Department of Forensic Medicine, Inner Mongolia Medical University, Hohhot 010030, China.
Shanghai Key Laboratory of Forensic Medicine, Key Laboratory of Forensic Science, Ministry of Justice, Shanghai Forensic Service Platform, Academy of Forensic Science, Shanghai 200063, China.
Fa Yi Xue Za Zhi. 2022 Dec 25;38(6):733-738. doi: 10.12116/j.issn.1004-5619.2022.520801.
To investigate the genetic polymorphism of InDel loci in SifalnDel 45plex system in the Han population in Jiangsu Province and the Mongolian population in Inner Mongolia, and to evaluate the effectiveness of the system in forensic medicine.
SifaInDel 45plex system was used for genotyping in blood samples of 398 unrelated individuals from the above two populations, and allele frequencies and population genetic parameters of the two populations were calculated respectively. Eight intercontinental populations in the gnomAD database were used as reference populations. The genetic distances between the two studied populations and eight reference populations were calculated based on the allele frequencies of 27 autosomal-InDels (A-InDels). The phylogenetic trees and multidimensional scaling (MDS) analysis diagrams were constructed accordingly.
Among two studied populations, the 27 A-InDels and 16 X-InDels showed no linkage disequilibrium between each other and the allele frequency distributions were in Hardy-Weinberg equilibrium. The CDP of the 27 A-InDels in two studied populations were all higher than 0.999 999 999 9, and the CPE were all less than 0.999 9. The CDP of the 16 X-InDels in Han in Jiangsu and Mongolian in Inner Mongolia female and male samples were 0.999 997 962, 0.999 998 389, and 0.999 818 940, 0.999 856 063, respectively. The CMEC were all less than 0.999 9. The results of population genetics showed that the Jiangsu Han nationality, Inner Mongolia Mongolian nationality and East Asian population clustered into one branch, showing closer genetic relationship. The other 7 intercontinental populations clustered into another group. And the above 3 populations displayed distant genetic relationships with the other 7 intercontinental populations.
The InDels in the SifaInDel 45plex system have good genetic polymorphism in the two studied populations, which can be used for forensic individual identification or as an effective complement for paternity identification, and to distinguish different intercontinental populations.
研究江苏汉族人群和内蒙古蒙古族人群中 SifalnDel 45plex 系统插入缺失（InDel）位点的遗传多态性，并评估该系统在法医学中的应用效果。
使用 SifaInDel 45plex 系统对来自上述两个群体的 398 名无关个体的血样进行基因分型，分别计算两个群体的等位基因频率和群体遗传参数。以 gnomAD 数据库中的 8 个洲际群体作为参考群体，根据 27 个常染色体 InDels（A-InDels）的等位基因频率计算两个研究群体与 8 个参考群体之间的遗传距离。并据此构建系统进化树和多维尺度分析图。
在两个研究群体中，27 个 A-InDels 和 16 个 X-InDels 之间不存在连锁不平衡，等位基因频率分布均处于哈迪-温伯格平衡状态。27 个 A-InDels 在两个研究群体中的 CDP 均高于 0.999 999 999 9，CPE 均小于 0.999 9。江苏汉族和内蒙古蒙古族女性和男性样本中 16 个 X-InDels 的 CDP 分别为 0.999 997 962、0.999 998 389 和 0.999 818 940、0.999 856 063，CMEC 均小于 0.999 9。群体遗传学结果显示，江苏汉族、内蒙古蒙古族与东亚人群聚为一支，显示出较近的遗传关系。其他 7 个洲际群体聚为另一组，而上述 3 个群体与其他 7 个洲际群体显示出较远的遗传关系。
SifaInDel 45plex 系统中的 InDels 在两个研究群体中具有良好的遗传多态性，可用于法医个体识别或作为亲权鉴定的有效补充，并可用于区分不同的洲际群体。
