查看文章

Precise estimates of mutation rates at Y‐chromosomal microsatellite STR (short tandem repeat) loci make an important basis for paternity diagnostics and dating of Y chromosome lineage origins. There are indications of considerable locus mutation rate variability between (inter‐) and within (intra‐) loci. We have studied nine Y‐STR loci—DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385, and DYS388—in 1,766 father–son pairs of confirmed paternity (a total of 15,894 meioses). Five biallelic markers were also analyzed in the fathers—Tat, YAP, 12f2, SRY1532, and 92R7—defining haplogroups 1, 2, 3, 4, 9, and 16, respectively. A total of 36 fragment length mutations were observed: 24 gains (22 single‐step, two double‐step) and 12 single‐step losses. Thus, there was a significant surplus of gains (p=0.045). Overall, the mutation rate was positively correlated to STR repeat length and there was a …