Mutation rates of six Y-chromosomal STR loci estimated from 210 pedigrees in Chinese Han population

Abstract The Y-chromosomal short tandem repeats (Y-STRs) with low mutation rates as slowly mutating (SM) Y-STRs could be used to refine the construction of phylogenetic trees in evolutionary research. Six Y-STR markers (DYS388, DYS426, DYS461, DYS485, DYS525 and DYS561) were from the previously published paper and considered as SM Y-STRs. Here, we investigated the six Y-STRs from 210 pedigrees in Chinese Han population in Henan province, covering an overall number of 8178 meiotic transfers. The number of mutations of the six Y-STRs ranged from 0 (DYS388 and DYS426) to 12 (DYS561), resulting the observed mutation rates spanned from 0 (95% credible interval [CI], 0 ⿼ 2.196⿿y⿿10-3) to 8.804⿿y⿿10-3 (95% CI, 4.557⿿y⿿10-3 ⿼ 1.533⿿y⿿10-2). According to the results, only DYS388 and DYS426 could be classified as SM Y-STRs in the Chinese Han population. Although these results will replenish the data of Y-STR mutations as well as be important for paternal genealogy identification, kinship analysis, and phylogenetic tree reconstruction, the mutation rates of the six Y-STRs were significantly different among different populations, which we need to pay attention to in future studies.