Abstract
Y-STR mutational rate estimation is very important for the correct evaluation of typing results in forensic casework and specially kinship genetic studies. In this work we studied 95 Southern Portuguese Caucasian father/son pairs in order to estimate mutational rates for the 17 Y-STRs multiplex used in routine casework. In a total of 1615 allele transfers three single step mutations were detected in DYS385a, DYS439, and DYS448, with an estimated mutation rate of 10,526 × 10 −3 (95%CI 0.265 × 10 −3 to 20.788 × 10 −3). The estimated average mutation rate is 1.858 × 10 −3 (95%CI 8.08 × 10 −4 to 2.908 × 10 −3). It would be important to characterize more father/son pairs in order to estimate more reliable allele specific mutation rates for the most widely used Y-STRs markers in forensic genetics.
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