title: Mutation analysis of the HFE gene in Brazilian populations.
abstract: We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 227 individuals from Brazil comprising 71 Caucasians, 91 racially mixed Caucasian African-derived Amerindians (both populations from Southeast Brazil), 85 African-derived subjects (from Northeast Brazil) and 75 Parakanã Indians. Allelic frequency of the mutation C. 845G(A (C282Y) was 1.4% in the Caucasian population, 1.1% in the African-derived population, 1.1% in the racially mixed normal controls and 0% in the Parakanã Indians. In the African-derived population, the C282Y mutation was present on chromosomes bearing the haplotype 6/1h according to Beutler and West (1997). Allelic frequency of the mutation C. 187C(G (H63D) was 16.3% in the Caucasian population, 7.5% in the African-derived population, 9.8% in the racially mixed controls and 0% in the Amerindians. The presence of these mutations in the African-derived population reflects the fact that these subjects may have undergone a non-identified racial admixture in their past history. The absence of both defects in the Amerindians suggests that these mutations have emerged after the migration of Polynesians to America, or that they may not have reached the Polynesian population until after the migration to America had occurred.
authors.affiliation: Hemocentro and Departamento de Clínica Médica-Faculdade de Ciencias Médicas, Universidade de Campinas, Campinas, São Paulo, Brazil.
authors.forename: M F
authors.initials: MF
authors.lastname: Agostinho
authors.forename: V R
authors.initials: VR
authors.lastname: Arruda
authors.forename: D S
authors.initials: DS
authors.lastname: Basseres
authors.forename: S
authors.initials: S
authors.lastname: Bordin
authors.forename: M C
authors.initials: MC
authors.lastname: Soares
authors.forename: R C
authors.initials: RC
authors.lastname: Menezes
authors.forename: F F
authors.initials: FF
authors.lastname: Costa
authors.forename: S T
authors.initials: ST
authors.lastname: Saad
mesh_terms: D000349:Africa / Q000208:ethnology; D044383:Black People / Q000235:genetics; D001938:Brazil / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005060:Europe / Q000208:ethnology; D005787:Gene Frequency; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000208:ethnology* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins; D020125:Mutation, Missense / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins