Search results for: genetic analysis
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 27972

Search results for: genetic analysis

27432 Association of ApoB, CETP and GALNT2 Genetic Variants with Type 2 Diabetes-Related Traits in Population from Bosnia and Herzegovina

Authors: Anida Causevic-Ramosevac, Sabina Semiz

Abstract:

The aim of this study was to investigate the association of four single nucleotide polymorphisms (SNPs) - rs673548, rs693 in ApoB gene, rs1800775 in CETP gene and rs4846914 in GALNT2 gene with parameters of type 2 diabetes (T2D) and diabetic dyslipidemia in the population of Bosnia and Herzegovina (BH). Materials and methods: Our study involved 352 patients with T2D and 156 healthy subjects. Biochemical and anthropometric parameters were measured in all participants. DNA was extracted from the peripheral blood for the purpose of genetic testing. Polymorphisms in ApoB (rs673548, rs693), CETP (rs1800775) and GALNT2 (rs4846914) genes were analyzed by using Sequenom IPLEX platform. Results: Our results demonstrated significant associations for rs180075 polymorphism in CETP gene with levels of fasting insulin (p = 0.020; p = 0.027; p = 0.044), triglycerides (p = 0.046) and ALT (p = 0.031) activity in control group. In group of diabetic patients, results showed a significant association of rs673548 in ApoB gene with levels of fasting insulin (p = 0.008), HOMA-IR (p = 0.013), VLDL-C (p = 0.037) and CRP (p = 0.029) and rs693 in ApoB gene with BMI (p = 0.025), systolic blood pressure (p = 0.027), fasting insulin (p = 0.037) and HOMA-IR (p = 0.023) levels. Significant associations were also observed for rs1800775 in CETP gene with triglyceride (p = 0.023) levels and rs4846914 in GALNT2 gene with HbA1C (p = 0.013) and triglyceride (p = 0.043) levels. Conclusion: In conclusion, this is the first study that examined the impact of variations of candidate genes on a wide range of metabolic parameters in BH population. Our results suggest an association of variations of ApoB, CETP and GALNT2 genes with specific markers of T2D and dyslipidemia. Further studies would be needed in order to confirm these genetic effects in other ethnic groups as well.

Keywords: ApoB, CETP, dyslipidemia, GALNT2, type 2 diabetes

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27431 A Comparative Study of k-NN and MLP-NN Classifiers Using GA-kNN Based Feature Selection Method for Wood Recognition System

Authors: Uswah Khairuddin, Rubiyah Yusof, Nenny Ruthfalydia Rosli

Abstract:

This paper presents a comparative study between k-Nearest Neighbour (k-NN) and Multi-Layer Perceptron Neural Network (MLP-NN) classifier using Genetic Algorithm (GA) as feature selector for wood recognition system. The features have been extracted from the images using Grey Level Co-Occurrence Matrix (GLCM). The use of GA based feature selection is mainly to ensure that the database used for training the features for the wood species pattern classifier consists of only optimized features. The feature selection process is aimed at selecting only the most discriminating features of the wood species to reduce the confusion for the pattern classifier. This feature selection approach maintains the ‘good’ features that minimizes the inter-class distance and maximizes the intra-class distance. Wrapper GA is used with k-NN classifier as fitness evaluator (GA-kNN). The results shows that k-NN is the best choice of classifier because it uses a very simple distance calculation algorithm and classification tasks can be done in a short time with good classification accuracy.

Keywords: feature selection, genetic algorithm, optimization, wood recognition system

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27430 Evolving Credit Scoring Models using Genetic Programming and Language Integrated Query Expression Trees

Authors: Alexandru-Ion Marinescu

Abstract:

There exist a plethora of methods in the scientific literature which tackle the well-established task of credit score evaluation. In its most abstract form, a credit scoring algorithm takes as input several credit applicant properties, such as age, marital status, employment status, loan duration, etc. and must output a binary response variable (i.e. “GOOD” or “BAD”) stating whether the client is susceptible to payment return delays. Data imbalance is a common occurrence among financial institution databases, with the majority being classified as “GOOD” clients (clients that respect the loan return calendar) alongside a small percentage of “BAD” clients. But it is the “BAD” clients we are interested in since accurately predicting their behavior is crucial in preventing unwanted loss for loan providers. We add to this whole context the constraint that the algorithm must yield an actual, tractable mathematical formula, which is friendlier towards financial analysts. To this end, we have turned to genetic algorithms and genetic programming, aiming to evolve actual mathematical expressions using specially tailored mutation and crossover operators. As far as data representation is concerned, we employ a very flexible mechanism – LINQ expression trees, readily available in the C# programming language, enabling us to construct executable pieces of code at runtime. As the title implies, they model trees, with intermediate nodes being operators (addition, subtraction, multiplication, division) or mathematical functions (sin, cos, abs, round, etc.) and leaf nodes storing either constants or variables. There is a one-to-one correspondence between the client properties and the formula variables. The mutation and crossover operators work on a flattened version of the tree, obtained via a pre-order traversal. A consequence of our chosen technique is that we can identify and discard client properties which do not take part in the final score evaluation, effectively acting as a dimensionality reduction scheme. We compare ourselves with state of the art approaches, such as support vector machines, Bayesian networks, and extreme learning machines, to name a few. The data sets we benchmark against amount to a total of 8, of which we mention the well-known Australian credit and German credit data sets, and the performance indicators are the following: percentage correctly classified, area under curve, partial Gini index, H-measure, Brier score and Kolmogorov-Smirnov statistic, respectively. Finally, we obtain encouraging results, which, although placing us in the lower half of the hierarchy, drive us to further refine the algorithm.

Keywords: expression trees, financial credit scoring, genetic algorithm, genetic programming, symbolic evolution

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27429 An Evolutionary Multi-Objective Optimization for Airport Gate Assignment Problem

Authors: Seyedmirsajad Mokhtarimousavi, Danial Talebi, Hamidreza Asgari

Abstract:

Gate Assignment Problem (GAP) is one of the most substantial issues in airport operation. In principle, GAP intends to maintain the maximum capacity of the airport through the best possible allocation of the resources (gates) in order to reach the optimum outcome. The problem involves a wide range of dependent and independent resources and their limitations, which add to the complexity of GAP from both theoretical and practical perspective. In this study, GAP was mathematically formulated as a three-objective problem. The preliminary goal of multi-objective formulation was to address a higher number of objectives that can be simultaneously optimized and therefore increase the practical efficiency of the final solution. The problem is solved by applying the second version of Non-dominated Sorting Genetic Algorithm (NSGA-II). Results showed that the proposed mathematical model could address most of major criteria in the decision-making process in airport management in terms of minimizing both airport/airline cost and passenger walking distance time. Moreover, the proposed approach could properly find acceptable possible answers.

