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Genetic data and de novo mutation rates in father-son pairs of 23 Y-STR loci in Southern Brazil population

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Abstract

We evaluated haplotype and allele frequencies, as well as statistical forensic parameters, for 23 Y-chromosome short tandem repeats (STRs) loci of the PowerPlex®Y23 system (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA-H4, DYS481, DYS533, DYS549, DYS570, DYS576, DYS643) in a sample of 150 apparently healthy males, resident in South Brazil. A total of 150 different haplotypes were identified. The highest gene diversity (GD) was observed for the single locus marker DYS570 (GD = 0.7888) and for a two-locus system DYS385 (GD = 0.9009). We also examined 150 father-son pairs by the same system, and a total of 13 mutations were identified in the 3450 father-son allelic transfers, with an overall mutation rate across the 23 loci of 3.768 × 10−3 (95 % CI: 3.542 × 10−3 to 3.944 × 10−3). In all cases there was only one locus mutated with gain/loss of repeats in the son (5 one-repeat gains, and 7 one-repeat and 1 two-repeat losses); we observed no instances of mutations involving a non-integral number of repeats.

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Authors and Affiliations

  1. Laboratório de Genética Humana e Molecular, Pontifícia Universidade Católica do Rio Grande do Sul, Av. Ipiranga, 6681, Prédio 12C, Porto Alegre, RS, 90619-900, Brazil

    Nicole Nascimento Da Fré, Rodrigo Rodenbusch, André Zoratto Gastaldo & Clarice Sampaio Alho

  2. Laboratório de Investigação de Paternidade, Fundação Estadual de Produção em Pesquisa do Rio Grande do Sul, Av. Ipiranga, 5400, Porto Alegre, RS, 90610-000, Brazil

    Nicole Nascimento Da Fré, Rodrigo Rodenbusch & André Zoratto Gastaldo

  3. Graduate Program in Biomolecular Science, University of Central Florida, P.O. Box 162366, Orlando, FL, 32816-2366, USA

    Erin Hanson & Jack Ballantyne

  4. Department of Chemistry, University of Central Florida, Building 5, 4000 Central Boulevard, P.O. Box 162366, Orlando, FL, 32816-2366, USA

    Erin Hanson & Jack Ballantyne

  5. National Center for Forensic Science, P.O. Box 162367, Orlando, FL, 32816-2367, USA

    Erin Hanson & Jack Ballantyne

Authors
  1. Nicole Nascimento Da Fré
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  2. Rodrigo Rodenbusch
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  3. André Zoratto Gastaldo
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  4. Erin Hanson
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  5. Jack Ballantyne
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  6. Clarice Sampaio Alho
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Corresponding author

Correspondence to Clarice Sampaio Alho.

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Da Fré, N.N., Rodenbusch, R., Gastaldo, A.Z. et al. Genetic data and de novo mutation rates in father-son pairs of 23 Y-STR loci in Southern Brazil population. Int J Legal Med 129, 1221–1223 (2015). https://doi.org/10.1007/s00414-014-1101-2

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  • DOI: https://doi.org/10.1007/s00414-014-1101-2

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