title: The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia.
abstract: A polymorphic site exists in exon 11 of G6PD: in the wild-type enzyme, nucleotide (NT) 1311 is a C, but is some individuals from diverse populations a T is present instead. Nine of 54 X chromosomes from Europeans of mixed origins, nine of 41 X chromosomes of Ashkenazi Jewish subjects, three of 18 X chromosomes of Sicilians, five of 20 African X chromosomes, and nine of 20 Asian Indian X chromosomes had the mutant genotype. In contrast, the mutation was found in only three of 59 Oriental X chromosomes and in three of 30 Central/South American X chromosomes. The mutation was absent from four samples of chimpanzee DNA. Twenty-one of 22 male subjects from Mediterranean countries who had the G6PD Mediterranean 563T genotype investigated in the present study or reported previously had a T at NT 1311. Only one had the normal C at NT 1311. In contrast, both G6PD Mediterranean563T males from the Indian subcontinent had the normal C at NT 1311. These findings suggest that the same mutation at nucleotide 563 giving rise to G6PD Mediterranean may have arisen independently in Europe and in Asia.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Clinic and Research Foundation, La Jolla, CA 92037.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: W
authors.initials: W
authors.lastname: Kuhl
mesh_terms: D000818:Animals; D001208:Asia; D001483:Base Sequence; D005060:Europe; D005091:Exons; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D008522:Mediterranean Sea; D008969:Molecular Sequence Data; D009154:Mutation; D002679:Pan troglodytes / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
chemical_list: D005954:Glucosephosphate Dehydrogenase