Mutant forms of erythrocyte glucose 6-phosphate dehydrogenase in Ashkenazi. Description of two new variants: G6PD Kirovograd and G6PD Zhitomir.
Two new variants of erythrocyte glucose 6-phosphate dehydrogenase are discovered in 3 unrelated Ashkenazi Jew patients with severe deficiency of enzyme. Both variants have a resemblance to 2 other variants in Ashkenazi: G6PD Boston and G6PD Kilgore, but have a significantly higher affinity for substrates and their analogues and are not associated with chronic hemolytic disease. Probably, all 4 variants arise from two ancestral mutations.
D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology; D006801:Humans; D007585:Jews; D002094:Republic of Belarus; D014455:Ukraine
D005954:Glucosephosphate Dehydrogenase