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

  • Paula Sánchez-Diz
  • Cíntia Alves
  • Elizeu Carvalho
  • Mónica Carvalho
  • Rosa Espinheira
  • Oscar García
  • Mª Fátima Pinheiro
  • Lurdes Pontes
  • Mª João Porto
  • Oscar Santapa
  • Cláudia Silva
  • Denilce Sumita
  • Sérgio Valente
  • Martin Whittle
  • Iñaki Yurrebaso
  • Angel Carracedo
  • António Amorim
  • Leonor Gusmão
  • 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

Authors and Affiliations

  • Paula Sánchez-Diz
    • 1
  • Cíntia Alves
    • 2
  • Elizeu Carvalho
    • 3
  • Mónica Carvalho
    • 4
  • Rosa Espinheira
    • 5
  • Oscar García
    • 6
  • Mª Fátima Pinheiro
    • 7
  • Lurdes Pontes
    • 7
  • Mª João Porto
    • 4
  • Oscar Santapa
    • 8
  • Cláudia Silva
    • 5
  • Denilce Sumita
    • 9
  • Sérgio Valente
    • 8
  • Martin Whittle
    • 9
  • Iñaki Yurrebaso
    • 6
  • Angel Carracedo
    • 1
  • António Amorim
    • 2
    • 10
  • Leonor Gusmão
    • 2
  • GEP-ISFG (The Spanish and Portuguese Working Group of the International Society for Forensic Genetics)
  1. 1.Institute of Legal MedicineUniversity of Santiago de CompostelaA CoruñaSpain
  2. 2.IPATIMUP, Institute of Molecular Pathology and Immunology of the University of PortoPortoPortugal
  3. 3.Laboratorio de Diagnósticos por DNAInstituto de Biologia, Universidade do Estado do Rio de JaneiroRio de JaneiroBrazil
  4. 4.Institute of Legal MedicineCoimbraPortugal
  5. 5.Serviço de Genética Forense Instituto Nacional de Medicina Legal, Faculdade de MedicinaUniversidade de LisboaLisbonPortugal
  6. 6.Sección de Genética ForenseArea de Laboratorio ErtzaintzaBizkaiaSpain
  7. 7.Delegação do Porto do Instituto Nacional de Medicina LegalPortoPortugal
  8. 8.Banco Nacional de Datos Genéticos, Hospital Dr. C.G. DurandBuenos AiresArgentina
  9. 9.Genomic Engenharia Molecular LtdaSão PauloBrazil
  10. 10.Faculdade de CiênciasUniversidade do PortoPortoPortugal