Spanish and Portuguese-speaking Working Group of the International Society for Forensic Genetics

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Mutation rate Yfiler

Sánchez-Diz P., Alves C., Carvalho E., Carvalho M., Espinheira R., García O., Pinheiro M.F., Pontes L., Porto M.J., Santapa O., Silva C., Sumita D., Valente S., Whittle M., Yurrebaso I., Carracedo A., Amorim A., Gusmão L., GEP-ISFG (The Spanish and PortugueseWorking Group of the International Society for Forensic Genetics). Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study. Int J Legal Med (2008) 122:529–533.

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.

sanchez-diz et al 2008_y-mutations