title: [Analysis of the hemochromatosis gene (HFE) mutations, C282Y and H63D, in the populations of Central Asia].
abstract: Analysis of the C282Y and H63D mutations in the HFE gene was carried out in 594 individuals representing seven indigenous populations of Central Asia. Among the populations examined, mutation C28Y was found in Uighurs with the frequency of 0.009, and in Kazakhs and Tajiks with the frequency of 0.012. The mutation was absent in Uzbeks, Kyrgyzes, Kurds, and Turkmens. Mutation H63D was detected in all populations studied with the frequencies ranging from 0.024 (Tajiks) to 0.139 (Turkmens). Judging by the frequencies of the mutations of interest, the populations examined occupied the intermediate position between the European and Eastern Asian populations, which corresponded to their geographical position.
authors.forename: R I
authors.initials: RI
authors.lastname: Khusainova
authors.forename: N N
authors.initials: NN
authors.lastname: Khusnutdinova
authors.forename: E K
authors.initials: EK
authors.lastname: Khusnutdinova
mesh_terms: D019943:Amino Acid Substitution; D001209:Asia, Central / Q000208:ethnology; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency; D006432:Hemochromatosis / Q000208:ethnology* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins