Search results for: hotspot mutation
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 298

Search results for: hotspot mutation

118 Autogenous Diabetic Retinopathy Censor for Ophthalmologists - AKSHI

Authors: Asiri Wijesinghe, N. D. Kodikara, Damitha Sandaruwan

Abstract:

The Diabetic Retinopathy (DR) is a rapidly growing interrogation around the world which can be annotated by abortive metabolism of glucose that causes long-term infection in human retina. This is one of the preliminary reason of visual impairment and blindness of adults. Information on retinal pathological mutation can be recognized using ocular fundus images. In this research, we are mainly focused on resurrecting an automated diagnosis system to detect DR anomalies such as severity level classification of DR patient (Non-proliferative Diabetic Retinopathy approach) and vessel tortuosity measurement of untwisted vessels to assessment of vessel anomalies (Proliferative Diabetic Retinopathy approach). Severity classification method is obtained better results according to the precision, recall, F-measure and accuracy (exceeds 94%) in all formats of cross validation. In ROC (Receiver Operating Characteristic) curves also visualized the higher AUC (Area Under Curve) percentage (exceeds 95%). User level evaluation of severity capturing is obtained higher accuracy (85%) result and fairly better values for each evaluation measurements. Untwisted vessel detection for tortuosity measurement also carried out the good results with respect to the sensitivity (85%), specificity (89%) and accuracy (87%).

Keywords: fundus image, exudates, microaneurisms, hemorrhages, tortuosity, diabetic retinopathy, optic disc, fovea

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117 Climate Change Effects in a Mediterranean Island and Streamflow Changes for a Small Basin Using Euro-Cordex Regional Climate Simulations Combined with the SWAT Model

Authors: Pier Andrea Marras, Daniela Lima, Pedro Matos Soares, Rita Maria Cardoso, Daniela Medas, Elisabetta Dore, Giovanni De Giudici

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Climate change effects on the hydrologic cycle are the main concern for the evaluation of water management strategies. Climate models project scenarios of precipitation changes in the future, considering greenhouse emissions. In this study, the EURO-CORDEX (European Coordinated Regional Downscaling Experiment) climate models were first evaluated in a Mediterranean island (Sardinia) against observed precipitation for a historical reference period (1976-2005). A weighted multi-model ensemble (ENS) was built, weighting the single models based on their ability to reproduce observed rainfall. Future projections (2071-2100) were carried out using the 8.5 RCP emissions scenario to evaluate changes in precipitations. ENS was then used as climate forcing for the SWAT model (Soil and Water Assessment Tool), with the aim to assess the consequences of such projected changes on streamflow and runoff of two small catchments located in the South-West Sardinia. Results showed that a decrease of mean rainfall values, up to -25 % at yearly scale, is expected for the future, along with an increase of extreme precipitation events. Particularly in the eastern and southern areas, extreme events are projected to increase by 30%. Such changes reflect on the hydrologic cycle with a decrease of mean streamflow and runoff, except in spring, when runoff is projected to increase by 20-30%. These results stress that the Mediterranean is a hotspot for climate change, and the use of model tools can provide very useful information to adopt water and land management strategies to deal with such changes.

Keywords: EURO-CORDEX, climate change, hydrology, SWAT model, Sardinia, multi-model ensemble

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116 Challenging the Theory of Mind: Autism Spectrum Disorder, Social Construction, and Biochemical Explanation

Authors: Caroline Kim

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The designation autism spectrum disorder (ASD) groups complex disorders in the development of the brain. Autism is defined essentially as a condition in which an individual lacks a theory of mind. The theory of mind, in this sense, explains the ability of an individual to attribute feelings, emotions, or thoughts to another person. An autistic patient is characteristically unable to determine what an interlocutor is feeling, or to understand the beliefs of others. However, it is possible that autism cannot plausibly characterized as the lack of theory of mind in an individual. Genes, the bran, and its interplay with environmental factors may also cause autism. A mutation in a gene may be hereditary, or instigated by diseases such as mumps. Though an autistic patient may experience abnormalities in the cerebellum and the cortical regions, these are in fact only possible theories as to a biochemical explanation behind the disability. The prevailing theory identifying autism with lacking the theory of mind is supported by behavioral observation, but this form of observation is itself determined by socially constructed standards, limiting the possibility for empirical verification. The theory of mind infers that the beliefs and emotions of people are causally based on their behavior. This paper demonstrates the fallacy of this inference, critiquing its basis in socially constructed values, and arguing instead for a biochemical approach free from the conceptual apparatus of language and social expectation.

