Genetics & Applications

Association of Cannabinoid-Receptor 1 Gene with Chronic Polysubstance Use among Nigerian Male Commercial Motor Vehicle Drivers

2024-04-02T10:35:02+00:00

The aim of the study was to evaluate the prevalence of psychoactive substance abuse and association of single nucleotide polymorphisms in Cannabinoid-Receptor 1 (CNR1) gene with chronic polysubstance use among the Nigerian male commercial vehicle drivers selected from the three major ethnic groups in Nigeria. A-10-Panel Generic Multi Drug Urine Dip Card Test Kit was used in the study and four SNPs (rs2023239, rs806378, rs806379 and rs806381)in CNR1 were genotyped in 60 subjects (20 drivers from each ethnic group) by using Sequenom MassARRAY Genotyping System. The four target SNPs revealed the following genotypes namely rs2023239: CC (20%), CT (40%), TT (40%); rs806378: CC (100%); rs806379: AA (20%), AT (50%), TT (30%); rs806381: AA (50%), GA (50%) in cases among the Hausa drivers. However, among the Igbo drivers, the four target SNPs showed the following genotypes namely rs2023239: CC (20%), CT (40%), TT (40%); rs806378: CC (80%) CT (20%); rs806379: AA (10%), AT (50%), TT (40%) and rs806381: AA (30%), GA (70%) in cases. Additionally, the target SNPs also revealed the following genotypes namely rs2023239: CC (30%), CT (30%), TT (40%); rs806378: CC (90%), CT (10%); rs806379: AA (10%), AT (60%), TT (30%) and rs806381: AA (70%), GA (20%), GG (10%) in cases among the Yoruba drivers. The SNPs rs2023239, rs806378 and rs806381 were significantly linked with polysubstance and chronic cannabis use in the sample population (Hausa, Igbo and Yoruba) (p˂0.05). The SNP rs806379 associated significantly with polysubstance and chronic cannabis use in the Igbo drivers only (p˂0.05). Conclusively, this study provides probably the first data on the association of CNR1genetic polymorphism with chronic polysubstance use among Nigerian male commercial motor vehicle drivers.

Genotoxic effects in the buccal cells of students exposed to season-associated increase of air pollution in Prishtina urban area: a preliminary study

2024-05-29T14:08:14+00:00

The available monitoring data from Kosovo Environmental Protection Agency show concerning levels of the air pollution in Prishtina - the capital city of Kosovo and the most populated city in the country. Due to the air pollutants emitted mostly from the heavy traffic and the coal-fired power plants located in the vicinity, the residents of urban area in Prishtina are exposed to unhealthy air. It is reported that the situation worsens during the autumn and winter months due to more frequent smog episodes. Based on the concerns raised, the aim of the study was to assess the eventual genotoxic effects of air pollution among residents of Prishtina during the autumn and winter months. For this purpose, 29 healthy female non-smoker students (aged 20-26) were involved in this preliminary study. The first sampling of buccal cells took place beginning of November 2019 whereas the second sampling took place by the end of January 2020. Buccal cell samples were analyzed for the frequency of micronuclei and the obtained data demonstrate increased genotoxicity in a sample population as an effect of the exposure to increased air pollution levels in Prishtina urban area during the autumn and winter period. On the other hand, these preliminary data clearly indicate the need for continuing with bio-monitoring studies by extending the timeframe and increasing the number of seasons under investigation.

Molecular evolutionary analysis of the SARS-CoV-2 through the mutation analysis of Spike, Envelope and RdRp proteins

2024-05-23T12:12:16+00:00

COVID-19 pandemic, caused by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), was declared in 2020 by the World Health Organization. New mutations have been identified, leading to various variants of this virus, including Alpha, Beta, Gamma, Delta, and Omicron, which are classified as variants of concern (VOCs) and have raised considerable concerns for global public health. Such constant spread and changes in the genome of the virus require continuous monitoring. This research focuses on the evolution of SARS-CoV-2 through a detailed presentation of the viral genome, protein structure and interpretation, with the presentation of phylogenetic characteristics and patterns. We obtained the sequence data from the European region focusing on the S, E, and RdRp proteins from the publicly available NCBI database. We next used the MEGA11 package to generate the multiple sequence alignments and create phylogenetic trees. The SWISS-MODEL server was connected to the Protein Data Bank to obtained tertiary structure images of all the proteins presented in the paper. Stability studies of obtained mutations were performed via MUpro online tool. The results indicate a substantial impact of the Omicron variant relative to others, particularly concerning the alterations and mutations observed in the spike (S) protein, which is crucial in the infection process.

