A new future of forensic Y-chromosome analysis: Rapidly mutating Y-STRs for differentiating male relatives and paternal lineages
A new future of forensic Y-chromosome analysis: Rapidly mutating Y-STRs for differentiating male relatives and paternal lineages
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DOI：
10.1016/j.fsigen.2011.04.017
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发表时间：
2012-03-01
影响因子：
3.1
通讯作者：
Kayser, Manfred
中科院分区：
文献类型：
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作者：
Ballantyne, Kaye N.;Keerl, Victoria;Kayser, Manfred
目前用于法医遗传学的 9-17 Y 染色体短串联重复序列 (Y-STR) 组对许多人群中的不同父系谱系具有足够的分辨率，但在表达低 Y 染色体多样性的人群中分离父系谱系的能力较低。此外，当前的 Y-STR 集通常无法区分属于同一父系血统的相关男性，因此无法在个体层面得出法医解释所需的结论。最近，我们鉴定了一组新的快速突变 (RM) Y-STR，由 13 个突变率高于 1 x 10(-2) 的标记组成，而大多数 Y-STR，包括目前在法医学中使用的所有 Y-STR，其突变率约为 1 x 10(-3) 或更低。在本研究中，我们在从全球 51 个人群中抽取的 604 名无关男性 (HGDP-CEPH) 中证明，RM Y-STR 提供了显着更高的单倍型多样性和单倍型辨别能力（全球 604 名男性中的 8 名之间仅共享 3 个单倍型），而在相同样本中使用当前使用的最大 17 个 Y-STR (Yfiler) 组 (33 单倍型在 85 名男性之间共享）。因此，RM Y-STR 产生高分辨率的父系谱系分化，并且与 Yfiler 相比提供了相当大的改进。我们还发现，在这个全球数据集中，使用 RM Y-STR 的地理区域内和地理区域之间的遗传群体子结构比使用 Yfiler Y-STR 的要少得多。此外，通过本研究，我们提供了增强的数据证据，表明 RM Y-STR 面板在区分近亲和远亲男性方面非常成功。在 127 个独立谱系中，通过 1-20 次减数分裂转移进行父系连接的 305 名男性亲属中，我们发现，使用 RM Y-STR panel 时，66% 的人因突变事件而分离，而使用 Yfiler 时，只有 15% 的人因突变事件而分离；因此，相对于 Yfiler，RM Y-STR 的平均男性相对分化在统计上显着增加了 4.4 倍。 RM Y-STR 面板的功能强大，足以区分密切相关的雄性；近 50% 的父子和 60% 的兄弟可以用 RM Y-STR 来区分，而用 Yfiler 分别只有 7.7% 和 8%。因此，通过将 RM Y-STR 引入法医遗传学领域，我们为法医遗传学中目前 Y 染色体分析的一些局限性提供了重要的解决方案。 (C) 2011 Elsevier Ireland Ltd. 保留所有权利。
The panels of 9-17 Y-chromosomal short tandem repeats (Y-STRs) currently used in forensic genetics have adequate resolution of different paternal lineages in many human populations, but have lower abilities to separate paternal lineages in populations expressing low Y-chromosome diversity. Moreover, current Y-STR sets usually fail to differentiate between related males who belong to the same paternal lineage and, as a consequence, conclusions cannot be drawn on the individual level as is desirable for forensic interpretations. Recently, we identified a new panel of rapidly mutating (RM) Y-STRs, composed of 13 markers with mutation rates above 1 x 10(-2), whereas most Y-STRs, including all currently used in forensics, have mutation rates in the order of 1 x 10(-3) or lower. In the present study, we demonstrate in 604 unrelated males sampled from 51 worldwide populations (HGDP-CEPH) that the RM Y-STRs provide substantially higher haplotype diversity and haplotype discrimination capacity (with only 3 haplotypes shared between 8 of the 604 worldwide males), than obtained with the largest set of 17 currently used Y-STRs (Yfiler) in the same samples (33 haplotypes shared between 85 males). Hence, RM Y-STRs yield high-resolution paternal lineage differentiation and provide a considerable improvement compared to Yfiler. We also find in this worldwide dataset substantially less genetic population substructure within and between geographic regions with RM Y-STRs than with Yfiler Y-STRs. Furthermore, with the present study we provide enhanced data evidence that the RM Y-STR panel is extremely successful in differentiating between closely and distantly related males. Among 305 male relatives, paternally connected by 1-20 meiotic transfers in 127 independent pedigrees, we show that 66% were separated by mutation events with the RM Y-STR panel whereas only 15% were with Yfiler; hence, RM Y-STRs provide a statistically significant 4.4-fold increase of average male relative differentiation relative to Yfiler. The RM Y-STR panel is powerful enough to separate closely related males; nearly 50% of the father and sons, and 60% of brothers could be distinguished with RM Y-STRs, whereas only 7.7% and 8%, respectively, with Yfiler. Thus, by introducing RM Y-STRs to the forensic genetic community we provide important solutions to several of the current limitations of Y chromosome analysis in forensic genetics. (C) 2011 Elsevier Ireland Ltd. All rights reserved.