.: Localisation of genes on human chromosomes by studies of huma-chinese hamster somatic cell hybrids. Assignment of PGM3 to chromosomes C6 and regional mapping of the PGD, PGM1 and Pep-C genes on chromosome A1. Humangenetik 20, 195 (1973)

    Google Scholar 

  • Kühnl, P., Nowicki, L., Spielmann, W.: Untersuchungen zum Polymorphismus der intraerythrocytären Esterase D (Es D) mittels Hochspannungselektrophorese auf Agarosegel. Z. Rechtsmedizin 75, 179–182 (1974)

    Google Scholar 

  • McAlpine, P. J., Hopkinson, D. A., Harris, H.: The relative activities attributalble to the three phosphoglucomutase loci (PGM1, PGM2 and PGM3) in human tissues. Ann. Hum. Genet. 34, 169 (1970)

    Google Scholar 

  • McAlpine, P. J., Mohandas, T., Hamerton, J. L.: Isozyme analysis of somatic cell hybrids: Assignment of the phosphoglucomutase2 (PGM2) gene locus to chromosome 4 in man with data on the molecular structure and human chromosome assignments of six additional markers. In: Isozymes, IV, p. 149, Genetics and evolution, New York: Academic Press 1975

    Google Scholar 

  • Marti, H.: Normale und anomale menschliche Hämoglobine, p. 51. Berlin-Göttingen-Heidelberg: Springer 1963

    Google Scholar 

  • Nguyen, V. C., Billardon, C., Picard, J. Y., Feingold, J., Frézal, J.: Liaison probable (linkage) entre les locus PGM1 et peptidase C chez l'homme. C.R. Acad. Sci. (D) Paris 272, 485 (1971)

    Google Scholar 

  • Otto, F., Schmid, D. O.: Lymphocytenisolierung aus dem Blut des Menschen und der Tiere. Blut 21, 118 (1970)

    Google Scholar 

  • Quick, C. B., Fisher, R. A., Harris, H.: A kinetic study of the isozymes determined by the three phosphoglucomutase loci PGM1, PGM2 and PGM3. Europ. J. Biochem. 42, 511 (1974)

    Google Scholar 

  • Renninger W.: Isozymmuster der Phosphoglucomutase der menschlichen Thrombocyten (Thr.-PGM1). Humangenetik 8, 255–257 (1969)

    Google Scholar 

  • Renninger, W., Sina, D.: Isoenzymmuster der Phosphoglucomutase der menschlichen Spermien (Sp.-PGM1). Humangenetik 10, 85–87 (1970)

    Google Scholar 

  • Schmidtmann, U., Kühnl, P., Spielmann, W.: Untersuchungen zum Polymorphismus der Phosphoglucomutase — Isoenzyme des Menschen mittels isoelektrischer Focussierung (1977, unpublished data)

  • 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)

    Google Scholar 

  • Spencer, N., Hopkinson, D. A., Harris, H.: Phosphoglucomutase polymorphism in man. Nature (Lond.) 204, 742–745 (1964)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

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 (1977). https://doi.org/10.1007/BF00393973

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00393973

Keywords