Keywords: airport management, gate assignment problem, mathematical modeling, genetic algorithm, NSGA-II

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27428 A Versatile Algorithm to Propose Optimized Solutions to the Dengue Disease Problem

Authors: Fernando L. P. Santos, Luiz G. Lyra, Helenice O. Florentino, Daniela R. Cantane

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Dengue is a febrile infectious disease caused by a virus of the family Flaviridae. It is transmitted by the bite of mosquitoes, usually of the genus Aedes aegypti. It occurs in tropical and subtropical areas of the world. This disease has been a major public health problem worldwide, especially in tropical countries such as Brazil, and its incidence has increased in recent years. Dengue is a subject of intense research. Efficient forms of mosquito control must be considered. In this work, the mono-objective optimal control problem was solved for analysing the dengue disease problem. Chemical and biological controls were considered in the mathematical aspect. This model describes the dynamics of mosquitoes in water and winged phases. We applied the genetic algorithms (GA) to obtain optimal strategies for the control of dengue. Numerical simulations have been performed to verify the versatility and the applicability of this algorithm. On the basis of the present results we may recommend the GA to solve optimal control problem with a large region of feasibility.

Keywords: genetic algorithm, dengue, Aedes aegypti, biological control, chemical control

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27427 Combining Chiller and Variable Frequency Drives

Authors: Nasir Khalid, S. Thirumalaichelvam

Abstract:

In most buildings, according to US Department of Energy Data Book, the electrical consumption attributable to centralized heating and ventilation of air- condition (HVAC) component can be as high as 40-60% of the total electricity consumption for an entire building. To provide efficient energy management for the market today, researchers are finding new ways to develop a system that can save electrical consumption of buildings even more. In this concept paper, a system known as Intelligent Chiller Energy Efficiency (iCEE) System is being developed that is capable of saving up to 25% from the chiller’s existing electrical energy consumption. In variable frequency drives (VFDs), research has found significant savings up to 30% of electrical energy consumption. Together with the VFDs at specific Air Handling Unit (AHU) of HVAC component, this system will save even more electrical energy consumption. The iCEE System is compatible with any make, model or age of centrifugal, rotary or reciprocating chiller air-conditioning systems which are electrically driven. The iCEE system uses engineering principles of efficiency analysis, enthalpy analysis, heat transfer, mathematical prediction, modified genetic algorithm, psychometrics analysis, and optimization formulation to achieve true and tangible energy savings for consumers.

Keywords: variable frequency drives, adjustable speed drives, ac drives, chiller energy system

Procedia PDF Downloads 537
27426 Effect of Non-Genetic Factors and Heritability Estimate of Some Productive and Reproductive Traits of Holstein Cows in Middle of Iraq

Authors: Salim Omar Raoof

Abstract:

This study was conducted at the Al-Salam cows’ station for milk production located in Al-Latifiya district - Al-Mahmudiyah district (25 km south of Baghdad governorate) on a sample of (180) Holstein cows imported from Germany by Taj Al-Nahrain company in order to study the effect of the sequence, season and calving year on Total Milk Production (TMP). The lactation period (LP), calving interval, Services per conception and the estimate of the heritability of the studied traits. The results showed that the overall mean of TMP and LP were 3172.53 kg and 237.09-day respectively. The parity effect on TMP in Holstein cows was highly significant (P≤0.01). Total Milk production increased with the advance of parity and mostly reached its maximum value in the 4th and 3rd parity being 3305.87 kg and3286.35 kg per day, respectively. Season of calving has a highly significant (P≤0.01), effect on (TMP). Cows calved in spring had a highest milk production than those calved in other seasons. Season of calving had a highly significant (P≤0.01) effect on services per conception. The result of the study showed the heritability values for TMP, LP, SPC and CL were 0.21, 0.08, 0.08 and 0.07, respectively.

Keywords: cows, non genetic, milk production, heritability

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27425 Optimization of Machining Parametric Study on Electrical Discharge Machining

Authors: Rakesh Prajapati, Purvik Patel, Hardik Patel

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Productivity and quality are two important aspects that have become great concerns in today’s competitive global market. Every production/manufacturing unit mainly focuses on these areas in relation to the process, as well as the product developed. The electrical discharge machining (EDM) process, even now it is an experience process, wherein the selected parameters are still often far from the maximum, and at the same time selecting optimization parameters is costly and time consuming. Material Removal Rate (MRR) during the process has been considered as a productivity estimate with the aim to maximize it, with an intention of minimizing surface roughness taken as most important output parameter. These two opposites in nature requirements have been simultaneously satisfied by selecting an optimal process environment (optimal parameter setting). Objective function is obtained by Regression Analysis and Analysis of Variance. Then objective function is optimized using Genetic Algorithm technique. The model is shown to be effective; MRR and Surface Roughness improved using optimized machining parameters.

Keywords: MMR, TWR, OC, DOE, ANOVA, minitab

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27424 Optimal Design of Composite Patch for a Cracked Pipe by Utilizing Genetic Algorithm and Finite Element Method

Authors: Mahdi Fakoor, Seyed Mohammad Navid Ghoreishi

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Composite patching is a common way for reinforcing the cracked pipes and cylinders. The effects of composite patch reinforcement on fracture parameters of a cracked pipe depend on a variety of parameters such as number of layers, angle, thickness, and material of each layer. Therefore, stacking sequence optimization of composite patch becomes crucial for the applications of cracked pipes. In this study, in order to obtain the optimal stacking sequence for a composite patch that has minimum weight and maximum resistance in propagation of cracks, a coupled Multi-Objective Genetic Algorithm (MOGA) and Finite Element Method (FEM) process is proposed. This optimization process has done for longitudinal and transverse semi-elliptical cracks and optimal stacking sequences and Pareto’s front for each kind of cracks are presented. The proposed algorithm is validated against collected results from the existing literature.

Keywords: multi objective optimization, pareto front, composite patch, cracked pipe

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27423 Executive Function in Youth With ADHD and ASD: A Systematic Review and Meta-analysis

Authors: Parker Townes, Prabdeep Panesar, Chunlin Liu, Soo Youn Lee, Dan Devoe, Paul D. Arnold, Jennifer Crosbie, Russell Schachar

Abstract:

Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are impairing childhood neurodevelopmental disorders with problems in executive functions. Executive functions are higher-level mental processes essential for daily functioning and goal attainment. There is genetic and neural overlap between ADHD and ASD. The aim of this meta-analysis was to evaluate if pediatric ASD and ADHD have distinct executive function profiles. This review was completed following Cochrane guidelines. Fifty-eight articles were identified through database searching, followed by a blinded screening in duplicate. A meta-analysis was performed for all task performance metrics evaluated by at least two articles. Forty-five metrics from 24 individual tasks underwent analysis. No differences were found between youth with ASD and ADHD in any domain under direct comparison. However, individuals with ASD and ADHD exhibited deficient attention, flexibility, visuospatial abilities, working memory, processing speed, and response inhibition compared to controls. No deficits in planning were noted in either disorder. Only 11 studies included a group with comorbid ASD+ADHD, making it difficult to determine whether common executive function deficits are a function of comorbidity. Further research is needed to determine if comorbidity accounts for the apparent commonality in executive function between ASD and ADHD.

