title: Population study of common glucose-6-phosphate dehydrogenase mutations in Kuwait.
abstract: DNA samples from 206 unrelated Kuwaitis of both sexes, i.e. 200 randomly selected individuals and 6 glucose-6-phosphate-dehydrogenase (G6PD)-deficient probands, have been analyzed by the PCR/RFLP technique for mutations underlying the most common G6PD-deficient variants (Mediterranean and A-). At the first step all samples were studied for the 563C-->T and 376A-->G mutations, then the samples positive for 376A-->G were further analyzed for 202G-->A, 680G-->T and 968T-->C mutations. Three mutations (563C-->T, 376A-->G and 202G-->A) were found to be present in the Kuwaiti population at polymorphic frequencies (0.0503, 0.0215 and 0.0111, respectively). Nineteen out of 20 unrelated Kuwaiti chromosomes with 563C-->T had Mediterranean haplotype as judged by 1311C-->T polymorphism. The frequency of G6PD-deficient genotypes was 4.5% (5.73% in males and 2.56% in females).
authors.affiliation: Kuwait Medical Genetics Center, Kuwait.
authors.forename: E
authors.initials: E
authors.lastname: Samilchuk
authors.forename: B
authors.initials: B
authors.lastname: D'Souza
authors.forename: S
authors.initials: S
authors.lastname: Al-Awadi
mesh_terms: D005260:Female; D005828:Genetics, Population; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D007730:Kuwait; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005954:Glucosephosphate Dehydrogenase