Two five-color fluorescence multiplex amplification systems of 13 Y chromosome short tandem repeat (Y-STR) loci (DYF387S1, DYF399S1, DYF403S1a/b, DYF404S1, DYS449, DYS518, DYS526a/b, DYS547, DYS570, DYS576, DYS612, DYS626, and DYS627) have been designed. A study was conducted measuring the mutation rates of the 13 Y-STRs in 501 father-son pairs of Han origin in Beijing, China. Among 7515 allele transmissions in 501 father-son pairs, 75 single-step and 2 two-step mutations were observed. Two father-son pairs had mutations at two different loci in 13 Y-STRs. The estimated mutation rates ranged from 2.00 × 10-3 (95% CI 1.00 × 10-4 to 1.11 × 10-2) for the DYF387S1, DYF403S1b, DYS526a, and DYS449 loci to 4.59 × 10-2 (95% CI 2.93 × 10-2 to 6.81 × 10-2) for the DYF399S1 locus. The average mutation rate is 1.02 × 10-2 (95% CI 8.10 × 10-3 to 1.28 × 10-2). Among these Y-STR markers, only DYF399S1, DYS627, DYF403S1a, DYS547, DYS612, and DYS626 had mutation rates higher than 1.00 × 10-2.
Keywords: Han population; Mutation rate; Y chromosome STR.