Search results for: gene pool

Authors: M. Chukhryaeva, R. Skhalyakho, J. Kagazegeva, E. Pocheshkhova, L. Yepiskopossyan, O. Balanovsky, E. Balanovska

Abstract:

The Middle East is crossroad of different populations at different times. The Kurds are of particular interest in this region. Historical sources suggested that the origin of the Kurds is associated with Medes. Therefore, it was especially interesting to compare gene pool of Kurds with other supposed descendants of Medes-Tats. Yezidis are ethno confessional group of Kurds. Yezidism as a confessional teaching was formed in the XI-XIII centuries in Iraq. Yezidism has caused reproductively isolation of Yezidis from neighboring populations for centuries. Also, isolation helps to retain Yezidian caste system. It is unknown how the history of Yezidis affected its genу pool because it has never been the object of researching. We have examined the Y-chromosome variation in Yezidis and Kurdish males to understand their gene pool. We collected DNA samples from 90 Yezidi males and 24 Kurdish males together with their pedigrees. We performed Y-STR analysis of 17 loci in the samples collected (Yfiler system from Applied Biosystems) and analysis of 42 Y-SNPs by real-time PCR. We compared our data with published data from other Kurdish groups and from European, Caucasian, and West Asian populations. We found that gene pool of Yezidis contains haplogroups common in the Middle East (J-M172(xM67,M12)- 24%, E-M35(xM78)- 9%) and in South Western Asia (R-M124- 8%) and variant with wide distribution area - R-M198(xM458- 9%). The gene pool of Kurdish has higher genetic diversity than Yezidis. Their dominants haplogroups are R-M198- 20,3 %, E-M35- 9%, J-M172- 9%. Multidimensional scaling also shows that the Kurds and Yezidis are part of the same frontier Asian cluster, which, in addition, included Armenians, Iranians, Turks, and Greeks. At the same time, the peoples of the Caucasus and Europe form isolated clusters that do not overlap with the Asian clusters. It is noteworthy that Kurds from our study gravitate towards Tats, which indicates that most likely these two populations are descendants of ancient Medes population. Multidimensional scaling also reveals similarity between gene pool of Yezidis, Kurds with Armenians and Iranians. The analysis of Yezidis pedigrees and their STR variability did not reveal a reliable connection between genetic diversity and caste system. This indicates that the Yezidis caste system is a social division and not a biological one. Thus, we showed that, despite many years of isolation, the gene pool of Yezidis retained a common layer with the gene pool of Kurds, these populations have common spectrum of haplogroups, but Yezidis have lower genetic diversity than Kurds. This study received primary support from the RSF grant No. 16-36-00122 to MC and grant No. 16-06-00364 to EP.

Keywords: gene pool, haplogroup, Kurds, SNP and STR markers, Yezidis

Procedia PDF Downloads 205

Authors: Faheem Shahzad Baloch, Muhammad Azhar Nadeem, Muhammad Amjad Nawaz, Ephrem Habyarimana, Gonul Comertpay, Tolga Karakoy, Rustu Hatipoglu, Mehmet Zahit Yeken, Vahdettin Ciftci

Abstract:

Turkey is considered a bridge between Europe, Asia, and Africa and possibly played an important role in the distribution of many crops including common bean. Hundreds of common bean landraces can be found in Turkey, particularly in farmers’ fields, and they consistently contribute to the overall production. To investigate the existing genetic diversity and hybridization events between the Andean and Mesoamerican gene pools in the Turkish common bean, 188 common bean accessions (182 landraces and 6 modern cultivars as controls) were collected from 19 different Turkish geographic regions. These accessions were characterized using phenotypic data (growth habit and seed weight), geographic provenance, 12557 high-quality whole-genome DArTseq markers, and 3767 novel DArTseq loci were also identified. The clustering algorithms resolved the Turkish common bean landrace germplasm into the two recognized gene pools, the Mesoamerican and Andean gene pools. Hybridization events were observed in both gene pools (14.36% of the accessions) but mostly in the Mesoamerican (7.97% of the accessions), and was low relative to previous European studies. The lower level of hybridization witnessed the existence of Turkish common bean germplasm in its original form as compared to Europe. Mesoamerican gene pool reflected a higher level of diversity, while the Andean gene pool was predominant (56.91% of the accessions), but genetically less diverse and phenotypically more pure, reflecting farmers greater preference for the Andean gene pool. We also found some genetically distinct landraces and overall, a meaningful level of genetic variability which can be used by the scientific community in breeding efforts to develop superior common bean strains.

Keywords: bean germplasm, DArTseq markers, genotyping by sequencing, Turkey, whole genome diversity

Procedia PDF Downloads 243

Authors: Farokh Alipour, Ali Falavand, Neda Beit Saeid

Abstract:

The calculation of the effect of accidental releases of flammable materials such as LNG requires the use of a suitable consequence model. This study is due to providing a planning advice for developments in the vicinity of LNG sites and other sites handling flammable materials. In this paper, an applicable algorithm that is able to model pool fires on water is presented and applied to estimate pool fire damage zone. This procedure can be used to model pool fires on land and could be helpful in consequence modeling and domino effect zone measurements of flammable materials which is needed in site selection and plant layout.