Keywords: autism spectrum disorder, ADHD, neurocognition, executive function, youth

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27422 Effect of Non-Genetic Factors and Heritability Estimate of Some Productive and Reproductive Traits of Holstein Cows in Middle of Iraq

Authors: Salim Omar Raoof

Abstract:

This study was conducted at the Al-Salam cows’ station for milk production located in Al-Latifiya district - Al-Mahmudiyah district (25 km south of Baghdad governorate) on a sample of (180) Holstein cows imported from Germany by Taj Al-Nahrain company, in order to study the effect of the sequence, season and calving year on Total Milk Production (TMP). the lactation period (LP), calving interval, Services per conception and the estimate the heritability of the studied traits. The results showed that the overall mean of TMP and LP were 3172.53 kg and237.09-day respectively. The parity effect on TMP in Holstein cows was highly significant (P≤0.01). total Milk production increased with the advanced of parity and mostly reached its maximum value in the 4th and 3rd parity being 3305.87 kg and3286.35 kg per day, respectively. Season of calving has a highly significant (P≤0.01) effect on (TMP). Cows calved in spring had a highest milk production than that calved in other seasons. Season of calving had highly significant (P≤0.01) effect on services per conception. The result of the study showed the heritability value for TMP, LP, SPC and CL were 0.21 ,0.08 ,0.08 and 0.07 respectively.

Keywords: Holstein, cows, milk production, non-genetic, hertability

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27421 Spectrum Allocation in Cognitive Radio Using Monarch Butterfly Optimization

Authors: Avantika Vats, Kushal Thakur

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This paper displays the point at issue, improvement, and utilization of a Monarch Butterfly Optimization (MBO) rather than a Genetic Algorithm (GA) in cognitive radio for the channel portion. This approach offers a satisfactory approach to get the accessible range of both the users, i.e., primary users (PUs) and secondary users (SUs). The proposed enhancement procedure depends on a nature-inspired metaheuristic algorithm. In MBO, all the monarch butterfly individuals are located in two distinct lands, viz. Southern Canada and the northern USA (land 1), and Mexico (Land 2). The positions of the monarch butterflies are modernizing in two ways. At first, the offsprings are generated (position updating) by the migration operator and can be adjusted by the migration ratio. It is trailed by tuning the positions for different butterflies by the methods for the butterfly adjusting operator. To keep the population unaltered and minimize fitness evaluations, the aggregate of the recently produced butterflies in these two ways stays equivalent to the first population. The outcomes obviously display the capacity of the MBO technique towards finding the upgraded work values on issues regarding the genetic algorithm.

Keywords: cognitive radio, channel allocation, monarch butterfly optimization, evolutionary, computation

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27420 Grey Wolf Optimization Technique for Predictive Analysis of Products in E-Commerce: An Adaptive Approach

Authors: Shital Suresh Borse, Vijayalaxmi Kadroli

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E-commerce industries nowadays implement the latest AI, ML Techniques to improve their own performance and prediction accuracy. This helps to gain a huge profit from the online market. Ant Colony Optimization, Genetic algorithm, Particle Swarm Optimization, Neural Network & GWO help many e-commerce industries for up-gradation of their predictive performance. These algorithms are providing optimum results in various applications, such as stock price prediction, prediction of drug-target interaction & user ratings of similar products in e-commerce sites, etc. In this study, customer reviews will play an important role in prediction analysis. People showing much interest in buying a lot of services& products suggested by other customers. This ultimately increases net profit. In this work, a convolution neural network (CNN) is proposed which further is useful to optimize the prediction accuracy of an e-commerce website. This method shows that CNN is used to optimize hyperparameters of GWO algorithm using an appropriate coding scheme. Accurate model results are verified by comparing them to PSO results whose hyperparameters have been optimized by CNN in Amazon's customer review dataset. Here, experimental outcome proves that this proposed system using the GWO algorithm achieves superior execution in terms of accuracy, precision, recovery, etc. in prediction analysis compared to the existing systems.

Keywords: prediction analysis, e-commerce, machine learning, grey wolf optimization, particle swarm optimization, CNN

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27419 Genetic Programming: Principles, Applications and Opportunities for Hydrological Modelling

Authors: Oluwaseun K. Oyebode, Josiah A. Adeyemo

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Hydrological modelling plays a crucial role in the planning and management of water resources, most especially in water stressed regions where the need to effectively manage the available water resources is of critical importance. However, due to the complex, nonlinear and dynamic behaviour of hydro-climatic interactions, achieving reliable modelling of water resource systems and accurate projection of hydrological parameters are extremely challenging. Although a significant number of modelling techniques (process-based and data-driven) have been developed and adopted in that regard, the field of hydrological modelling is still considered as one that has sluggishly progressed over the past decades. This is majorly as a result of the identification of some degree of uncertainty in the methodologies and results of techniques adopted. In recent times, evolutionary computation (EC) techniques have been developed and introduced in response to the search for efficient and reliable means of providing accurate solutions to hydrological related problems. This paper presents a comprehensive review of the underlying principles, methodological needs and applications of a promising evolutionary computation modelling technique – genetic programming (GP). It examines the specific characteristics of the technique which makes it suitable to solving hydrological modelling problems. It discusses the opportunities inherent in the application of GP in water related-studies such as rainfall estimation, rainfall-runoff modelling, streamflow forecasting, sediment transport modelling, water quality modelling and groundwater modelling among others. Furthermore, the means by which such opportunities could be harnessed in the near future are discussed. In all, a case for total embracement of GP and its variants in hydrological modelling studies is made so as to put in place strategies that would translate into achieving meaningful progress as it relates to modelling of water resource systems, and also positively influence decision-making by relevant stakeholders.

