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利用 35 个插入/缺失多态性位点深入了解中国两个藏族群体的遗传特征和群体结构。

Insights into the genetic characteristics and population structures of Chinese two Tibetan groups using 35 insertion/deletion polymorphic loci.

机构信息

Multi‑Omics Innovative Research Center of Forensic Identification; Department of Forensic Genetics, School of Forensic Medicine, Southern Medical University, Guangzhou, 510515, China.

Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, 710004, China.

出版信息

Mol Genet Genomics. 2020 Jul;295(4):957-968. doi: 10.1007/s00438-020-01670-0. Epub 2020 Apr 24.

Abstract

Studying the genetic structure of each ethnic group is helpful to clarify the genetic background and trace back to the ethnic origin. Tibetan people have lived in the Qinghai-Tibet Plateau (mean elevation over 4500 m) for generations, and have well adapted to the high-altitude environment. Due to the relatively closed geographical environment, Tibetans have preserved their representative physical characteristics and genetic information, thereby become an important research group in human genetics. In this study, genetic characteristics and population structures of two Tibetan groups (Qinghai Tibetans and Tibet Tibetans) were revealed by 35 insertion/deletion polymorphism (DIP) loci, aiming to provide valuable genetic information for population genetic differentiation analyses and forensic identifications. The combined discrimination power, cumulative exclusion probability and combined match probability of the 35 DIP loci in Qinghai Tibetan and Tibet Tibetan groups were 0.9999999999999945, 0.9988, 5.56623 × 10; and 0.9999999999999904, 0.9990, 9.69071 × 10, respectively, indicating that the panel possessed a strong capability for Tibetan personal identifications. Population differentiations and genetic relationship analyses among the two studied Tibetan groups and other 27 comparison populations were carried out using the Nei's D genetic distances, population pairwise genetic distances F-statistics (F), analysis of molecular variance (AMOVA), phylogenetic tree reconstruction, principal component analysis and STRUCTURE methods. Results demonstrated that the most intimate genetic relationships existed in these two Tibetan groups; and genetic similarities between two Tibetan groups and the populations from East Asia were much stronger than that between the Tibetan groups and other geographical populations. Furthermore, forensic ancestral informativeness assessments suggested that several loci could be regarded as ancestry informative markers inferring individual biogeographic origins as well as contributing to forensic anthropology and population genetic researches.

摘要

研究每个族群的遗传结构有助于阐明遗传背景并追溯到族群起源。藏人世代居住在青藏高原(平均海拔超过 4500 米),已很好地适应了高海拔环境。由于相对封闭的地理环境,藏人保留了他们具有代表性的身体特征和遗传信息,因此成为人类遗传学研究的重要群体。在这项研究中,通过 35 个插入/缺失多态性(DIP)位点揭示了两个藏族群体(青海藏族人和西藏藏族人)的遗传特征和群体结构,旨在为群体遗传分化分析和法医鉴定提供有价值的遗传信息。35 个 DIP 位点在青海藏族人和西藏藏族人群中的联合判别能力、累积排除概率和联合匹配概率分别为 0.9999999999999945、0.9988、5.56623×10-8;0.9999999999999904、0.9990、9.69071×10-8,表明该面板具有很强的藏族个人识别能力。利用 Nei 的 D 遗传距离、种群间遗传距离 F 统计量(F)、分子方差分析(AMOVA)、系统发育树重建、主成分分析和 STRUCTURE 方法对两个研究藏族群体与其他 27 个比较群体之间的种群分化和遗传关系进行了分析。结果表明,这两个藏族群体之间存在最密切的遗传关系;两个藏族群体与东亚人口之间的遗传相似性强于藏族群体与其他地理群体之间的遗传相似性。此外,法医学祖先信息评估表明,一些位点可以作为推断个体生物地理起源的遗传信息标记,为法医人类学和群体遗传学研究做出贡献。

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