ABSTRACT
Objective To investigate the mutation phenomenon of 20 autosomal STR loci in Henan Han population. Methods A total of 3011 parentage confirmed cases were collected to screen mutation events, ascertain the source of mutation, calculate mutation rate, analyze mutation rules and compare with the mutation condition of populations in different regions. Results 76 mutation events were observed in 19 STR loci, the average and accumulative mutation rate reached to 0.08% and 1.6629%, respectively. The ration of paternal versus maternal mutation was 8:1. Mutation rates of Penta E and D12S391 loci in Henan Han population were lower than the Han population of northern China(P<0.05); the mutation rate of CSF1PO locus were lower than Guangdong population and Yunan Han population(P<0.05); the mutation rates of D6S1043 and D12S391 loci were lower than Guangdong population(P<0.05). Conclusion STR mutation events were common in paternity testing. Region differences among mutation rate were significant.
ABSTRACT
[Objective] To analyze the phenomena and characteristics of the mutations in 24 short tandem repeat (STR) loci. [Methods] A total of 5 084 parentage confirmed cases were analyzed. The mutation events were screened. The sources of mutant alleles were ascertained. The mutation rates of STR loci were calculated. The rule and feature of mutation were analyzed. [Results] A total of 172 mutation events were observed in 24 STR loci. The mutation rate was between 0-0.492%. The number of mutation loci was between 1 and 3 for 1 case. The mutation model was accordant with stepwise mutation model. The maximum mutation step was four. In addition, the ratio of paternal versus maternal mutation was 3.55:1. [Conclusion] STR mutation events were common in paternity testing. The information of mutated STR loci should be considered and included when calculating PI value.