Multiple geographic sources of region V 9-bp deletion haplotypes in Brazilians

We investigated 245 white Brazilians for the presence of the 9-bp deletion in the intergenic COII/tRNA(Lys) region of the mitochondrial DNA (mtDNA) an d found the deletion in 21 individuals (8.6% of the sample). Because white Brazilians are believed to be predominantly of European descent and this ma rker is rare in Europe, we established the geographic origin of these 21 mt DNA sequences by sequencing the hypervariable segment I of the mtDNA contro l region and by performing an RFLP analysis. Only 1 European mtDNA Lineage was identified. On the other hand, 16 of the individuals had matrilineages of Amerindian origin and 4 had African mtDNA haplotypes. These results demo nstrate that in the formation of the present-day white Brazilian population there was a significant contribution of Amerindian and African matrilineag es. Although these data initially appear surprising, they agree well with t he historical records of Brazilian colonization.