A third phosphoǵlucomutase locus in man

Abstract

SUMMARY 1. Investigation of human tissue extracts by starch gel electrophoresis has vevealed three groups of isozymes with PGM activity. 2. Previous studies on red cell lysates have established that two of these groups of isozymes, PGM 1 and PGM 2 are determined by two separate autosomal loci, PGM 1 and PGM 2 respectively. 3. The new series of isozymes, designated PGM 3 , are electrophoretically faster than the other PGM components, constitute only a small fraction of the total PGM activity, and exhibit person‐to‐person differences in electrophoretic patten which are independent of te PGM 1 and PGM 2 variants. Three commonly occuring phenotypes have been recognized : PGM 3 1, PGM 3 2‐1 and PGM 3 2. 4. The genetics of this polymorphism have been studied using plancentae derived from pairs of non‐identical twins. The reult suggest the occurence of two common alleles PGM 1/3 and PGM 2/3 at an atosomal locus, with frequencies of 0.74 and 0.26 respectively in the English population and 0.34 and 0.66 respectively in the Nigerian population. 5. Tests for linkage using the twin data indicate that the PGM 1 and PGM 3 loci are not closely linked. 6. The possibility of structural homologies between the various PGM isozymes is noted.

Keywords

Affiliated Institutions

• Medical Research Council GB

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