Suppr超能文献

基于自主研发的多重DIP面板对云南三个群体进行个体识别、亲缘关系检测和祖先推断的法医效率

Forensic efficiencies of individual identification, kinship testing and ancestral inference in three Yunnan groups based on a self-developed multiple DIP panel.

作者信息

Chen Man, Lan Qiong, Nie Shengjie, Hu Liping, Fang Yating, Cui Wei, Bai Xiaole, Liu Liu, Zhu Bofeng

机构信息

Guangzhou Key Laboratory of Forensic Multi-Omics for Precision Identification, School of Forensic Medicine, Southern Medical University, Guangzhou, China.

Microbiome Medicine Center, Department of Laboratory Medicine, Zhujiang Hospital, Southern Medical University, Guangzhou, China.

出版信息

Front Genet. 2023 Jan 4;13:1057231. doi: 10.3389/fgene.2022.1057231. eCollection 2022.

Abstract

Deletion/insertion polymorphism (DIP), as a short insertion/deletion sequence polymorphic genetic marker, has attracted the attention of forensic genetic scientist due to its lack of stutter, short amplicon and abundant ancestral information. In this study, based on a self-developed 43 autosomal deletion/insertion polymorphism (A-DIP) loci panel which could meet the forensic application purposes of individual identification, kinship testing and ancestral inference to some extent, we evaluated the forensic efficiencies of the above three forensic objectives in Chinese Yi, Hani and Miao groups of Yunnan province. The cumulative match probability (CPM) and combined probability of exclusion (CPE) of these three groups were 1.11433E-18, 8.24299E-19, 4.21721E-18; 0.999610217, 0.999629285 and 0.999582084, respectively. Average 96.65% full sibling pairs could be identified from unrelated individual pairs (as likelihood ratios > 1) using this DIP panel, whereas the average false positive rate was 3.69% in three target Yunnan groups. With the biogeographical ancestor prediction models constructed by extreme gradient boosting (XGBoost) and support vector machine (SVM) algorithms, 0.8239 (95% CI 0.7984, 0.8474) of the unrelated individuals could be correctly divided according to the continental origins based on the 43 A-DIPs which were large frequency distribution differentiations among different continental populations. The present results of principal component analysis (PCA), multidimensional scaling (MDS), neighbor joining (NJ) and maximum likelihood (ML) phylogenetic trees and STRUCTURE analyses indicated that these three Yunnan groups had relatively close genetic distances with East Asian populations.

摘要

缺失/插入多态性(DIP)作为一种短插入/缺失序列多态性遗传标记,因其无拖尾现象、扩增子短且具有丰富的祖先信息,已引起法医遗传学科学家的关注。在本研究中,基于自行开发的43个常染色体缺失/插入多态性(A-DIP)位点面板,该面板在一定程度上可满足个体识别、亲缘关系检测和祖先推断的法医应用目的,我们评估了上述三个法医目标在云南省彝族、哈尼族和苗族群体中的法医效能。这三个群体的累积匹配概率(CPM)和联合排除概率(CPE)分别为1.11433E-18、8.24299E-19、4.21721E-18;0.999610217、0.999629285和0.999582084。使用该DIP面板,平均96.65%的全同胞对可从不相关个体对中识别出来(似然比>1),而在三个目标云南群体中平均假阳性率为3.69%。利用通过极端梯度提升(XGBoost)和支持向量机(SVM)算法构建的生物地理祖先预测模型,基于43个A-DIPs(不同大陆群体间存在较大频率分布差异),0.8239(95%可信区间0.7984,0.8474)的不相关个体可根据大陆起源被正确划分。主成分分析(PCA)、多维尺度分析(MDS)、邻接法(NJ)和最大似然(ML)系统发育树以及STRUCTURE分析的当前结果表明,这三个云南群体与东亚人群的遗传距离相对较近。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5bd/9845582/287baad1cb6f/fgene-13-1057231-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验