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Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations

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Abstract

For the correct evaluation of the weight of genetic evidence in a forensic context, databases must reflect the structure of the population, with all possible groups being represented. Countries with a recent history of admixture between strongly differentiated populations are usually highly heterogeneous and sub-structured. Bolivia is one of these countries, with a high diversity of ethnic groups and different levels of admixture (among Native Americans, Europeans and Africans) across the territory. For a better characterization of the male lineages in Bolivia, 17 Y-STR and 42 Y-SNP loci were genotyped in samples from La Paz and Chuquisaca. Only European and Native American Y-haplogroups were detected, and no sub-Saharan African chromosomes were found. Significant differences were observed between the two samples, with a higher frequency of European lineages in Chuquisaca than in La Paz. A sample belonging to haplogroup Q1a3a1a1-M19 was detected in La Paz, in a haplotype background different from those previously found in Argentina. This result supports an old M19 North–south dispersion in South America, possibly via two routes. When comparing the ancestry of each individual assessed through his Y chromosome with the one estimated using autosomal AIMs, (a) increased European ancestry in individuals with European Y chromosomes and (b) higher Native American ancestry in the carriers of Native American Y-haplogroups were observed, revealing an association between autosomal and Y-chromosomal markers. The results of this study demonstrate that a sub-structure does exist in Bolivia at both inter- and intrapopulation levels, a fact which must be taken into account in the evaluation of forensic genetic evidence.

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Acknowledgments

IPATIMUP is an associate laboratory of the Portuguese Ministry of Science, Technology and Higher Education, and is partially supported by FCT, the Portuguese Foundation for Science and Technology. VG is supported by FCT through grant SFRH/BPD/76207/2011.

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Authors and Affiliations

  1. DNA Forensic Laboratory, Argentinean Forensic Anthropology Team (EAAF), Córdoba, Argentina

    Carlos Vullo & Carola Romanini

  2. IPATIMUP Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal

    Verónica Gomes, António Amorim & Leonor Gusmão

  3. DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil

    Andréa M. Oliveira, Juliana Aquino & Leonor Gusmão

  4. Laboratorio de Genética (LABOGEN SRL), Estado Plurinacional de Bolivia, La Paz, Bolivia

    Omar Rocabado

  5. FCUP - Faculty of Sciences of the University of Porto, Porto, Portugal

    António Amorim

  6. Laboratório de Diagnóstico por DNA, Pavilhão Haroldo Lisboa da Cunha, UERJ – Universidade do Estado do Rio de Janeiro, São Francisco Xavier, 524, Maracanã, 20550-900, Rio de Janeiro, RJ, Brazil

    Leonor Gusmão

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  1. Carlos Vullo
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  2. Verónica Gomes
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  3. Carola Romanini
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  6. Juliana Aquino
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Correspondence to Leonor Gusmão.

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Vullo, C., Gomes, V., Romanini, C. et al. Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations. Int J Legal Med 129, 673–680 (2015). https://doi.org/10.1007/s00414-014-1025-x

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