FACTOR-IX GENE HAPLOTYPES IN AMERINDIANS

We have determined the haplotypes of the factor IX gene for 95 Indians from 5 Brazilian Amazon tribes: Wayampi, Wayana-Apalai, Kayapo, Arara , and Yanomami. Eight polymorphisms linked to the factor IX gene were investigated: MseI (at 5', nt - 698), BamHI (at 5', nt - 561), DdeI (i ntron 1), BamHI (intron 2), XmnI (intron 3), TaqI (intron 4), MspI (in tron 4), and HhaI (at 3', similar to 8 kb). The results of the haploty pe distribution and the allele frequencies for each of the factor IX g ene polymorphisms in Amerindians were similar to the results reported for Asian populations but differed from results for other ethnic group s. Only five haplotypes were identified within the entire Amerindian s tudy population, and the haplotype distribution was significantly diff erent among the five tribes, with one (Arara) to four (Wayampi) haplot ypes being found per tribe. These findings indicate a significant hete rogeneity among the Indian tribes and contrast with the homogeneous di stribution of the P-globin gene cluster haplotypes but agree with our recent findings on the distribution of cu-globin gene cluster haplotyp es and the allele frequencies for six VNTRs in the same Amerindian tri bes. Our data represent the first study of factor IX-associated polymo rphisms in Amerindian populations and emphasizes the applicability of these genetic markers for population and human evolution studies.