Keywords: autism spectrum disorder, sociology of psychology, social construction, the theory of mind

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115 Assessing the Impact of Heatwaves on Intertidal Mudflat Colonized by an Exotic Mussel

Authors: Marie Fouet, Olivier Maire, Cécile Masse, Hugues Blanchet, Salomé Coignard, Nicolas Lavesque, Guillaume Bernard

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Exacerbated by global change, extreme climatic events such as atmospheric and marine heat waves may interact with the spread of non-indigenous species and their associated impacts on marine ecosystems. Since the 1970’s, the introduction of non-indigenous species due to oyster exchanges has been numerous. Among them, the Asian date mussel Arcuatula senhousia has colonized a large number of ecosystems worldwide (e.g., California, New Zealand, Italy). In these places, A.senhousia led to important habitat modifications in the benthic compartment through physical, biological, and biogeochemical effects associated with the development of dense mussel populations. In Arcachon Bay (France), a coastal lagoon of the French Atlantic and hotspot of oyster farming, abundances of A. senhousia recently increased, following a lag time of ca. 20 years since the first record of the species in 2002. Here, we addressed the potential effects of the interaction between A. senhousia invasion and heatwave intensity on ecosystem functioning within an intertidal mudflat. More precisely, two realistic intensities (“High” and “Severe”) of combined marine and atmospheric heatwaves have been simulated in an experimental tidal mesocosm system onto which naturally varying densities of A. senhousia and associated benthic communities were exposed in sediment cores collected in situ. Following a six-day exposure, community-scale responses were assessed by measuring benthic metabolism (oxygen and nutrient fluxes) in each core. Results show that besides significantly enhanced benthic metabolism with increasing heatwave intensity, mussel density clearly mediated the magnitude of the community-scale response, thereby highlighting the importance of understanding the interactive effects of environmental stressors co-occurring with non-indigenous species and their dependencies for a better assessment of their impacts.

Keywords: arcuatula senhousia, benthic habitat, ecosystem functioning, heatwaves, metabolism

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114 Epidemiology of Primary Bronchopulmonary Cancer in Tunisia

Authors: Melliti Rihab, Zaeid Sonia, Khechine Wiem, Daldoul Amira

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Introduction: Lung cancer is the leading cause of cancer death. Its incidence is increasing, and its prognosis remains pejorative. We present the clinical, pathological, and therapeutic characteristics of bronchopulmonary cancer (BPC) in Tunisia. Methods: Retrospective study including patients followed in the oncology department of the University Hospital of Monastir between April 2014 and December 2021 suffering from lung cancer. Results: These are 117 patients, including 86.3% men and 13.7% women (sex ratio 6.3). The average age was 64 years ± 9 (37-83), with 95.7% being over 50 years old. Patients were smokers in 82% of cases. The clinical signs were dominated by chest pain (27.5%) and dyspnea in 21.1% of cases. In 6 patients, an episode of COVID-19 infection revealed the diagnosis. Half of the patients had a PS between 0 and 1. Small cell lung cancer was present in 18 patients (15.4%). The majority of non small cell lung cancer was of the adenocarcinoma type (68.7%). The diagnosis was late (stage IV) in 62.4% of cases. BPC was metastatic to bone (52%), contralateral lung (25.9%), and brain (27.3%). Patients were oligometastatic in 26% of cases. Surgery and radiotherapy were performed respectively in 14.5% and 23.1% of cases. Three-quarters of the patients had had nutrition (75.2%). The ROS1 mutation was present in 1 patient. PDL-1 expression was >40% in 2 patients. Survival was mean eight months ± 7.4. Conclusion: Lung cancer is diagnosed at a late stage in Tunisia. The lack of molecular study for non-small cell PBC and the lack of marketing authorization for tyrosine kinase inhibitors in Tunisia make the management incomplete.

Keywords: SCLC, NCSLC, ROS1, PDL1

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113 The Impact of Missense Mutation in Phosphatidylinositol Glycan Class A Associated to Paroxysmal Nocturnal Hemoglobinuria and Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2: A Computational Study

Authors: Ashish Kumar Agrahari, Amit Kumar

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Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal blood disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias. The disease is caused by the deficiency of two glycosylphosphatidylinositols (GPI)-anchored proteins (CD55 and CD59) in the hemopoietic stem cells. The deficiency of GPI-anchored proteins has been associated with the somatic mutations in phosphatidylinositol glycan class A (PIGA). However, the mutations that do not cause PNH is associated with the multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2). To best of our knowledge, no computational study has been performed to explore the atomistic level impact of PIGA mutations on the structure and dynamics of the protein. In the current work, we are mainly interested to get insights into the molecular mechanism of PIGA mutations. In the initial step, we screened the most pathogenic mutations from the pool of publicly available mutations. Further, to get a better understanding, pathogenic mutations were mapped to the modeled structure and subjected to 50ns molecular dynamics simulation. Our computational study suggests that four mutations are highly vulnerable to altering the structural conformation and stability of the PIGA protein, which illustrates its association with PNH and MCAHS2 phenotype.

