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通过经验和模拟的祖先染色体片段全基因组分布来探索群体混合动态。

Exploring population admixture dynamics via empirical and simulated genome-wide distribution of ancestral chromosomal segments.

机构信息

Max Planck Independent Research Group on Population Genomics, Chinese Academy of Sciences and Max Planck Society (CAS-MPG) Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.

出版信息

Am J Hum Genet. 2012 Nov 2;91(5):849-62. doi: 10.1016/j.ajhg.2012.09.008. Epub 2012 Oct 25.

Abstract

The processes of genetic admixture determine the haplotype structure and linkage disequilibrium patterns of the admixed population, which is important for medical and evolutionary studies. However, most previous studies do not consider the inherent complexity of admixture processes. Here we proposed two approaches to explore population admixture dynamics, and we demonstrated, by analyzing genome-wide empirical and simulated data, that the approach based on the distribution of chromosomal segments of distinct ancestry (CSDAs) was more powerful than that based on the distribution of individual ancestry proportions. Analysis of 1,890 African Americans showed that a continuous gene flow model, in which the African American population continuously received gene flow from European populations over about 14 generations, best explained the admixture dynamics of African Americans among several putative models. Interestingly, we observed that some African Americans had much more European ancestry than the simulated samples, indicating substructures of local ancestries in African Americans that could have been caused by individuals from some particular lineages having repeatedly admixed with people of European ancestry. In contrast, the admixture dynamics of Mexicans could be explained by a gradual admixture model in which the Mexican population continuously received gene flow from both European and Amerindian populations over about 24 generations. Our results also indicated that recent gene flows from Sub-Saharan Africans have contributed to the gene pool of Middle Eastern populations such as Mozabite, Bedouin, and Palestinian. In summary, this study not only provides approaches to explore population admixture dynamics, but also advances our understanding on population history of African Americans, Mexicans, and Middle Eastern populations.

摘要

遗传混合过程决定了混合人群的单倍型结构和连锁不平衡模式,这对于医学和进化研究很重要。然而,大多数先前的研究并未考虑混合过程的固有复杂性。在这里,我们提出了两种方法来探索人群混合动态,通过分析全基因组的经验和模拟数据,我们证明了基于不同祖先染色体片段分布(CSDAs)的方法比基于个体祖先比例分布的方法更有效。对 1890 名非裔美国人的分析表明,一个连续的基因流动模型,即非洲裔美国人人口在大约 14 代中持续从欧洲人口中获得基因流动,最能解释非洲裔美国人的混合动态,而在几个假设模型中,这种模型最佳。有趣的是,我们观察到一些非洲裔美国人的欧洲祖先比例远远高于模拟样本,这表明非洲裔美国人中存在局部祖先的亚结构,这可能是由于某些特定谱系的个体与欧洲裔祖先反复混合造成的。相比之下,墨西哥人的混合动态可以用一个逐渐混合模型来解释,在这个模型中,墨西哥人口在大约 24 代中持续从欧洲和美洲原住民人口中获得基因流动。我们的研究结果还表明,来自撒哈拉以南非洲的最近基因流动为中东人群(如莫扎比人、贝都因人、巴勒斯坦人)的基因库做出了贡献。总之,这项研究不仅提供了探索人群混合动态的方法,还增进了我们对非裔美国人、墨西哥人和中东人群的人口历史的理解。

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