Keywords: computational modelling, evolutionary algorithms, genetic programming, hydrological modelling

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27418 Integrative Omics-Portrayal Disentangles Molecular Heterogeneity and Progression Mechanisms of Cancer

Authors: Binder Hans

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Cancer is no longer seen as solely a genetic disease where genetic defects such as mutations and copy number variations affect gene regulation and eventually lead to aberrant cell functioning which can be monitored by transcriptome analysis. It has become obvious that epigenetic alterations represent a further important layer of (de-)regulation of gene activity. For example, aberrant DNA methylation is a hallmark of many cancer types, and methylation patterns were successfully used to subtype cancer heterogeneity. Hence, unraveling the interplay between different omics levels such as genome, transcriptome and epigenome is inevitable for a mechanistic understanding of molecular deregulation causing complex diseases such as cancer. This objective requires powerful downstream integrative bioinformatics methods as an essential prerequisite to discover the whole genome mutational, transcriptome and epigenome landscapes of cancer specimen and to discover cancer genesis, progression and heterogeneity. Basic challenges and tasks arise ‘beyond sequencing’ because of the big size of the data, their complexity, the need to search for hidden structures in the data, for knowledge mining to discover biological function and also systems biology conceptual models to deduce developmental interrelations between different cancer states. These tasks are tightly related to cancer biology as an (epi-)genetic disease giving rise to aberrant genomic regulation under micro-environmental control and clonal evolution which leads to heterogeneous cellular states. Machine learning algorithms such as self organizing maps (SOM) represent one interesting option to tackle these bioinformatics tasks. The SOMmethod enables recognizing complex patterns in large-scale data generated by highthroughput omics technologies. It portrays molecular phenotypes by generating individualized, easy to interpret images of the data landscape in combination with comprehensive analysis options. Our image-based, reductionist machine learning methods provide one interesting perspective how to deal with massive data in the discovery of complex diseases, gliomas, melanomas and colon cancer on molecular level. As an important new challenge, we address the combined portrayal of different omics data such as genome-wide genomic, transcriptomic and methylomic ones. The integrative-omics portrayal approach is based on the joint training of the data and it provides separate personalized data portraits for each patient and data type which can be analyzed by visual inspection as one option. The new method enables an integrative genome-wide view on the omics data types and the underlying regulatory modes. It is applied to high and low-grade gliomas and to melanomas where it disentangles transversal and longitudinal molecular heterogeneity in terms of distinct molecular subtypes and progression paths with prognostic impact.

Keywords: integrative bioinformatics, machine learning, molecular mechanisms of cancer, gliomas and melanomas

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27417 Prediction of the Solubility of Benzoic Acid in Supercritical CO2 Using the PC-SAFT EoS

Authors: Hamidreza Bagheri, Alireza Shariati

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There are many difficulties in the purification of raw components and products. However, researchers are seeking better ways for purification. One of the recent methods is extraction using supercritical fluids. In this study, the phase equilibria of benzoic acid-supercritical carbon dioxide system were investigated. Regarding the phase equilibria of this system, the modeling of solid-supercritical fluid behavior was performed using the Perturbed-Chain Statistical Association Fluid Theory (PC-SAFT) and Peng-Robinson equations of state (PR EoS). For this purpose, five PC-SAFT EoS parameters for pure benzoic acid were obtained using its experimental vapor pressure. Benzoic acid has association sites and the behavior of the benzoic acid-supercritical fluid system was well-predicted using both equations of state, while the binary interaction parameter values for PR EoS were negative. Genetic algorithm, which is one of the most accurate global optimization algorithms, was also used to optimize the pure benzoic acid parameters and the binary interaction parameters. The AAD% value for the PC-SAFT EoS, were 0.22 for the carbon dioxide-benzoic acid system.

Keywords: supercritical fluids, solubility, solid, PC-SAFT EoS, genetic algorithm

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27416 Role of Toll Like Receptor-2 in Female Genital Tuberculosis Disease Infection and Its Severity

Authors: Swati Gautam, Salman Akhtar, S. P. Jaiswar, Amita Jain

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Background: FGTB is now a major global health problem mostly in developing countries including India. In humans, Mycobacterium Tuberculosis (M.tb) is a causating agent of infection. High index of suspicion is required for early diagnosis due to asymptomatic presentation of FGTB disease. In macrophages Toll Like Receptor-2 (TLR-2) is one which mediated host’s immune response to M.tb. The expression of TLR-2 on macrophages is important to determine the fate of innate immune responses to M.tb. TLR-2 have two work. First its high expression on macrophages worsen the outer of infection and another side, it maintains M.tb to its dormant stage avoids activation of M.tb from latent phase. Single Nucleotide Polymorphism (SNP) of TLR-2 gene plays an important role in susceptibility to TB among different populations and subsequently, in the development of infertility. Methodology: This Case-Control study was done in the Department of Obs and Gynae and Department of Microbiology at King George’s Medical University, U.P, Lucknow, India. Total 300 subjects (150 Cases and 150 Controls) were enrolled in the study. All subjects were enrolled only after fulfilling the given inclusion and exclusion criteria. Inclusion criteria: Age 20-35 years, menstrual-irregularities, positive on Acid-Fast Bacilli (AFB), TB-PCR, (LJ/MGIT) culture in Endometrial Aspiration (EA). Exclusion criteria: Koch’s active, on ATT, PCOS, and Endometriosis fibroid women, positive on Gonococal and Chlamydia. Blood samples were collected in EDTA tubes from cases and healthy control women (HCW) and genomic DNA extraction was carried out by salting-out method. Genotyping of TLR2 genetic variants (Arg753Gln and Arg677Trp) were performed by using single amplification refractory mutation system (ARMS) PCR technique. PCR products were analyzed by electrophoresis on 1.2% agarose gel and visualized by gel-doc. Statistical analysis of the data was performed using the SPSS 16.3 software and computing odds ratio (OR) with 95% CI. Linkage Disequiliribium (LD) analysis was done by SNP stats online software. Results: In TLR-2 (Arg753Gln) polymorphism significant risk of FGTB observed with GG homozygous mutant genotype (OR=13, CI=0.71-237.7, p=0.05), AG heterozygous mutant genotype (OR=13.7, CI=0.76-248.06, p=0.03) however, G allele (OR=1.09, CI=0.78-1.52, p=0.67) individually was not associated with FGTB. In TLR-2 (Arg677Trp) polymorphism a significant risk of FGTB observed with TT homozygous mutant genotype (OR= 0.020, CI=0.001-0.341, p < 0.001), CT heterozygous mutant genotype (OR=0.53, CI=0.33-0.86, p=0.014) and T allele (OR=0.463, CI=0.32-0.66, p < 0.001). TT mutant genotype was only found in FGTB cases and frequency of CT heterozygous more in control group as compared to FGTB group. So, CT genotype worked as protective mutation for FGTB susceptibility group. In haplotype analysis of TLR-2 genetic variants, four possible combinations, i.e. (G-T, A-C, G-C, and A-T) were obtained. The frequency of haplotype A-C was significantly higher in FGTB cases (0.32). Control group did not show A-C haplotype and only found in FGTB cases. Conclusion: In conclusion, study showed a significant association with both genetic variants of TLR-2 of FGTB disease. Moreover, the presence of specific associated genotype/alleles suggest the possibility of disease severity and clinical approach aimed to prevent extensive damage by disease and also helpful for early detection of disease.

