title: Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene.
abstract: In this study, we investigated whether glucose-6-phosphate dehydrogenase (G6PD) promoter mutations are responsible for G6PD deficiency. We analysed the G6PD proximal promoter and the 5' untranslated region (UTR) in 65 G6PD-deficient individuals, in which no mutations have been found in the G6PD gene coding sequences, using a nonradioactive polymerase chain reaction/single-strand conformation polymorphism (PCR/SSCP) analysis. We identified no sequence variations in the G6PD core promoter or in the 5' UTR of these G6PD-deficient individuals, which indicates that G6PD deficiency is not associated with promoter mutations in the G6PD locus.
authors.affiliation: Nursing Military Academy, Laboratory of Research, Athens, Greece.
authors.forename: Panayiotis G
authors.initials: PG
authors.lastname: Menounos
authors.forename: George A
authors.initials: GA
authors.lastname: Garinis
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006115:Greece; D006801:Humans; D008297:Male; D008889:Military Personnel; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic
chemical_list: D005954:Glucosephosphate Dehydrogenase