Population studies on human phosphoglucomutase-1 thermostability polymorphism

The electrophoretic and thermostability polymorphisms of the PGM1 locus were examined in about 700 Czechoslovakians (Prague) and 3000 Italians. The Italian sample consisted of individuals from Pavia (Northern Italy), Viareggio and Rome (Central Italy) and Naples (Southern Italy). The eight PGM1 alleles, PGM 1 1Str , PGM 1 1Sts , PGM 1 1Ftr , PGM 1 1Fts , PGM 1 2Str , PGM 1 2Sts , PGM 1 2Ftr , PGM 1 2Fts , have been considered as combinations of mutations at three different sites, 1/2 S/F and tr/ts, within the PGM1 gene and their frequencies discussed in terms of linkage disequilibrium between these sites. All pairwise differences between the samples were significant except for Pavia-Viareggio and Viareggio-Rome. The frequencies of the PGM 1 ts alleles have been found to range from 0.0981 (Prague) to 0.0546 (Naples) and can be ordered according to a North-South cline.