[Patterns in the distribution of GPD- alleles in Azerbaijan. I. Incidence and polymorphism of glucose-6-phosphate dehydrogenase deficiency in the Shekii region of the Azerbaijan SSR].
Through examination of G6PD deficiency among 939 pupils of Shekii district of Azerbaijan 52 hemi-, 10 homo- and 58 heterozygous carriers of defect were found. Relatives of probands--inhabitants of 3 settlements in the Shekii district-- were examined on G6PD deficiency too. Average hemizygote frequency is 11.11%, heterozygotes frequency is 12.9%. The cases of disaccordance between phenotype and genotype in female carriers of Gd- are analysed using pedigree data.
D000483:Alleles; D001382:Azerbaijan; D002648:Child; D005260:Female; D006580:Genetic Carrier Screening; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008403:Mass Screening; D010375:Pedigree; D011110:Polymorphism, Genetic
D005954:Glucosephosphate Dehydrogenase
Zakonomernosti rasprostraneniia alleleĭ Gd- v Azerbaidzhane. Soobshchenie I. Chastota i polimorfizm na nedostatochnost' gliukozo-6-fosfatdegidrogenazy v Shekinskom raĭone Azerbaidzhanskoĭ SSR.