Context Neoangiogenesis and lymphangio-genesis are essential for the growth of tumor and progression of malignancy. Objective The study examined the significance of VEGF-C expression in comparison to classical prognostic factors in differentiated thyroid carcinoma (DTC), as well as an independent prognostic marker in DTC. Design The study included 81 patients with DTC allocated in two groups according to the type of cancer (follicular versus papillary) and then compared to expression of VEGF-C and clinicopathological features. Methods Expression of VEGF-C was identified with anti-VEGF-C antibody using tris-EDTA buffer Antigen Retrieval Protocol. Each specimen was scored with a semi-quantitative score system (H-score). Results The analysis of T staging system showed a linear correlation between the size of a tumor, expression of VEGF-C and recurrence of a disease, with a statistical significance (p < 0.0001). There was a clear and significant correlation between VEGF-C expression and T stage in patients with papillary carcinoma (p = 0.0294). Analysis of invasion of a surgical margin demonstrated significant positivity in patients with papillary thyroid cancers who expressed VEGF-C (p = 0.0207) indicating the worse prognosis of a disease. Also a statistically significant correlation was between VEGF-C and extrathyroid extension, indicating the worse prognosis (p = 0.0133) in papillary cancers. The level of VEGF-C expression was statistically significant in patients with papillary thyroid cancer (p = 0.039). Conclusions This study undoubtedly demonstrates that VEGF-C expression is an evident negative prognostic factor in patients with papillary thyroid carcinoma, along with the classic prognostic factors, such as a larger tumor size, tumor margin involvement, extrathyroid extension, i.e. local aggressiveness.

Abstract This study offers the first report on variation sequence of the mitochondrial cytochrome b (MT-CYTB) gene in populations from Bosnia (northeastern Bosnia). This study was designed on the analysis of the genetic diversity of two populations of different cultural-anthropological and genetic origin, Roma population and native/non-Roma population. The main aim of our study was to estimate the usefulness of the CYTB sequence in the analysis of genetic categorization of different populations and intergroup diversity, as well as to provide some additional information on haplogroup-associated polymorphisms within the CYTB region in defining haplogroup status. Estimation of the genetic diversity was done using intra and intergroup genetic indices. The population-specific polymorphisms have been found in both categories of the populations. The results of the analysis of genetic differentiation show significant pairwise Fst differences between the Romani and native populations. Also, registered significant genetic differentiation is illustrated on the level of genetic variation between subpopulations of the Roma and non-Roma origin. The important result in our study is the confirmation of the significance of the triad of polymorphisms T14783C-G15043A-G15301A, indicating the influence of Asian component of the maternal gene pool on the genetic structure of the studied population of the Roma. Our data show that the haplogroup polymorphisms exist in the CYTB region and can provide useful information on the haplogroups that were defined only by the control region of the mtDNA. The results of this study indicate the region of CYTB gene can be a benefit in providing some additional information in the analysis of genetic structure of human populations and can be additionally applied in population studies.

It is widely accepted that understanding the heterogeneity of a population is important in assessment of the vulnerability of a conservation unit (Frankham et al., 2002). Standard measures such as estimation of heterozygosity, deviations from Hardy–Weinberg equilibrium, effective population size, inbreeding coefficients are widely used. Minor, but very important elements of these measures are allelic diversity, effective number of alleles and allelic richness which characterize the extent of genetic diversity. Allelic diversity (An) represents an average number of alleles per locus determined by direct count. When more than one locus is considered, it is calculated as a number of alleles averaged over loci expressed as k/l where k is the total number of alleles determined at all the observed loci and l is the number of loci (Frankham et al., 2002). The effective number of alleles (Ae) is a measure that shows the number of alleles required to ensure the same level of heterozygosity under the assumption of balanced allele frequency and low influence of rare alleles. It is expressed as 1/Σpi 2

This study was designed on the analysis of the mtDNA polymorphisms in three ethnic populations of Tuzla Canton of Bosnia and Herzegovina (Bosniaks, Croats and Serbs). The main aim of this study was to analyze the influences of the maternal gene flow on the genetic profile of the analyzed populations. The analysis of mtDNA variation based on relevant restriction fragment length polymorphisms (RFLP) in combination with HVSI variations of the control region (for detection of subhaplogroups of the haplogroup U) enabled the identification of the typical of the Western-Eurasian haplogroups (H, I, J, T, W, U, HV, HVO, K, V, and X), African/Near East lineages N1a and Asian haplogroup M. Our results suggest that mitochondrial gene pool of the three main ethnic groups of Tuzla region was shaped by influences of early and late migration routes which marked the settlement process of the Balkans. The effects of different migration directions are illustrated by the distribution of important indicators of the Late Glacial expansion (U5a), postglacial re-colonisation of Europe from glacial refuges of southwestern European (H, V, U5b1), central-eastern European Plain (U4), Italian Peninsula (U5b3) and neolithic expansion (U3, N1a, J and T). Our data can indicate a common genetic history, origin, as well as a similar contribution of the parental and maternal gene flow on genetic structure of the three main ethnic populations of modern Bosnia and Herzegovina.

Of the four species of the genus Satureja (Lamiaceae) that are recognized in Bosnia and Herzegovina, S. subspicata has the the widest distribution. It is taxonomically challenging species of geographically limited distribution and little data on its genetic diversity throughout its range is available. We sampled six geographically distinct populations from Bosnia and Herzegovina and applied nrDNA (ITS1, ITS2), chloroplast markers (matK and trnL) and AFLP to examine genetic diversity of S. subspicata in the center of its distribution range and to explore the possibility of establishing the species DNA barcode. AFLP analysis showed large genetic differentiation among populations as well as moderate correlation between genetic distance among populations and geographic distance among locations. MatK has not proven useful in distinguishing S. subspicata from sympatric species. However, nrDNA sequences provided necessary resolution power, with ITS2 being more informative. Estimates of evolutionary divergence between nrDNA sequences obtained in our research and homologous sequences of sympatric Satureja deposited in the GenBank reveal closer relationship between geographically proximate populations of different species and slight divergence within S. subspicata sequences pool. This outcome highlights the importance of considering overall genetic diversity across the distribution range of a species when assigning DNA barcode.

