Lan Qiong, Zhao Congying, Wei Cong, Xu Hui, Shen Chunmei, Zhu Bofeng
Guangzhou Key Laboratory of Forensic Multi-Omics for Precision Identification, School of Forensic Medicine, Southern Medical University, 510515 Guangzhou, Guangdong, China.
Department of Ophthalmology, The Six Affiliated Hospital of Guangzhou Medical University, Qingyuan People's Hospital, 511500 Guangzhou, Guangdong, China.
Front Biosci (Landmark Ed). 2022 Feb 14;27(2):67. doi: 10.31083/j.fbl2702067.
InDel polymorphisms show great potential for use with challenging DNA samples in forensic practice due to having similar advantages to STRs and SNPs. Large-scale InDel genotype data are becoming available world wide populations, thus providing an alternative for investigating genetic architectures in rarely studied populations from a genome perspective.
Here, we genotyped 47 highly polymorphic InDel variations in 157 Mongolian and 100 Ewenki individuals from the Inner Mongolia Autonomous Region of China in order to evaluate their utility for forensic purposes.
The CDPs of the 47 InDels for these groups were calculated to be 0.999999999999999999874 and 0.999999999999999999677, respectively, while the CPEs were 0.99981 and 0.99975, respectively. The 47 InDel variations were therefore an efficient tool for forensic personal identification in the Mongolian and Ewenki ethnic groups. Comparison of results from the present study with datasets from previously published literatures and from the 1000 Genomes Project revealed a prominent East Asian ancestry component in the gene pool of both ethnic groups, hinting at the close genetic relationships between Mongolian, Ewenki and most East Asian populations. Furthermore, Han populations from northern China showed even closer genetic affinities with the Mongolian and Ewenki groups.
The data presented here would facilitate the forensic application of InDels for Mongolian and Ewenki ethnic minorities and expand our knowledge regarding the genetic diversities of these populations.
由于具有与短串联重复序列（STR）和单核苷酸多态性（SNP）相似的优势，插入缺失（InDel）多态性在法医学实践中处理具有挑战性的DNA样本方面显示出巨大潜力。全球范围内的大规模InDel基因型数据正变得可用，从而为从基因组角度研究较少研究人群的遗传结构提供了一种替代方法。
在此，我们对来自中国内蒙古自治区的157名蒙古族和100名鄂温克族个体的47个高度多态性InDel变异进行基因分型，以评估它们在法医学中的实用性。
计算得出这47个InDel在这些群体中的个体识别能力（CDP）分别为0.999999999999999999874和0.999999999999999999677，而累积个体识别率（CPE）分别为0.99981和0.99975。因此，这47个InDel变异是蒙古族和鄂温克族群体中进行法医学个体识别的有效工具。将本研究结果与先前发表文献以及千人基因组计划的数据进行比较，发现这两个群体的基因库中都有显著的东亚祖先成分，这暗示着蒙古族、鄂温克族与大多数东亚人群之间存在密切的遗传关系。此外，中国北方的汉族群体与蒙古族和鄂温克族群体的遗传亲缘关系更为密切。
本文所呈现的数据将促进InDel在蒙古族和鄂温克族少数民族法医学中的应用，并扩展我们对这些人群遗传多样性的认识。
