Genetic analysis of tri-allelic patterns at the CODIS STR loci

Abstract

In the routine of autosomal STR genotyping for forensic aims, tri-allelic patterns could be occasionally observed at a single locus in phenotypically normal individuals. Two predominant types of tri-allelic variants have been nominated. Uneven intensities of three alleles are normally considered as the Type 1 pattern, and balanced height of three alleles are considered as the Type 2 pattern. In this study, the prevalence of tri-allelic patterns at the CODIS STR loci was investigated in global populations based on previous reports. The frequencies of the Type 1 and Type 2 pattern manifest a correlation with the germline mutation rates at the CODIS STR loci. The irregular high frequencies of the Type 2 pattern at TPOX with low germline mutation rates could attribute to the stable inheritance of genomic rearrangement from ancestral origin. Furthermore, results from genetic pattern analysis show that only a single allele from STRs with the Type 1 pattern could be transmitted from parents to offsprings, while a single allele and a combination of two alleles from STRs with the Type 2 pattern present an equal opportunity of transmission from parents to offsprings. Altogether, these results provide a genetic portrait of STRs with tri-allelic patterns, which will help the genetic interpretation of tri-allelic patterns in forensic practice.

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Funding

This work was supported by National Natural Science Foundation of China (81571853).

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Contributions

QY, YS, JX conceived and designed the study. CS and YL contributed to sample collection of Type 1 and Type 2 tri-allelic patterns. HX, YZ and ZL conducted the investigation of case reports in literatures. QY, KS and QT conducted statistical analysis of tri-allelic cases. QY and YS wrote the paper, to which all authors contributed. All authors read and approved the final manuscript.

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Correspondence to Jianhui Xie.

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QY declares that she has no conflict of interest. YS declares that she has no conflict of interest. CS declares that he has no conflict of interest. YL declares that he has no conflict of interest. HX declares that she has no conflict of interest. YZ declares that she has no conflict of interest. ZL declares that she has no conflict of interest. KS declares that she has no conflict of interest. QT declares that he has no conflict of interest. JX declares that he has no conflict of interest.

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Yang, Q., Shen, Y., Shao, C. et al. Genetic analysis of tri-allelic patterns at the CODIS STR loci. Mol Genet Genomics (2020). https://doi.org/10.1007/s00438-020-01701-w

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Keywords

  • Tri-allelic genotype
  • Genetic variants
  • Paternity testing
  • Forensic genetics