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哥伦比亚安第斯山脉的现代混合人群与美洲原住民基因的连续性:对生物医学、人口和法医学研究的启示。

Native American gene continuity to the modern admixed population from the Colombian Andes: Implication for biomedical, population and forensic studies.

机构信息

Grupo de Citogenética, Filogenia y Evolución de Poblaciones, Facultad de Ciencias y Facultad de Ciencias de la Salud, Universidad del Tolima, Ibagué, Colombia.

Institute of Cancer and Genomics Sciences, University of Birmingham, UK.

出版信息

Forensic Sci Int Genet. 2018 Sep;36:e1-e7. doi: 10.1016/j.fsigen.2018.06.006. Epub 2018 Jun 7.

Abstract

Andean populations have variable degrees of Native American and European ancestry, representing an opportunity to study admixture dynamics in the populations from Latin America (also known as Hispanics). We characterized the genetic structure of two indigenous (Nasa and Pijao) and three admixed (Ibagué, Ortega and Planadas) groups from Tolima, in the Colombian Andes. DNA samples from 348 individuals were genotyped for six mitochondrial DNA (mtDNA), seven non-recombining Y-chromosome (NRY) region and 100 autosomal ancestry informative markers. Nasa and Pijao had a predominant Native American ancestry at the autosomal (92%), maternal (97%) and paternal (70%) level. The admixed groups had a predominant Native American mtDNA ancestry (90%), a substantial frequency of European NRY haplotypes (72%) and similar autosomal contributions from Europeans (51%) and Amerindians (45%). Pijao and nearby Ortega were indistinguishable at the mtDNA and autosomal level, suggesting a genetic continuity between them. Comparisons with multiple Native American populations throughout the Americas revealed that Pijao, had close similarities with Carib-speakers from distant parts of the continent, suggesting an ancient correlation between language and genes. In summary, our study aimed to understand Hispanic patterns of migration, settlement and admixture, supporting an extensive contribution of local Amerindian women to the gene pool of admixed groups and consistent with previous reports of European-male driven admixture in Colombia.

摘要

安第斯人群具有不同程度的美洲原住民和欧洲血统,这为研究拉丁美洲(也称为西班牙裔)人群的混合动态提供了机会。我们对哥伦比亚安第斯山脉托利马的两个原住民(纳萨和皮哈奥)和三个混合群体(伊瓦格、奥尔特加和普拉纳达斯)进行了遗传结构特征分析。从 348 名个体中提取 DNA 样本,对 6 个线粒体 DNA(mtDNA)、7 个非重组 Y 染色体(NRY)区域和 100 个常染色体祖先信息标记进行了基因分型。纳萨和皮哈奥在常染色体(92%)、母系(97%)和父系(70%)水平上都有主要的美洲原住民血统。混合群体具有主要的美洲原住民 mtDNA 血统(90%),欧洲 NRY 单倍型的频率相当高(72%),欧洲(51%)和美洲原住民(45%)的常染色体贡献相似。皮哈奥和附近的奥尔特加在 mtDNA 和常染色体水平上无法区分,表明它们之间存在遗传连续性。与美洲各地的多个美洲原住民群体进行比较发现,皮哈奥与来自该大陆遥远地区的加勒比语族群有密切的相似之处,这表明语言和基因之间存在古老的相关性。总之,我们的研究旨在了解西班牙裔的迁徙、定居和混合模式,支持当地美洲原住民妇女对混合群体基因库的广泛贡献,这与哥伦比亚此前报道的欧洲男性驱动的混合模式一致。

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