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Detection of a novel 16.3 variant allele at locus DYS533 in R1b males inhabiting southern South America: A 19-nucleotide insertion explains its origin based on Sanger sequencing results

  • Andrea Sala
    Correspondence
    Correspondence to: Junin 956, Ciudad Autónoma de Buenos Aires, 1113, Argentina.
    Affiliations
    Universidad de Buenos Aires - Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética. Cátedra de Genética Forense y Servicio de Huellas Digitales Genéticas (SHDG), Junin 956, Ciudad Autónoma de Buenos Aires 1113, Argentina

    Consejo Nacional de Investigaciones Científicas y Técnicas-CONICET, Argentina
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  • Miguel Marino
    Affiliations
    Registro Provincial de Huellas Genéticas Digitalizadas, Lab. de Genética Forense-Ministerio Público Fiscal de Mendoza, Argentina
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  • Alejandra Guinudinik
    Affiliations
    Servicio de Biología Molecular del Cuerpo de Investigaciones Fiscales, Ministerio Público de Salta, Argentina
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  • Valeria Marcucci
    Affiliations
    Laboratorio Regional de Investigación Forense, Tribunal Superior de Justicia de Santa Cruz, Argentina
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  • Hortensia Cano
    Affiliations
    Laboratorio Regional de Investigación Forense, Tribunal Superior de Justicia de Santa Cruz, Argentina
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  • Silvia Vannelli Rey
    Affiliations
    Laboratorio Regional de Genética Forense, Ministerio Público de Río Negro, Argentina
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  • Cecilia Bobillo
    Affiliations
    Laboratorio de Genética Forense, Ministerio Público de La Pampa, Argentina
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  • Josefina Castagnola
    Affiliations
    Universidad de Buenos Aires - Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética. Cátedra de Genética Forense y Servicio de Huellas Digitales Genéticas (SHDG), Junin 956, Ciudad Autónoma de Buenos Aires 1113, Argentina
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  • Lucía Garrigós-Calivares
    Affiliations
    Universidad de Buenos Aires - Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética. Cátedra de Genética Forense y Servicio de Huellas Digitales Genéticas (SHDG), Junin 956, Ciudad Autónoma de Buenos Aires 1113, Argentina

    Consejo Nacional de Investigaciones Científicas y Técnicas-CONICET, Argentina
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  • Santiago Ginart
    Affiliations
    Universidad de Buenos Aires - Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética. Cátedra de Genética Forense y Servicio de Huellas Digitales Genéticas (SHDG), Junin 956, Ciudad Autónoma de Buenos Aires 1113, Argentina

    Consejo Nacional de Investigaciones Científicas y Técnicas-CONICET, Argentina
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  • Mariela Caputo
    Affiliations
    Universidad de Buenos Aires - Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética. Cátedra de Genética Forense y Servicio de Huellas Digitales Genéticas (SHDG), Junin 956, Ciudad Autónoma de Buenos Aires 1113, Argentina

    Consejo Nacional de Investigaciones Científicas y Técnicas-CONICET, Argentina
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  • Daniel Corach
    Affiliations
    Universidad de Buenos Aires - Facultad de Farmacia y Bioquímica, Departamento de Microbiología, Inmunología, Biotecnología y Genética. Cátedra de Genética Forense y Servicio de Huellas Digitales Genéticas (SHDG), Junin 956, Ciudad Autónoma de Buenos Aires 1113, Argentina

    Consejo Nacional de Investigaciones Científicas y Técnicas-CONICET, Argentina
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Published:October 10, 2022DOI:https://doi.org/10.1016/j.fsigen.2022.102789

      Highlights

      • Novel sequence structure at locus DYS533.
      • Upstream insertion explains a new variant allele DYS533/16.3.
      • New variant allele associated to south american Y haplotypes.

      Abstract

      We typed 1541 Y-STR haplotypes from reference samples along forensic casework investigations. In three haplotypes, we detected a variant allele designed as 16.3 at locus DYS533. This was confirmed by amplification using two commercial kits. Sanger sequencing revealing a novel motif corresponding to [TATC]12 repeats with a 19-bp insertion in the flanking upstream region. We propose its origin as an insertion at − 9.1 upstream of the repeat motifs. We searched other local databases and found this allele in various geographical areas of Argentina and neighbouring countries. The haplotypes share a common core of 10 Y-STRs (DYS389-I/13; DYS389-II/30; DYS19/14; DYS481/22; DYS438/12; DYS437/16; DYS635/23; DYS392/13; DYS393/13; GATA H4/11) and belong to the R1b haplogroup. This 16.3 allele is restricted to southern South America, which allows us to propose a local and relatively recent origin. The sequence described herein constitutes a novelty that could be considered in future criteria for the nomenclature of STRs based on massively parallel sequencing.

      Keywords

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