Department of Legal Medicine, Toho University School of Medicine, Japan.
Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Japan.
Leg Med (Tokyo). 2021 Mar;49:101849. doi: 10.1016/j.legalmed.2021.101849. Epub 2021 Jan 14.
In some cases, it is necessary to estimate the national origin of an unknown subject in forensic medicine. The use of single nucleotide polymorphism (SNP) markers appears to be very effective for this purpose, since genome-wide SNP genotype data of many human populations are publicly available. In this study, we examined the number of SNPs that could objectively and accurately distinguish Japanese subjects (1KG-JPT) from the other East Asians (1KG-CDX, -CHB, -CHS, and -KHV) using the combination of principal component analysis and hierarchical cluster analysis. A computer simulation showed that approximately 3000 randomly selected SNPs were enough for the discrimination. Our results suggest that at least a 0.024% coverage is needed in the next generation sequencing experiment to objectively determine whether an unknown person is Japanese or not if the amount of DNA sample from him/her is insufficient or the quality is low.
在某些情况下,有必要在法医学中估计未知主体的国籍。使用单核苷酸多态性(SNP)标记似乎对此非常有效,因为许多人群的全基因组 SNP 基因型数据都可以公开获得。在这项研究中,我们使用主成分分析和层次聚类分析的组合,检查了可以客观准确地区分日本主体(1KG-JPT)与其他东亚人群(1KG-CDX、-CHB、-CHS 和 -KHV)的 SNP 数量。计算机模拟表明,大约 3000 个随机选择的 SNP 足以进行区分。我们的研究结果表明,如果从他/她身上获得的 DNA 样本量不足或质量较低,则在下一世代测序实验中需要至少 0.024%的覆盖率,以客观地确定未知人员是否为日本人。