New Genetic Variant of 6-Phosphogluconate Dehydrogenase in Australian Aborigines

Abstract

SINCE the original discovery of genetic variation in human 6-phosphogluconate dehydrogenase (E.C.1.1.1.44) by Fildes and Parr in 1963¹, several new variants showing either electrophoretic differences in starch gel or quantitative variation have been demonstrated². The variants segregate in families in accordance with expectations based on control by autosomal codominant alleles, but with the exception of the “common” variant their frequency is very low. The “common” variant of 6-phosphogluconate dehydrogenase (6-PGD) represents the heterozygous genotype PGD^A/PGD^C and the frequency of the PGD^C allele is significantly different in populations in various parts of the world³, ranging from zero in one small group of Central American Indians to 0.152 for Bantu in South Africa. Surveys of Caucasians in Europe, North America and South Africa give values of the PGD^C allele ranging from 0.021 to 0.039.