Abstract
The distribution of phosphoglucomutase (PGM1) subtypes in human red cells from 320 Chinese was determined by isoelectric focusing. Ten common phenotypes were observed corresponding to the following frequencies of the four alleles at the PGM1 locus: PGM1+ 1 0·6420, PGM1− 1 0·1240, PGM2+ 1 0·1755 and PGM2− 1 0·0765. In addition, two variants were detected, one of them was PGM8. 1; the other a new variant (PGM1 China). The pedigree of the propositus of the new variant shows that it occurs in combination with the common alleles PGM1+ 1 and PGM1− 1 and that it has an autosomal dominant inheritance.
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