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用于研究法医短串联重复序列(STR)分布地理模式的空间明确模型:在地中海东北部的应用

Spatially Explicit Models to Investigate Geographic Patterns in the Distribution of Forensic STRs: Application to the North-Eastern Mediterranean.

作者信息

Messina Francesco, Finocchio Andrea, Akar Nejat, Loutradis Aphrodite, Michalodimitrakis Emmanuel I, Brdicka Radim, Jodice Carla, Novelletto Andrea

机构信息

Department of Biology, University "Tor Vergata", Rome, Italy.

Pediatrics Department, TOBB-Economy and Technology University Hospital, Ankara, Turkey.

出版信息

PLoS One. 2016 Nov 29;11(11):e0167065. doi: 10.1371/journal.pone.0167065. eCollection 2016.

Abstract

Human forensic STRs used for individual identification have been reported to have little power for inter-population analyses. Several methods have been developed which incorporate information on the spatial distribution of individuals to arrive at a description of the arrangement of diversity. We genotyped at 16 forensic STRs a large population sample obtained from many locations in Italy, Greece and Turkey, i.e. three countries crucial to the understanding of discontinuities at the European/Asian junction and the genetic legacy of ancient migrations, but seldom represented together in previous studies. Using spatial PCA on the full dataset, we detected patterns of population affinities in the area. Additionally, we devised objective criteria to reduce the overall complexity into reduced datasets. Independent spatially explicit methods applied to these latter datasets converged in showing that the extraction of information on long- to medium-range geographical trends and structuring from the overall diversity is possible. All analyses returned the picture of a background clinal variation, with regional discontinuities captured by each of the reduced datasets. Several aspects of our results are confirmed on external STR datasets and replicate those of genome-wide SNP typings. High levels of gene flow were inferred within the main continental areas by coalescent simulations. These results are promising from a microevolutionary perspective, in view of the fast pace at which forensic data are being accumulated for many locales. It is foreseeable that this will allow the exploitation of an invaluable genotypic resource, assembled for other (forensic) purposes, to clarify important aspects in the formation of local gene pools.

摘要

据报道,用于个体识别的人类法医STR在群体间分析方面作用不大。已经开发了几种方法,这些方法纳入了个体空间分布的信息,以描述多样性的排列情况。我们对从意大利、希腊和土耳其的许多地点获得的大量人群样本进行了16个法医STR的基因分型,这三个国家对于理解欧洲/亚洲交界处的不连续性和古代迁徙的遗传遗产至关重要,但在以前的研究中很少一起呈现。通过对完整数据集进行空间主成分分析,我们检测到了该地区人群亲缘关系的模式。此外,我们设计了客观标准,以将整体复杂性降低到简化数据集中。应用于这些后一组数据集的独立空间明确方法趋同地表明,从整体多样性中提取关于长程到中程地理趋势和结构的信息是可能的。所有分析都呈现出背景渐变变异的图景,每个简化数据集都捕捉到了区域不连续性。我们结果的几个方面在外部STR数据集上得到了证实,并重复了全基因组SNP分型的结果。通过合并模拟推断出主要大陆区域内有高水平的基因流动。从微观进化的角度来看,鉴于许多地区的法医数据积累速度很快,这些结果很有前景。可以预见,这将允许利用为其他(法医)目的而收集的宝贵基因型资源,来阐明当地基因库形成中的重要方面。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e6e2/5127579/53c080fcc3e6/pone.0167065.g001.jpg

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