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拉丁美洲各地人群的遗传多样性:对人口和医学遗传研究的影响。

Genetic diversity in populations across Latin America: implications for population and medical genetic studies.

机构信息

The Center for Population Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; The Charles F Bronfman Center for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

National Laboratory of Genomics for Biodiversity (UGA-LANGEBIO), CINVESTAV, Irapuato, Guanajuato, Mexico; School of Human Evolution and Social Change, Arizona State University, Tempe, AZ, USA.

出版信息

Curr Opin Genet Dev. 2018 Dec;53:98-104. doi: 10.1016/j.gde.2018.07.006. Epub 2018 Aug 17.

Abstract

Hispanic/Latino (H/L) populations, although linked by culture and aspects of shared history, reflect the complexity of history and migration influencing the Americas. The original settlement by indigenous Americans, followed by postcolonial admixture from multiple continents, has yielded localized genetic patterns. In addition, numerous H/L populations appear to have signatures of pre-colonization and post-colonization bottlenecks, indicating that tens of millions of H/Ls may harbor signatures of founder effects today. Based on both population and medical genetic findings we highlight the extreme differentiation across the Americas, providing evidence for why H/Ls should not be considered a single population in modern human genetics. We highlight the need for additional sampling of understudied H/L groups, and ramifications of these findings for genomic medicine in one-tenth of the world's population.

摘要

美籍西班牙裔/拉丁裔(H/L)人群虽然在文化和某些历史方面存在联系,但也反映了历史和移民的复杂性对美洲的影响。最初的美洲原住民定居点,随后是来自多个大陆的后殖民混合,产生了本地化的遗传模式。此外,许多 H/L 人群似乎具有前殖民和后殖民瓶颈的特征,这表明今天可能有数千万 H/L 人群具有奠基者效应的特征。基于人群和医学遗传学的发现,我们强调了整个美洲的极端分化,为 H/L 不应该被视为现代人类遗传学中的单一人群提供了证据。我们强调需要对研究较少的 H/L 群体进行更多的抽样,并探讨这些发现对全球十分之一人口的基因组医学的影响。

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