Keywords: homology modeling, molecular dynamics simulation, missense mutations PNH, MCAHS2, PIGA

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112 Study on Safety Management of Deep Foundation Pit Construction Site Based on Building Information Modeling

Authors: Xuewei Li, Jingfeng Yuan, Jianliang Zhou

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The 21st century has been called the century of human exploitation of underground space. Due to the characteristics of large quantity, tight schedule, low safety reserve and high uncertainty of deep foundation pit engineering, accidents frequently occur in deep foundation pit engineering, causing huge economic losses and casualties. With the successful application of information technology in the construction industry, building information modeling has become a research hotspot in the field of architectural engineering. Therefore, the application of building information modeling (BIM) and other information communication technologies (ICTs) in construction safety management is of great significance to improve the level of safety management. This research summed up the mechanism of the deep foundation pit engineering accident through the fault tree analysis to find the control factors of deep foundation pit engineering safety management, the deficiency existing in the traditional deep foundation pit construction site safety management. According to the accident cause mechanism and the specific process of deep foundation pit construction, the hazard information of deep foundation pit engineering construction site was identified, and the hazard list was obtained, including early warning information. After that, the system framework was constructed by analyzing the early warning information demand and early warning function demand of the safety management system of deep foundation pit. Finally, the safety management system of deep foundation pit construction site based on BIM through combing the database and Web-BIM technology was developed, so as to realize the three functions of real-time positioning of construction site personnel, automatic warning of entering a dangerous area, real-time monitoring of deep foundation pit structure deformation and automatic warning. This study can initially improve the current situation of safety management in the construction site of deep foundation pit. Additionally, the active control before the occurrence of deep foundation pit accidents and the whole process dynamic control in the construction process can be realized so as to prevent and control the occurrence of safety accidents in the construction of deep foundation pit engineering.

Keywords: Web-BIM, safety management, deep foundation pit, construction

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111 A Convergent Interacting Particle Method for Computing Kpp Front Speeds in Random Flows

Authors: Tan Zhang, Zhongjian Wang, Jack Xin, Zhiwen Zhang

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We aim to efficiently compute the spreading speeds of reaction-diffusion-advection (RDA) fronts in divergence-free random flows under the Kolmogorov-Petrovsky-Piskunov (KPP) nonlinearity. We study a stochastic interacting particle method (IPM) for the reduced principal eigenvalue (Lyapunov exponent) problem of an associated linear advection-diffusion operator with spatially random coefficients. The Fourier representation of the random advection field and the Feynman-Kac (FK) formula of the principal eigenvalue (Lyapunov exponent) form the foundation of our method implemented as a genetic evolution algorithm. The particles undergo advection-diffusion and mutation/selection through a fitness function originated in the FK semigroup. We analyze the convergence of the algorithm based on operator splitting and present numerical results on representative flows such as 2D cellular flow and 3D Arnold-Beltrami-Childress (ABC) flow under random perturbations. The 2D examples serve as a consistency check with semi-Lagrangian computation. The 3D results demonstrate that IPM, being mesh-free and self-adaptive, is simple to implement and efficient for computing front spreading speeds in the advection-dominated regime for high-dimensional random flows on unbounded domains where no truncation is needed.

Keywords: KPP front speeds, random flows, Feynman-Kac semigroups, interacting particle method, convergence analysis

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110 Using Genetic Algorithms to Outline Crop Rotations and a Cropping-System Model

Authors: Nicolae Bold, Daniel Nijloveanu

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The idea of cropping-system is a method used by farmers. It is an environmentally-friendly method, protecting the natural resources (soil, water, air, nutritive substances) and increase the production at the same time, taking into account some crop particularities. The combination of this powerful method with the concepts of genetic algorithms results into a possibility of generating sequences of crops in order to form a rotation. The usage of this type of algorithms has been efficient in solving problems related to optimization and their polynomial complexity allows them to be used at solving more difficult and various problems. In our case, the optimization consists in finding the most profitable rotation of cultures. One of the expected results is to optimize the usage of the resources, in order to minimize the costs and maximize the profit. In order to achieve these goals, a genetic algorithm was designed. This algorithm ensures the finding of several optimized solutions of cropping-systems possibilities which have the highest profit and, thus, which minimize the costs. The algorithm uses genetic-based methods (mutation, crossover) and structures (genes, chromosomes). A cropping-system possibility will be considered a chromosome and a crop within the rotation is a gene within a chromosome. Results about the efficiency of this method will be presented in a special section. The implementation of this method would bring benefits into the activity of the farmers by giving them hints and helping them to use the resources efficiently.