Keywords: LNG, pool fire, spill, radiation

Procedia PDF Downloads 402

Authors: Sibongiseni Thabethe, Ian Korir

Abstract:

The effective management of spent fuel pool (SFP) safety has been raised as one of the emerging issues to further enhance nuclear installation safety after the Fukushima accident on March 11, 2011. Before then, SFP safety-related issues have been mainly focused on (a) controlling the configuration of the fuel assemblies in the pool with no loss of pool coolants and (b) ensuring adequate pool storage space to prevent fuel criticality owing to chain reactions of the fission products and the ability for neutron absorption to keep the fuel cool. A probabilistic safety (PSA) assessment was performed using the systems analysis program for hands-on integrated reliability evaluations (SAPHIRE) computer code. Event and fault tree analysis was done to develop a PSA model for the Koeberg SFP. We present preliminary PSA results of events that lead to boiling and cause fuel uncovering, resulting in possible fuel damage in the Koeberg SFP.

Keywords: computer code, fuel assemblies, probabilistic risk assessment, spent fuel pool

Procedia PDF Downloads 169

Authors: Simiao Ren, En Wei

Abstract:

Drowning is a significant safety issue worldwide, and a robust computer vision-based alert system can easily prevent such tragedies in swimming pools. However, due to domain shift caused by the visual gap (potentially due to lighting, indoor scene change, pool floor color etc.) between the training swimming pool and the test swimming pool, the robustness of such algorithms has been questionable. The annotation cost for labeling each new swimming pool is too expensive for mass adoption of such a technique. To address this issue, we propose a domain-aware data augmentation pipeline based on Gaussian Poisson Generative Adversarial Network (GP-GAN). Combined with YOLOv8, we demonstrate that such a domain adaptation technique can significantly improve the model performance (from 0.24 mAP to 0.82 mAP) on new test scenes. As the augmentation method only require background imagery from the new domain (no annotation needed), we believe this is a promising, practical route for preventing swimming pool drowning.

Keywords: computer vision, deep learning, YOLOv8, detection, swimming pool, drowning, domain adaptation, generative adversarial network, GAN, GP-GAN

Procedia PDF Downloads 101

Authors: Yu-Chen Hu

Abstract:

Gene editing by CRISPR and gene regulation by microRNA or CRISPR activation have dramatically changed the way to manipulate cellular gene expression and cell fate. In recent years, various gene editing and gene manipulation technologies have been applied to control stem cell differentiation to enhance tissue regeneration. This research will focus on how to develop CRISPR, CRISPR activation (CRISPRa), CRISPR inhibition (CRISPRi), as well as bi-directional CRISPR-AI gene regulation technologies to control cell differentiation and bone regeneration. Moreover, in this study, CRISPR/Cas13d-mediated RNA editng for miRNA editing and bone regeneration will be discussed.

Keywords: gene therapy, bone regeneration, stem cell, CRISPR, gene regulation

Procedia PDF Downloads 90

Authors: Fadhl Alakwaa

Abstract:

One of the sustainable goals of the system biology is understanding gene-gene interactions. Hence, gene regulatory networks (GRN) need to be constructed for understanding the disease ontology and to reduce the cost of drug development. To construct gene regulatory from gene expression we need to overcome many challenges such as data denoising and dimensionality. In this paper, we develop an integrated system to reduce data dimension and remove the noise. The generated network from our system was validated via available interaction databases and was compared to previous methods. The result revealed the performance of our proposed method.

Keywords: gene regulatory network, biclustering, denoising, system biology

Procedia PDF Downloads 239

Authors: Restu Misrianti

Abstract:

The amino acid variation of Asn (allele A) at position 631 in Mx gene was specific to positive antiviral to avian viral desease. This research was aimed at identifying polymorphism of Mx gene in duck using molecular technique. Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) technique was used to select the genotype of AA, AG and GG. There were thirteen duck from Indragiri Hulu regency (Riau Province) used in this experiment. DNA amplification results showed that the Mx gene in duck is found in a 73 bp fragment. Mx gene in duck did not show any polymorphism. The frequency of the resistant allele (AA) was 0%, while the frequency of the susceptible allele (GG) was 100%.

