Allele frequencies of 15 STR loci in Bosnian and Herzegovinian population.

Croat Med J. 2017 Jun; 58(3): 250–256. doi: 10.3325/cmj.2017.58.250 PMCID: PMC5470122 PMID: 28613042 Allele frequencies of 15 STR loci in Bosnian and Herzegovinian population Amela Pilav,1 Naris Pojskić,1 Anesa Ahatović,1 Mirela Džehverović,1 Jasmina Čakar,1 and Damir Marjanović2,3 Amela Pilav 1University of Sarajevo-Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina Find articles by Amela Pilav Naris Pojskić 1University of Sarajevo-Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina Find articles by Naris Pojskić Anesa Ahatović 1University of Sarajevo-Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina Find articles by Anesa Ahatović Mirela Džehverović 1University of Sarajevo-Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina Find articles by Mirela Džehverović Jasmina Čakar 1University of Sarajevo-Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina Find articles by Jasmina Čakar Damir Marjanović 2International Burch University, Sarajevo, Bosnia and Herzegovina 3Institute for Anthropological Research, Zagreb, Croatia Find articles by Damir Marjanović Author information Article notes Copyright and License information Disclaimer 1University of Sarajevo-Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina 2International Burch University, Sarajevo, Bosnia and Herzegovina 3Institute for Anthropological Research, Zagreb, Croatia Correspondence to: Amela Pilav Laboratory for forensic genetics University of Sarajevo Institute for Genetic Engineering and Biotechnology Zmaja od Bosne 8 (Kampus) 71000 Sarajevo, Bosnia and Herzegovina Received 2017 Apr 25; Accepted 2017 May 31. Copyright © 2017 by the Croatian Medical Journal. All rights reserved. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Aim To 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. Methods Genomic 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. Results The 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. Conclusion Upon 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. Short Tandem Repeats (STRs) are common markers in population biodiversity research, paternity testing, and forensic analysis of biological evidence. Reliability of STR amplification provides a high level of individualization that is crucial for population genetic studies. To obtain precise and reliable results of analysis, it is necessary to use population data obtained from a sufficient number of the samples (1). Currently available official allele frequencies for Bosnian and Herzegovinian population at 15 STR loci addressed in this study were published 10 years ago and obtained from only 100 unrelated individuals, which was acceptable at the time (2). The latest recommendations regarding the official publication and forensic usage of STR population data highlighted the need for increasing the size of population sample for its calculation. Therefore, the main aim of this study was to determine latest and more accurate allele frequencies and forensic statistical parameters for 15 most used STR loci in the Bosnian and Herzegovinian population and compare them with the relevant data for other neighboring populations. MATERIAL AND METHODS Material Biological buccal swab samples were collected from 1000 unrelated individuals from all regions of Bosnia and Herzegovina. Samples were randomly collected from routine casework performed during the period of 2006-2016 at the Institute for genetic engineering and biotechnology, University of Sarajevo. Only unrelated adults over 18 years of age were included in this study. Informed consent for the use of collected biological material and data was obtained from all subjects. DNA analysis DNA extraction was performed using the Qiagen DNeasyTM Tissue Kit (3). DNA concentration was determined using Quantifiler® Duo DNA Quantification Kit in 7500 RealTime PCR System (Applied Biosystems, Foster City, CA, USA). Genotypes at 15 autosomal STR loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX, FGA) and amelogenin were obtained using PowerPlex® 16 System (Promega, Madison, WI, USA) (4). PCR was performed according to the recommendations in 25-µL reactions. Amplification was carried out in a GeneAmp PCR System 9700 (Applied Biosystems). Fragment analysis was performed in ABI PRISM® 310 Genetic Analyzer (Applied Biosystems). A mix of 11.5 µL of formamide, 0.5 µL of Internal Lane Standard 600 (Promega) and 1 µL of PCR product was run under recommended conditions. GeneMapper® ID Software version 3.2 (Applied Biosystems) was used for raw data analysis. Statistical analysis Allele frequencies, matching probability (MP), power of discrimination (PD), power of exclusion (PE), and typical paternity index (TPI) were calculated within Microsoft Excel workbook template – PowerStats (5). Powermarker version 3.25 was used for estimati (...truncated)