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The region of Western Balkans has been inhabited since the Paleolithic era and was the route of farming from the Middle East to Europe during the Neolithic era (7th millennium BC). In the present study, Y-STR data from worldwide populations have been used to construct median-joining networks. The study was performed using Whit Athey’s Haplogroup Predictor, Y Utility and Network 4 software packages to construct networks, perform clustering of closely related Y chromosomes and calculate time estimates between individual nodes. The results of the study imply that geographically close populations cluster together on both worldwide and European level. It was observed that an elevated number of study populations and individual haplogroups increases the possibility that individuals of different racial and ethnic background cluster within the same or neighboring clades of network. An example is the case of the Nigerian population clustering closely with the populations from the Western Balkans. Subsequent time estimates performed based on the mutation frequency between the ancestral node and its descendant nodes revealed that I2a is the oldest haplogroup in the major area of the Balkan Peninsula (estimated separation time from its ancestral state: 4858 years), followed by haplogroups E1b1b (4088 years) and R1a (3910 years). This study is based on data collected from a single database and, therefore, gives approximations of the relative time distance between the nodes. Our results are nonetheless in accordance with previously published papers investigating the frequency of Y haplogroups based on Y-SNP variant frequencies, indicating that Western Balkan countries are mainly represented by I2a subclade (average for six countries 35.93%), followed by the other two haplogroups (average for six countries 23.16% and 10.62% regarding R1a and E1b1b, respectively).

A. Pilav, N. Pojskić, A. Ahatović, M. Dzehverovic, J. Cakar, D. Marjanovic

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.

Senol Dogan, N. Nalcaci, S. Doğan, A. Badnjević, A. Kurtovic, D. Marjanovic

Stress is a part of human life, especially for urban citizens. Stress is inseparable characteristics of student life, especially exam days. Stress management is one of the first steps which can affect students success during the exams, especially in universities. Blood pressure is the first stress observation symptom to understand its level. Therefore, to understand the stress impact of university students during the exam weeks, a conditional experiment has been designed. 200 students were selected from Bosnian and Turkish female and male. The students` blood systolic, diastolic and heart rate were measured to detect the differences between non-exams days and exam days. The blood pressure measurement has been done 3 times in specific times, non-exam days, midterm and final days. Since non-exam days were taken as stress off days, they were supposed that these days were control data to compare with exam days to see the differences. As a result of the measurements, Bosnian females showed the highest increasing, systolic 13.2%, diastolic 9.3% and heart rate 8.5% during the midterm exam days. The group has been followed by Bosnian males, systolic 6.9%, diastolic 6.1% and heart rate 6.63 increased during the midterm days. Although Turkish students blood pressure and heart rate increased, the values were less than Bosnian students. Moreover, high correlation significance results belonged to Bosnian females and males, 0.722 and 0.698 respectively. Finally, it was concluded that if students have scholarship they have more blood pressure during the exams. While 95% of Bosnian females and 90% of Bosnian males have some scholarship, no Turkish students have scholarship demonstrated the differences between Bosnian and Turkish students blood measurements.

ABSTRACT Aberrant methylation is one of the driving forces of cancer genome development. Although the rate of methylation appears massively variable across the genome, it is mainly observed in histone modification, chromatin organization, DNA accessibility, or promoter sequence. Methylation of promoter sequence occurs mostly to cytosine nucleotides, which can affect transcription factors' binding affinities. In this study, we demonstrated that cytosine repeats (C types density), consisting of CC, CCC, CCCC, CCCCC, CCCCCC, CCCCCCC motifs and CpG islands density in 25 proto-oncogenes, tumor suppressor genes and control genes may play a role in the pathogenesis of acute myeloid leukemia. The promoter sequences were divided into a 100 nucleotide window from −500 to +100 nucleotides and 20 nucleotide window from −100 to +100. Each window is analyzed to find the higher C type and CpG islands density, which may cause the increased methylation in the promoter sequence. Our novel findings show that promoter sequence cytosine repeats and CpG density increase closer to transcription sites, especially just before and after the transcription start site (TSS). The results demonstrate that cytosine density increases while proto-oncogenes and TSG promoter sequences are closer to TSS 50.8% and 41.0% respectively, if (−500 to −200) and (−100 to +100) windows of the nucleotide sequences are compared. This proves that around TSS location has special nucleotide motifs and could be an important implication for our understanding of potential methylating locations in promoters.

