International Journal of Legal Medicine

, Volume 122, Issue 6, pp 529–533

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

Authors

    • Institute of Legal MedicineUniversity of Santiago de Compostela
  • Cíntia Alves
    • IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto
  • Elizeu Carvalho
    • Laboratorio de Diagnósticos por DNAInstituto de Biologia, Universidade do Estado do Rio de Janeiro
  • Mónica Carvalho
    • Institute of Legal Medicine
  • Rosa Espinheira
    • Serviço de Genética Forense Instituto Nacional de Medicina Legal, Faculdade de MedicinaUniversidade de Lisboa
  • Oscar García
    • Sección de Genética ForenseArea de Laboratorio Ertzaintza
  • Mª Fátima Pinheiro
    • Delegação do Porto do Instituto Nacional de Medicina Legal
  • Lurdes Pontes
    • Delegação do Porto do Instituto Nacional de Medicina Legal
  • Mª João Porto
    • Institute of Legal Medicine
  • Oscar Santapa
    • Banco Nacional de Datos Genéticos, Hospital Dr. C.G. Durand
  • Cláudia Silva
    • Serviço de Genética Forense Instituto Nacional de Medicina Legal, Faculdade de MedicinaUniversidade de Lisboa
  • Denilce Sumita
    • Genomic Engenharia Molecular Ltda
  • Sérgio Valente
    • Banco Nacional de Datos Genéticos, Hospital Dr. C.G. Durand
  • Martin Whittle
    • Genomic Engenharia Molecular Ltda
  • Iñaki Yurrebaso
    • Sección de Genética ForenseArea de Laboratorio Ertzaintza
  • Angel Carracedo
    • Institute of Legal MedicineUniversity of Santiago de Compostela
  • António Amorim
    • IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto
    • Faculdade de CiênciasUniversidade do Porto
  • Leonor Gusmão
    • IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto
  • GEP-ISFG (The Spanish and Portuguese Working Group of the International Society for Forensic Genetics)
Short Communication

DOI: 10.1007/s00414-008-0265-z

Cite this article as:
Sánchez-Diz, P., Alves, C., Carvalho, E. et al. Int J Legal Med (2008) 122: 529. doi:10.1007/s00414-008-0265-z

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.

Keywords

Y-chromosome haplotypesSTRsAmpFlSTR YFiler kitMutation rates

Supplementary material

414_2008_265_MOESM1_ESM.pdf (31 kb)
Table S1List of haplotypes of non-related fathers included in the present study (PDF 31.1 KB).

Copyright information

© Springer-Verlag 2008