Institute of Forensic Medicine, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu 610041, China.
Shanghai Key Laboratory of Crime Scene Evidence, Shanghai Research Institute of Criminal Science and Technology, Shanghai 200083, China.
Forensic Sci Int Genet. 2018 Jul;35:141-148. doi: 10.1016/j.fsigen.2018.05.002. Epub 2018 May 26.
Massively parallel sequencing (MPS) technologies can sequence many targeted regions of multiple samples simultaneously and are gaining great interest in the forensic community. The Precision ID Identity Panel contains 90 autosomal SNPs and 34 upper Y-Clade SNPs, which was designed with small amplicons and optimized for forensic degraded or challenging samples. Here, 184 unrelated individuals from three East Asian minority ethnicities (Tibetan, Uygur and Hui) were analyzed using the Precision ID Identity Panel and the Ion PGM System. The sequencing performance and corresponding forensic statistical parameters of this MPS-SNP panel were investigated. The inter-population relationships and substructures among three investigated populations and 30 worldwide populations were further investigated using PCA, MDS, cladogram and STRUCTURE. No significant deviation from Hardy-Weinberg equilibrium (HWE) and Linkage Disequilibrium (LD) tests was observed across all 90 autosomal SNPs. The combined matching probability (CMP) for Tibetan, Uygur and Hui were 2.5880 × 10, 1.7480 × 10 and 4.6326 × 10 respectively, and the combined power of exclusion (CPE) were 0.999999386152271, 0.999999607712827 and 0.999999696360182 respectively. For 34 Y-SNPs, only 16 haplogroups were obtained, but the haplogroup distributions differ among the three populations. Tibetans from the Sino-Tibetan population and Hui with multiple ethnicities with an admixture population have genetic affinity with East Asian populations, while Uygurs of a Eurasian admixture population have similar genetic components to the South Asian populations and are distributed between East Asian and European populations. The aforementioned results suggest that the Precision ID Identity Panel is informative and polymorphic in three investigated populations and could be used as an effective tool for human forensics.
大规模并行测序（MPS）技术可以同时对多个样本的多个靶向区域进行测序，并且在法医界引起了极大的兴趣。Precision ID 身份面板包含 90 个常染色体 SNP 和 34 个上 Y 克隆 SNP，这些 SNP 设计为小扩增子，并针对法医降解或具有挑战性的样本进行了优化。在这里，使用 Precision ID 身份面板和 Ion PGM 系统分析了来自三个东亚少数民族（藏族、维吾尔族和回族）的 184 个无关个体。研究了该 MPS-SNP 面板的测序性能和相应的法医统计参数。使用 PCA、MDS、系统发育树和 STRUCTURE 进一步研究了三个调查人群与 30 个全球人群之间的种群关系和亚结构。在所有 90 个常染色体 SNP 中，均未观察到 Hardy-Weinberg 平衡（HWE）和连锁不平衡（LD）检验的显著偏离。藏族、维吾尔族和回族的联合匹配概率（CMP）分别为 2.5880×10、1.7480×10 和 4.6326×10，联合排除概率（CPE）分别为 0.999999386152271、0.999999607712827 和 0.999999696360182。对于 34 个 Y-SNP，仅获得了 16 个单倍群，但这三个群体的单倍群分布不同。来自汉藏人群的藏族人和具有混合人群的回族人具有东亚人群的遗传亲和力，而具有欧亚混合人群的维吾尔人具有与南亚人群相似的遗传成分，分布在东亚和欧洲人群之间。上述结果表明，Precision ID 身份面板在三个调查人群中具有信息性和多态性，可作为法医鉴定的有效工具。
