Observation and Analysis of Mutation of 24 Short Tandem Repeat Loci / 中山大学学报(医学科学版)

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 3.551. [Conclusion] STR mutation events were common in paternity testing. The information of mutated STR loci should be considered and included when calculating PI value.