title: Two commonly occurring nucleotide base substitutions in Chinese G6PD variants.
abstract: Using a direct PCR sequencing technique, we have identified two DNA base substitutions in 8 different biochemical G6PD variants of Chinese origin. Neither one of these abnormalities has been reported in other ethnic groups. An abnormality (C1) of G to T substitution at cDNA 1376 causing an amino acid change from Arg to Leu has been found in 3 variants. Another abnormality (C2) of G to A substitution at cDNA 1388 causing an amino acid change from Arg to His has been found in 5 variants. Both C1 and C2 are located in exon 12 of the G6PD gene and are only 12 base pairs apart. However, C1 is associated with a significant increase in the deamino-NADP utilization rate, whereas C2 is not. Taken together, our data suggest that C1 and C2 are very common among Chinese with a G6PD deficiency and exon 12 may define an important functional domain of the human G6PD.
authors.affiliation: Chang Gung Medical College, Taiwan.
authors.forename: D T
authors.initials: DT
authors.lastname: Chiu
authors.forename: L
authors.initials: L
authors.lastname: Zuo
authors.forename: E
authors.initials: E
authors.lastname: Chen
authors.forename: L
authors.initials: L
authors.lastname: Chao
authors.forename: E
authors.initials: E
authors.lastname: Louie
authors.forename: B
authors.initials: B
authors.lastname: Lubin
authors.forename: T Z
authors.initials: TZ
authors.lastname: Liu
authors.forename: C S
authors.initials: CS
authors.lastname: Du
mesh_terms: D001483:Base Sequence; D002681:China; D005091:Exons; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood / Q000201:enzymology / Q000235:genetics; D007700:Kinetics; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D009838:Oligodeoxyribonucleotides; D005954:Glucosephosphate Dehydrogenase