King's Forensics, Faculty of Life Sciences and Medicine, King's College London, UK.
Eurofins Forensic Services, Teddington, UK.
Forensic Sci Int Genet. 2018 May;34:e1-e6. doi: 10.1016/j.fsigen.2018.02.018. Epub 2018 Mar 2.
A total of 3128 Y-STR profiles from three UK and one Irish population have been analysed with the PowerPlex Y23 system and are reported here. Instances of haplotype sharing between apparently unrelated individuals were identified and further investigated with the use of the 5 additional markers within the Yfiler Plus kit, resulting in a reduction by 76% in the number of shared haplotypes. Furthermore, Yfiler Plus was also employed to verify locus deletions and duplications observed in Y23 genotypes while inconsistencies between the two kits were sequenced, revealing underlying Y23 primer binding site mutations in loci DYS392 and DYS576. Finally, the mechanism behind a previously reported population specific peak shift observed in DYS481 in South Asian samples has been evaluated and further investigated in a novel case of this phenomenon seen in a Black British individual featuring a different flanking region mutation.
共分析了来自英国三个地区和爱尔兰的 3128 个 Y-STR 谱，结果报告在这里。鉴定了看似无关个体之间的单倍型共享实例，并进一步使用 Yfiler Plus 试剂盒中的另外 5 个标记进行了研究，结果共享单倍型的数量减少了 76%。此外，还使用 Yfiler Plus 来验证 Y23 基因型中观察到的基因座缺失和重复，同时对两个试剂盒之间的不一致性进行测序，揭示了 DYS392 和 DYS576 基因座中潜在的 Y23 引物结合位点突变。最后，评估了之前在南亚样本中观察到的 DYS481 中报告的特定人群峰偏移的背后机制，并在一个具有不同侧翼区域突变的英国黑人个体中观察到这一现象的新案例中进一步进行了研究。