Keywords: ARMS, EDTA, FGTB, TLR

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27415 Exploring Simple Sequence Repeats within Conserved microRNA Precursors Identified from Tea Expressed Sequence Tag (EST) Database

Authors: Anjan Hazra, Nirjhar Dasgupta, Chandan Sengupta, Sauren Das

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Tea (Camellia sinensis) has received substantial attention from the scientific world time to time, not only for its commercial importance, but also for its demand to the health-conscious people across the world for its extensive use as potential sources of antioxidant supplement. These health-benefit traits primarily rely on some regulatory networks of different metabolic pathways. Development of microsatellite markers from the conserved genomic regions is being worthwhile for studying the genetic diversity of closely related species or self-pollinated species. Although several SSR markers have been reported, in tea the trait-specific Simple Sequence Repeats (SSRs) are yet to be identified, which can be used for marker assisted breeding technique. MicroRNAs are endogenous, noncoding, short RNAs directly involved in regulating gene expressions at the post-transcriptional level. It has been found that diversity in miRNA gene interferes the formation of its characteristic hair pin structure and the subsequent function. In the present study, the precursors of small regulatory RNAs (microRNAs) has been fished out from tea Expressed Sequence Tag (EST) database. Furthermore, the simple sequence repeat motifs within the putative miRNA precursor genes are also identified in order to experimentally validate their existence and function. It is already known that genic-SSR markers are very adept and breeder-friendly source for genetic diversity analysis. So, the potential outcome of this in-silico study would provide some novel clues in understanding the miRNA-triggered polymorphic genic expression controlling specific metabolic pathways, accountable for tea quality.

Keywords: micro RNA, simple sequence repeats, tea quality, trait specific marker

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27414 A Bio-Inspired Approach for Self-Managing Wireless Sensor and Actor Networks

Authors: Lyamine Guezouli, Kamel Barka, Zineb Seghir

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Wireless sensor and actor networks (WSANs) present a research challenge for different practice areas. Researchers are trying to optimize the use of such networks through their research work. This optimization is done on certain criteria, such as improving energy efficiency, exploiting node heterogeneity, self-adaptability and self-configuration. In this article, we present our proposal for BIFSA (Biologically-Inspired Framework for Wireless Sensor and Actor networks). Indeed, BIFSA is a middleware that addresses the key issues of wireless sensor and actor networks. BIFSA consists of two types of agents: sensor agents (SA) that operate at the sensor level to collect and transport data to actors and actor agents (AA) that operate at the actor level to transport data to base stations. Once the sensor agent arrives at the actor, it becomes an actor agent, which can exploit the resources of the actors and vice versa. BIFSA allows agents to evolve their genetic structures and adapt to the current network conditions. The simulation results show that BIFSA allows the agents to make better use of all the resources available in each type of node, which improves the performance of the network.

Keywords: wireless sensor and actor networks, self-management, genetic algorithm, agent.

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27413 Genetically Engineered Crops: Solution for Biotic and Abiotic Stresses in Crop Production

Authors: Deepak Loura

Abstract:

Production and productivity of several crops in the country continue to be adversely affected by biotic (e.g., Insect-pests and diseases) and abiotic (e.g., water temperature and salinity) stresses. Over-dependence on pesticides and other chemicals is economically non-viable for the resource-poor farmers of our country. Further, pesticides can potentially affect human and environmental safety. While traditional breeding techniques and proper- management strategies continue to play a vital role in crop improvement, we need to judiciously use biotechnology approaches for the development of genetically modified crops addressing critical problems in the improvement of crop plants for sustainable agriculture. Modern biotechnology can help to increase crop production, reduce farming costs, and improve food quality and the safety of the environment. Genetic engineering is a new technology which allows plant breeders to produce plants with new gene combinations by genetic transformation of crop plants for improvement of agronomic traits. Advances in recombinant DNA technology have made it possible to have genes between widely divergent species to develop genetically modified or genetically engineered plants. Plant genetic engineering provides the strength to harness useful genes and alleles from indigenous microorganisms to enrich the gene pool for developing genetically modified (GM) crops that will have inbuilt (inherent) resistance to insect pests, diseases, and abiotic stresses. Plant biotechnology has made significant contributions in the past 20 years in the development of genetically engineered or genetically modified crops with multiple benefits. A variety of traits have been introduced in genetically engineered crops which include (i) herbicide resistance. (ii) pest resistance, (iii) viral resistance, (iv) slow ripening of fruits and vegetables, (v) fungal and bacterial resistance, (vi) abiotic stress tolerance (drought, salinity, temperature, flooding, etc.). (vii) quality improvement (starch, protein, and oil), (viii) value addition (vitamins, micro, and macro elements), (ix) pharmaceutical and therapeutic proteins, and (x) edible vaccines, etc. Multiple genes in transgenic crops can be useful in developing durable disease resistance and a broad insect-control spectrum and could lead to potential cost-saving advantages for farmers. The development of transgenic to produce high-value pharmaceuticals and the edible vaccine is also under progress, which requires much more research and development work before commercially viable products will be available. In addition, molecular-aided selection (MAS) is now routinely used to enhance the speed and precision of plant breeding. Newer technologies need to be developed and deployed for enhancing and sustaining agricultural productivity. There is a need to optimize the use of biotechnology in conjunction with conventional technologies to achieve higher productivity with fewer resources. Therefore, genetic modification/ engineering of crop plants assumes greater importance, which demands the development and adoption of newer technology for the genetic improvement of crops for increasing crop productivity.

Keywords: biotechnology, plant genetic engineering, genetically modified, biotic, abiotic, disease resistance

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27412 Genome-Wide Analysis Identifies Locus Associated with Parathyroid Hormone Levels

Authors: Antonela Matana, Dubravka Brdar, Vesela Torlak, Marijana Popovic, Ivana Gunjaca, Ozren Polasek, Vesna Boraska Perica, Maja Barbalic, Ante Punda, Caroline Hayward, Tatijana Zemunik

Abstract:

