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Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study

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Abstract

A collaborative work was carried out by the Spanish and Portuguese International Society for Forensic Genetics Working Group in order to extend the existing data on Y-short tandem repeat (STR) mutations at the 17 Y chromosome STR loci included in the AmpFlSTR YFiler kit (Applied Biosystems): DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and GATA H4.1. In a sample of 701 father/son pairs, 26 mutations were observed among 11,917 allele transfers across the 17 loci. After summing previously reported mutation data with our sample, mutation rates varied between 4.25 × 10−4 (95% CI 0.05 × 10−3–1.53 × 10−3) at DYS438 and 6.36 × 10−3 (95% CI 2.75 × 10−3–12.49 × 10−3) at DYS458. All mutations were single step, and mutations in the same father/son pair were found twice.

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Acknowledgments

IPATIMUP is partially supported by Fundação para a Ciência e a Tecnologia, through POCI (Programa Operacional Ciência e Inovação 2010). P.S.D. is supported by the Isidro Parga Pondal program (Plan Galego de Investigación, Desenvolvemento e Innovación Tecnolóxica-INCITE (2006–2010) from Xunta de Galicia).

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Authors and Affiliations

  1. Institute of Legal Medicine, University of Santiago de Compostela, C/San Francisco, s/n, 15782 Santiago de Compostela, A Coruña, Spain

    Paula Sánchez-Diz & Angel Carracedo

  2. IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, 4200-465, Porto, Portugal

    Cíntia Alves, António Amorim & Leonor Gusmão

  3. Laboratorio de Diagnósticos por DNA, Instituto de Biologia, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil

    Elizeu Carvalho

  4. Institute of Legal Medicine, Coimbra, Portugal

    Mónica Carvalho & Mª João Porto

  5. Serviço de Genética Forense Instituto Nacional de Medicina Legal, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal

    Rosa Espinheira & Cláudia Silva

  6. Sección de Genética Forense, Area de Laboratorio Ertzaintza, Bizkaia, Spain

    Oscar García & Iñaki Yurrebaso

  7. Delegação do Porto do Instituto Nacional de Medicina Legal, Porto, Portugal

    Mª Fátima Pinheiro & Lurdes Pontes

  8. Banco Nacional de Datos Genéticos, Hospital Dr. C.G. Durand, Buenos Aires, Argentina

    Oscar Santapa & Sérgio Valente

  9. Genomic Engenharia Molecular Ltda, São Paulo, Brazil

    Denilce Sumita & Martin Whittle

  10. Faculdade de Ciências, Universidade do Porto, Porto, Portugal

    António Amorim

Authors
  1. Paula Sánchez-Diz
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  2. Cíntia Alves
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  3. Elizeu Carvalho
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  4. Mónica Carvalho
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  5. Rosa Espinheira
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  6. Oscar García
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  7. Mª Fátima Pinheiro
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  8. Lurdes Pontes
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  9. Mª João Porto
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  10. Oscar Santapa
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  11. Cláudia Silva
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  12. Denilce Sumita
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  13. Sérgio Valente
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  14. Martin Whittle
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  15. Iñaki Yurrebaso
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  16. Angel Carracedo
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  17. António Amorim
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  18. Leonor Gusmão
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Consortia

GEP-ISFG (The Spanish and Portuguese Working Group of the International Society for Forensic Genetics)

Corresponding author

Correspondence to Paula Sánchez-Diz.

Electronic Supplementary Material

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Table S1

List of haplotypes of non-related fathers included in the present study (PDF 31.1 KB).

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Sánchez-Diz, P., Alves, C., Carvalho, E. et al. Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study. Int J Legal Med 122, 529–533 (2008). https://doi.org/10.1007/s00414-008-0265-z

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  • DOI: https://doi.org/10.1007/s00414-008-0265-z

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