J. Mušanović, Azra Metović, E. Pepić, B. Imamović, Amela Džubur-Alić, Marijana Filipovska-Mušanović, D. Marjanovic

In this study the efficacy of short tandem repetitive sequences - STR was examined to prove kinship among the descendants of one parent pairs within the small local population by analyzing sharing of alleles per locus at siblings and non-siblings of the two villages: Vukotići and Orahovica and comparing these results with the results of a heterogeneous Bosnian-Herzegovinian population of our previous research. There was a significant difference in this division in the group of siblings and a group of non-siblings as well and the phenomenon of polarization when it comes to the representation of sharing zero and two alleles in the samples for both villages, with significantly overrepresented sharing of zero alleles at non-siblings and significantly overrepresented sharing of two alleles at siblings. By comparing sharing of alleles between sample from the small local population and the sample from mixed population from our earlier research, there is no statistically significant difference in the distribution of 2, 1 and 0 alleles between samples of these two population. This obtained ratio of dividing 2, 1 and 0 alleles in these two samples is about that both samples belongs to the same Bosnian-Herzegovinian population. and in the village of Vukotići. One of the possible reasons is the fact that Vukotići is less than the Orahovica. Using STR system in determining the kinship, or lack of the kinship in a small local populations within the Bosnian-Herzegovinian population, is proved to be a successful method based on the results of this research.

Mahmutbegovic Emir, Adler Grażyna, Edin Medjedović, Mahmutbegovic Nevena, S. Dogan, Pawińska-Matecka Anna, Czerska Ewa, D. Marjanovic

Hacer Konakli, Zafer Konakli, Senol Dogan, D. Marjanovic, S. Dogan

polymorphism prevalence in general population of six Balkan The aim of this study was to investigate the prevalence of RR, RX and XX genotypes of rs1815739 single nucleotide polymorphism of ACTN3 gene in general population of six Balkan countries. This SNP is currently thought to give genetic predisposition for advantageous sport performance, with its R allele positively correlating with better performance in strength/power sports, and X allele being present in higher frequency in elite athletes in endurance disciplines. A total of 483 individuals (281 males and 202 females) from seven populations from six countries was tested. Samples were collected by buccal swabbing method, DNA was isolated according to salting-out protocol and genotyping was performed using PCR and RFLP analysis. Obtained results suggest that RR and RX genotypes (43.7% and 44.1%, respectively) are overrepresented when compared to XX genotype (12.2%). The XX genotype in the study samples is present in lower frequency when compared to the global (16-18%) and European (18%) average. This study reports the first population data on genotype prevalence in sports-related genes for this part of Europe and is the beginning of research interests that intend to investigate genetic predispositions of elite athletes from this region competing internationally in different disciplines.

Hasan Emin Balkaya, C. Gurkan, M. Doğan, R. Tunç, D. Marjanovic, S. Dogan

M. Čoklo, D. H. Auguštin, J. Šarac, Natalija Novokmet, J. Sindik, Ana Perinić Lewis, Mateja Zajć Petranovic, L. Mulahasanovic et al.

The aim of this preliminary study is to analyze genetic specificity of Kosovo Albanians comparing with neighboring populations using new genetic tool - MEDISCOPE gene chip, to investigate the feasibility of this approach. We collected 37 DNA samples (9 Croats, 17 Albanians from Croatia and 11 Albanians from Kosovo) from unrelated males born in Croatia and Kosovo. Additionally, samples were expanded with female individuals and mtDNA analysis included a total of 61 samples (15 Croats, 23 Albanians from Croatia and 23 Albanians from Kosovo). This pilot study suggests that the usage of the MEDISCOPE chip could be recognized as an efficient tool within recognition of the population genetic specificity even within extremely small sample size.

Luca Pagani, D. Lawson, E. Jagoda, A. Mörseburg, A. Eriksson, M. Mitt, F. Clemente, Georgi Hudjashov et al.

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