Forensic DNA Laboratory, Dept. Biotechnology, Faculty of Natural Sciences, University of the Western Cape, 7535 Bellville, South Africa.
Forensic DNA Laboratory, Dept. Biotechnology, Faculty of Natural Sciences, University of the Western Cape, 7535 Bellville, South Africa; South African Police Service Forensic Science Laboratory, Biology Unit, 8000 Panorama, South Africa.
Forensic Sci Int Genet. 2022 May;58:102677. doi: 10.1016/j.fsigen.2022.102677. Epub 2022 Feb 11.
The profiles of 2188 SA males obtained with 10 Y-STR highly informative markers were analyzed for their information content for forensic and population studies. The samples comprised a total of 16 populations, represented by Bantu-speaking groups, KhoeSan descendants, out-of-Africa descendants and admixed groups. The country hosts approximately 58 million inhabitants, 80% native and the remaining with ancestry external to Africa and admixed. The forensic parameters indicated high levels of diversity in all populations and lower in the Nguni, who showed elevated number of repeated haplotypes, thus displaying the lowest DC values. Population comparative analysis with MDS showed concordant results with the historical record. Non-hierarchical and hierarchical AMOVA over ethnolinguistic groups and administrative divisions showed significant variation in all cases, with higher differences due to ethnicity than to geopolitical subdivision. The haplotypes were further analyzed by hierarchical kmeans clustering. The identified clusters differed in their relative contribution to the gene pool of the 16 analyzed populations. Geostatistical analysis of the clusters evidenced areas of higher density for some clusters in correspondence with language, while other clusters were more homogeneously distributed. In addition, a few rare microvariants were identified with very restricted geographic occurrence. The results emphasize the forensic value of a highly informative set of markers in a country with high genetic diversity and complex population history.
利用 10 个 Y-STR 高度多态性标记对 2188 名南非男性个体进行了分析，以评估其在法医和群体遗传学研究中的信息含量。这些样本共来自 16 个群体，包括班图语族群、科伊桑人后裔、非洲以外的移民后裔以及混合群体。南非拥有约 5800 万居民，其中 80%为本地人口，其余人口的祖先来自非洲以外地区并与本地人发生了混合。法医参数表明，所有群体的多样性水平都很高，但在 Nguni 群体中较低，该群体表现出较高数量的重复单倍型，从而显示出最低的 DC 值。与历史记录一致，通过 MDS 进行的群体比较分析也得到了一致的结果。非层次和层次 AMOVA 分析基于民族语言和行政区域，在所有情况下都显示出显著的差异，由于民族因素导致的差异高于由于地缘政治细分导致的差异。进一步对单倍型进行了层次聚类分析。所确定的聚类在其对 16 个分析群体基因库的相对贡献方面存在差异。聚类的地统计学分析表明，在某些与语言对应的区域，一些聚类的密度较高，而其他聚类的分布则较为均匀。此外，还确定了一些罕见的微变体，它们的地理分布非常有限。这些结果强调了在一个具有高度遗传多样性和复杂群体历史的国家中，使用高度多态性标记组进行法医鉴定的重要价值。
