Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, P. R. China.
Department of Forensic Medicine, Guizhou Medical University, Guiyang, P. R. China.
Electrophoresis. 2022 Feb;43(4):632-644. doi: 10.1002/elps.202100253. Epub 2022 Jan 6.
Recently, next generation sequencing has shown the promising application value in forensic research. In this study, we constructed a multiplex amplification system of different molecular genetic markers based on the previous selected ancestry informative single nucleotide polymorphisms (SNPs), multi-allelic insertion/deletion (InDel) polymorphisms, microhaplotypes, and Y-chromosomal SNP/InDel loci, and evaluated forensic efficiencies of the system in Chinese Shaanxi Han, Chinese Hui, and Chinese Mongolian groups via the next generation sequencing platform. Ancestry information analyses of Shaanxi Han, Hui, and Mongolian groups revealed that most Mongolian individuals could be differentiated from Shaanxi Hans and Huis based on the selected ancestry informative SNPs. Multi-allelic InDels and microhaplotypes showed the multiple allele variations and possessed relatively high genetic polymorphisms in these three groups, indicating these loci could provide higher forensic efficiencies for individual identification and paternity testing. Based on Y-chromosomal SNPs, different haplogroup distributions were observed among Shaanxi Han, Hui, and Mongolian groups. In conclusion, the self-developed system could be used to simultaneously carry out the individual identification, paternity analysis, mixture deconvolution, forensic ancestry information analysis, and Y-chromosomal haplogroup inference, which could provide more valuable investigative clues in forensic practices.
近年来，下一代测序技术在法医研究中显示出了有前景的应用价值。在这项研究中，我们基于先前选择的与祖先相关的信息单核苷酸多态性（SNP）、多等位基因插入/缺失（InDel）多态性、微单倍型和 Y 染色体 SNP/InDel 位点，构建了一个不同分子遗传标记的多重扩增系统，并通过下一代测序平台评估了该系统在中国陕西汉族、回族和蒙古族群体中的法医学效率。对陕西汉族、回族和蒙古族群体的祖先信息分析表明，大多数蒙古族个体可以根据所选的与祖先相关的信息 SNP 与陕西汉族和回族区分开来。多等位基因 InDel 和微单倍型在这三个群体中表现出多个等位基因的变异，具有相对较高的遗传多态性，表明这些位点可以为个体识别和亲子鉴定提供更高的法医学效率。基于 Y 染色体 SNP，观察到陕西汉族、回族和蒙古族群体之间存在不同的单倍群分布。总之，本研究开发的系统可用于同时进行个体识别、亲子分析、混合物解析、法医祖先信息分析和 Y 染色体单倍群推断，可为法医学实践提供更有价值的调查线索。
