Isoelectric focusing of red cell phosphoglucomutase (E.C.: 2.7.5.1) at the PGM1 locus in a French-Canadian population.

Phosphoglucomutase1 (PGM1) polymorphism was studied in a French-Canadian population of Québec city, Canada by means of a low voltage (max 500 V) isoelectric focusing (IEF) procedure on vertical polyacrylamide gel slabs. Frequencies of the four common PGM1 genes estimated from the phenotype distribution in 308 unrelated individuals were PGM1(1+), 0.61 (+/- 0.02); PGM1(1-), 0.13 (+/- 0.01); PGM1(2+), 0.18 (+/- 0.02); and PGM1(2-), 0.08 (+/- 0.01). The segregation patterns observed in 154 families, which included 31 different mating types and 353 children, confirmed a Mendelian inheritance of four autosomal genes. The distribution of the PGM1 phenotypes observed or expected in a Hardy-Weinberg equilibrium was compared with that of other populations. A significant (P < 0.001) difference was found between the Québec population and a Black population from Keneba, Gambia, West-Africa.