title: Molecular analysis of eight biochemically unique glucose-6-phosphate dehydrogenase variants found in Japan.
abstract: We analyzed the molecular mutations of eight known Japanese glucose-6-phosphate dehydrogenase (G6PD) variants with unique biochemical properties. Three of them were caused by novel missense mutations: G6PD Musashino by 185 C-->T, G6PD Asahikawa by 695 G-->A, and G6PD Kamiube by 1387 C-->T. Predicted amino acid substitutions causing asymptomatic variants G6PD Musashino (62 Pro-->Phe) and G6PD Kamiube (463 Arg-->Cys) were located in regions near the amino or carboxyl end of the polypeptide chain, whereas an amino acid change 232 Cys-->Tyr causing a class 1 variant G6PD Asahikawa was located in the region where amino acid alterations in some class 1 variants were clustered. The other five variants had known missense mutations, namely, G6PD Fukushima, 1246 G-->A, G6PD Morioka, 1339 G-->A, and G6PD Iwate, G6PD Niigata and G6PD Yamaguchi, 1160 G-->A, which cause variants, G6PD Tokyo, G6PD Santiago de Cuba, and G6PD Beverly Hills, respectively.
authors.affiliation: Okinaka Memorial Institute for Medical Research, Minato-ku, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Hirono
authors.forename: H
authors.initials: H
authors.lastname: Fujii
authors.forename: T
authors.initials: T
authors.lastname: Takano
authors.forename: Y
authors.initials: Y
authors.lastname: Chiba
authors.forename: Y
authors.initials: Y
authors.lastname: Azuno
authors.forename: S
authors.initials: S
authors.lastname: Miwa
mesh_terms: D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000209:etiology / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013329:Structure-Activity Relationship
chemical_list: D005954:Glucosephosphate Dehydrogenase