Unité de Génétique Forensique, Centre Universitaire Romand de Médecine Légale, Centre Hospitalier Universitaire Vaudois et Université de Lausanne, Lausanne, Switzerland.
Forensic Genetics Unit, Institute of Forensic Science, University of Santiago de Compostela, Santiago de Compostela, Spain.
Eur J Hum Genet. 2018 Nov;26(11):1697-1707. doi: 10.1038/s41431-018-0215-2. Epub 2018 Jul 11.
Bio-geographic ancestry is an area of considerable interest in the medical genetics, anthropology and forensics. Although genome-wide panels are ideal as they provide dense genotyping data, small sets of ancestry informative marker provide a cost-effective way to investigate genetic ancestry and population structure. Here, we investigate the performance of a reduced marker set that combine different types of autosomal markers through haplotype analysis. In particular, recently described DIP-STR markers should offer the advantage of comprising both, low mutation rate Indels (DIPs), to study human history over longer time scale; and high mutation rate STRs, to trace relatively recent demographic events. In this study, we assessed the ability of an initial set of 23 DIP-STRs to distinguish major population groups using the HGDP-CEPH reference samples. The results obtained applying the STRUCTURE algorithm show that the discrimination capacity of the DIP-STRs is comparable to currently used small-scale ancestry informative markers by approaching seven major demographic groups. Yet, the DIP-STRs show an improved success rate in assigning individuals to populations of Europe and Middle East. These data show a remarkable ability of a preliminary set of 23 DIP-STR markers to infer major biogeographic origins. A novel set of DIP-STRs preselected to contain ancestry information should lead to further improvements.
生物地理祖源是医学遗传学、人类学和法医学领域的一个重要研究领域。尽管全基因组面板是理想的，因为它们提供了密集的基因分型数据，但小的祖先信息标记集提供了一种经济有效的方法来研究遗传祖源和人口结构。在这里，我们通过单倍型分析研究了一个组合不同类型常染色体标记的减少标记集的性能。特别是，最近描述的 DIP-STR 标记应该具有优势，包括低突变率的插入缺失（DIPs），以研究人类历史的更长时间尺度；以及高突变率的 STRs，以追踪相对较近的人口事件。在这项研究中，我们使用 HGDP-CEPH 参考样本评估了一组最初的 23 个 DIP-STR 区分主要人群群体的能力。应用 STRUCTURE 算法得到的结果表明，DIP-STR 的区分能力可与目前使用的小规模祖先信息标记相媲美，接近七个主要的人口群体。然而，DIP-STR 在将个体分配到欧洲和中东人群时显示出更高的成功率。这些数据显示了一组初步的 23 个 DIP-STR 标记推断主要生物地理起源的显著能力。一组预先选择包含祖先信息的新的 DIP-STR 应该会进一步提高。
