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

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...

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Bibliographic Details
Published in:Molecular genetics and genomics : MGG 2020-09, Vol.295 (5), p.1263-1268
Main Authors: Yang, Qinrui, Shen, Yiwen, Shao, Chengchen, Liu, Yidong, Xu, Hongmei, Zhou, Yueqin, Liu, Zhiping, Sun, Kuan, Tang, Qiqun, Xie, Jianhui
Format: Article
Language:English
Subjects:
Alleles
Animal Genetics and Genomics
Biochemistry
Biomedical and Life Sciences
Forensic science
Genetic analysis
Genotyping
Heredity
Human Genetics
Life Sciences
Microbial Genetics and Genomics
Mutation
Mutation rates
Original Article
Plant Genetics and Genomics
Short tandem repeats
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Summary: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.
ISSN:1617-4615
1617-4623
DOI:10.1007/s00438-020-01701-w