AimTo determine newest the most accurate allele frequencies for 15 short tandem repeat (STR) loci in the Bosnian and Herzegovinian population, calculate statistical parameters, and compare them with the relevant data for seven neighboring populations.MethodsGenomic DNA was obtained from buccal swabs of 1000 unrelated individuals from all regions of Bosnia and Herzegovina. Genotyping was performed using PowerPlex® 16 System to obtain allele frequencies for 15 polymorphic STR loci including D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX, and FGA. The calculated allele frequencies were also compared with the data from neighboring populations.ResultsThe highest detected value of polymorphism information content (PIC) was detected at the PentaE locus, whereas the lowest value was detected at the TPOX locus. The power of discrimination (PD) values had similar distribution, with Penta E showing the highest PD of 0.9788. While D18S51 had the highest value of power of exclusion (PE), the lowest PE value was detected at the TPOX locus.ConclusionUpon comparison of Bosnian and Herzegovinian population data with those of seven neighboring populations, the highest allele frequency differentiation was noticed between Bosnian and Herzegovinian and Turkish population at 5 loci, the most informative of which was Penta E. The neighbor-joining dendrogram constructed on the basis of genetic distance showed grouping of Slovenian, Austrian, Hungarian, and Croatian populations. Bosnian and Herzegovinian population was between the mentioned cluster and Serbian population. To determine more accurate distribution of allelic frequencies and forensic parameters, our study included 1000 unrelated individuals from all regions of Bosnia and Herzegovina, and our findings demonstrated the applicability of these markers in both forensics and future population genetic studies.

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ABSTRACT:The floods in Bosnia and Herzegovina in May 2014 caused landslides all over the country. In the small village of Serici, near the town of Zenica, a landslide destroyed the local cemetery, relocated graves, and commingled skeletal remains. As the use of other physical methods of identification (facial recognition, fingerprint analysis, dental analysis, etc.) was not possible, DNA analysis was applied. DNA was isolated from 20 skeletal remains (bone and tooth samples) and six reference samples (blood from living relatives) and amplified using PowerPlex â Fusion and PowerPlex â Y23 kits. DNA profiles were generated for all reference samples and 17 skeletal remains. A statistical analysis (calculation of paternity, maternity, and sibling indexes and matching probabilities) resulted in 10 positive identifications. In this study, 5 individuals were identified based on one reference sample. This has once again demonstrated the significance of DNA analysis in resolving the most complicated cases, such as the identification of commingled human skeletal remains.KEYWORDS: forensic science, DNA identification, skeletal remains, floods, landslides Identification of victims of mass disasters (wars, plane crashes, natural disasters) is usually challenging because large numbers of bodies are often found together at the same time and premortem information is not always available (1). The development of the latest technologies of genomic (both autosomal and germ line) and mitochondrial DNA analysis has provided an extremely efficient forensic tool for human identification. Moreover, DNA analysis has become a method used for validation/ rejection of the results obtained through the previous analyses, even in cases where the level of recognition and the possibility of identification of the body were relatively good (2). However, due to the rapid decay of the bodies, long time span, or other circumstances, forensic experts often rely exclusively on the analysis of DNA from skeletal or dental remains (3) for the purpose of identification of the victims of war or mass disasters.DNA analysis plays an important role in identifying human remains from mass graves and mass fatality incidents (4-6), and this powerful forensic tool is recognized as the most reliable method for human skeletal remains identification. The major advantage of DNA testing is the identification of almost each and every portion of the remains recovered from the disaster site or mass graves. On the other hand, small quantities of DNA and/or degraded DNA material found can often complicate DNA analysis and the interpretation by the laboratory (7). In such cases, mtDNA, miniSTRs, and STR markers located on Y and X chromosomes offer good solutions (8). Also, multiplex STR kits that are available on the market today are responsive to small amounts of DNA and less sensitive to the presence of different inhibitors.Torrential rain in mid-May 2014 brought upon intense flooding in Bosnia and Herzegovina. Floods affected a quarter of the country's territory, activated...

These results could be used as an additional investigation of the genetic relationship between the regional populations in Bosnia and Herzegovina and neighbouring human populations, as well as for further human population and forensic genetics studies.

Mutation analysis in forensic genetics and occurrence of mutations at short-tandem repeat (STR) loci, are very important in paternity testing and precise elucidation of obtained genetic profiles. To determine these locus-specific mutations in Bosnian-Herzegovinian population and their rate, 15 or 22 autosomal loci were typed using PowerPlex 16 and PowerPlex Fusion systems. In total, 1253 individuals within 583 parenthood testing cases were profiled at the Institute for Genetic Engineering and Biotechnology, University of Sarajevo during the period from 2009-2018. Out of total cases, in 13 cases 14 mutations were discovered at 11 loci. Among all tested DNA profiles two mutations occurred at D8S1179, D18S51 and FGA loci each, and one mutation at PENTA D, D3S1358, CSF1P0, D21S11, D5S818, vWA, D16S539, PENTA E. Mutation rates were calculated for 11 loci and were in consistency with mutation rates reported for correspondent locus. In our study, one mutation at locus PENTA D derives from maternal source. Also in one trio paternity case two single-step mutations at loci D16S539 and D18S51 were observed. Our results confirmed mutation analysis is important in paternity testing and therefore much attention should be directed at their analysis