GENE, Núcleo de Genética Médica, Belo Horizonte, MG, Brasil.
Braz J Med Biol Res. 2009 Oct;42(10):870-6. doi: 10.1590/s0100-879x2009005000026. Epub 2009 Sep 11.
We review studies from our laboratories using different molecular tools to characterize the ancestry of Brazilians in reference to their Amerindian, European and African roots. Initially we used uniparental DNA markers to investigate the contribution of distinct Y chromosome and mitochondrial DNA lineages to present-day populations. High levels of genetic admixture and strong directional mating between European males and Amerindian and African females were unraveled. We next analyzed different types of biparental autosomal polymorphisms. Especially useful was a set of 40 insertion-deletion polymorphisms (indels) that when studied worldwide proved exquisitely sensitive in discriminating between Amerindians, Europeans and Sub-Saharan Africans. When applied to the study of Brazilians these markers confirmed extensive genomic admixture, but also demonstrated a strong imprint of the massive European immigration wave in the 19th and 20th centuries. The high individual ancestral variability observed suggests that each Brazilian has a singular proportion of Amerindian, European and African ancestries in his mosaic genome. In Brazil, one cannot predict the color of persons from their genomic ancestry nor the opposite. Brazilians should be assessed on a personal basis, as 190 million human beings, and not as members of color groups.
我们回顾了我们实验室使用不同分子工具的研究,以描述巴西人的祖先,涉及他们的美洲印第安人、欧洲人和非洲人根源。最初,我们使用单倍体 DNA 标记来研究不同的 Y 染色体和线粒体 DNA 谱系对现代人群的贡献。揭示了遗传混合程度高,欧洲男性与美洲印第安人和非洲女性之间存在强烈的定向交配。我们接下来分析了不同类型的双亲常染色体多态性。一套 40 个插入-缺失多态性(indels)特别有用,当在全球范围内研究时,它们在区分美洲印第安人、欧洲人和撒哈拉以南非洲人方面非常敏感。当应用于巴西人的研究时,这些标记证实了广泛的基因组混合,但也证明了 19 世纪和 20 世纪大规模欧洲移民浪潮的强烈印记。观察到的个体祖先变异性高表明,每个巴西人在其镶嵌基因组中都有独特的美洲印第安人、欧洲人和非洲人祖先比例。在巴西,不能根据一个人的基因组祖先来预测其肤色,反之亦然。应该根据个人情况评估巴西人,而不是根据肤色群体来评估。