Genetic polymorphism analysis and forensic application evaluation of 57 insertion/deletion polymorphisms from Yi ethnic group in Yunnan

As a new kind of diallelic genetic marker, insertion/deletion (InDel) polymorphisms have recently been used in forensic science. However, there are relatively few studies on the forensic evaluation of InDel genetic polymorphisms from different populations. The aim of the present work is to assess the genetic polymorphism and forensic applicability of 57 InDels from the Yi ethnic group and explore the genetic background of this group. A total sample of 122 unrelated individuals of Yi group from the Yunnan province were genotyped by the AGCU indel 60 Kit. Multiplex population genetic analyses on the same 57 InDels were carried out among the Yunnan Yi group and 29 reference populations. The average allele frequency of these loci in the Yi ethnic group was 0.485. Heterozygosity, polymorphism information content, and the power of discrimination were 0.477, 0.362, and 0.612, respectively. The combined power of discrimination and the combined power of exclusion reached to 0.99999999999999999669 and 0.999962965, respectively. The results showed that 57 InDels polymorphisms have high genetic polymorphisms in the Yi ethnic group. The 57 InDels could be used for forensic individual identification, paternity testing, and intercontinental population discrimination, with the potential for use in biogeographic ancestry inference.

插入缺失（insertion/deletion，InDel）多态性作为一种新型双等位基因遗传标记，近年来已被应用于法医学领域。然而，针对不同人群InDel遗传多态性的法医学评估研究相对较少。本研究共计采集云南省122名无亲缘关系彝族个体样本，采用AGCU indel 60试剂盒进行基因分型，旨在评估该族群57个InDel位点的遗传多态性与法医学应用价值，并解析其遗传背景。研究同时针对云南彝族群体与29个参考群体的上述57个InDel位点开展多重群体遗传分析。该彝族群体中，上述位点的平均等位基因频率为0.485；平均杂合度、多态信息含量及个体识别力分别为0.477、0.362与0.612。累计个体识别力与累计非父排除率分别达0.99999999999999999669与0.999962965。研究结果表明，57个InDel位点在彝族群体中具有较高的遗传多态性。上述57个InDel位点可应用于法医学个体识别、亲权鉴定及洲际人群区分，同时具备用于生物地理祖先推断的潜力。