Uncovering the Past: DNA Analysis of Skeletal Remains from the Medieval Bosnian City of Bobovac

2024-06-03T09:01:20+00:00

Numerous archaeological sites in Bosnia and Herzegovina represent a historical heritage and testify to the rich cultural, social, and political life of medieval Bosnia. Bobovac, the capital of the Bosnian Kingdom after King Tvrtko I's coronation in 1377, featured a royal complex with a palace, church, and fortification. Recent molecular-genetic research on skeletal remains from Bobovac aims to uncover medieval ancestors' customs and genetic origins. Fifteen well-preserved teeth samples from Bobovac were processed. STR amplification employed PowerPlex® Fusion and Investigator® 24plex QS Kits, with Y-STR profiles generated using the PowerPlex® Y23 System. Fourteen partial autosomal STR profiles were obtained, enabling sex determination and kinship analysis. STR amplification success varied due to ancient DNA degradation, with larger loci showing lower amplification rates. Kinship analysis confirmed appropriate marker selection, demonstrating high reliability for determining close relationships. Integrating aDNA analysis with archaeological research enhances our understanding of historical populations, connecting archaeology and forensic genetics to contribute to the broader narrative of human history.

Evaluating the Influence of the ACTN3 rs1815739 Gene Polymorphism on the Performance of Physically Active Adult Males in the Arrowhead Agility Drill Test

2024-06-11T08:31:28+00:00

The alpha actinin-3 gene (ACTN3) is a significant candidate gene among genetic markers that determine athletic ability. The ACTN3 gene is responsible for the creation of the actin protein in fast-twitch muscle fibers, which is associated with muscle power and speed. The objective of this study was to analyze the changes in performance of the arrowhead agility drill test and the distribution of genotype variants in the ACTN3 rs1815739 gene polymorphism in physically active adult males after a 6- week training period. The research will focus on a cohort of 58 male students, aged 19-24, who are enrolled in the Faculty of Sports Sciences and participate in swimming activities. Genomic DNA was extracted from swab samples obtained from participants using the Buccalyse DNA Extraction Kit from Isohelix, following the manufacturer's supplied technique. The study findings revealed that there was no statistically significant difference between all three genotypes when comparing the pre-test and post-test values of the sample group in terms of left and right foot characteristics. Within this framework, it is acknowledged that the outcomes derived from our investigation could potentially influence the research findings. These aspects include the restricted sample size and the incapacity to regulate individual variances such as concentration and motivation during the pre-test and post-test sessions. Nevertheless, it is believed that the results obtained from our study could potentially enhance future research and literary works in the same field.

Genotype diversity as a source of tolerance to drought stress in legumes

2024-05-27T12:16:30+00:00

Chickpea and lentils are one of the most important legumes not only as sources of food and nutrients but also for enrichment of soil as a nitrogen fixating crop. An early onset of higher temperatures and drought are affecting chickpea and lentil growth and flowering leading to reduction of yield. In search for a tolerant varieties presented study performed a large-scale screening of two legume varieties (chickpea and lentils) investigating phenotypical response to early onset of drought under heat stress. Under heat stress and two different irrigation conditions, 19 chickpea and 18 lentil accessions were examined. The evaluation focused on their growth, biomass production, and flowering rate in comparison to commercially available varieties. Six chickpea accessions showed tolerance to water stress while only two lentil accessions differed from the rest of tested accessions. Generally, lentils genotypes were less stressed by decreased water availability compared to chickpea. Large scale screening of legume accessions could be a valuable tool to identify new varieties that could show phenotypical traits more adaptable to climate related environmental stresses. To improve the reproductive efficiency in chickpeas and lentils under adverse conditions associated to climate change an extensive breeding effort should be focused on investigation of more tolerant genotypes and cultivation in crop systems.

DNA polymorphisms detected in MT-ATP6 and MT-ATP8 genes in the residents of Sarajevo Canton

2024-05-30T07:37:33+00:00

Human mitochondrial genes MT-ATP6 and MT-ATP8 encode the subunits 6 and 8, respectively, of ATP synthase, a vital protein Complex V intricately involved in oxidative phosphorylation and ATP metabolism. This enzyme produces ATP from ADP in the mitochondrial matrix utilizing energy provided by the proton electrochemical gradient. Pathogenic mutations within these genes have been linked to various syndromes such as NARP syndrome, Leigh syndrome, mitochondrial myopathy with reversible cytochrome C oxidase deficiency, and progressive spastic paraparesis, among others. In our investigation, we sequenced 24 complete human mitochondrial genomes of healthy adult individuals from Bosnia and Herzegovina, each representing unique maternal lineage. Employing the Illumina MiSeq NGS platform and the Nextera XT DNA library preparation protocol, we obtained raw NGS reads. Subsequent analysis utilizing SAMtools enabled the identification of genetic variants within the MT-ATP6 and MT-ATP8 genes. We identified a total of 11 SNPs, including three in MT-ATP8 and eight in MT-ATP6, with none of them being associated with any mitochondrial diseases or conditions. Our results align well with previously reported genome variation data for European populations and set the groundwork for future mtDNA analysis for clinical purposes in Bosnia and Herzegovina.