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.