title: Glucose-6-phosphate dehydrogenase (G6PD) mutations and UDP-glucuronosyltransferase promoter polymorphism among G6PD deficient Kuwaitis.
abstract: Screening of 1,080 Kuwaiti male blood donors for glucose-6-phosphate dehydrogenase (G6PD) deficiency revealed this condition in 70 (6.5%) individuals. Mutation analysis of all 70 G6PD deficient samples performed by PCR/RFLP and direct sequencing identified the 563C-->T (Mediterranean) in 72.9%, 202G-->A (A(-)) in 14.3%, 1003G-->A (Chatham) in 7.1%, and 143T-->C (Aures) in 1.4%. In 3 cases (4.3%) mutations remain unknown. Genotyping of all G6PD deficient samples for UDP-glucuronosyltransferase 1 (UDPGT1) gene promoter polymorphism revealed (ta)6/(ta)6 in 38.6%, (ta)7/(ta)7 in 15.7%, (ta)6/(ta)7 in 44.3%, and (ta)7/(ta)8 allele in 1.4% of cases. Thus, 4% of males in the Kuwaiti population have G6PD deficiency coexisting with low activity of the UDPGT1 promoter.
authors.affiliation: Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat 80901, Kuwait. samilchuk@hotmail.com
authors.forename: Elena
authors.initials: E
authors.lastname: Samilchuk
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Al-Suliman
authors.forename: Esien
authors.initials: E
authors.lastname: Usanga
authors.forename: Sadika
authors.initials: S
authors.lastname: Al Awadi
mesh_terms: D005787:Gene Frequency; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000097:blood / Q000235:genetics*; D006801:Humans; D007730:Kuwait; D008297:Male; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: D005954:Glucosephosphate Dehydrogenase; D014453:Glucuronosyltransferase