Population genetic analyses of Eastern Chinese Han nationality using ForenSeq™ DNA Signature Prep Kit.

IF 2.3 3区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Ruiyang Tao, Xinyu Dong, Xiaoyuan Zhen, Ruocheng Xia, Yiling Qu, Shiquan Liu, Suhua Zhang, Chengtao Li
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引用次数: 0

Abstract

Currently, the most commonly used method for human identification and kinship analysis in forensic genetics is the detection of length polymorphism in short tandem repeats (STRs) using polymerase chain reaction (PCR) and capillary electrophoresis (CE). However, numerous studies have shown that considerable sequence variations exist in the repeat and flanking regions of the STR loci, which cannot be identified by CE detection. Comparatively, massively parallel sequencing (MPS) technology can capture these sequence differences, thereby enhancing the identification capability of certain STRs. In this study, we used the ForenSeq™ DNA Signature Prep Kit to sequence 58 STRs and 94 individual identification SNPs (iiSNPs) in a sample of 220 unrelated individuals from the Eastern Chinese Han population. Our aim is to obtain MPS-based STR and SNP data, providing further evidence for the study of population genetics and forensic applications. The results showed that the MPS method, utilizing sequence information, identified a total of 486 alleles on autosomal STRs (A-STRs), 97 alleles on X-chromosome STRs (X-STRs), and 218 alleles on Y-chromosome STRs (Y-STRs). Compared with length polymorphism, we observed an increase of 260 alleles (157, 31, and 72 alleles on A-STRs, X-STRs, and Y-STRs, respectively) across 36 STRs. The most substantial increments were observed in DYF387S1 and DYS389II, with increases of 287.5% and 250%, respectively. The most increment in the number of alleles was found at DYF387S1 and DYS389II (287.5% and 250%, respectively). The length-based (LB) and sequence-based (SB) combined random match probability (RMP) of 27 A-STRs were 6.05E-31 and 1.53E-34, respectively. Furthermore, other forensic parameters such as total discrimination power (TDP), cumulative probability of exclusion of trios (CPEtrio), and duos (CPEduo) were significantly improved when using the SB data, and informative data were obtained for the 94 iiSNPs. Collectively, these findings highlight the advantages of MPS technology in forensic genetics, and the Eastern Chinese Han genetic data generated in this study could be used as a valuable reference for future research in this field.

使用 ForenSeq™ DNA Signature Prep Kit 对中国东部汉族进行人口基因分析。
目前,法医遗传学中最常用的人类身份鉴定和亲属关系分析方法是利用聚合酶链式反应(PCR)和毛细管电泳(CE)检测短串联重复序列(STR)的长度多态性。然而,大量研究表明,在 STR 基因座的重复区和侧翼区存在着相当大的序列变异,而这些变异无法通过 CE 检测来识别。相对而言,大规模平行测序(MPS)技术可以捕捉到这些序列差异,从而提高某些 STR 的鉴定能力。在本研究中,我们使用 ForenSeq™ DNA Signature Prep Kit 对来自中国东部汉族人群的 220 个无亲缘关系个体样本中的 58 个 STR 和 94 个个体识别 SNPs(iiSNPs)进行了测序。我们的目的是获得基于 MPS 的 STR 和 SNP 数据,为群体遗传学研究和法医应用提供进一步的证据。结果表明,MPS方法利用序列信息在常染色体STR(A-STR)上共鉴定出486个等位基因,在X染色体STR(X-STR)上鉴定出97个等位基因,在Y染色体STR(Y-STR)上鉴定出218个等位基因。与长度多态性相比,我们在 36 条 STR 中观察到增加了 260 个等位基因(A-STR、X-STR 和 Y-STR 上分别有 157、31 和 72 个等位基因)。在 DYF387S1 和 DYS389II 中观察到的增幅最大,分别为 287.5% 和 250%。等位基因数量增加最多的是 DYF387S1 和 DYS389II(分别为 287.5%和 250%)。27 个 A-STR 的基于长度(LB)和基于序列(SB)的综合随机匹配概率(RMP)分别为 6.05E-31 和 1.53E-34。此外,在使用 SB 数据时,总鉴别力(TDP)、排除三体(CPEtrio)和二体(CPEduo)的累积概率等其他鉴别参数也得到了显著改善,并获得了 94 个 iiSNPs 的信息数据。总之,这些发现凸显了 MPS 技术在法医遗传学中的优势,本研究中生成的中国东部汉族遗传数据可作为该领域未来研究的宝贵参考。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Molecular Genetics and Genomics
Molecular Genetics and Genomics 生物-生化与分子生物学
CiteScore
5.10
自引率
3.20%
发文量
134
审稿时长
1 months
期刊介绍: Molecular Genetics and Genomics (MGG) publishes peer-reviewed articles covering all areas of genetics and genomics. Any approach to the study of genes and genomes is considered, be it experimental, theoretical or synthetic. MGG publishes research on all organisms that is of broad interest to those working in the fields of genetics, genomics, biology, medicine and biotechnology. The journal investigates a broad range of topics, including these from recent issues: mechanisms for extending longevity in a variety of organisms; screening of yeast metal homeostasis genes involved in mitochondrial functions; molecular mapping of cultivar-specific avirulence genes in the rice blast fungus and more.
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