Keywords: duck, Mx gene, PCR, RFLP

Procedia PDF Downloads 325

Authors: Yee-Ting Lee, Jyun-Rong Zhuang, Wen-Hsin Hsieh, An-Shik Yang

Abstract:

Additive manufacturing (AM) is increasingly crucial in biomedical and aerospace industries. As a recently developed AM technique, selective laser melting (SLM) has become a commercial method for various manufacturing processes. However, the molten pool configuration during SLM of metal powders is a decisive issue for the product quality. It is very important to investigate the heat transfer characteristics during the laser heating process. In this work, the finite element method (FEM) software ANSYS^® (work bench module 16.0) was used to predict the unsteady temperature distribution for resolving molten pool dimensions with consideration of temperature-dependent thermal physical properties of TiAl6V4 at different laser powers and scanning speeds. The simulated results of the temperature distributions illustrated that the ratio of laser power to scanning speed can greatly influence the size of molten pool of titanium alloy powder for SLM development.

Keywords: additive manufacturing, finite element method, molten pool dimensions, selective laser melting

Procedia PDF Downloads 286

Authors: Y. T. Ku, S. W. Chen, J. R. Wang, C. Shih, Y. F. Chang

Abstract:

In order to respond the policy decision of non-nuclear homes, Tai Power Company (TPC) will provide the decommissioning project of Kuosheng Nuclear power plant (KSNPP) to meet the regulatory requirement in near future. In this study, the computational fluid dynamics (CFD) methodology has been employed to develop a flow prediction model for boiling water reactor (BWR) with upper pool under decommissioning stage. The model can be utilized to investigate the flow behavior as the vessel combined with upper pool and continuity cooling system. At normal operating condition, different parameters are obtained for the full fluid area, including velocity, mass flow, and mixing phenomenon in the reactor pressure vessel (RPV) and upper pool. Through the efforts of the study, an integrated simulation model will be developed for flow field analysis of decommissioning KSNPP under normal operating condition. It can be expected that a basis result for future analysis application of TPC can be provide from this study.

Keywords: CFD, BWR, decommissioning, upper pool

Procedia PDF Downloads 267

Authors: Saeid Doaei

Abstract:

The various studies have examined the relationship between FTO gene expression and macronutrients levels. In order to obtain better viewpoint from this interactions, all of the existing studies were reviewed systematically. All published papers have been obtained and reviewed using standard and sensitive keywords from databases such as CINAHL, Embase, PubMed, PsycInfo, and the Cochrane, from 1990 to 2016. The results indicated that all of 6 studies that met the inclusion criteria (from a total of 428 published article) found FTO gene expression changes at short-term follow-ups. Four of six studies found an increased FTO gene expression after calorie restriction, while two of them indicated decreased FTO gene expression. The effect of protein, carbohydrate and fat were separately assessed and suggested by all of six studies. In conclusion, the level of FTO gene expression in hypothalamus is related to macronutrients levels. Future research should evaluate the long-term impact of dietary interventions.

Keywords: obesity, gene expression, FTO, macronutrients

Procedia PDF Downloads 267

Authors: Mona Heydari, Ehsan Motamedian, Seyed Abbas Shojaosadati

Abstract:

Prediction of perturbations after genetic manipulation (especially gene knockout) is one of the important challenges in systems biology. In this paper, a new algorithm is introduced that integrates microarray data into the metabolic model. The algorithm was used to study the change in the cell phenotype after knockout of Gss gene in Escherichia coli BW25113. Algorithm implementation indicated that gene deletion resulted in more activation of the metabolic network. Growth yield was more and less regulating gene were identified for mutant in comparison with the wild-type strain.

Keywords: metabolic network, gene knockout, flux balance analysis, microarray data, integration

Procedia PDF Downloads 579

Authors: Elmo Thiago Lins Cöuras Ford, Valentina Alessandra Carvalho do Vale

Abstract:

A swimming pool heating system is presented, composed of two alternative collectors with serial PVC absorber tubes that work in regimen of forced stream that is gotten through a bomb. A 500 liters reservoir was used, simulating the swimming pool, being raised some data that show the viability of the considered system. The chosen outflow was corresponding to 100 l/h. In function of the low outflow it was necessary the use of a not popular bomb, choosing the use of a low outflow alternative pumping system, using an air conditioner engine with three different rotations for the desired end. The thermal data related to each collector and their developed system will be presented. The UV and thermal degradations of the PVC exposed to solar radiation will be also boarded, demonstrating the viability of using tubes of this material as absorber elements of radiation in water heating solar collectors.

