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基于地理信息系统的阿根廷人群遗传混合的空间评估

Spatial assessment of Argentinean genetic admixture with geographical information systems.

机构信息

Institute for Medical Biometry, Informatics and Epidemiology (IMBIE), University of Bonn, Sigmund-Freud Str. 25, 53105 Bonn, Germany.

出版信息

Forensic Sci Int Genet. 2011 Aug;5(4):297-302. doi: 10.1016/j.fsigen.2010.05.003. Epub 2010 Jun 19.

Abstract

In recent years there has been much attention to Argentinean population stratification. We were interested in assessing population stratification from a geographical perspective and summarizing it in form of maps. We mapped the genetic admixture of the extant male population in central and northern Argentina on the basis of forensic Y-chromosomal haplotypes. We addressed the question which group of genetically similar individuals is predominant in this area. Haplotypes containing seven Y-chromosomal short tandem repeat polymorphisms (Y-STRs), also known as microsatellites - DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393 - were constructed for 145 individuals, recruited in 10 provinces. 97 distinct haplotypes were clustered into four clusters according to molecular distances. A genetic geostatistical analysis was conducted with the open-source geographical information system GRASS GIS. For each haplotype cluster, the according frequency was spatially interpolated over the total study area. Juxtaposing the interpolation surfaces, we screened point-wisely the maximal frequency as well as the label of the respective cluster. The screening results were combined in one summary map. We repeated this procedure for the second maximal frequencies. The resulting maps subdivide the study area into continuous regions comprising one predominant group of similar haplotypes. The first summary map divides the study area into three regions and the second summary map divides the area into four regions. The results of our analysis indicate that two groups of similar European haplotypes alternatively dominate the largest extension of the Argentinean territory. A third group, including South-American haplotypes, dominates the indigenous northwestern Argentinean area. The last group, including worldwide dispersed haplotypes, preponderates in frequency in second place in central Argentina. Our findings confirm a widespread European paternal ancestry, a substantial Amerindian contribution in the northwest, as well as a considerable proportion of diverse paternal lineages. In this work, we further discuss these findings in reference to ethno-historical, genetic, and demographic information.

摘要

近年来,阿根廷的人口分层问题引起了广泛关注。我们有兴趣从地理角度评估人口分层,并以地图的形式对其进行总结。我们根据法医 Y 染色体单倍型对阿根廷中北部现存男性人口的基因混合情况进行了绘图。我们提出了一个问题,即在该地区,哪一组遗传相似的个体占主导地位。我们构建了 145 名个体的 7 个 Y 染色体短串联重复多态性(Y-STRs),也称为微卫星 - DYS19、DYS389I、DYS389II、DYS390、DYS391、DYS392、DYS393 - 的单倍型。这些个体来自阿根廷的 10 个省份。根据分子距离,97 个不同的单倍型被分为 4 个簇。使用开源地理信息系统 GRASS GIS 进行了遗传地质统计学分析。对于每个单倍型簇,根据总研究区域的频率进行了空间插值。将插值曲面并置,我们逐点筛选出最大频率和各自簇的标签。筛选结果合并在一张摘要地图上。我们对第二大频率重复了此过程。生成的地图将研究区域划分为包含一组相似单倍型的连续区域。第一张摘要地图将研究区域分为三个区域,第二张摘要地图将该区域分为四个区域。我们的分析结果表明,两组相似的欧洲单倍型交替主导着阿根廷最大的领土。第三组包括南美单倍型,主导着阿根廷西北部的土著地区。最后一组包括世界各地分散的单倍型,在阿根廷中部的频率中占第二位。我们的研究结果证实了广泛的欧洲父系祖先、西北部的大量美洲印第安人贡献,以及多样化的父系血统的相当比例。在这项工作中,我们进一步讨论了这些发现,参考了民族历史、遗传和人口统计学信息。

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