In breast cancer, the genetic profiling of circulating cell-free DNA (cfDNA) from blood plasma was shown to have good potential for clinical use. In contrast, only a few studies were performed investigating urinary cfDNA. In this pilot study, we analyzed plasma-derived and matching urinary cfDNA samples obtained from 15 presurgical triple-negative breast cancer patients. We used a targeted next-generation sequencing approach to identify and compare genetic alterations in both body fluids. The cfDNA concentration was higher in urine compared to plasma, but there was no significant correlation between matched samples. Bioinformatical analysis revealed a total of 3339 somatic breast-cancer-related variants (VAF ≥ 3%), whereof 1222 vs. 2117 variants were found in plasma-derived vs. urinary cfDNA, respectively. Further, 431 shared variants were found in both body fluids. Throughout the cohort, the recovery rate of plasma-derived mutations in matching urinary cfDNA was 47% and even 63% for pathogenic variants only. The most frequently occurring pathogenic and likely pathogenic mutated genes were NF1, CHEK2, KMT2C and PTEN in both body fluids. Notably, a pathogenic CHEK2 (T519M) variant was found in all 30 samples. Taken together, our results indicated that body fluids appear to be valuable sources bearing complementary information regarding the genetic tumor profile.
The guanine rich locations are present in human genome. Previous studies have shown that the presence of G rich sequences and
motifs may be significant for gene activity and function. We decided to focus our interest to identify G rich motifs in promoters of
oncogenes and tumor suppressor genes. We used a set of 100 most common oncogenes and tumor suppressor genes (TSG) for this
analysis. We collected 600nt long promoters with -500 and +100 TSS (transcription start site) from the oncogenes and TSG set.
Using a computer program, we calculated the G densities using numbers and locations of G forms with 100nt moving widow. We
included G numbers from 2 to 7 guanines. Analysis shows that G density increases from -500 to +100 and more from TSS. G density
is found to be maximum within -/+100 of TSS. The results of G densities were compared with the expression data of the selected
oncogenes and tumor suppressor genes in patients with colon cancer (n=174).
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.
Making science enjoyable inspires students to learn more. Out-of-class activities such as science fairs and Olympiads, serve as reasonable informal learning environments that demand attention. The association of students’ involvement in these activities with increased student interest in science followed by the selection of science-related careers, should motivate all in-charge stakeholders. In this work, we analysed the outcomes of the Bosnia Science Olympiad (BSO) as the first national Science Olympiad in Bosnia and Herzegovina (BiH), aiming the improvement of science education and bringing different ethnic groups under the umbrella of science, in a post-conflict area. The two-day endeavour held in Sarajevo includes competition in four science-related categories (Environment, Engineering, Have an Idea, Web Design) and social activities. In this work, the comprehensive data, including participants’ gender, their ethnic background, cities, schools, and supervisors, over five years, was analysed. The number of participating high-school students increased from 78 to 143, of supervisors from 21 to 95, and of schools from 7 to 15, reaching a wide demographic acceptance to cover all ethnic regions in BiH. The relationship between gender and the selection of a category, shows bias of male participants towards Web Design (21%) and Engineering (40%), and of female students towards “Have an Idea” (40%) and Environment (44%) categories. The contribution of BSO choosing a science career, getting socialized without prejudices, and the improvement of students’ self-confidence, were as well addressed. Our work demonstrates a model work to successfully promote science in post-conflict settings.
Hemoglobin is a unique protein, which is responsible for oxygen and carbon dioxide transportation all the body. The protein location is inside the erythrocytes and the special oval shape makes it easily pass through blood walls to supply oxygen to the tissues and organs. It is supposed that the hemoglobin amount could change depending on the person`s age, gender or nationality. We designed a research to see the molecular differences among Bosnian and Turkish young person`s whose age interval is 18-23 and old person`s age interval is 43-65. Totally 300 person`s, 50 from each Bosnian/ Turkish Female/Male and 50 old male and 50 old female were selected for the research. The students` the hemoglobin amount has been recorded individually and presented in a table. As a result of the measurement, The Turkish females average has the lowest hemoglobin Turkish males average shows the maximum amount of hemoglobin, 12.01 g/dl and 14.65 g/dl respectively. When the female gets older their the hemoglobin amount increase in their blood, 7.3% in Bosnian and 12.2% in Turkish. On the other side, the male blood the hemoglobin amount is almost similar by aging, Bosnian male hemoglobin just increase 0.74%, but in Turkish male 1.3% decrease. The result shows that female the hemoglobin amount is affected by age more than male.
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