Keywords: solar energy, solar swimming pool, water heating, PVC tubes, alternative system

Procedia PDF Downloads 464

Authors: Zarini Ismail, Mas Ayu Arina Mohd Anuwar, Ling Chai Ying, Tengku Zetty Maztura Tengku Jamaluddin, Nurul Azmawati Mohamed, Nadeeya Ayn Umaisara Mohamad Nor

Abstract:

The transmission of infectious diseases can occur anywhere, including in the swimming pools. A large number of swimmers turnover and poor hygienic behaviours will increase the occurrence of direct and indirect water contamination. A wide variety of infections such as the gastrointestinal illnesses, skin rash, eye infections, ear infections and respiratory illnesses had been reported following the exposure to the contaminated water. Understanding the importance of pool hygiene with a healthy practice will reduce the risk of infection. The aims of the study are to investigate the knowledge, attitude and practices on pool hygiene among swimming pool users and to determine the microbial contaminants in swimming pools. A cross-sectional study was conducted using self-administered questionnaires to 600 swimming pool users from four swimming pools belong to the three educational institutions in Selangor. Data was analyzed using SPSS Statistics version 22.0 for Windows. The knowledge, attitude and practice of the study participants were analyzed using the sum score based on Bloom’s cut-off point (80%). Having a score above the cut-off point was classified as having high levels of knowledge, positive attitude and good practice. The association between socio-demographic characteristics, knowledge and attitude with practice on pool hygiene was determined by Chi-Square test. The physicochemical parameters and the microbial contamination were determined using a standard method for examination of waste and wastewater. Of the 600 respondents, 465 (77.5%) were females with the mean age of 21 years old. Most of the respondents are the students (98.8%) which belong to the three educational institutions in Selangor. Overall, the majority of the respondents (89.2%) had low knowledge on pool hygiene, but had positive attitudes (91.3%). Whereas only half of the respondents (50%) practice good hygiene while using the swimming pools. There was a significant association between practice level on pool hygiene with knowledge (p < 0.001) and also the attitude (p < 0.001). The measurements of the physicochemical parameters showed that all 4 swimming pools had low levels of pH and two had low levels of free chlorine. However, all the water samples tested were negative for Escherichia coli. The findings of this study suggested that high knowledge and positive attitude towards pool hygiene ensure a good practice among swimming pool users. Thus, it is recommended that educational interventions should be given to the swimming pool users to increase their knowledge regarding the pool hygiene and this will prevent the unnecessary outbreak of infectious diseases related to swimming pool.

Keywords: attitude, knowledge, pool hygiene, practice

Procedia PDF Downloads 298

Authors: J. R. Wang, H. T. Lin, Y. S. Tseng, W. Y. Li, H. C. Chen, S. W. Chen, C. Shih

Abstract:

TRACE is developed by U.S. NRC for the nuclear power plants (NPPs) safety analysis. We focus on the establishment and application of TRACE/FRAPTRAN/SNAP models for Chinshan NPP (BWR/4) spent fuel pool in this research. The geometry is 12.17 m × 7.87 m × 11.61 m for the spent fuel pool. In this study, there are three TRACE/SNAP models: one-channel, two-channel, and multi-channel TRACE/SNAP model. Additionally, the cooling system failure of the spent fuel pool was simulated and analyzed by using the above models. According to the analysis results, the peak cladding temperature response was more accurate in the multi-channel TRACE/SNAP model. The results depicted that the uncovered of the fuels occurred at 2.7 day after the cooling system failed. In order to estimate the detailed fuel rods performance, FRAPTRAN code was used in this research. According to the results of FRAPTRAN, the highest cladding temperature located on the node 21 of the fuel rod (the highest node at node 23) and the cladding burst roughly after 3.7 day.

Keywords: TRACE, FRAPTRAN, BWR, spent fuel pool

Procedia PDF Downloads 357

Authors: Mingjun Xu, Shouxiang Lu

Abstract:

Understanding the interaction mechanism between the water droplet and pool fire has an important significance in engineering application of water sprinkle/spray/mist fire suppression. The micro impact process is unclear when the droplet impacts on the burning liquid surface at present. To deepen the understanding of the mechanisms of pool fire suppression with water spray/mist, dynamic processes of single water droplet impinging onto a hot heptane surface are visualized with the aid of a high-speed digital camera at 2000 fps. Each test is repeated 20 times. The water droplet diameter is around 1.98 mm, and the impact Weber number ranges from 30 to 695. The heptane is heated by a hot plate to mimic the burning condition, and the temperature varies from 30 to 90°C. The results show that three typical phenomena, including penetration, crater-jet and surface bubble, are observed, and the pool temperature has a significant influence on the critical condition for the appearance of each phenomenon. A global picture of different phenomena is built according to impact Weber number and pool temperature. In addition, the pool temperature and Weber number have important influences on the characteristic parameters including maximum crater depth, crown height and liquid column height. For a fixed Weber number, the liquid column height increases with pool temperature.

Keywords: droplet impact, fire suppression, hot surface, water spray

Procedia PDF Downloads 243

Authors: Alhadi Bustaman, Soeganda Formalidin, Titin Siswantining

Abstract:

DNA microarray technology is used to analyze thousand gene expression data simultaneously and a very important task for drug development and test, function annotation, and cancer diagnosis. Various clustering methods have been used for analyzing gene expression data. However, when analyzing very large and heterogeneous collections of gene expression data, conventional clustering methods often cannot produce a satisfactory solution. Biclustering algorithm has been used as an alternative approach to identifying structures from gene expression data. In this paper, we introduce a transform technique based on singular value decomposition to identify normalized matrix of gene expression data followed by Mixed-Clustering algorithm and the Lift algorithm, inspired in the node-deletion and node-addition phases proposed by Cheng and Church based on Agglomerative Hierarchical Clustering (AHC). Experimental study on standard datasets demonstrated the effectiveness of the algorithm in gene expression data.