Parathyroid hormone (PTH) plays a critical role in the regulation of bone mineral metabolism and calcium homeostasis. Higher PTH levels are associated with heart failure, hypertension, coronary artery disease, cardiovascular mortality and poorer bone health. A twin study estimated that 60% of the variation in PTH concentrations is genetically determined. Only one GWAS of PTH concentration has been reported to date. Identified loci explained 4.5% of the variance in circulating PTH, suggesting that additional genetic variants remain undiscovered. Therefore, the aim of this study was to identify novel genetic variants associated with PTH levels in a general population. We have performed a GWAS meta-analysis on 2596 individuals originating from three Croatian cohorts: City of Split and the Islands of Korčula and Vis, within a large-scale project of “10,001 Dalmatians”. A total of 7 411 206 variants, imputed using the 1000 Genomes reference panel, with minor allele frequency ≥ 1% and Rsq ≥ 0.5 were analyzed for the association. GWAS within each data set was performed under an additive model, controlling for age, gender and relatedness. Meta-analysis was conducted using the inverse-variance fixed-effects method. Furthermore, to identify sex-specific effects, we have conducted GWAS meta-analyses analyzing males and females separately. In addition, we have performed biological pathway analysis. Four SNPs, representing one locus, reached genome-wide significance. The most significant SNP was rs11099476 on chromosome 4 (P=1.15x10-8), which explained 1.14 % of the variance in PTH. The SNP is located near the protein-coding gene RASGEF1B. Additionally, we detected suggestive association with SNPs, rs77178854 located on chromosome 2 in the DPP10 gene (P=2.46x10-7) and rs481121 located on chromosome 1 (P=3.58x10-7) near the GRIK1 gene. One of the top hits detected in the main meta-analysis, intron variant rs77178854 located within DPP10 gene, reached genome-wide significance in females (P=2.21x10-9). No single locus was identified in the meta-analysis in males. Fifteen biological pathways were functionally enriched at a P<0.01, including muscle contraction, ion homeostasis and cardiac conduction as the most significant pathways. RASGEF1B is the guanine nucleotide exchange factor, known to be associated with height, bone density, and hip. DPP10 encodes a membrane protein that is a member of the serine proteases family, which binds specific voltage-gated potassium channels and alters their expression and biophysical properties. In conclusion, we identified 2 novel loci associated with PTH levels in a general population, providing us with further insights into the genetics of this complex trait.

Keywords: general population, genome-wide association analysis, parathyroid hormone, single nucleotide polymorphisms.

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27411 Searching SNPs Variants in Myod-1 and Myod-2 Genes Linked to Body Weight in Gilthead Seabream, Sparus aurata L.

Authors: G. Blanco-Lizana, C. García-Fernández, J. A. Sánchez

Abstract:

Growth is a productive trait regulated by a large and complex gene network with very different effect. Some of they (candidate genes) have a higher effect and are excellent resources to search in them polymorphisms correlated with differences in growth rates. This study was focused on the identification of single nucleotide polymorphism (SNP) in MyoD-1 and MyoD-2 genes, members of the family of myogenic regulatory genes with a key role in the differentiation and development of muscular tissue.(MFRs), and its evaluation as potential markers in genetic selection programs for growth in gilthead sea bream (Sparus aurata). Through a sequencing in 30 seabream (classified as unrelated by microsatellite markers) of 1.968bp in MyoD-1 gene [AF478568 .1] and 1.963bp in MyoD-2 gene [AF478569.1], three SNPs were identified in each gene (SaMyoD-1 D2100A (D indicate a deletion) SaMyoD-1 A2143G and SaMyoD-1 A2404G and SaMyoD-2_A785C, SaMyoD-2_C1982T and SaMyoD-2_A2031T). The relationships between SNPs and body weight were evaluated by SNP genotyping of 53 breeders from two broodstocks (A:18♀-9♂; B:16♀-10♂) and 389 offspring divided into two groups (slow- and fast-growth) with significant differences in growth at 18 months of development (A18Slow: N=107, A18Fast: N=103, B18Slow: N=92 and B18Fast: N=87) (Borrell et al., 2011). Haplotype and diplotype were reconstructed from genotype data by Phase 2.1 software. Differences among means of different diplotypes were calculated by one-way ANOVA followed by post-hoc Tukey test. Association analysis indicated that single SNP did not show significant effect on body weight. However, when the analysis is carried out considering haplotype data it was observed that the DGG haplotipe of MyoD-1 gen and CCA haplotipe of MyoD- 2gen were associated to with lower body weight. This haplotype combination always showed the lowest mean body weight (P<0.05) in three (A18Slow, A18Fast & B18Slow) of the four groups tested. Individuals with DGG haplotipe of MyoD-1 gen have a 25,5% and those with CCA haplotipe of MyoD- 2gen showed 14-18% less on mean body weight. Although further studies are need to validate the role of these 3 SNPs as marker for body weight, the polymorphism-trait association established in this work create promising expectations on the use of these variants as genetic tool for future giltead seabream breeding programs.

Keywords: growth, MyoD-1 and MyoD-2 genes, selective breeding, SNP-haplotype

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27410 Nectariferous Plant Genetic Resources for Apicultural Entrepreneurship in Nigeria: Prerequisite for Conservation, Sustainable Management and Policy

Authors: C. V. Nnamani, O. L. Adedeji

Abstract:

The contemporary global economic meltdown has devastating effect on the Nigerian’s economy and its frantic search for alternative source of national revenue aside from oil and gas has become imperative for economic emancipation for Nigerians. Apicultural entrepreneurship could provide a source of livelihood if the basic knowledge of those plant genetic resources needed by bees is made available. A palynological evaluation of those palynotaxa which honey bees forage for pollen and nectar was carried out after standard acetolysis method. Results showed that the honey samples were highly diversified and rich in honey plants. A total of 9544.3 honey pollen, consisting of 39 honey plants belonging to 21 plant families and distributed within 38 genera were identified excluding 238 unidentified pollen grains. Data from the analysis equally revealed that Elaeis guineensis Jacq, Anacardium occidentale L, Diospyros mespiliformis Hochist xe ADC, Alchornea cordifolia Muell, Arg, Daniella oliveri (Rolfe) Hutch & Dalz, Irvingia wombolu Okafor ex Baill, Treculia africana Decne, Nauclea latifolia Smith and Crossopteryx febrifuga Afzil ex Benth were the predominant honey plants. It provided a guide to the optimal utilization of floral resources by honeybees in these regions, showing the opportunity and amazing potentials for apiculture entrepreneurship of these palytaxa. Most of these plants are rare, threatened and endangered. It calls for urgent conservation techniques and step by all players. Critical awareness creation to ensure farmers knowledge of these palynotaxa to ensure proper understanding and attendance boost from them as economic empowerment is needed.