In the present study modern technology of DNA extraction and automatic genotyping was applied in Bosnian and Herzegovinian autochthonous horse breed by using 17-Plex horse genotyping kit. The study was aimed at investigating usefulness of the 17-plex STR Kit for Bosnian mountain horse genotyping and establishing highly useful microsatellite markers system for genetic diversity studies in Bosnian mountain horse breed. Genomic DNA was extracted from whole blood collected from 22 unrelated Bosnian mountain horse specimens. A total of 95 alleles were detected. Average number of detected alleles per locus was 5.588, varying from 3 (HTG7) to 10 (ASB17). Average effective number of alleles was 3.603, fluctuating from 1.789 (HMS7) to 5.728 (HMS2). The observed heterozygosity ranged from 0.136 (HMS3) to 0.909 (ASB2) with a mean of 0.631. The results indicate that the studied population originates from the appropriate number of parent generations. The mean expected heterozygosity was 0.690, varying from 0.441 (HMS7) to 0.853 (ASB17) indicating high genetic variability within Bosnian mountain horse population. The PIC values ranged from 0.409 (HMS7) to 0.837 (ASB17) with a mean of 0.643, suggesting that 94.12% markers were quite informative in terms of their suitability for genetic diversity studies .The most polymorphic locus was HMS2 and the least polymorphic locus was HMS7. The inbreeding coefficient ranged from -0.030 (HMS7) to 0.807 (HMS3) with a mean of 0.077. Inbreeding coefficient values indicated no shortage of heterozygotes in Bosnian mountain horses. Deviation from Hardy-Weinberg equilibrium (p<0,05) was found in three loci (HTG10, HMS3 and ASB17). The applied set of 17 microsatellite markers proved to be sufficiently specific for use in genotyping of Bosnian mountain horse. Considering the values of HO, HEand PIC over 0.6, five microsatellite markers system (HTG4, AHT4, AHT5, ASB2, HMS2) is considered to be highly useful for genetic diversity studies in Bosnian mountain horse breed.

Apart from its physiological role in the cellular oxidation of ethanol interesting feature of the ADH1B gene locus is its characteristic geographical distribution in which certain variants of ADH1B peak in different parts of the world.  Therefore, ADH1B rs2066701 polymorphism is exploited as a genetic marker in tracing of the evolutionary processes and human migrations in the past. Taking into consideration the complexity of population genetic structure and several migrations in the history of the Balkan populations, including Bosnian and Herzegovinian, this study aimed to estimate the frequency of ADH1B rs2066701 polymorphism in the population of Bosnia and Herzegovina. The total of 101 randomly sampled individuals was genotyped for rs2066701 polymorphism in ADH1B gene using PCR-RFLP method. The obtained frequencies were used to calculate heterozygosity, fixation indices and Hardy-Weinberg equilibrium. Observed population-structure parameters were compared with other population values available in ALFRED database. Dimensional relations between the investigated populations were visualised with the NM-MDS (non metric multidimensional scaling) analysis using PAST. The minor allele frequency for rs2066701 was 0,257. Inter-population analysis including other European and non-European populations from the ALFRED database proved the above-mentioned European genetic background of the B&H population.

Abstract This article presents a new approach to detect coiled coil and leucine zipper (L-Zip) motifs in protein sequences. The approach is based on protein scale calculation and sequence analysis. For this purpose, the wavelet-based local extrema extraction is employed, and window-based variations of local extrema afterward. This, in turn, provided a way to distinguish coiled coil subsequences and potential L-Zip motifs. The approach is validated on carefully chosen protein sequences that return inconclusive results within known frameworks for L-Zip detection, for example, 2ZIP. The results show that this new approach represents an improvement over previously presented approaches.

Incidence of breast cancer ranges from 27 per 100,000 in Middle Africa and Eastern Asia to 92 per 100,000 in Northern America. It is the fifth most common cause of death from cancer in women, with an estimated 522,000 deaths per year (6.4% of the total). Autosomal dominant inheritance of these cancers is characterized by transmission of cancer predisposition from generation to generation, with around 5-10% of all breast cancers being associated with inherited mutations in BRCA1, BRCA2 and other genes.  Breast and ovarian cancers are strongly associated with BRCA1 and BRCA2 mutations. In this study, we genotyped BRCA1 gene for large genomic rearrangements in breast and ovarian cancer patients from Bosnia and Herzegovina, with aim to assess frequency of large BRCA1 mutations (exon deletions/duplications) in this group. We collected 59 breast cancer samples, as well as other data concerning patients’ histopathological parameters of tumor, like age at diagnosis, cancer type, TNM class, cancer grade, as well as estrogen, progesterone and Her2/neu expression. Following DNA extraction from breast cancer samples (tissue after biopsy), BRCA1 mutations were identified by Multiplex Ligase - Dependent Probe Amplification (MLPA) analysis. Biostatistical analyses were conducted using MedCalc v.9.2.0.0 software. In all statistical tests p<0.05 was considered significant. Mean age at diagnosis was 54±1.75 (range 17 – 80). BRCA1 genomic rearrangements were found in 22% of breast and ovarian cancer patients. Statistically significant associations and correlations were found between BRCA1 genomic rearrangements and cancer type, estrogen, progesterone and Her2/neu expression, but not cancer grade, size, invasiveness or patients’ age