Department of Forensic Medicine, Guizhou Medical University, Guiyang, 550004, Guizhou, China.
Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, 610041, China.
Mol Genet Genomics. 2019 Dec;294(6):1487-1498. doi: 10.1007/s00438-019-01591-7. Epub 2019 Jul 16.
Insertion/deletion (Indel) genetic markers have special features compared to other forensic-related markers, such as the low mutation rate and di-allelic markers with length polymorphism, playing an indispensable role in the forensic and population genetics, molecular anthropology and evolutionary biology. However, the genetic diversity, allelic frequency, forensic parameters and population genetic characteristics of the Indel markers in Hmong-Mien-speaking Guizhou Miao people are unclear due to the sparse sampling. Thus, we genotyped 30 forensic-related Indel markers in 311 unrelated healthy Miao individuals (149 females and 161 males) residing in the Guizhou Province in Southwest China using the Investigator DIPplex amplification system. All 30 Indels are in accordance with the no departures of Hardy-Weinberg equilibrium and linkage disequilibrium. The combined probability of discrimination and the probability of exclusion in Guizhou Miao population are 0.999999999948 and 0.9843, respectively. This observed ideal forensic parameter estimates indicate that this di-allelic Indel panel can be used as a supplementary tool in forensic retinue personal identification and complemented for autosomal STRs in the parentage testing in Miao population, especially used as the main tool in old or highly degraded samples in disaster victim identification. Eleven Indels show a high allele frequency difference between different continental populations and could be used as ancestry-informative markers in forensic ancestry inference. Phylogenetic relationships between Guizhou Miao and 68 worldwide populations based on the genetic polymorphisms of Indels are investigated via three different pairwise genetic distances, principal component analysis, multidimensional scaling analysis and phylogenetic relationship reconstructions. Analyses of the comprehensive population genetic relationship comparison reveal significant genetic differentiation of Chinese groups. Our results demonstrate that Guizhou Miao people are genetically closer related to the geographically adjacent populations, especially with Liangshan Yi, Guangxi Miao and Dong, but genetically distinct with Turkic-speaking populations. Comprehensive and precise genetic admixture and divergence history of Guizhou Miao and neighboring populations are needed to further investigate and reconstruct via high-density marker panel or whole-genome sequencing of modern or ancient Miao samples.
插入/缺失（Indel）遗传标记与其他法医相关标记相比具有特殊的特征，例如低突变率和具有长度多态性的二等位标记，在法医学和群体遗传学、分子人类学和进化生物学中发挥着不可或缺的作用。然而，由于采样稀疏，贵州苗语族群中的 Indel 标记的遗传多样性、等位基因频率、法医参数和群体遗传特征尚不清楚。因此，我们使用 Investigator DIPplex 扩增系统对居住在中国西南部贵州省的 311 名无关健康苗族个体（149 名女性和 161 名男性）进行了 30 个法医相关 Indel 标记的基因分型。所有 30 个 Indels 均符合 Hardy-Weinberg 平衡和连锁不平衡的无偏离。贵州苗族人群的联合判别概率和排除概率分别为 0.999999999948 和 0.9843。观察到的理想法医参数估计表明，这个二等位 Indel 面板可以作为法医随从个人识别的补充工具，并补充常染色体 STR 在苗族人群中的亲子关系测试，特别是在灾难受害者识别中作为旧样本或高度降解样本的主要工具。11 个 Indels 显示出不同大陆人群之间的高等位基因频率差异，可作为法医祖先推断中的祖先信息标记。通过三种不同的成对遗传距离、主成分分析、多维尺度分析和系统发育关系重建，研究了基于 Indel 遗传多态性的贵州苗族与 68 个全球人群之间的系统发育关系。基于综合人群遗传关系比较的分析表明，中国人群存在显著的遗传分化。我们的研究结果表明，贵州苗族在遗传上与地理上相邻的人群更为密切相关，特别是与凉山彝族、广西苗族和侗族，但与突厥语人群在遗传上存在明显差异。需要通过高密度标记面板或现代或古代苗族样本的全基因组测序进一步研究和重建贵州苗族和邻近人群的综合和精确的遗传混合和分化历史。
