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. 1982 Mar;34(2):337–348.

Subtyping of phosphoglucomutase locus 1 (PGM1) polymorphism in some populations of Rwanda: description of variant phenotypes, "haplotype" frequencies, and linkage disequilibrium data.

A S Santachiara-Benerecetti, G N Ranzani, G Antonini, M Beretta
PMCID: PMC1685289  PMID: 6462057

Abstract

Some populations of Rwanda (South Twa Pygmies, Hutu, and Tutsi) have been analyzed by acid starch gel electrophoresis for the subtyping of PGM1 polymorphism. The new polymorphic third PGM11 allele, the PGM1(1Twa), which we recently detected in Twa Pygmies from North Rwanda, has not been found in this survey, whereas the rare PGM1(6) allele attains subpolymorphic frequencies in all groups. Comparison between the various populations of Rwanda shows that they differ significantly from each other with the exception of South Twa Pygmies and Tutsi. A relatively low frequency (9.6%) of the PGM1(2S) allele appears to be typical of North Twa Pygmies; a low frequency of PGM1(2F) (1.2%-3.6%) has been found in all these groups but not in the Hutu (6.4%); and a particularly high incidence of the PGM1(1F) allele (the highest so far reported) has been observed in the South Twa Pygmies (20%) and in the Tutsi (18%). The PGM1(1Twa) and PGM1(6) enzymes, which in acid starch gel are not distinguishable, can be clearly differentiated by isoelectric focusing. In addition, the same technique has shown that the rare PGM1(7) allele observed in one Hutu is different from that found at polymorphic frequency in the Japanese and from a rare PGM1(7) allele found in Germany. On the very likely hypothesis that the PGM1(1S), PGM1(1F), PGM1(2S), and PGM1(2F) result from variations at two different polymorphic sites, 1/2 and F/S, within the PGM1 structural gene, all the available population data have been analyzed to investigate whether preferential combinations (haplotypes) were identifiable. Whereas Caucasians show a prevalence of 2F and 1S combination with an 8.02% mean value of linkage disequilibrium expressed as % Dmax, from the very few and scattered African data, it is impossible to draw any inference at present.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. 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. 1976 Apr;16(2):115–120. doi: 10.1016/s0015-7368(76)71042-9. [DOI] [PubMed] [Google Scholar]
  2. Bissbort S., Ritter H., Kömpf J. PGM1 subtyping by means of acid starch gel electrophoresis. Hum Genet. 1978 Dec 18;45(2):175–177. doi: 10.1007/BF00286959. [DOI] [PubMed] [Google Scholar]
  3. Blake N. M., Omoto K. Phosphoglucomutase types in the Asian-Pacific area: a critical reveiw including new phenotypes. Ann Hum Genet. 1975 Jan;38(3):251–273. doi: 10.1111/j.1469-1809.1975.tb00610.x. [DOI] [PubMed] [Google Scholar]
  4. Burdett P. E., Whitehead P. H. The separation of the phenotypes of phosphoglucomutase, erythrocyte acid phosphatase, and some haemoglobin variants by isoelectric focusing. Anal Biochem. 1977 Feb;77(2):419–428. doi: 10.1016/0003-2697(77)90255-x. [DOI] [PubMed] [Google Scholar]
  5. Dobosz T., Kozioł P. Subtypes of the phosphoglucomutase-1 (PGM1) locus detectable in Polish populations by isoelectric focusing on cellogel. Hum Genet. 1980;56(1):119–121. doi: 10.1007/BF00281581. [DOI] [PubMed] [Google Scholar]
  6. Kühnl P., Schmidtmann U., Spielmann W. Evidence for two additional common alleles at the PGM1 locus (phosphoglucomutase--E.C.: 2.7.5.1). A comparison by three different techniques. Hum Genet. 1977 Feb 11;35(2):219–223. doi: 10.1007/BF00393973. [DOI] [PubMed] [Google Scholar]
  7. Kühnl P., Spielmann W. Investigations on the PGMa1 polymorphism (phosphoglucomutase--EC 2.7.5.1) by isoelectric focusing. Hum Genet. 1978 Jul 12;43(1):57–67. doi: 10.1007/BF00396479. [DOI] [PubMed] [Google Scholar]
  8. Maneyama Y., Horai S., Omoto K. The distribution of the phosphoglucomutase-I (PGM1) subtypes in Japanese. Jinrui Idengaku Zasshi. 1978 Dec;23(4):383–387. doi: 10.1007/BF01908193. [DOI] [PubMed] [Google Scholar]
  9. SPENCER N., HOPKINSON D. A., HARRIS H. PHOSPHOGLUCOMUTASE POLYMORPHISM IN MAN. Nature. 1964 Nov 21;204:742–745. doi: 10.1038/204742a0. [DOI] [PubMed] [Google Scholar]
  10. Santachiara-Benerecetti A. S., Ranzani G. N., Antonini G. Subtyping of human red cell phosphoglucomutase locus 1 (PGM1) polymorphism: a third PGM1(1) allele common among Twa Pygmies from North Rwanda. Am J Hum Genet. 1981 Sep;33(5):817–822. [PMC free article] [PubMed] [Google Scholar]
  11. Scherz R., Pflugshaupt R., Bütler R. Isoelectric focusing of human red cell phosphoglucomutase (PGM1): phenotype distribution in the Swiss population - rare phenotypes. Hum Hered. 1981;31(3):187–190. doi: 10.1159/000153204. [DOI] [PubMed] [Google Scholar]
  12. Sutton J. G., Burgess R. Genetic evidence for four common alleles at the phosphoglucomutase-1 locus (PGM1) detectable by isoelectric focusing. Vox Sang. 1978;34(2):97–103. doi: 10.1111/j.1423-0410.1978.tb03730.x. [DOI] [PubMed] [Google Scholar]
  13. Vergnes H., Sevin J. Isoelectric focusing of human phosphoglucomutase: data on the distribution of variant phenotypes in three population sample from South West France. Hum Hered. 1981;31(3):156–160. doi: 10.1159/000153198. [DOI] [PubMed] [Google Scholar]
  14. Welch S. G., Swindlehurst C. A., McGregor I. A., Williams K. Isoelectric focusing of human red cell phosphoglucomutase: the distribution of variant phenotypes in a village population from the Gambia, West Africa. Hum Genet. 1978 Sep 19;43(3):307–313. doi: 10.1007/BF00278838. [DOI] [PubMed] [Google Scholar]

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