Slovenian population data for five new European Standard Set Short tandem repeat loci and SE33 locus

Aim

To establish the allele distribution and statistical parameters of forensic interest for the D10S1248, D22S1045, D2S441, D1S1656, D12S391, and SE33 loci in Slovenian population and to compare allele frequencies with those from other populations.

Methods

We analyzed blood and buccal swab samples from 333 unrelated, healthy Slovenian individuals. All samples were genotyped using the AmpFlSTR NGM Kit to obtain the allele frequency data for the loci D10S1248, D22S1045, D2S441, D1S1656, and D12S391. Samples from 113 individuals were also analyzed using the PowerPlex ESX 17 system to obtain the allele frequency data for the SE33 locus. Allele frequencies and statistical parameters of forensic interest were determined and frequency profiles compared between Slovenian and other European Caucasian populations using the Arlequin software, version 3.5.1.3.

Results

The investigated short tandem repeat (STR) loci in Slovenian population had a great discriminating potential with a combined discrimination power of 0.99999998. The highest discrimination power and polymorphism information content were observed for the SE33 locus, followed by loci D1S1656, D12S391, D10S1248, D2S441, and D22S1045. When Slovenian allele frequency distribution was compared with other European populations, deviations were found only for Spanish and Italian population for D2S441 and D12S391.

Conclusion

Slovenian population does not differ significantly from other European populations in terms of allele frequency distributions for the six analyzed STR loci. Based on forensic efficiency values, SE33 may be considered the most informative locus, which makes it especially useful in forensic investigations.In their recommendations for autosomal short tandem repeat (STR) DNA typing in forensic casework, the European Network of Forensic Institutes (ENFSI) and the European DNA Profiling (EDNAP) Group proposed the use of additional five STRs, three mini-STRs (D2S441, D10S1248, D22S1045), and two highly polymorphic STRs (D1S1656 and D12S391). The increased number of the European Standard Set (ESS) loci resulted in improved discrimination power, sensitivity, and reproducibility for the analysis of minute amounts of DNA (1,2). In the last few years, several commercial STR typing kits have been released, with five new ESS loci. The new kits have been shown to be robust enough to successfully genotype even degraded DNA from old bone material (3-5). These kits also include the AmpFlSTR NGM^TM PCR Amplification Kit (Applied Biosystems, Foster City, CA, USA) and the PowerPlex ESX 17 System (Promega, Madison, WI, USA), which we used for our population study. Allele frequencies for autosomal STRs (6,7), Y-chromosomal STRs (8), and mitochondrial DNA (9) were already determined for Slovenian population and the aim of this study was to apply new genetic markers in routine forensic casework to achieve higher evidential value of STR typing and to increase the number of short STR loci, which are better preserved in degraded samples. Some European population studies have already investigated the new ESS loci (D10S1248, D22S1045, D2S441, D1S1656, D12S391) and we compared Slovenian allele frequencies with them (10-17). Beside the analysis of 5 new ESS loci we also analyzed SE33 locus and compared allele frequencies with Austrian (15), Italian (16), German (18), and Spanish population (19).