Keywords: agglomerative hierarchical clustering (AHC), biclustering, gene expression data, lymphoma, singular value decomposition (SVD)

Procedia PDF Downloads 278

Authors: Hazha Hidayat, Shayma Ibrahim

Abstract:

Folate metabolism plays a crucial role in the normal development of the neonatal central nervous system. It is regulated by MTHFR gene polymorphism. Any factors, which will affect this metabolism either by hereditary or gene mutation will lead to many mental disorders. The purpose of this study was to investigate whether MTHFR gene mutation contributes to the development of mental retardation and CP combined with mental retardation in Erbil city. DNA was isolated from the peripheral blood samples of 40 cases suffering from mental retardation (MR) and CP combined with MR were recruited, sequence the 4, 6, 7, 8 exons of the MTHFR gene were done to identify the variants. Exons were amplified by PCR technique and then sequenced according to Sanger method to show the differences with MTHFR reference sequences. We observed (14) mutations in 4, 6, 7, 8 exons in the MTHFR gene associated with Cerebral Palsy combined with mental retardation included deletion, insertion, Substitution. The current study provides additional evidence that multiple variations in the MTHFR gene are associated with mental retardation and Cerebral Palsy.

Keywords: methylenetetrahydrofolate reductase (MTHFR) gene, SNPs, homocysteine, sequencing

Procedia PDF Downloads 309

Authors: Hala Alshamlan, Ghada Badr, Yousef Alohali

Abstract:

Cancer is one of the dreadful diseases, which causes considerable death rate in humans. DNA microarray-based gene expression profiling has been emerged as an efficient technique for cancer classification, as well as for diagnosis, prognosis, and treatment purposes. In recent years, a DNA microarray technique has gained more attraction in both scientific and in industrial fields. It is important to determine the informative genes that cause cancer to improve early cancer diagnosis and to give effective chemotherapy treatment. In order to gain deep insight into the cancer classification problem, it is necessary to take a closer look at the proposed gene selection methods. We believe that they should be an integral preprocessing step for cancer classification. Furthermore, finding an accurate gene selection method is a very significant issue in a cancer classification area because it reduces the dimensionality of microarray dataset and selects informative genes. In this paper, we classify and review the state-of-art gene selection methods. We proceed by evaluating the performance of each gene selection approach based on their classification accuracy and number of informative genes. In our evaluation, we will use four benchmark microarray datasets for the cancer diagnosis (leukemia, colon, lung, and prostate). In addition, we compare the performance of gene selection method to investigate the effective gene selection method that has the ability to identify a small set of marker genes, and ensure high cancer classification accuracy. To the best of our knowledge, this is the first attempt to compare gene selection approaches for cancer classification using microarray gene expression profile.

Keywords: gene selection, feature selection, cancer classification, microarray, gene expression profile

Procedia PDF Downloads 454

Authors: Somyung Oh, Jeonghyeon Ha, Kyungwon Lee, Sejong Oh

Abstract:

Microarray is a general scheme to find differentially expressed genes for target concept. The output is expressed by heat map, and biologists analyze related terms of gene ontology to find some characteristics of differentially expressed genes. In this paper, we propose integrated visualization tool for heat map and gene ontology graph. Previous two methods are used by static manner and separated way. Proposed visualization tool integrates them and users can interactively manage it. Users may easily find and confirm related terms of gene ontology for given differentially expressed genes. Proposed tool also visualize connections between genes on heat map and gene ontology graph. We expect biologists to find new meaningful topics by proposed tool.

Keywords: heat map, gene ontology, microarray, differentially expressed gene

Procedia PDF Downloads 316

Authors: Shohei Maruyama, Yasuo Matsuyama, Sachiyo Aburatani

Abstract:

The development of the method to annotate unknown gene functions is an important task in bioinformatics. One of the approaches for the annotation is The identification of the metabolic pathway that genes are involved in. Gene expression data have been utilized for the identification, since gene expression data reflect various intracellular phenomena. However, it has been difficult to estimate the gene function with high accuracy. It is considered that the low accuracy of the estimation is caused by the difficulty of accurately measuring a gene expression. Even though they are measured under the same condition, the gene expressions will vary usually. In this study, we proposed a feature extraction method focusing on the variability of gene expressions to estimate the genes' metabolic pathway accurately. First, we estimated the distribution of each gene expression from replicate data. Next, we calculated the similarity between all gene pairs by KL divergence, which is a method for calculating the similarity between distributions. Finally, we utilized the similarity vectors as feature vectors and trained the multiclass SVM for identifying the genes' metabolic pathway. To evaluate our developed method, we applied the method to budding yeast and trained the multiclass SVM for identifying the seven metabolic pathways. As a result, the accuracy that calculated by our developed method was higher than the one that calculated from the raw gene expression data. Thus, our developed method combined with KL divergence is useful for identifying the genes' metabolic pathway.

