title: Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in patients of Chinese descent and identification of new base substitutions in the human G6PD gene.
abstract: The underlying DNA changes associated with glucose-6-phosphate dehydrogenase (G6PD)-deficient Asians have not been extensively investigated. To fill this gap, we sequenced the G6PD gene of 43 G6PD-deficient Chinese whose G6PD was well characterized biochemically. DNA samples were obtained from peripheral blood of these individuals for sequencing using a direct polymerase chain reaction (PCR) sequencing procedure. From these 43 samples, we have identified five different types of nucleotide substitutions in the G6PD gene: at cDNA 1388 from G to A (Arg to His); at cDNA 1376 from G to T (Arg to Leu); at cDNA 1024 from C to T (Leu to Phe); at cDNA 392 from G to T (Gly to Val); at cDNA 95 from A to G (His to Arg). These five nucleotide substitutions account for over 83% of our 43 G6PD-deficient samples and these substitutions have not been reported in non-Asians. The substitutions found at cDNA 392 and cDNA 1024 are new findings. The substitutions at cDNA 1376 and 1388 account for over 50% of the 43 samples examined indicating a high prevalence of these two alleles among G6PD-deficient Chinese. Our findings add support to the notion that diverse point mutations may account largely for much of the phenotypic heterogeneity of G6PD deficiency.
authors: Chang Gung Medical College, Tao-Yuan, Taiwan, China.
authors: D T
authors: DT
authors: Chiu
authors: L
authors: L
authors: Zuo
authors: L
authors: L
authors: Chao
authors: E
authors: E
authors: Chen
authors: E
authors: E
authors: Louie
authors: B
authors: B
authors: Lubin
authors: T Z
authors: TZ
authors: Liu
authors: C S
authors: CS
authors: Du
mesh_terms: D001213:Asian; D001483:Base Sequence; D002681:China / Q000208:ethnology; D004247:DNA / Q000737:chemistry; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013624:Taiwan / Q000208:ethnology
chemical_list: D004247:DNA; D005954:Glucosephosphate Dehydrogenase