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Ancestry resolution of South Brazilians by forensic 165 ancestry-informative SNPs panel

  • Aline Brugnera Felkl
    Correspondence
    Correspondence to: Laboratório de Genética Forense, Escola de Ciências da Saúde e da Vida, Pontifícia Universidade Católica do Rio Grande do Sul, Av. Ipiranga, 6681, Prédio 12C, Sala 233, Porto Alegre, RS 90619-900, Brazil.
    Affiliations
    Forensic Genetics Laboratory, School of Health and Life Sciences, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil

    National Institute of Science and Technology – Forensic Science, Porto Alegre, RS, Brazil
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  • Eduardo Avila
    Affiliations
    Forensic Genetics Laboratory, School of Health and Life Sciences, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil

    Technical Scientific Section, Federal Police Department in Rio Grande do Sul State, Porto Alegre, RS, Brazil

    National Institute of Science and Technology – Forensic Science, Porto Alegre, RS, Brazil
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  • André Zoratto Gastaldo
    Affiliations
    Forensic Genetics Laboratory, School of Health and Life Sciences, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil

    National Institute of Science and Technology – Forensic Science, Porto Alegre, RS, Brazil
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  • Catieli Gobetti Lindholz
    Affiliations
    Forensic Genetics Laboratory, School of Health and Life Sciences, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil
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  • Márcio Dorn
    Affiliations
    Forensic Genetics Laboratory, School of Health and Life Sciences, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil

    National Institute of Science and Technology – Forensic Science, Porto Alegre, RS, Brazil

    Institute of Informatics, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil
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  • Clarice Sampaio Alho
    Affiliations
    Forensic Genetics Laboratory, School of Health and Life Sciences, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil

    National Institute of Science and Technology – Forensic Science, Porto Alegre, RS, Brazil
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Published:January 23, 2023DOI:https://doi.org/10.1016/j.fsigen.2023.102838

      Highlights

      • 250 samples from four South Brazilian population groups were typed for 165 AISNPs.
      • All loci were in HW equilibrium, with association between seven loci pairs.
      • South Amerindians show greater miscegenation than European-derived Gauchos.
      • Admixed and African-derived present the highest levels of population stratification.
      • The panel is a promising tool for biogeographical ancestry and human identification.

      Abstract

      Forensic DNA phenotyping (FDP) includes biogeographic ancestry (BGA) inference and externally visible characteristics (EVCs) prediction directly from an evidential DNA sample as alternatives to provide valuable intelligence when conventional DNA profiling fails to achieve identification. In this context, the application of Massively Parallel Sequencing (MPS) methodologies, which enables simultaneous typing of multiple samples and hundreds of forensic markers, has been gradually implemented in forensic genetic casework. The Precision ID Ancestry Panel (Thermo Fisher Scientific, Waltham, USA) is a forensic multiplex assay consisting of 165 autosomal SNPs designed to provide biogeographic ancestry information. In this work, a sample of 250 individuals from Rio Grande do Sul (RS) State, southern Brazil, apportioned into four main population groups (African-, European-, Amerindian-, and Admixed-derived Gauchos), was evaluated with this panel, to assess the feasibility of this approach in a highly heterogeneous population. Forensic descriptive parameters estimated for each population group revealed that this panel has enough polymorphic and informative SNPs to be used as a supplementary instrument in forensic individual identification and kinship testing regardless of ethnicity. No statistically significant deviation from Hardy-Weinberg equilibrium was observed after Bonferroni correction. However, seven loci pairs displayed linkage disequilibrium in pairwise LD testing (p < 3.70 × 10−6). Interpopulation comparisons by FST analysis, MDS plot, and STRUCTURE analysis among the four RS population groups apart and along with 89 reference worldwide populations demonstrated that Admixed- and African-derived Gauchos present the highest levels of admixture and population stratification, whereas European- and Amerindian-derived exhibit a more homogeneous genetic conformation.

      Keywords

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