Mutation rates of 13 RM Y-STRs in a Han population from Shandong province, China

Abstract 13 rapidly mutating (RM) Y-STRs in Shandong Han population were investigated to verify the mutation characteristic in order to assess the power of the STR loci to differentiate Chinese Han individuals. Using a novel multiplex PCR system, we identified 2880 alleles transferring in 180 father-son pairs at the 13 RM Y-STR loci, differentiating 19.44% of the 180 father-son pairs. Inconsistencies were observed in only four father-son pairs at two loci. 39 mutation events were observed at the 13 loci, with an average mutation rate of 0.0135 (95% CI, 0.0096–0.0185). The most rapidly mutating loci among the 13 STR loci are DYF399S1abc, DYF403S1b2 and DYS570. All mutations discovered in this study are one-step mutations. The frequency of loss to gain of repeats equals to 1.17:1.