Keywords: metabolic pathways, gene expression data, microarray, Kullback–Leibler divergence, KL divergence, support vector machines, SVM, machine learning

Procedia PDF Downloads 403

Authors: Majid Galoie, Khodadad Safavi, Abdolreza Karami Nejad, Reza Roshan

Abstract:

In this study, a comprehensive scouring model has been developed in order to evaluate the accuracy of various empirical relationships which were suggested for prediction of scour hole depth in plunge pools by Martins, Mason, Chian and Veronese. For this reason, scour hole depths caused by free falling jets from a flip bucket to a plunge pool were investigated. In this study various discharges, angles, scouring times, etc. have been considered. The final results demonstrated that the all mentioned empirical formulas, except Mason formula, were reasonably agreement with the experimental data.

Keywords: scour hole depth, plunge pool, physical model, reliability assessment

Procedia PDF Downloads 535

Authors: Rachel Matar, Maxime Merheb

Abstract:

Chemical drugs have been used for many centuries as the only way to cure diseases until the novel gene therapy has been created in 1960. Gene therapy is based on the insertion, correction, or inactivation of genes to treat people with genetic illness (1). Gene therapy has made wonders in Parkison’s, Alzheimer and multiple sclerosis. In addition to great promises in the healing of deadly diseases like many types of cancer and autoimmune diseases (2). This method implies the use of recombinant DNA technology with the help of different viral and non-viral vectors (3). It is nowadays used in somatic cells as well as embryos and gametes. Beside all the benefits of gene therapy, this technique is deemed by some opponents as an ethically unacceptable treatment as it implies playing with the genes of living organisms.

Keywords: gene therapy, genetic disease, cancer, multiple sclerosis

Procedia PDF Downloads 541

Authors: Daina Jonkus, Liga Paura, Tatjana Sjakste, Kristina Dokane

Abstract:

The aim of this study was to analyse PRKAG3 and RYR1 gene and genotypes frequencies in Latvian White pigs’ breed. Genotypes of RYR1 gene two loci (rs196953058 and rs323041392) in 89 exon and PRKAG3 gene two loci (rs196958025 and rs344045190) in gene promoter were detected in 103 individuals of Latvian white pigs’ breed. Analysis of RYR1 gene loci rs196953058 shows all individuals are homozygous by T allele and all animals are with genotypes TT, its mean - in 2769 position is Phenylalanine. Analysis of RYR1 gene loci rs323041392 shows all individuals are homozygous by G allele and all animals are with genotypes GG, its mean - in 4119 positions is Asparagine. In loci rs196953058 and rs323041392, there were no gene polymorphisms. All analysed individuals by two loci rs196953058-rs323041392 have TT-GG genotypes or Phe-Asp amino acids. In PRKAG3 gene loci rs196958025 and rs344045190 there was gene polymorphisms. In both loci frequencies for A allele was higher: 84.6% for rs196958025 and 73.0% for rs344045190. Analysis of PRKAG3 gene loci rs196958025 shows 74% of individuals are homozygous by An allele and animals are with genotypes AA. Only 4% of individuals are homozygous by G allele and animals are with genotypes GG, which is associated with pale meat colour and higher drip loss. Analysis of PRKAG3 gene loci rs344045190 shows 46% of individuals are homozygous with genotypes AA and 54% of individuals are heterozygous with genotypes AG. There are no individuals with GG genotypes. According to the results, in Latvian white pigs population there are no rs344435545 (RYR1 gene) CT heterozygous or TT recessive homozygous genotypes, which is related to the meat quality and pigs’ stress syndrome; and there are 4% rs196958025 (PRKAG3 gene) GG recessive homozygote genotypes, which is related to the meat quality. Acknowledgment: the investigation is supported by VPP 2014-2017 AgroBioRes Project No. 3 LIVESTOCK.

Keywords: genotype frequencies, pig, PRKAG3, RYR1

Procedia PDF Downloads 210

Authors: Hamid Mustafa, Adeela Ajmal, Kim EuiSoo, Noor-ul-Ain

Abstract:

World wild, buffalo production is considered as most important component of food industry. Efficient buffalo production is related with reproductive performance of this species. Lack of knowledge of reproductive efficiency and its related genes in buffalo species is a major constraint for sustainable buffalo production. In this study, we performed some bioinformatics analysis on Follicle Stimulating Hormone Receptor (FSHR) gene and explored the possible relationship of this gene among different buffalo breeds and with other farm animals. We also found the evolution pattern for this gene among these species. We investigate CDS lengths, Stop codon variation, homology search, signal peptide, isoelectic point, tertiary structure, motifs and phylogenetic tree. The results of this study indicate 4 different motif in this gene, which are Activin-recp, GS motif, STYKc Protein kinase and transmembrane. The results also indicate that this gene has very close relationship with cattle, bison, sheep and goat. Multiple alignment (MA) showed high conservation of motif which indicates constancy of this gene during evolution. The results of this study can be used and applied for better understanding of this gene for better characterization of Follicle Stimulating Hormone Receptor (FSHR) gene structure in different farm animals, which would be helpful for efficient breeding plans for animal’s production.

