title: New glucose-6-phosphate dehydrogenase mutations from various ethnic groups.
abstract: Seven new mutations that produce glucose 6 phosphate dehydrogenase (G6PD) deficiency are described. Three are in variants that were biochemically characterized and described previously, while four were found in samples that had not been characterized biochemically. Several of the mutations affect the amino acids that are mutated in other G6PD variants. As had been noted previously, variants that are associated with nonspherocytic anemia are located either near the glucose 6 phosphate or the NADP binding sites. Variants more distant from these sites are not associated with chronic hemolysis.
authors.affiliation: Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: B
authors.initials: B
authors.lastname: Westwood
authors.forename: J T
authors.initials: JT
authors.lastname: Prchal
authors.forename: G
authors.initials: G
authors.lastname: Vaca
authors.forename: C S
authors.initials: CS
authors.lastname: Bartsocas
authors.forename: L
authors.initials: L
authors.lastname: Baronciani
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002677:Chile / Q000208:ethnology; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006115:Greece / Q000208:ethnology; D006801:Humans; D007564:Japan / Q000208:ethnology; D008800:Mexico / Q000208:ethnology; D009154:Mutation; D014481:United States / Q000208:ethnology
chemical_list: D005954:Glucosephosphate Dehydrogenase