Multiplex assay development and mutation rate analysis for 13 RM Y-STRs in Chinese Han population

In this study, a novel multiplex polymerase chain reaction (PCR) assay was developed for amplifying the newly introduced 13 rapidly mutating Y-STR markers (RM Y-STRs) including DYF387S1, DYF399S1, DYF403S1a/b, DYF404S1, DYS449, DYS518, DYS526b, DYS547, DYS570, DYS576, DYS612, DYS626, and DYS627. In addition, a survey for mutation rates of the 13 RM Y-STRs in Chinese Han population was performed to make sure of the mutation characteristic and application in Chinese group. With 14,476 allele transfers in 1034 father–son pairs, 221 mutation events occurred, of which 215 were one-step mutations and 6 were two-step mutations. Nineteen father–son pairs were found to have mutations at two loci and one pair at three loci. Based upon our research data, 18.96 % of all 1034 father–son pairs were successfully differentiated, and the estimated locus-specific mutation rates varied from 4.84 × 10⁻³ to 6.29 × 10⁻², with an average estimated mutation rate 1.53 × 10⁻² (95 % CI 1.33 × 10⁻² to 1.74 × 10⁻²). Among the 13 Y-STR markers, eight loci (DYF399S1, DYF403S1a, DYF404S1, DYS449, DYS518, DYS547, DYS576, and DYS612) had mutation rates higher than 1.00 × 10⁻², and the rest loci lower than 1.00 × 10⁻² in Chinese samples.