Keywords: palynotaxa, acetolysis, enterprise, livelihood, Nigeria

Procedia PDF Downloads 271
27409 Thermodynamic Modeling and Exergoeconomic Analysis of an Isobaric Adiabatic Compressed Air Energy Storage System

Authors: Youssef Mazloum, Haytham Sayah, Maroun Nemer

Abstract:

The penetration of renewable energy sources into the electric grid is significantly increasing. However, the intermittence of these sources breaks the balance between supply and demand for electricity. Hence, the importance of the energy storage technologies, they permit restoring the balance and reducing the drawbacks of intermittence of the renewable energies. This paper discusses the modeling and the cost-effectiveness of an isobaric adiabatic compressed air energy storage (IA-CAES) system. The proposed system is a combination among a compressed air energy storage (CAES) system with pumped hydro storage system and thermal energy storage system. The aim of this combination is to overcome the disadvantages of the conventional CAES system such as the losses due to the storage pressure variation, the loss of the compression heat and the use of fossil fuel sources. A steady state model is developed to perform an energy and exergy analyses of the IA-CAES system and calculate the distribution of the exergy losses in the latter system. A sensitivity analysis is also carried out to estimate the effects of some key parameters on the system’s efficiency, such as the pinch of the heat exchangers, the isentropic efficiency of the rotating machinery and the pressure losses. The conducted sensitivity analysis is a local analysis since the sensibility of each parameter changes with the variation of the other parameters. Therefore, an exergoeconomic study is achieved as well as a cost optimization in order to reduce the electricity cost produced during the production phase. The optimizer used is OmOptim which is a genetic algorithms based optimizer.

Keywords: cost-effectiveness, Exergoeconomic analysis, isobaric adiabatic compressed air energy storage (IA-CAES) system, thermodynamic modeling

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27408 Optimisation of Intermodal Transport Chain of Supermarkets on Isle of Wight, UK

Authors: Jingya Liu, Yue Wu, Jiabin Luo

Abstract:

This work investigates an intermodal transportation system for delivering goods from a Regional Distribution Centre to supermarkets on the Isle of Wight (IOW) via the port of Southampton or Portsmouth in the UK. We consider this integrated logistics chain as a 3-echelon transportation system. In such a system, there are two types of transport methods used to deliver goods across the Solent Channel: one is accompanied transport, which is used by most supermarkets on the IOW, such as Spar, Lidl and Co-operative food; the other is unaccompanied transport, which is used by Aldi. Five transport scenarios are studied based on different transport modes and ferry routes. The aim is to determine an optimal delivery plan for supermarkets of different business scales on IOW, in order to minimise the total running cost, fuel consumptions and carbon emissions. The problem is modelled as a vehicle routing problem with time windows and solved by genetic algorithm. The computing results suggested that accompanied transport is more cost efficient for small and medium business-scale supermarket chains on IOW, while unaccompanied transport has the potential to improve the efficiency and effectiveness of large business scale supermarket chains.

Keywords: genetic algorithm, intermodal transport system, Isle of Wight, optimization, supermarket

Procedia PDF Downloads 345
27407 Detection of MspI Polymorphism and SNP of GH Gene in Some Camel Breeds Reared in Egypt

Authors: Sekena H. Abd El-Aziem, Heba A. M. Abd El-Kader, Sally S. Alam, Othman E. Othman

Abstract:

Growth hormone (GH) is an anabolic hormone synthesized and secreted by the somatotroph cells of the anterior lobe of the pituitary gland in a circadian and pulsatile manner, the pattern of which plays an important role in postnatal longitudinal growth and development, tissue growth, lactation, reproduction as well as protein, lipid and carbohydrate metabolism. The aim of this study was to detect the genetic polymorphism of GH gene in five camel breeds reared in Egypt; Sudany, Somali, Mowaled, Maghrabi and Falahy, using PCR-RFLP technique. Also this work aimed to identify the single nucleotide polymorphism between different genotypes detected in these camel breeds. The amplified fragment of camel GH at 613-bp was digested with the restriction enzyme MspI and the result revealed the presence of three different genotypes; CC, CT and TT in tested breeds and significant differences were recorded in the genotype frequencies between these camel breeds. The result showed that the Maghrabi breed that is classified as a dual purpose camels had higher frequency for allele C (0.75) than those in the other tested four breeds. The sequence analysis declared the presence of a SNP (C→T) at position 264 in the amplified fragment which is responsible for the destruction of the restriction site C^CGG and consequently the appearance of two different alleles C and T. The nucleotide sequences of camel GH alleles T and C were submitted to nucleotide sequences database NCBI/Bankit/GenBank and have accession numbers: KP143517 and KP143518, respectively. It is concluded that only one SNP C→T was detected in GH gene among the five tested camel breeds reared in Egypt and this nucleotide substitution can be used as a marker for the genetic biodiversity between camel breeds reared in Egypt. Also, due to the possible association between allele C and higher growth rate, we can used it in MAS for camels and enter the camels possess this allele in breeding program as a way for enhancement of growth trait in camel breeds reared in Egypt.

Keywords: camel breeds in Egypt, GH, PCR-RFLP, SNPs

Procedia PDF Downloads 442
27406 Genetic Algorithm for In-Theatre Military Logistics Search-and-Delivery Path Planning

Authors: Jean Berger, Mohamed Barkaoui

Abstract:

Discrete search path planning in time-constrained uncertain environment relying upon imperfect sensors is known to be hard, and current problem-solving techniques proposed so far to compute near real-time efficient path plans are mainly bounded to provide a few move solutions. A new information-theoretic –based open-loop decision model explicitly incorporating false alarm sensor readings, to solve a single agent military logistics search-and-delivery path planning problem with anticipated feedback is presented. The decision model consists in minimizing expected entropy considering anticipated possible observation outcomes over a given time horizon. The model captures uncertainty associated with observation events for all possible scenarios. Entropy represents a measure of uncertainty about the searched target location. Feedback information resulting from possible sensor observations outcomes along the projected path plan is exploited to update anticipated unit target occupancy beliefs. For the first time, a compact belief update formulation is generalized to explicitly include false positive observation events that may occur during plan execution. A novel genetic algorithm is then proposed to efficiently solve search path planning, providing near-optimal solutions for practical realistic problem instances. Given the run-time performance of the algorithm, natural extension to a closed-loop environment to progressively integrate real visit outcomes on a rolling time horizon can be easily envisioned. Computational results show the value of the approach in comparison to alternate heuristics.

Keywords: search path planning, false alarm, search-and-delivery, entropy, genetic algorithm

Procedia PDF Downloads 341
27405 Large-scale GWAS Investigating Genetic Contributions to Queerness Will Decrease Stigma Against LGBTQ+ Communities

Authors: Paul J. McKay

Abstract:

