论文部分内容阅读
Previous studies have demonstrated that a large sample size is needed to reliably estimate population and locus specific microsatellite mutation rates.Therefore,we conducted a long term collaboration study and performed a comprehensive analysis on the mutation characteristics of 19 autosomal short tandem repeat(STR)loci.The STR loci located at 15 of 22 autosomal chromosomes were analyzed in a total of 21,106 samples(11,468 parent-child meioses)in a Chinese population.This provided 217,892 allele transfers at 19 STR loci.An overall mutation rate of 1.20×10-3(95%CI,1.06-1.36×10-3)was observed in the populations across 18 of 19 STR loci,except for the TH01 locus with no mutation found.