FREQUENCIES OF ATYPICAL ALLELE VARIANTS IN THE FORENSICALLY SIGNIFICANT SHORT TANDEM REPEAT LOCUS D12S391 IN THE UKRAINIAN POPULATION
DOI: https://doi.org/10.17721/1728.2748.2025.103.50-57
Keywords:
population structure, human genetics, STR loci, PCR, DNA analysisAbstract
Introduction. Although many types of DNA analyses are currently used for forensic identification, the primary approach remains the analysis of short tandem repeat (STR) loci in human DNA. With the onset of the full-scale invasion of Ukraine by the Russian Federation, the main application of DNA analysis in the Forensic Service of the Ministry of Internal Affairs (MIA) of Ukraine has become the identification of victims of the Russo-Ukrainian war. For this purpose, laboratories of the Forensic Service of the MIA widely employ STR-PCR kits that enable the simultaneous amplification of 23 loci in a single sample, including the highly informative locus D12S391. With the growing number of biological samples subjected to forensic DNA analysis, the number of detected atypical allele variants has also increased, significantly complicating the interpretation process. In particular, atypical alleles have been identified in the D12S391 locus. The aim of this study was to describe atypical alleles detected in the forensically significant STR locus D12S391 in the Ukrainian population and to determine their frequencies.
Methods. The study was conducted retrospectively on an anonymized dataset of 53,000 DNA profiles from the Ukrainian population, obtained between 2014 and 2025 in the institutions of the Forensic Service of the MIA of Ukraine. The analyzed DNA profiles were derived from buccal epithelial samples. DNA was extracted, its quantity and quality were assessed using real-time PCR, and the DNA solutions were normalized to an optimal concentration. STR loci were amplified using the commercial PowerPlex® Fusion 6C PCR kit, followed by automatic separation and detection of amplicons via capillary electrophoresis using automated DNA analyzers.
Results. In the D12S391 locus, atypical allele variants were detected 16.3 (the frequency was found to be 6.6·10⁻⁵), 18.2 (5.66·10⁻⁵), 19.2 (9.43·10⁻⁶), 28 (4.72·10⁻⁵), and 29 (9.43·10⁻⁶). In addition, unique triallelic profile (20, 21, 22) was observed, which has not yet been reported or described in other populations
Conclusions. Atypical allele variants were detected in the D12S391 locus and their frequencies were estimated, including unexpected alleles 16.3, 18.2, and 19.2, as well as extremely long alleles 28 and 29. The detected triallelic profile 20, 21, 22 requires further investigation. The obtained results will improve the effectiveness and reliability of DNA profile interpretation in the D12S391 locus and enable more efficient use of atypical alleles in forensic DNA identification.
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