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巴西的基因混合。

Genetic admixture in Brazil.

机构信息

Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

Departamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

出版信息

Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):928-938. doi: 10.1002/ajmg.c.31853. Epub 2020 Nov 18.

Abstract

We review studies from our laboratories using different molecular tools to characterize the Amerindian, European and African ancestry of Brazilians. 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. We then studied ancestry differences in different regions by statistically controlling them to eliminate color considerations. The European ancestry was predominant in all regions studied, with proportions ranging from 60.6% in the Northeast to 77.7% in the South. We propose that the immigration of 6 million Europeans to Brazil in the 19th and 20th centuries is in large part responsible for dissipating previous ancestry dissimilarities that reflected region-specific population histories. Brazilians should be assessed individually, as 210 million human beings, and not as members of specific regions or color groups.

摘要

我们回顾了我们实验室使用不同分子工具来描述巴西人的美洲印第安人、欧洲和非洲血统的研究。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。一组 40 个插入缺失多态性(indels)特别有用,当在全球范围内研究时,这些标记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。当应用于对巴西人的研究时,这些标记证实了广泛的基因组混合。然后,我们通过统计学控制来研究不同地区的祖先差异,以消除肤色的考虑。在所有研究的地区,欧洲血统都占主导地位,比例从东北部的 60.6%到南部的 77.7%不等。我们提出,19 世纪和 20 世纪 600 万欧洲移民到巴西在很大程度上导致了先前反映特定地区人口历史的祖先差异的消散。应该对巴西人进行个体评估,因为他们是 2.1 亿人类,而不是特定地区或肤色群体的成员。

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