Keywords: buffalo, FSHR gene, bioinformatics, production

Procedia PDF Downloads 532

Authors: Shahram Nanekarania, Majid Goodarzia

Abstract:

Calpastatin and callipyge have been known as one of the candidate genes in meat quality and quantity. Calpastatin gene has been located to chromosome 5 of sheep and callipyge gene has been localized in the telomeric region on ovine chromosome 18. The objective of this study was identification of calpastatin and callipyge genes polymorphism and analysis of genotype structure in population of Lori sheep kept in Iran. Blood samples were taken from 120 Lori sheep breed and genomic DNA was extracted by salting out method. Polymorphism was identified using the PCR-RFLP technique. The PCR products were digested with MspI and FaqI restriction enzymes for calpastatin gene and callipyge gene, respectively. In this population, three patterns were observed and AA, AB, BB genotype have been identified with the 0.32, 0.63, 0.05 frequencies for calpastatin gene. The results obtained for the callipyge gene revealed that only the wild-type allele A was observed, indicating that only genotype AA was present in the population under consideration.

Keywords: polymorphism, calpastatin, callipyge, PCR-RFLP, Lori sheep

Procedia PDF Downloads 612

Authors: K. H. Reeta, Bhavana Prasher, Mitali Mukerji, Dhwani Dholakia, Sangeeta Khanna, Archana Vats, Shivam Pandey, Sandeep Seth, Subir Kumar Maulik

Abstract:

Introduction Research has demonstrated a connection between coronary artery disease (CAD) and genetics. We did a deep literature mining using both bioinformatics and manual efforts to identify the susceptible polymorphisms in coronary artery disease. Further, the study sought to validate these findings in an Asian population. Methodology In first phase, we used an automated pipeline which organizes and presents structured information on SNPs, Population and Diseases. The information was obtained by applying Natural Language Processing (NLP) techniques to approximately 28 million PubMed abstracts. To accomplish this, we utilized Python scripts to extract and curate disease-related data, filter out false positives, and categorize them into 24 hierarchical groups using named Entity Recognition (NER) algorithms. From the extensive research conducted, a total of 466 unique PubMed Identifiers (PMIDs) and 694 Single Nucleotide Polymorphisms (SNPs) related to coronary artery disease (CAD) were identified. To refine the selection process, a thorough manual examination of all the studies was carried out. Specifically, SNPs that demonstrated susceptibility to CAD and exhibited a positive Odds Ratio (OR) were selected, and a final pool of 324 SNPs was compiled. The next phase involved validating the identified SNPs in DNA samples of 96 CAD patients and 37 healthy controls from Indian population using Global Screening Array. ResultsThe results exhibited out of 324, only 108 SNPs were expressed, further 4 SNPs showed significant difference of minor allele frequency in cases and controls. These were rs187238 of IL-18 gene, rs731236 of VDR gene, rs11556218 of IL16 gene and rs5882 of CETP gene. Prior researches have reported association of these SNPs with various pathways like endothelial damage, susceptibility of vitamin D receptor (VDR) polymorphisms, and reduction of HDL-cholesterol levels, ultimately leading to the development of CAD. Among these, only rs731236 had been studied in Indian population and that too in diabetes and vitamin D deficiency. For the first time, these SNPs were reported to be associated with CAD in Indian population. Conclusion: This pool of 324 SNP s is a unique kind of resource that can help to uncover risk associations in CAD. Here, we validated in Indian population. Further, validation in different populations may offer valuable insights and contribute to the development of a screening tool and may help in enabling the implementation of primary prevention strategies targeted at the vulnerable population.

