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


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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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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Correspondence to Paula Sánchez-Diz.

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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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  • Y-chromosome haplotypes
  • STRs
  • AmpFlSTR YFiler kit
  • Mutation rates