Mutation analysis of the HFE gene in Brazilian populations

We analyzed the frequency of the C282Y and H63D mutations in the HFE gene i n 227 individuals from Brazil comprising 71 Caucasians, 91 racially mixed C aucasian African-derived Amerindians (both populations from Southeast Brazi l), 85 African-derived subjects (from Northeast Brazil) and 75 Parakana Ind ians, Allelic frequency of the mutation C. 845G6A (C282Y) was 1.4% in the C aucasian population, 1.1% in the African-derived population, 1.1% in the ra cially mixed normal controls and 0% in the Parakana 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. 187C6G (H63D) was 16.3% in the Caucasian population, 7.5 % in the African-derived population, 9.8% in the racially mixed controls an d 0% in the Amerindians. The presence of these mutations in the African-der ived 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 occurre d.