Large-scale genome-wide association studies (GWAS) investigating genetic contributions to sexual orientation and gender identity are largely lacking and may reduce stigma experienced in the LGBTQ+ community by providing an underlying biological explanation for queerness. While there is a growing consensus within the scientific community that genetic makeup contributes – at least in part – to sexual orientation and gender identity, there is a marked lack of genomics research exploring polygenic contributions to queerness. Based on recent (2019) findings from a large-scale GWAS investigating the genetic architecture of same-sex sexual behavior, and various additional peer-reviewed publications detailing novel insights into the molecular mechanisms of sexual orientation and gender identity, we hypothesize that sexual orientation and gender identity are complex, multifactorial, and polygenic; meaning that many genetic factors contribute to these phenomena, and environmental factors play a possible role through epigenetic modulation. In recent years, large-scale GWAS studies have been paramount to our modern understanding of many other complex human traits, such as in the case of autism spectrum disorder (ASD). Despite possible benefits of such research, including reduced stigma towards queer people, improved outcomes for LGBTQ+ in familial, socio-cultural, and political contexts, and improved access to healthcare (particularly for trans populations); important risks and considerations remain surrounding this type of research. To mitigate possibilities such as invalidation of the queer identities of existing LGBTQ+ individuals, genetic discrimination, or the possibility of euthanasia of embryos with a genetic predisposition to queerness (through reproductive technologies like IVF and/or gene-editing in utero), we propose a community-engaged research (CER) framework which emphasizes the privacy and confidentiality of research participants. Importantly, the historical legacy of scientific research attempting to pathologize queerness (in particular, falsely equating gender variance to mental illness) must be acknowledged to ensure any future research conducted in this realm does not propagate notions of homophobia, transphobia or stigma against queer people. Ultimately, in a world where same-sex sexual activity is criminalized in 69 UN member states, with 67 of these states imposing imprisonment, 8 imposing public flogging, 6 (Brunei, Iran, Mauritania, Nigeria, Saudi Arabia, Yemen) invoking the death penalty, and another 5 (Afghanistan, Pakistan, Qatar, Somalia, United Arab Emirates) possibly invoking the death penalty, the importance of this research cannot be understated, as finding a biological basis for queerness would directly oppose the harmful rhetoric that “being LGBTQ+ is a choice.” Anti-trans legislation is similarly widespread: In the United States in 2022 alone (as of Oct. 13), 155 anti-trans bills have been introduced preventing trans girls and women from playing on female sports teams, barring trans youth from using bathrooms and locker rooms that align with their gender identity, banning access to gender affirming medical care (e.g., hormone-replacement therapy, gender-affirming surgeries), and imposing legal restrictions on name changes. Understanding that a general lack of knowledge about the biological basis of queerness may be a contributing factor to the societal stigma faced by gender and sexual orientation minorities, we propose the initiation of large-scale GWAS studies investigating the genetic basis of gender identity and sexual orientation.

Keywords: genome-wide association studies (GWAS), sexual and gender minorities (SGM), polygenicity, community-engaged research (CER)

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27404 Effect in Animal Nutrition of Genetical Modified Plant(GM)

Authors: Abdullah Özbilgin, Oguzhan Kahraman, Mustafa Selçuk Alataş

Abstract:

Plant breeders have made and will continue to make important contributions toward meeting the need for more and better feed and food. The use of new techniques to modify the genetic makeup of plants to improve their properties has led to a new generation of crops, grains and their by-products for feed. Plant breeders have made and will continue to make important contributions toward meeting the need for more and better feed and food. The use of new techniques to modify the genetic makeup of plants to improve their properties has led to a new generation of crops, grains and their by-products for feed. The land area devoted to the cultivation of genetically modified (GM) plants has increased in recent years: in 2012 such plants were grown on over 170 million hectares globally, in 28 different countries, and are at resent used by 17.3 million farmers worldwide. The majority of GM plants are used as feed material for food-producing farm animals. Despite the facts that GM plants have been used as feed for years and a number of feeding studies have proved their safety for animals, they still give rise to emotional public discussion.

Keywords: crops, genetical modified plant(GM), plant, safety

Procedia PDF Downloads 539
27403 Efficacy of Preimplantation Genetic Screening in Women with a Spontaneous Abortion History with Eukaryotic or Aneuploidy Abortus

Authors: Jayeon Kim, Eunjung Yu, Taeki Yoon

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Most spontaneous miscarriage is believed to be a consequence of embryo aneuploidies. Transferring eukaryotic embryos selected by PGS is expected to decrease the miscarriage rate. Current PGS indications include advanced maternal age, recurrent pregnancy loss, repeated implantation failure. Recently, use of PGS for healthy women without above indications for the purpose of improving in vitro fertilization (IVF) outcomes is on the rise. However, it is still controversy about the beneficial effect of PGS in this population, especially, in women with a history of no more than 2 miscarriages or miscarriage of eukaryotic abortus. This study aimed to investigate if karyotyping result of abortus is a good indicator of preimplantation genetic screening (PGS) in subsequent IVF cycle in women with a history of spontaneous abortion. A single-center retrospective cohort study was performed. Women who had spontaneous abortion(s) (less than 3) and dilatation and evacuation, and subsequent IVF from January 2016 to November 2016 were included. Their medical information was extracted from the charts. Clinical pregnancy was defined as presence of a gestational sac with fetal heart beat detected on ultrasound in week 7. Statistical analysis was performed using SPSS software. Total 234 women were included. 121 out of 234 (51.7%) underwent karyotyping of the abortus, and 113 did not have the abortus karyotyped. Embryo biopsy was performed on 3 or 5 days after oocyte retrieval, followed by embryo transfer (ET) on a fresh or frozen cycle. The biopsied materials were subjected to microarray comparative genomic hybridization. Clinical pregnancy rate per ET was compared between PGS and non-PGS group in each study group. Patients were grouped by two criteria: karyotype of the abortus from previous miscarriage (unknown fetal karyotype (n=89, Group 1), eukaryotic abortus (n=36, Group 2) or aneuploidy abortus (n=67, Group 3)), and pursuing PGS in subsequent IVF cycle (pursuing PGS (PGS group, n=105) or not pursuing PGS (non-PGS group, n=87)). The PGS group was significantly older and had higher number of retrieved oocytes and prior miscarriages compared to non-PGS group. There were no differences in BMI and AMH level between those two groups. In PGS group, the mean number of transferable embryos (eukaryotic embryo) was 1.3 ± 0.7, 1.5 ± 0.5 and 1.4 ± 0.5, respectively (p = 0.049). In 42 cases, ET was cancelled because all embryos biopsied turned out to be abnormal. In all three groups (group 1, 2, and 3), clinical pregnancy rates were not statistically different between PGS and non-PGS group (Group 1: 48.8% vs. 52.2% (p=0.858), Group 2: 70% vs. 73.1% (p=0.730), Group 3: 42.3% vs. 46.7% (p=0.640), in PGS and non-PGS group, respectively). In both groups who had miscarriage with eukaryotic and aneuploidy abortus, the clinical pregnancy rate between IVF cycles with and without PGS was not different. When we compare miscarriage and ongoing pregnancy rate, there were no significant differences between PGS and non-PGS group in all three groups. Our results show that the routine application of PGS in women who had less than 3 miscarriages would not be beneficial, even in cases that previous miscarriage had been caused by fetal aneuploidy.

Keywords: preimplantation genetic diagnosis, miscarriage, kpryotyping, in vitro fertilization

Procedia PDF Downloads 156