Keywords: coronary artery disease, single nucleotide polymorphism, susceptible SNP, bioinformatics

Procedia PDF Downloads 76

Authors: Luvindran Sugumaran, Mohd Nashrul Mohd Zubir, Kazi Md Salim Newaz, Tuan Zaharinie Tuan Zahari, Suazlan Mt Aznam, Aiman Mohd Halil

Abstract:

Due to the rapid advancement of integrated circuits and the increasing trend towards miniaturizing electronic devices, the amount of heat produced by electronic devices has consistently exceeded the maximum limit for heat dissipation. Currently, the two-phase cooling technique based on phase change pool boiling heat transfer has received a lot of attention because of its potential to fully utilize the latent heat of the fluid and produce a highly effective heat dissipation capacity while keeping the equipment's operating temperature within an acceptable range. There are numerous strategies available for the alteration of heating surfaces, but to find the best, simplest, and most dependable one remains a challenge. Lately, surface texturing via laser ablation has been used in a variety of investigations, demonstrating its significant potential for enhancing the pool boiling heat transfer performance. In this research, the nucleate pool boiling heat transfer performance of laser-textured copper surfaces of different patterns was investigated. The bare copper surface serves as a reference to compare the performance of laser-structured surfaces. It was observed that the heat transfer coefficients were increased with the increase of surface area ratio and the ratio of the peak-to-valley height of the microstructure. Laser machined grain structure produced extra nucleation sites, which ultimately caused the improved pool boiling performance. Due to an increase in nucleation site density and surface area, the enhanced nucleate boiling served as the primary heat transfer mechanism. The pool boiling performance of the laser-textured copper surfaces is superior to the bare copper surface in all aspects.

Keywords: heat transfer coefficient, laser texturing, micro structured surface, pool boiling

Procedia PDF Downloads 92

Authors: Chungkham Sarojnalini, Wahengbam Sarjubala Devi

Abstract:

Antioxidant properties and nutritive values of raw and cooked Pool barb, Puntius sophore (Hamilton-Buchanan) of Eastern Himalayas, India were determined. Antioxidant activity of the methanol extract of the raw, steamed, fried and curried Pool barb was evaluated by using 1,1-diphenyl-2-picrylhydrazyl (DPPH) scavenging assay. In DPPH scavenging assay the IC50 value of the raw, steamed, fried and curried Pool barb was 1.66 microgram/ml, 16.09 microgram/ml, 8.99 microgram/ml, 0.59 microgram/ml whereas the IC50 of the reference ascorbic acid was 46.66 microgram/ml. This results shows that the fish have high antioxidant activity. Protein content was found highest in raw (20.50±0.08%) and lowest in curried (18.66±0.13%). Moisture content in raw, fried and curried was 76.35±0.09, 46.27±0.14 and 57.46±0.24 respectively. Lipid content was recorded 2.46±0.14% in raw and 21.76±0.10% in curried. Ash content varies from 12.57±0.11 to 22.53±0.07%. The total aminoacids were varied from 36.79±0.02 and 288.43±0.12 mg/100 g. Eleven essential mineral elements were found abundant in all the samples. The samples had a considerable amount of Fe ranging from 152.17 to 320.39 milligram/100 gram, Ca 902.06 to 1356.02 milligram/100 gram, Zn 91.07 to 138.14 milligram/100 gram, K 193.25 to 261.56 milligram/100 gram, Mg 225.06 to 229.10 milligram/100 gram. Ni was not detected in the curried fish. The Mg and K contents were significantly decreased in frying method; however the Fe, Cu, Ca, Co and Mn content were increased significantly in all the cooked samples. The Mg and Na contents were significantly increased in curried sample and the Cr content was decreased significantly (p<0.05) in all the cooked samples.

Keywords: antioxidant property, pool barb, minerals, aminoacids, proximate composition, cooking methods

Procedia PDF Downloads 222

Authors: Luvindran Sugumaran, Mohd Nashrul Mohd Zubir, Kazi Md Salim Newaz, Tuan Zaharinie Tuan Zahari, Suazlan Mt Aznam, Aiman Mohd Halil

Abstract:

With reference to Energy Roadmap 2050, the minimization of greenhouse gas emissions and the enhancement of energy efficiency are the two key factors that could facilitate a radical change in the world's energy infrastructure. However, the energy demands of electronic devices skyrocketed with the advent of the digital age. Currently, the two-phase cooling technique based on phase change pool boiling heat transfer has received a lot of attention because of its potential to fully utilize the latent heat of the fluid and produce a highly effective heat dissipation capacity while keeping the equipment's operating temperature within an acceptable range. There are numerous strategies available for the alteration of heating surfaces, but finding the best, simplest, and most dependable one remains a challenge. Lately, surface texturing via laser ablation has been used in a variety of investigations, demonstrating its significant potential for enhancing the pool boiling heat transfer performance. In this research, the nucleate pool boiling heat transfer performance of laser-structured copper surfaces of different patterns was investigated. The bare copper surface serves as a reference to compare the performance of laser-structured surfaces. It was observed that the heat transfer coefficients were increased with the increase of surface area ratio and the ratio of the peak-to-valley height of the microstructure. Laser machined grain structure produced extra nucleation sites, which ultimately caused the improved pool boiling performance. Due to an increase in nucleation site density and surface area, the enhanced nucleate boiling served as the primary heat transfer mechanism. The pool boiling performance of the laser-structured copper surfaces is superior to the bare copper surface in all aspects.

Keywords: heat transfer coefficient, laser structuring, micro structured surface, pool boiling

Procedia PDF Downloads 83