Costa Rita, Fadoni Jennifer, Amorim António, Cainé Laura
Faculty of Medicine, Porto University, 4200-319 Porto, Portugal.
National Institute of Legal Medicine and Forensic Sciences, I.P., North Branch, 4050-202 Porto, Portugal.
Genes (Basel). 2025 Aug 25;16(9):999. doi: 10.3390/genes16090999.
Y-chromosomal short tandem repeats (Y-STR) are genetic markers widely used in forensic and population genetics. However, despite their importance, many populations remain under-represented in published studies and genetic databases. One such population is the Cape Verdean, which, despite its unique history of admixture between European and sub-Saharan African populations, continues to be under-represented in global Y-STR reference databases. This study aims to characterize the Y-STR haplotype diversity and paternal lineage composition of the Cape Verdean population using a high-resolution STR panel. A total of 143 unrelated Cape Verdean men were analyzed using a set of 26 Y-STR loci, including rapidly mutating markers. Allele and haplotype frequencies were calculated, along with standard forensic parameters such as gene and haplotype diversity. Paternal lineages were inferred, and genetic relationships with other populations were evaluated using distance-based and graphical methods. A total of 135 haplotypes were detected, with 88.8% being unique, yielding a haplotype diversity of 0.999. The most common haplogroups reflected both West African and European ancestry. Genetic distance analysis positioned the Cape Verdean population between African and European groups, supporting its intermediate and admixed genetic background. This study provides the first high-resolution Y-STR dataset for Cape Verdeans, contributing valuable reference data for forensic casework and population genetic studies. The results highlight the utility of extended Y-STR panels in admixed populations and underscore the need to enhance the representation of admixed populations in international forensic reference databases.
Y染色体短串联重复序列(Y-STR)是广泛应用于法医学和群体遗传学的遗传标记。然而,尽管它们很重要,但在已发表的研究和遗传数据库中,许多群体的代表性仍然不足。佛得角人群就是其中之一,尽管其有着欧洲和撒哈拉以南非洲人群独特的混合历史,但在全球Y-STR参考数据库中的代表性仍然不足。本研究旨在使用高分辨率STR面板来描述佛得角人群的Y-STR单倍型多样性和父系谱系组成。使用一组26个Y-STR位点,包括快速突变标记,对总共143名无亲缘关系的佛得角男性进行了分析。计算了等位基因和单倍型频率,以及诸如基因和单倍型多样性等标准法医学参数。推断了父系谱系,并使用基于距离和图形的方法评估了与其他群体的遗传关系。共检测到135种单倍型,其中88.8%是独特的,单倍型多样性为0.999。最常见的单倍群反映了西非和欧洲的血统。遗传距离分析将佛得角人群定位在非洲和欧洲群体之间,支持了其混合的遗传背景。本研究为佛得角人提供了首个高分辨率Y-STR数据集,为法医学案件工作和群体遗传学研究贡献了有价值的参考数据。结果突出了扩展Y-STR面板在混合人群中的实用性,并强调了在国际法医参考数据库中增加混合人群代表性的必要性。