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 PGDA/PGDC and the frequency of the PGDC 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 PGDC allele ranging from 0.021 to 0.039.