title: G6PD Ube, a glucose-6-phosphate dehydrogenase variant found in four unrelated Japanese families.
abstract: A total of 6,120 Japanese males were screened for glucose-6-phosphate dehydrogenase deficiency (G6PD). Five cases with the deficiency were discovered. Two of them and an additional two cases have the same variant, G6PD Ube, characterized by moderate enzyme deficiency, fast moving enzyme activity on electrophoresis, high Ki Nadph, utilization of substrate analogues, kinetics, pH optima, and stability. This variant was distinguished for G6PD A- and from other Oriental variants by biochemical parameters. Differences in the frequency and type of the variants between southern Asia and Japan, suggest that the Japanese who have been isolated on islands where malaria is not endemic, may have developed their own variant traits.
mesh_terms: D000328:Adult; D004592:Electrophoresis, Starch Gel; D005260:Female; D005787:Gene Frequency; D005954:Glucosephosphate Dehydrogenase; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic
chemical_list: D005954:Glucosephosphate Dehydrogenase