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May 29, 2026International Journal of Legal Medicine0 citationsOpen Access

A comprehensive analysis of Y-chromosomal diversity in Colombian populations

JRJulyana RibeiroZKZehra KöksalACAdriana Castillo

Key Points

  • This research aims to analyze Y-chromosomal diversity and investigate genetic admixture in Colombian populations.
  • Analyzed 23 Y-STRs in 975 males from five regions: Andes, Pacific, Caribbean, Orinoquía, and Amazon.
  • A subset of 175 individuals was genotyped for 859 Y-SNPs via massively parallel sequencing.
  • Genetic distance analyses (F ST and R ST) were performed to assess regional differentiation.
  • High haplotypic diversity observed for 23 Y-STRs (0.9998).
  • Caribbean and Orinoquía regions show predominant European ancestry (79% and 87.9%), while Pacific leans towards African ancestry.
  • Amazon regions cluster closely with Peru and Ecuador, reflecting high Native American ancestry.

Abstract

Abstract An intense gene flow between Native, European, and African groups, since the colonial period, has led to complex admixture patterns throughout Colombia. To investigate this genetic structure, we analyzed 23 Y-STRs in 975 males from five major regions of the country: Andes, Pacific, Caribbean, Orinoquía, and Amazon. To explore the paternal lineages and to reconstruct the underlying historical and demographic processes, a subset of 175 individuals was genotyped for 859 Y-SNPs using massively parallel sequencing. A high haplotypic diversity was found for the 23 Y-STRs (0.9998), compared to other Latin American populations studied. Pairwise genetic distance analyses ( F ST and R ST ) showed a clearer differentiation among Colombian regions, when increasing the number of Y-STRs from 17 to 23. In population comparisons, Caribbean and Orinoquía regions clustered closer to European and Admixed populations, while the Pacific region moves towards African populations. The Amazon clustered with Peru and Ecuador that have high Native American ancestry. The predominant paternal ancestry in the Caribbean and Andes was European (79% and 87.9%, respectively), with macrohaplogroup R being the most frequent (39% and 64%, respectively). In the Caribbean region, sub-Saharan African lineages are the second most prevalent (16%), while in the Andean region the Native American lineages are the second most represented (7.6%), followed by a smaller proportion of sub-Saharan African lineages (4.5%). The results attest to the extensive regional genetic diversity within the country. The Y-STRs showed good intra and inter-population discrimination capabilities and support the establishment of specific regional databases for forensic purposes.

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Cite This Study

Ribeiro et al. (2026) studied this question.

synapsesocial.com/papers/6a192d7efab5b468c4416538https://doi.org/10.1007/s00414-026-03848-4
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