Analysis of autosomal STR tri-allelic patterns in paternity testing
Objective Investigation of the distribution characteristics and mechanism of inheritance of tri-allelic pat-terns in the STR locus.Methods Confirmed the tri-allelic patterns found in 6028 parentage test cases by the Huaxia™ Plati-num kit and AGCU Expressmarker 22 Kit,and summarized the characteristics of the distribution of the tri-allelic patterns and their detection frequencies;and confirmed the newly discovered tri-allelic patterns located in the D6S1043 locus and in the D1S1656 locus by STR typing and Sanger sequencing.Results The total frequency of the tri-allelic patterns was 0.5634‰(9/15973),of which two cases(0.1252‰,2/15973)were detected in both D6S1043 and D18S51,and one case(0.0626‰,1/15973)was detected in D1S1656,D2S441,D13S317,Penta E,and Penta D.The three allelic genotypes of the four STR loci,D13S317,D18S51,Penta E,and Penta D,are more common,while the three allelic genotypes of the D2S441 and D13S317 loci are less common.The type Ⅰ triallelic genotype of D1S1656 locus and the type Ⅱ triallelic genotype of D6S1043 locus have not been reported.Conclusion The individual's chimerism and sampling process can lead to various forms of the proportion of original genes and mutated genes in the type Ⅰ triallelic gene pattern,following the peak height of the domi-nant allele as the sum of the other two.The formation of type Ⅱ triallelic gene patterns may be attributed to non allelic homologous recombination.The accuracy of STR typing and understanding of the genetic characteristics of STR triallelic genotypes are crucial for the accuracy of identification opinions in parent-child identification and individual identification.
short tandem repeat(STR)tri-allelic patternmechanism of inheritance