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评估一组 Y-STR 中的慢突变用于法医学和进化研究。

Assessment of a subset of Slowly Mutating Y-STRs for forensic and evolutionary studies.

机构信息

BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU, Avda. Miguel de Unamuno, 3, 01006, Vitoria-Gasteiz, Spain.

Department of Molecular Biology, Colorado College, Colorado Springs, CO, 80903, USA.

出版信息

Forensic Sci Int Genet. 2018 May;34:e7-e12. doi: 10.1016/j.fsigen.2018.03.008. Epub 2018 Mar 20.

Abstract

Y-specific short tandem repeat (Y-STR) loci display different mutation rates and consequently are suitable for forensic, genealogical, and evolutionary studies that require different levels of timelines and resolution. Recent efforts have focused on implementing Rapidly Mutating (RM) Y-STRs to assess male specific profiles. However, due to their high mutation rate their use in kinship testing or in phylogenetic studies may be less reliable. In the present study, a novel Slowly Mutating Y-STR (SM) panel, including DYS388, DYS426, DYS461 (Y-GATA-A7.2), DYS485, DYS525, and DYS561, has been developed and evaluated in a sample set of 628 unrelated males from different worldwide populations. This panel is reproducible, sensitive, and robust for forensic applications and may be useful in conjunction with the common multiplexes, particularly in exclusion of kinship cases where minimal discrimination is reported employing the rapidly mutating Y-STR systems. Furthermore, SM Y-STR data may be of value in evolutionary studies to optimize the resolution of phylogenetic relationships generated with current Y-STR panel sets. In this study, we provide an extensive Y-STR allele and haplotype reference dataset for future applications.

摘要

Y 染色体特异性短串联重复序列(Y-STR)具有不同的突变率,因此适合进行法医学、家谱学和进化研究,这些研究需要不同时间线和分辨率。最近的研究重点是实施快速突变(RM)Y-STR 来评估男性特异性谱。然而,由于其高突变率,在亲属关系测试或系统发育研究中的应用可能不太可靠。在本研究中,我们开发并评估了一种新的缓慢突变 Y-STR(SM)面板,包括 DYS388、DYS426、DYS461(Y-GATA-A7.2)、DYS485、DYS525 和 DYS561,该面板在来自不同全球人群的 628 个无关男性样本中具有可重复性、敏感性和稳健性,可用于法医应用,特别是在排除亲属关系案件时,使用快速突变 Y-STR 系统报告最小的鉴别力。此外,SM Y-STR 数据可能在进化研究中具有价值,以优化使用当前 Y-STR 面板组生成的系统发育关系的分辨率。在这项研究中,我们提供了一个广泛的 Y-STR 等位基因和单倍型参考数据集,以供未来应用。

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