title: Detection of point mutations in exon 2 of the G6PD gene in Chinese G6PD variants.
abstract: In the past few years, a total of 6 different mutations of the G6PD gene have been reported in China. One of these, the C6 mutation (A95-->G), accounted for about 15.4% of the Chinese G6PD variants. In order to develop a strategy for rapid detection of mutation-containing exons of the G6PD gene, we applied the single-strand conformation polymorphism (SSCP) technique to the detection of mutations in exon 2 of this gene. We observed four patients with abnormal migration patterns of the exon 2 band among 20 cases of G6PD variants. Direct PCR sequencing confirmed a T to C substitution in exon 2 that has previously been reported. This procedure is therefore of particular importance for the rapid detection of mutation-containing exons in the G6PD gene.
authors.affiliation: Department of Medical Genetics, Sun Yat-Sen University of Medical Sciences, Guangzhou.
authors.forename: W
authors.initials: W
authors.lastname: Xu
authors.forename: J
authors.initials: J
authors.lastname: Wang
authors.forename: X
authors.initials: X
authors.lastname: Hua
authors.forename: C
authors.initials: C
authors.lastname: Du
mesh_terms: D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D005796:Genes; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D004247:DNA; D005954:Glucosephosphate Dehydrogenase