[用于比较y染色体str -单倍型的单倍配型程序及其在顿河哥萨克血统分析中的应用]。

Genetika Pub Date : 2016-05-01
M I Chukhryaeva, I O Ivanov, S A Frolova, S M Koshel, O M Utevska, R A Skhalyakho, A T Agdzhoyan, Yu V Bogunov, E V Balanovska, O P Balanovsky
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引用次数: 0

摘要

Y染色体STR单倍型在人群研究和法医DNA分析中被广泛用作有效的遗传标记。这项任务经常出现在比较个体或整个群体的单倍型谱。手动执行此任务过于费力,因此不现实。我们提出了一种计算STR单倍型之间相似性的算法。该算法适用于大量样品的分析。它是在计算机程序Haplomatch中实现的,它可以找到与目标单倍型不同的单倍型,通过0、1、2、3或更多的突变步骤。该程序可以在两种模式下运行:个体比较和群体比较。程序的灵活性(使用任何外部数据库的可能性),它的可用性(使用MS Excel电子表格),以及应用于其他染色体和其他物种的能力,可以使该软件成为群体遗传学和法医和家谱研究的一个新的有用工具。Haplomatch软件在我们的网站www.genofond.ru上免费提供。该程序被应用于研究哥萨克人的基因库。对上顿河哥萨克人代表性群体(N = 131)的y染色体多样性进行了实验分析。对STR单倍型的分析发现哥萨克人与东斯拉夫人群(特别是与南部和中部俄罗斯人以及乌克兰人)的遗传接近性,这证实了哥萨克人主要来自俄罗斯和乌克兰移民的假设。此外,发现了突厥语诺盖人的小遗传影响,可能是由于他们作为鞑靼层的一部分出现在顿河沃伊斯科。哥萨克人和高加索人的单倍型谱没有相似之处。本案例研究证明了Haplomatch软件在分析大量STR单倍型时的有效性。
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[The haplomatch program for comparing Y-chromosome STR-haplotypes and its application to the analysis of the origin of Don Cossacks].

STR haplotypes of the Y chromosome are widely used as effective genetic markers in studies of human populations and in forensic DNA analysis. The task often arises to compare the spectrum of haplotypes in individuals or entire populations. Performing this task manually is too laborious and thus unrealistic. We propose an algorithm for counting similarity between STR haplotypes. This algorithm is suitable for massive analyses of samples. It is implemented in the computer program Haplomatch, which makes it possible to find haplotypes that differ from the target haplotype by 0, 1, 2, 3, or more mutational steps. The program may operate in two modes: comparison of individuals and comparison of populations. Flexibility of the program (the possibility of using any external database), its usability (MS Excel spreadsheets are used), and the capability of being applied to other chromosomes and other species could make this software a new useful tool in population genetics and forensic and genealogical studies. The Haplomatch software is freely available on our website www.genofond.ru. The program is applied to studying the gene pool of Cossacks. Experimental analysis of Y-chromosomal diversity in a representative set (N = 131) of Upper Don Cossacks is performed. Analysis of the STR haplotypes detects genetic proximity of Cossacks to East Slavic populations (in particular, to Southern and Central Russians, as well as to Ukrainians), which confirms the hypothesis of the origin of the Cossacks mainly due to immigration from Russia and Ukraine. Also, a small genetic influence of Turkicspeaking Nogais is found, probably caused by their occurrence in the Don Voisko as part of the Tatar layer. No similarities between haplotype spectra of Cossacks and Caucasus populations are found. This case study demonstrates the effectiveness of the Haplomatch software in analyzing large sets of STR haplotypes.

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