Phenotyping of Phosphoglucomutase (PGM 1 ) Subtypes in Chinese,with Special Reference to New Variant (PGM 1,China)

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 PGM^8. 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.