Multi-Omics Innovative Research Center of Forensic Identification; Department of Forensic Genetics, School of Forensic Medicine, Southern Medical University, Guangzhou, 510515, China.
Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, 710000, China.
Mol Genet Genomics. 2020 Jul;295(4):1027-1038. doi: 10.1007/s00438-020-01660-2. Epub 2020 Mar 23.
When traditional short tandem repeat profiling fails to provide valuable information to arrest the criminal, forensic ancestry inference of the biological samples left at the crime scene will probably offer investigative leads and facilitate the investigation process of the case. That is why there are consistent efforts in developing panels for ancestry inference in forensic science. Presently, a 30-plex next generation sequencing-based assay was exploited in this study by assembling well-differentiated single nucleotide polymorphisms for ancestry assignment of unknown individuals from three continental populations (African, European and East Asian). And meanwhile, relatively balanced population-specific differentiation values were maintained to avoid the over-estimation or under-estimation of co-ancestry proportions in individuals with admixed ancestry. The principal component analysis and STRUCTURE analysis of reference populations, test populations and the studied Mongolian group indicated that the novel assay was efficient enough to determine the ancestry origin of an unknown individual from the three continental populations. Besides, ancestry membership proportion estimations for the Mongolian group revealed that a large fraction of the ancestry was contributed by East Asian genetic component (approximately 83.9%), followed by European (approximately 12.6%) and African genetic components (approximately 3.5%), respectively. And next generation sequencing technology applied in this study offers possibility to incorporate more single nucleotide polymorphisms for individual identification and phenotype prediction into the same assay to provide as many as possible investigative clues in the future.
当传统的短串联重复序列分析无法提供有价值的信息来逮捕罪犯时，对犯罪现场留下的生物样本进行法医祖先推断可能会提供调查线索，并促进案件的调查过程。这就是为什么一直在努力开发法医科学中的祖先推断面板。本研究利用了一种基于 30 plex 下一代测序的检测方法，通过组装来自三个大陆人群（非洲、欧洲和东亚）的未知个体的高度分化的单核苷酸多态性，用于祖先分配。同时，保持相对平衡的群体特异性分化值，以避免在混合血统个体中对共同祖先比例的高估或低估。参考人群、测试人群和研究的蒙古人群的主成分分析和 STRUCTURE 分析表明，该新检测方法足以确定来自三个大陆人群的未知个体的祖先起源。此外，对蒙古人群的祖先归属比例估计表明，东亚遗传成分（约 83.9%）对该人群的祖先贡献最大，其次是欧洲（约 12.6%）和非洲遗传成分（约 3.5%）。本研究中应用的下一代测序技术为将更多的单核苷酸多态性纳入同一检测方法以用于个体识别和表型预测提供了可能性，从而为未来提供尽可能多的调查线索。
