title: Genetic variants of human glucose-6-phosphate dehydrogenase in a Saharian and Pygmy family.
abstract: In two African communities, inhabitants of a Western Sahara oasis and Bi-Aka Pygmies (Central Africa), a genetic study of the distribution of G6PD phenotypes has been undertaken. Obtained data show the existence in both groups of slow electrophoretic variants with no enzyme deficiency or moderately reduced activity. Biochemical characterization of G6PD types was performed. In the Saharian family in which inheritance pattern of mutant G6PD was investigated, two alleles were found, the Negroid marker GdA- and Gd+Madrona, segregating among the different members. In the Pygmy family the Gd+Ibadan-Austin gene was detected. The incidence of these mutations in the groups studied, a comparison with similar G6PD variants observed in other African populations and the geographic distribution of these slow molecules are discussed in this paper.
mesh_terms: D000350:Africa, Central; D000352:Africa, Northern; D000483:Alleles; D044383:Black People; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D005954:Glucosephosphate Dehydrogenase