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利用法医微卫星解开语言和地理隔离群体的遗传结构之谜:意大利东部阿尔卑斯山的调查。

Using forensic microsatellites to decipher the genetic structure of linguistic and geographic isolates: A survey in the eastern Italian Alps.

机构信息

Università di Roma La Sapienza, Dipartimento di Biologia Ambientale, Roma, Italy.

出版信息

Forensic Sci Int Genet. 2012 Dec;6(6):827-33. doi: 10.1016/j.fsigen.2012.04.001. Epub 2012 May 15.

Abstract

The study of geographically and/or linguistically isolated populations could represent a potential area of interaction between population and forensic genetics. These investigations may be useful to evaluate the suitability of loci which have been selected using forensic criteria for bio-anthropological studies. At the same time, they give us an opportunity to evaluate the efficiency of forensic tools for parentage testing in groups with peculiar allele frequency profiles. Within the frame of a long-term project concerning Italian linguistic isolates, we studied 15 microsatellite loci (Identifiler kit) comprising the CODIS panel in 11 populations from the north-eastern Italian Alps (Veneto, Trentino and Friuli Venezia Giulia regions). All our analyses of inter-population differentiation highlight the genetic distinctiveness of most Alpine populations comparing them either to each other or with large and non-isolated Italian populations. Interestingly, we brought to light some aspects of population genetic structure which cannot be detected using unilinear polymorphisms. In fact, the analysis of genotypic disequilibrium between loci detected signals of population substructure when all the individuals of Alpine populations are pooled in a single group. Furthermore, despite the relatively low number of loci analyzed, genetic differentiation among Alpine populations was detected at individual level using a Bayesian method to cluster multilocus genotypes. Among the various populations studied, the four linguistic minorities (Fassa Valley, Luserna, Sappada and Sauris) showed the most pronounced diversity and signatures of a peculiar genetic ancestry. Finally, we show that database replacement may affect estimates of probability of paternity even when the local database is replaced by another based on populations which share a common genetic background but which differ in their demographic history. These findings point to the importance of considering the demographic and cultural profile of populations in forensic applications, even in a context of substantial genetic homogeneity such as that of European populations.

摘要

对地理上和/或语言上隔离的人群的研究可能代表了群体遗传学与法医学之间的一个潜在的相互作用领域。这些研究可以用来评估那些根据法医学标准选择的、用于生物人类学研究的基因座的适用性。同时,它们也让我们有机会评估在具有特殊等位基因频率分布的群体中进行亲子鉴定的法医学工具的效率。在一个关于意大利语言隔离群体的长期项目框架内,我们研究了来自意大利东北部阿尔卑斯山地区(威尼托、特伦蒂诺和弗留利-威尼斯朱利亚地区)的 11 个人群的 15 个微卫星基因座(Identifiler 试剂盒),包括 CODIS 面板。我们对种群间分化的所有分析都强调了大多数阿尔卑斯山人群的遗传独特性,无论是将它们相互比较,还是与意大利的大型非隔离人群进行比较。有趣的是,我们揭示了一些不能用单一线粒体多态性检测到的人口遗传结构的方面。事实上,当将阿尔卑斯山人群的所有个体聚集在一个单一的群体中时,对基因座间基因型不平衡的分析检测到了种群亚结构的信号。此外,尽管分析的基因座数量相对较少,但使用贝叶斯方法对多基因座基因型进行聚类分析,在个体水平上检测到了阿尔卑斯山人群之间的遗传分化。在所研究的各种人群中,四个语言少数民族(法萨谷、卢塞纳、萨普达和索里斯)显示出最显著的多样性和独特遗传背景的特征。最后,我们表明,即使使用基于具有共同遗传背景但在人口历史上存在差异的群体的本地数据库来替代数据库,也可能会影响亲子关系概率的估计。这些发现表明,即使在欧洲人群这样的遗传高度同质的背景下,在法医应用中也必须考虑到人口的人口统计学和文化特征。

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