Institute of Forensic Medicine, West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, China.
Department of Pathology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China.
Mol Genet Genomic Med. 2020 May;8(5):e1224. doi: 10.1002/mgg3.1224. Epub 2020 Mar 10.
Insertion/deletion (InDel) analysis plays an indispensable role in human identification, population genetics, and biogeographic research. Profiles of individuals in forensic applications worldwide based on a set of autosomal InDel loci (A-InDels) in human genomes have been widely used over the past few years.
The new AGCU InDel 50 Kit contains 47 well-chosen A-InDels, ensuring high discriminatory power, and the 2 Y chromosome InDel loci (Y-InDels) are used for sex determination in case of allele dropout at Amelogenin. In this study, five Northern Han populations residing in different geographic areas of China were recruited and genotyped using the assay.
After Bonferroni correction, all 47 A-InDels were in accordance with the lack of significant departures of Hardy-Weinberg equilibrium in all loci and investigated groups. The combined probability of discrimination and the probability of exclusion in the Han population range from 1-3.2240 × 10 to 1-1.3030 × 10 and 0.9997, respectively. A comprehensive population genetic relationship investigation between Han Chinese and 26 worldwide populations based on allele frequency correlation was carried out. Our results revealed no significant genetic differentiation in Chinese Han groups. Hierarchical clustering, phylogenetic relationship reconstructions, multidimensional scaling, principal component analysis, and structure analysis were performed, and the results indicated that, genetically, Han populations are closely related to East Asians.
Overall, this novel 47 A-InDel assay is a valuable tool that could potentially be used for forensic identification and parentage tests.
插入/缺失（InDel）分析在人类识别、群体遗传学和生物地理研究中起着不可或缺的作用。近年来，世界各地法医应用中基于人类基因组中一组常染色体 InDel 位点（A-InDels）的个体谱已被广泛使用。
新的 AGCU InDel 50 试剂盒包含 47 个精心挑选的 A-InDels，确保了高的鉴别力，并且 2 个 Y 染色体 InDel 位点（Y-InDels）在 Amelogenin 等位基因缺失时用于性别确定。在这项研究中，选择了居住在中国不同地理区域的五个北方汉族群体，并使用该检测进行基因分型。
经过 Bonferroni 校正，所有 47 个 A-InDels 均符合所有位点和调查群体 Hardy-Weinberg 平衡无显著偏离的要求。汉族人群的联合鉴别概率和排除概率范围分别为 1-3.2240×10 到 1-1.3030×10 和 0.9997。基于等位基因频率相关性，对汉族人群与 26 个世界范围内人群进行了综合的群体遗传关系调查。结果显示，中国汉族群体之间没有显著的遗传分化。进行了层次聚类、系统发育关系重建、多维尺度分析、主成分分析和结构分析，结果表明，从遗传上看，汉族人群与东亚人群密切相关。
总的来说，这种新的 47 个 A-InDel 检测是一种有价值的工具，可能可用于法医鉴定和亲子关系测试。
