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纳米比亚人群中 12 个 X-STR 标记的变异性和法医学效率。

Variability and forensic efficiency of 12 X-STR markers in Namibian populations.

机构信息

Reparto Carabinieri Investigazioni Scientifiche di Parma - Sezione Biologia, Parma, Italy.

Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.

出版信息

Int J Legal Med. 2024 Nov;138(6):2289-2298. doi: 10.1007/s00414-024-03299-9. Epub 2024 Aug 6.

Abstract

STR loci localized on the X chromosome provide information additional to the autosomal markers routinely analyzed in forensic genetics, integrating genetic systems as Y-STRs and mitochondrial DNA in the investigation of complex kinship scenarios and mass disaster cases.In this study we genotyped 12 X-STR loci in 251 male samples from four populations of Namibia in southern Africa using the Investigator Argus X-12 kit (Qiagen, Hilden, Germany). Forensic efficiency parameters indicated high power of discrimination in the considered populations. As part of our investigation, we highlighted partial linkage associations between loci within known linkage groups (LGs) and identified several occurrences of previously unreported out-of-ladder (OL) alleles.Genetic distances between the Namibian populations here investigated and other African (Eritrea, Ethiopia, Somalia, Guinea, Cape Verde) and non-African (Germany, China, Philippines) populations using loci grouped in LGs mirrored their biogeographical distribution differently for each linkage group. Haplotype sharing within each LG revealed a high degree of population-specific types, hinting to the potential of these markers for ancestry applications.These results highlight the importance to produce specific and freely available population databases especially for multi-ethnic countries. This novel dataset is expected to be of interest for population studies that need an accessible reference dataset of African regions not currently well represented, as well as possible relevance for forensic applications focusing on the biogeographic origin of samples.

摘要

X 染色体上的 STR 基因座提供了除常染色体标记物之外的信息,这些标记物通常用于法医遗传学分析,将 Y-STR 和线粒体 DNA 等遗传系统整合到复杂的亲属关系和大规模灾难案件的调查中。在这项研究中,我们使用 Investigator Argus X-12 试剂盒(Qiagen,德国 Hilden)对来自南部非洲纳米比亚的四个群体的 251 名男性样本进行了 12 个 X-STR 基因座的基因分型。法医效率参数表明,在所考虑的群体中,具有高的鉴别能力。作为我们调查的一部分,我们强调了已知连锁群(LG)内基因座之间的部分连锁关联,并确定了几个以前未报告的离梯(OL)等位基因的发生。用 LG 分组的基因座对纳米比亚群体和其他非洲(厄立特里亚、埃塞俄比亚、索马里、几内亚、佛得角)和非非洲(德国、中国、菲律宾)群体之间的遗传距离反映了它们在每个连锁群中的不同生物地理分布。每个 LG 内的单倍型共享显示出高度的种群特异性类型,暗示这些标记物可能适用于祖先应用。这些结果强调了为多民族国家生成特定且免费的群体数据库的重要性。这个新数据集有望成为非洲地区人群研究的关注点,因为这些地区目前的代表性不足,并且可能与关注样本生物地理起源的法医应用相关。

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