title: [HFE gene polymorphism in the population of Northern Asia].
abstract: Human HFE gene haplotype analysis with reference to IVS2(+4)t/c, IVS4(-44)t/c, IVS5(-47)a/g polymorphic sites was performed in different North Asian ethnic groups. Of the eight possible intronic haplotypes, TTG, TTA, CTA and CCA were identified. High frequency of the CCA haplotype appears to be a characteristic feature of all Asian native populations. Potential functional importance of IVS4(-44)t/c polymorphism is demonstrated. Patients presenting with iron overload syndrome are shown to have low frequency of IVS4(-44)c.
authors.forename: S V
authors.initials: SV
authors.lastname: Mikhaĭlova
authors.forename: A G
authors.initials: AG
authors.lastname: Romashchenko
authors.forename: V N
authors.initials: VN
authors.lastname: Babenko
authors.forename: M A
authors.initials: MA
authors.lastname: Gubina
authors.forename: D E
authors.initials: DE
authors.lastname: Soboleva
authors.forename: V F
authors.initials: VF
authors.lastname: Kobzev
authors.forename: M I
authors.initials: MI
authors.lastname: Voevoda
mesh_terms: D044466:Asian People / Q000235:genetics; D060148:HapMap Project; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007438:Introns; D007501:Iron / Q000378:metabolism; D019190:Iron Overload / Q000208:ethnology* / Q000235:genetics* / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics*; D053858:Metabolic Networks and Pathways / Q000235:genetics; D011110:Polymorphism, Genetic; D012800:Siberia
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron