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利用单亲遗传和双亲遗传的基因标记对阿根廷布宜诺斯艾利斯一个城市样本中的混合血统进行特征分析。

Characterization of admixture in an urban sample from Buenos Aires, Argentina, using uniparentally and biparentally inherited genetic markers.

作者信息

Martínez Marignac Veronica L, Bertoni Bernardo, Parra Esteban J, Bianchi Néstor O

机构信息

Multidisciplinary Institute of Cell Biology, Department of Population Molecular Genetics, La Plata, CP 1900, Buenos Aires, Argentina.

出版信息

Hum Biol. 2004 Aug;76(4):543-57. doi: 10.1353/hub.2004.0058.

Abstract

In this study we analyzed a sample of the urban population of La Plata, Argentina, using 17 mtDNA haplogroups, the DYS 199 Y-chromosome polymorphism, and 5 autosomal population-associated alleles (PAAs). The contribution of native American maternal lineages to the population of La Plata was estimated as 45.6%, whereas the paternal contribution was much lower (10.6%), clearly indicating directional mating. Regarding autosomal evidence of admixture, the relative European, native American, and West African genetic contributions to the gene pool of La Plata were estimated to be 67.55% (+/-2.7), 25.9% (+/-4.3), and 6.5% (+/-6.4), respectively. When admixture was calculated at the individual level, we found a low correlation between the ancestral contribution estimated with uniparental lineages and autosomal markers. Most of the individuals from La Plata with a native American mtDNA haplogroup or the DYS199*T native American allele show a genetic contribution at the autosomal level that can be traced primarily to Europe. The results of this study emphasize the need to use both uniparentally and biparentally inherited genetic markers to understand the history of admixed populations.

摘要

在本研究中,我们分析了阿根廷拉普拉塔市城市人口的一个样本,采用了17种线粒体DNA单倍群、DYS 199 Y染色体多态性以及5个常染色体群体相关等位基因(PAA)。估计美洲原住民母系血统对拉普拉塔市人口的贡献为45.6%,而父系贡献则低得多(10.6%),这清楚地表明了定向交配。关于混合的常染色体证据,估计欧洲、美洲原住民和西非对拉普拉塔市基因库的相对遗传贡献分别为67.55%(±2.7)、25.9%(±4.3)和6.5%(±6.4)。当在个体水平上计算混合情况时,我们发现用单亲系血统估计的祖先贡献与常染色体标记之间的相关性较低。拉普拉塔市大多数拥有美洲原住民线粒体DNA单倍群或DYS199*T美洲原住民等位基因的个体,其常染色体水平的遗传贡献主要可追溯到欧洲。本研究结果强调,需要同时使用单亲遗传和双亲遗传的遗传标记来了解混合群体的历史。

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