Dogan S, Babic N, Gurkan C, Goksu A, Marjanovic D, Hadziavdic V
Department of Genetics and Bioengineering, International Burch University, Francuske revolucije bb, 71210 Ilidža, Sarajevo, Bosnia and Herzegovina.
Department of Biology, Faculty of Natural Sciences and Mathematics, University of Tuzla, Univerzitetska 4, 75000 Tuzla, Bosnia and Herzegovina.
Homo. 2016 Dec;67(6):471-483. doi: 10.1016/j.jchb.2016.10.003. Epub 2016 Nov 1.
Y-chromosomal haplogroups are sets of ancestrally related paternal lineages, traditionally assigned by the use of Y-chromosomal single nucleotide polymorphism (Y-SNP) markers. An increasingly popular and a less labor-intensive alternative approach has been Y-chromosomal haplogroup assignment based on already available Y-STR data using a variety of different algorithms. In the present study, such in silico haplogroup assignments were made based on 23-loci Y-STR data for 100 unrelated male individuals from the Tuzla Canton, Bosnia and Herzegovina (B&H) using the following four different algorithms: Whit Athey's Haplogroup Predictor, Jim Cullen's World Haplogroup & Haplogroup-I Subclade Predictor, Vadim Urasin's YPredictor and the NevGen Y-DNA Haplogroup Predictor. Prior in-house assessment of these four different algorithms using a previously published dataset (n=132) from B&H with both Y-STR (12-loci) and Y-SNP data suggested haplogroup misassignment rates between 0.76% and 3.02%. Subsequent analyses with the Tuzla Canton population sample revealed only a few differences in the individual haplogroup assignments when using different algorithms. Nevertheless, the resultant Y-chromosomal haplogroup distribution by each method was very similar, where the most prevalent haplogroups observed were I, R and E with their sublineages I2a, R1a and E1b1b, respectively, which is also in accordance with the previously published Y-SNP data for the B&H population. In conclusion, results presented herein not only constitute a concordance study on the four most popular haplogroup assignment algorithms, but they also give a deeper insight into the inter-population differentiation in B&H on the basis of Y haplogroups for the first time.
Y染色体单倍群是一组具有共同祖先的父系谱系,传统上是通过使用Y染色体单核苷酸多态性(Y-SNP)标记来确定的。一种越来越流行且劳动强度较小的替代方法是基于已有的Y-STR数据,使用各种不同算法进行Y染色体单倍群分型。在本研究中,利用来自波斯尼亚和黑塞哥维那(波黑)图兹拉州的100名无亲缘关系男性个体的23个位点Y-STR数据,使用以下四种不同算法进行了这种计算机模拟单倍群分型:惠特·阿西的单倍群预测器、吉姆·卡伦的世界单倍群和单倍群-I亚分支预测器、瓦迪姆·乌拉辛的YPredictor以及NevGen Y-DNA单倍群预测器。此前使用来自波黑的一个先前发表的数据集(n = 132),该数据集同时包含Y-STR(12个位点)和Y-SNP数据,对这四种不同算法进行的内部评估表明,单倍群错误分型率在0.76%至3.02%之间。随后对图兹拉州人群样本的分析显示,使用不同算法时,个体单倍群分型仅存在一些差异。然而,每种方法得到的Y染色体单倍群分布非常相似,其中观察到的最常见单倍群分别是I、R和E及其亚分支I2a、R1a和E1b1b,这也与先前发表的波黑人群Y-SNP数据一致。总之,本文给出的结果不仅是对四种最流行的单倍群分型算法的一致性研究,而且首次基于Y单倍群对波黑人群间的分化提供了更深入的见解。