Mutational analysis of 16 STR markers in the Slovak population

Abstract

Background

Short tandem repeats (STRs) are genetic markers frequently used for human identification and paternity testing. They are highly mutable, which may occasionally lead to inconsistencies between the genotypes of parents and their children. As the mutation rates of individual STR markers can vary among populations, population-specific data are of high importance.

Aim

To investigate the mutation rates of 16 STR markers in the Slovak population.

Subjects and methods

In this study, we analysed the germline mutation rates of 16 STR markers (TH01, D3S1358, vWA, D21S11, D16S539, D1S1656, D19S433, SE33, D10S1248, D22S1045, D12S391, D8S1179, D2S1338, D2S441, D18S51 and FGA) in the Slovak population. At these loci, we analysed 42 096 allelic transfers and identified 61 mutation events.

Results

The loci with the highest overall mutation rates were SE33 and FGA, while no mutations were identified in TH01, D19S433 and D22S1045. The average paternal mutation rate was higher than the maternal mutation rate. All but one mutation consisted of gains or losses of a single repeat unit and the overall mutation rate was estimated to be 1.45 x10⁻³ per meiosis.

Conclusion

This study provides data which can be used to further strengthen the correct paternity index calculations and reliability of paternity testing in Slovakia.

Keywords:

• Mutation rates
• STR
• paternity testing

Ethics approval

All samples were analysed in accordance with the applicable laws and directives of the Slovak Republic (Personal Data Protection Act, Act No. 18/2018; Collection of Laws).

Consent to participate

All samples were collected from routine paternity testing after obtaining signed informed consent from each participant.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.