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Factor VIII gene polymorphisms in Amerindians from the Brazilian Amazon region

Rendrik F. Franco^I; João F. Guerreiro^II; Marco A. Zago^I; Mauro S. Figueiredo^I

^IDepartamento de Clínica Médica, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14048-900 Ribeirão Preto, SP, Brasil. Tel.: (016) 623-1546. Fax: (016) 633-1144. E-mail: maurosf@usp.br. Send correspondence to M.S.F.
^IILaboratório de Genética Humana e Médica, Universidade Federal do Pará, 66075-900 Belém, PA, Brasil

ABSTRACT

We studied factor VIII gene polymorphisms in 95 Amerindians from five Amazon tribes: Wayampí, Wayana-Apalaí, Kayapó, Arára and Yanomámi. Six polymorphic sites were analyzed: BclI (intron 18), HindIII (intron 19), XbaI A (intron 22), BglI (intron 25), and two extragenic XbaI sites (XbaI B and XbaI C, located at 5' of the gene). The allele frequencies distribution in Amerindians was similar to that observed for Asian and Caucasian populations, but clearly differed from the pattern seen in Blacks. Allele frequencies for the BclI, HindIII and XbaI A polymorphisms were not significantly different among the five tribes, whereas BglI, XbaI B and XbaI C sites showed a heterogeneous distribution. These findings indicate heterogeneity among the Amerindian tribes, in contrast with the lack of diversity observed for the b-globin polymorphisms, but in agreement with our previous results for a-globin and VNTR analysis for the same tribes. Our results demonstrate genetic diversity among different Amerindian tribes. In addition, our study indicate that analysis of the factor VIII gene polymorphisms may represent a useful tool for population genetics studies.

Keywords: factor VIII; polymorphisms; Amerindians; Brazilian Amazon region.

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