title: Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan.
abstract: We have developed a rapid and simple method to diagnose the molecular defects of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Chinese in Taiwan. This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. Ninety-four Chinese males with G6PD deficiency were studied. The results show that 50% (47 of 94) were G to T mutation at nucleotide (nt) 1376, 21.3% (20 of 94) were G to A mutation at nt 1388, 7.4% (7 of 94) were A to G mutation at nt 493, 7.4% (7 of 94) were A to G mutation at nt 95, 4.2% (4 of 94) were C to T mutation at nt 1024, 1.1% (1 of 94) was G to T mutation at nt 392, and 1.1% (1 of 94) was G to A mutation at nt 487. These results show that the former five mutations account for more than 90% of G6PD deficiency cases in Taiwan. Aside from showing that G to T change at nt 1376 is the most common mutation, our research indicates that nt 493 mutation is a frequent mutation among Chinese in Taiwan. We compared G6PD activity among different mutations, without discovering significant differences between them.
authors.affiliation: Department of Molecular Medicine, Taipei Municipal Jan-Ai Hospital, Taiwan, Republic of China.
authors.forename: J G
authors.initials: JG
authors.lastname: Chang
authors.forename: S S
authors.initials: SS
authors.lastname: Chiou
authors.forename: L I
authors.initials: LI
authors.lastname: Perng
authors.forename: T C
authors.initials: TC
authors.lastname: Chen
authors.forename: T C
authors.initials: TC
authors.lastname: Liu
authors.forename: L S
authors.initials: LS
authors.lastname: Lee
authors.forename: P H
authors.initials: PH
authors.lastname: Chen
authors.forename: T K
authors.initials: TK
authors.lastname: Tang
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D004262:DNA Restriction Enzymes / Q000378:metabolism*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D013624:Taiwan
chemical_list: D004247:DNA; D004262:DNA Restriction Enzymes