纳米比亚人口中 12 个 X-STR 标记的变异性和法医学效率。

IF 2.2 3区 医学 Q1 MEDICINE, LEGAL International Journal of Legal Medicine Pub Date : 2024-08-06 DOI:10.1007/s00414-024-03299-9
Luca Calò, Fabiano Gentile, Elisa Baio, Caterina Raschellà, Cristian Capelli, Alberto Marino
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引用次数: 0

摘要

在本研究中,我们使用 Investigator Argus X-12 套件(Qiagen,Hilden,Germany)对来自南部非洲纳米比亚四个人群的 251 份男性样本中的 12 个 X-STR 位点进行了基因分型。法医效率参数表明,在所考虑的人群中,鉴别力很高。作为调查的一部分,我们强调了已知连接组(LGs)内各位点之间的部分连接关系,并发现了几种以前未报道过的阶梯外(OL)等位基因。所调查的纳米比亚种群与其他非洲(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)种群之间的遗传距离(使用LGs分组的位点)反映了每个连接组不同的生物地理分布。每个 LG 内的单倍型共享揭示了高度的人口特异性类型,暗示了这些标记在祖先应用方面的潜力。这些结果突显了建立特定的、免费提供的人口数据库的重要性,特别是对于多民族国家。这一新颖的数据集预计将对人口研究产生兴趣,因为人口研究需要一个可访问的参考数据集,而非洲地区目前还没有很好的代表性,该数据集还可能与侧重于样本生物地理起源的法医应用相关。
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Variability and forensic efficiency of 12 X-STR markers in Namibian populations.

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.

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来源期刊
CiteScore
5.80
自引率
9.50%
发文量
165
审稿时长
1 months
期刊介绍: The International Journal of Legal Medicine aims to improve the scientific resources used in the elucidation of crime and related forensic applications at a high level of evidential proof. The journal offers review articles tracing development in specific areas, with up-to-date analysis; original articles discussing significant recent research results; case reports describing interesting and exceptional examples; population data; letters to the editors; and technical notes, which appear in a section originally created for rapid publication of data in the dynamic field of DNA analysis.
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