Adnan Atif, Ralf Arwin, Rakha Allah, Kousouri Nefeli, Kayser Manfred
Department of Forensic Sciences, University of Health Sciences, Lahore, Pakistan; Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
Forensic Sci Int Genet. 2016 Nov;25:45-51. doi: 10.1016/j.fsigen.2016.07.005. Epub 2016 Jul 9.
Y-chromosomal short tandem repeat (Y-STR) markers are commonly used in forensic genetics. Male-specific haplotypes provided by commercial Y-STR kits allow discriminating between many - but not all - unrelated men, while they mostly fail to separate related ones. Aiming to improve male relative and paternal lineage differentiation, a set of 13 rapidly-mutating (RM) Y-STRs was previously identified and introduced to forensic Y-chromosome analysis. Recently, their value was highlighted by separating 99% of over 12,200 unrelated men from 111 global populations, as well as 29% of over 2500 male relative pairs, the vast majority were father-sons. Here, we provide improved empirical evidence on differentiating closely related men with RM Y-STRs, most notably beyond father-sons, where previous data were limited. After careful quality control including genetic relationship testing, we used 572 Pakistani men belonging to 99 2-4 generation pedigrees covering 1568 pairs of men related by 1-6 meioses. Of those, 45% were differentiated by one or more of the 13 RM Y-STR markers. In contrast, only 14.7% of a subset of 1484 pairs from 94 pedigrees were separated by the commercial AmpFlSTR Y-filer kit. Combining previously published and new data, an overall differentiation rate of 35.3% was revealed for the RM Y-STR set based on 4096 pairs of men related by 1-20 meioses, compared to 9.6% with Y-filer based on 3645 pairs. Using father-son pair data from the present and previous studies, we provide updated RM Y-STR mutation rates. Locus-specific mutation rates ranged from 2.0×10 (7.0×10-4.3×10) to 6.9×10 (6.1×10-7.9×10) based on 2741-3143 meioses, with an average rate across all 13 RM Y-STR markers of 1.8×10 (1.7×10-1.9×10) based on 800 mutations from 44,922 meioses. The high haplotype diversity (h=0.9996) we observed among the unrelated men (N=105) underlines the value of this RM Y-STR set to differentiate paternal lineages even from endogamous populations such as from Pakistan.
Y染色体短串联重复序列（Y-STR）标记常用于法医遗传学。商业Y-STR试剂盒提供的男性特异性单倍型能够区分许多（但并非全部）无关男性，而对于有亲缘关系的男性大多无法区分。为了提高对男性亲属和父系谱系的区分能力，之前已鉴定出一组13个快速突变（RM）的Y-STR，并将其引入法医Y染色体分析。最近，通过对来自111个全球人群的12,200多名无关男性以及2500多对男性亲属（绝大多数是父子对）进行区分，凸显了它们的价值。在此，我们提供了关于使用RM Y-STR区分亲缘关系较近男性的改进实证证据，尤其是在父子关系之外，此前相关数据有限的情况。经过包括亲缘关系测试在内的仔细质量控制后，我们使用了572名巴基斯坦男性，他们属于99个2至4代家系，涵盖了1568对通过1至6次减数分裂相关的男性。其中，45%的男性被13个RM Y-STR标记中的一个或多个区分开来。相比之下，来自94个家系的1484对样本中的一个子集，只有14.7%能被商业AmpFlSTR Y-filer试剂盒区分。结合之前发表的数据和新数据，基于4096对通过1至20次减数分裂相关的男性，RM Y-STR组的总体区分率为35.3%，而基于3645对样本的Y-filer试剂盒的区分率为9.6%。利用本研究和之前研究中的父子对数据，我们提供了更新的RM Y-STR突变率。基于2741至3143次减数分裂，位点特异性突变率范围为2.0×10（7.0×10 - 4.3×10）至6.9×10（6.1×10 - 7.9×10），基于44,922次减数分裂中的800个突变，所有13个RM Y-STR标记的平均突变率为1.8×10（1.7×10 - 1.9×10）。我们在无关男性（N = 105）中观察到的高单倍型多样性（h = 0.
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