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卢旺达人群中 24 个常染色体 STR 的遗传多态性。

Genetic Polymorphism of 24 Autosomal STR in the Population of Rwanda.

机构信息

College of Medicine & Forensic, Health Science Center, Xi'an Jiao Tong University, 76 Yan Ta West Road, Xi'an, 710061, Shaanxi, People's Republic of China.

Shenzhen Key Laboratory of Forensics, BGI-Shenzhen, Shenzhen, 518083, People's Republic of China.

出版信息

Biochem Genet. 2022 Feb;60(1):80-93. doi: 10.1007/s10528-021-10067-6. Epub 2021 Jun 7.

DOI:10.1007/s10528-021-10067-6
PMID:34100175
Abstract

Rwanda is one of the smallest countries of Africa, where forensic genetic studies are rarely being conducted and very few DNA databases have been developed. Short tandem repeats (STRs) polymorphisms were investigated in 505 unrelated Rwandese by using the HUMDNA TYPING (Yanhuang) Kit. The following STRs were targeted: D3S1358, D13S317, D7S820, D16S539, SE33, D10S1248, D5S818, D21S11, TPOX, D1S1656, D6S1043, D19S433, D22S1045, D8S1179, Penta E, D2S441, D12S391, D2S1338, vWA, Penta D, TH01, D18S51, CSF1PO and FGA. The purpose of this study was to elucidate the genetic diversity and explore the potential of applying these 24 STR in 505 Rwandan population in forensics. A total of 360 alleles, with corresponding allele frequencies in the range from 0.001 to 0.442, were found in the Rwandan population. SE33 presented the highest polymorphism (PIC=0.921) among these 24 loci, whereas D13S317 presented the lowest one (PIC=0.671). No deviation from the Hardy-Weinberg equilibrium was observed for any of the 24 loci. The forensic parameters, including the combined power of discrimination (PD and the combined exclusion power, have demonstrated that this panel of 24 STRs is highly informative and useful for forensic applications such as individuals' identification and paternity tests. Additionally, the genetic distances between Rwanda population and other 24 published populations were calculated based on 8 overlapping loci with the polygenetic tree revealing significant clusters in the populations associated with their geographic locations and their historical relationship.

摘要

卢旺达是非洲最小的国家之一,那里很少进行法医遗传学研究,也很少开发 DNA 数据库。本研究使用 HUMDNA TYPING(炎黄)试剂盒对 505 名无亲缘关系的卢旺达人进行了短串联重复序列(STR)多态性研究。本研究检测了以下 STR 基因座:D3S1358、D13S317、D7S820、D16S539、SE33、D10S1248、D5S818、D21S11、TPOX、D1S1656、D6S1043、D19S433、D22S1045、D8S1179、Penta E、D2S441、D12S391、D2S1338、vWA、Penta D、TH01、D18S51、CSF1PO 和 FGA。本研究旨在阐明卢旺达人群的遗传多样性,并探讨在法医学中应用这 24 个 STR 的潜力。在卢旺达人群中发现了 360 个等位基因,相应的等位基因频率在 0.001 至 0.442 之间。在这 24 个基因座中,SE33 的多态性最高(PIC=0.921),而 D13S317 的多态性最低(PIC=0.671)。在这 24 个基因座中,没有一个偏离 Hardy-Weinberg 平衡。本研究中,24 个 STR 基因座的个体识别力(PD)和排除率(PE)等法医学参数均表现出较高的信息性和实用性,可用于个体识别和亲子鉴定等法医学应用。此外,基于 8 个重叠基因座,计算了卢旺达人群与其他 24 个人群的遗传距离,并构建了多基因树,该树显示了与地理位置和历史关系相关的人群中的显著聚类。

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本文引用的文献

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Short tandem repeat technology has diverse applications: individual identification, phylogenetic reconstruction and chimerism based post haematopoietic stem cell transplantation graft monitoring.短串联重复序列技术有多种应用:个体识别、系统发育重建以及基于嵌合体的造血干细胞移植后移植物监测。
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Evaluation of 13 short tandem repeat loci for use in personal identification applications.用于个人识别应用的13个短串联重复序列位点的评估。
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