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On-line Access: 2022-03-09

Received: 2021-06-11

Revision Accepted: 2021-12-10

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Citations:  Bibtex RefMan EndNote GB/T7714

 ORCID:

Yajun DENG

https://orcid.org/0000-0003-4938-9646

Bofeng ZHU

https://orcid.org/0000-0002-9038-2342

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Journal of Zhejiang University SCIENCE B

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Genetic diversity analysis of forty-three insertion/deletion loci for forensic individual identification in Han Chinese from Beijing based on a novel panel


Author(s):  Congying ZHAO, Jinlong YANG, Hui XU, Shuyan MEI, Yating FANG, Qiong LAN, Yajun DENG, Bofeng ZHU

Affiliation(s):  Guangzhou Key Laboratory of Forensic Multi-Omics for Precision Identification, School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China; more

Corresponding email(s):  zhubofeng7372@126.com, 18601285369@163.com

Key Words:  InDel; Human identification; Chinese Beijing Han; Population genetics


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Congying ZHAO, Jinlong YANG, Hui XU, Shuyan MEI, Yating FANG, Qiong LAN, Yajun DENG, Bofeng ZHU. Genetic diversity analysis of forty-three insertion/deletion loci for forensic individual identification in Han Chinese from Beijing based on a novel panel[J]. Journal of Zhejiang University Science B,in press.Frontiers of Information Technology & Electronic Engineering,in press.https://doi.org/10.1631/jzus.B2100507

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%A Congying ZHAO
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Abstract: 
Due to the virtues of no stutter peaks, low rates of mutation, and short amplicon sizes, insertion/deletion (InDel) polymorphism is an indispensable tool for analyzing degraded DNA samples from crime scenes for human identifications (Wang et al., 2021). Herein, a self-developed panel of 43 InDel loci constructed previously by our group was utilized to evaluate the genetic diversities and explore the genetic background of the Han Chinese from Beijing (HCB) including 301 random healthy individuals. The lengths of amplicons at 43 InDel loci in this panel ranged from 87 to 199 bp, which indicated that the panel could be used as an effective tool to utilize highly degraded DNA samples for human identity testing. The loci in this panel were validated and performed well for forensic degraded DNA samples (Jin et al., 2021). The combined discrimination power (PD) and combined probability of exclusion (PE) values in this panel indicated that the 43 InDel loci could be used as the candidate markers in personal identification and parentage testing of HCB. In addition, population genetic relationships between the HCB and 26 reference populations from five continents based on 19 overlapped InDel loci were displayed by constructing a phylogenetic tree, principal component analysis (PCA), and population genetic structure analysis. The results illustrated that the HCB had closer genetic relationships with the Han populations from Chinese different regions.

用于个体识别的43个InDel位点新体系在北京汉族群体中的遗传多态性分析

目的:评估新研发的43个InDel位点复合体系在北京汉族群体中的法医学应用效能,并探究北京汉族群体的遗传结构。
创新点:基于课题组自主研发的所有位点扩增子小于200 bp,适宜于降解检材分型的43个用于个体识别的InDel位点。研究为北京汉族群体的个体识别提供有效的分子遗传标记,丰富北京汉族群体的InDel遗传数据。
方法:采集301名来自北京地区无血缘关系的健康个体血样,通过毛细管电泳平台对这些样本的43个InDel位点进行复合扩增分型检测,计算43个InDel位点在北京汉族群体的等位基因频率及法医学参数。通过主成分分析、系统发育树构建和群体遗传结构分析,探索北京汉族群体与26个参考群体之间的遗传关系。
结论:43个InDel位点在北京汉族群体中具有较高的遗传多态性,其累积个体识别率和累积非父排除概率值分别为1−3.17×10−18和0.999869,表明该体系可用于北京汉族群体的个体识别。群体遗传学分析结果显示,北京汉族群体和来自中国不同地区的汉族群体之间遗传关系较近。

关键词组:插入/缺失多态性(InDel);北京汉族;个体识别

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Reference

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