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PubMed1982

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

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.

Alleles↗
PubMed1994

Linkage disequilibrium at the human phosphoglucomutase 1 locus.

By considering the four common PGM1 alleles as haplotypes, that is, combinations of mutations at two polymorphic intragenic sites (1/2 and A/B), we investigated the levels of linkage disequilibrium in 142 human population samples. These groups showed considerable diversity in their disequilibrium (Drel) and heterogeneity. In all the populations the disequilibrium was found to be due to an excess of 1A and 2B haplotypes, although this direction is the opposite of that expected according to the proposed phylogeny of the system. Natural selection could be one of the major causes for such a disequilibrium direction.

Alleles↗
PubMed1995

Polymorphism of phosphoglucomutase 1 (PGM1) in five Han subpopulations in China.

PGM1 polymorphism in five Han subpopulations in China was investigated by polyacrylamide gel isoelectric focusing. The frequency of PGM1*1A was 0.6256 for Xi'an Han, 0.5982 for Zhengzhou Han, 0.6429 for Huhhot Han, 0.6232 for Lanzhou Han, and 0.6000 for Hakka in Guangdong Province. There was a north to south cline of PGM1*1A frequency.

Alleles↗