Keywords: chromosomes, cropping, genetic algorithm, genes

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109 Workforce Optimization: Fair Workload Balance and Near-Optimal Task Execution Order

Authors: Alvaro Javier Ortega

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A large number of companies face the challenge of matching highly-skilled professionals to high-end positions by human resource deployment professionals. However, when the professional list and tasks to be matched are larger than a few dozens, this process result is far from optimal and takes a long time to be made. Therefore, an automated assignment algorithm for this workforce management problem is needed. The majority of companies are divided into several sectors or departments, where trained employees with different experience levels deal with a large number of tasks daily. Also, the execution order of all tasks is of mater consequence, due to some of these tasks just can be run it if the result of another task is provided. Thus, a wrong execution order leads to large waiting times between consecutive tasks. The desired goal is, therefore, creating accurate matches and a near-optimal execution order that maximizes the number of tasks performed and minimizes the idle time of the expensive skilled employees. The problem described before can be model as a mixed-integer non-linear programming (MINLP) as it will be shown in detail through this paper. A large number of MINLP algorithms have been proposed in the literature. Here, genetic algorithm solutions are considered and a comparison between two different mutation approaches is presented. The simulated results considering different complexity levels of assignment decisions show the appropriateness of the proposed model.

Keywords: employees, genetic algorithm, industry management, workforce

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108 Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever

Authors: S. Salah, S. A. El-Masry, H. F. Sheba, R. A. El-Banna, W. Saad

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Background: Familial Mediterranean fever (FMF) has episodic or subclinical inflammation that may lead to a decrease in bone mineral density (BMD). Objective: To assess BMD in Egyptian children with FMF on genetic basis. Subjects and Methods: A cross sectional study included 45 FMF patients and 25 control children of both sexes, with age range between 3-16 years old. The patients were reclassified into 2 groups: Group I (A) 23 cases used colchicines for 1 month or less, and Group I (B) 22 cases used colchicines for more than 6 months. For both patients and control, MEFV mutations were defined using molecular genetics technique and BMD was measured by DXA at 2 sites: proximal femur and the lumber spines. Results: four frequent gene mutations were found in the patient group: E148Q (35.6%), V726A (33.3%), M680I (28.9.0%) and M694V (2.2%). There were also 4 heterozygous gene mutations in 40% of control children. Patients received colchicines treatment for less than 1 month had highly significant lower values of BMD at femur and lumber spines than control children (p<0.05). Patients received colchicines treatment for more than 6 months had improved values of BMD at femur compared to control, but there were still significant differences between them at lumbar spine (p>0.05). There are insignificant effect of type of gene mutation on BMD and the risk of osteopenia among the patients. Conclusion: FMF had significant effect on BMD. However, regular use of colchicines treatment improves this effect mainly at femur.

Keywords: familial mediterranean fever, bone mineral density, genes, children

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107 TCTN2 Maintains the Transition Zone Stability and Controls the Entrance of the Ciliary Membrane Protein into Primary Cilia

Authors: Rueyhung Weng, Chia-En Huang, Jung-Chi-Liao

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The transition zone (TZ) serves as a diffusion barrier to regulate the ins and outs of the proteins recruited to the primary cilia. TCTN2 is one of the TZ proteins and its mutation causes Joubert syndrome, a serious multi-organ disease. Despite its important medical relevance, the functions of TCTN2 remain elusive. Here we created a TCTN2 gene deleted retinal pigment epithelial cells (RPE1) using CRISPR/Cas9-based genome editing technique and used this knockout line to reveal roles of TCTN2. TCTN2 knockout RPE1 cells displayed a significantly reduced ciliogenesis or a shortened primary cilium length in the cilium-remaining population. Intraflagellar transport protein IFT88 aberrantly accumulated at the tip of TCTN2 deficient cells. Guanine nucleotide exchange factor Arl13B was mostly absent from the ciliary compartment, with a small population localizing at the ciliary tip. The deficient TZ was corroborated with the mislocalization of two other TZ proteins TMEM67 and MKS1. In addition, TCTN2 deficiency induced TZ impairment led to the suppression of Sonic hedgehog signaling in response to Smoothened (Smo) agonist. Together, depletion of TCTN2 destabilizes other TZ proteins and considerably alters the localization of key transport and signaling-associated proteins, including IFT88, Arl13B, and Smo.

Keywords: CRISPR/Cas9, primary cilia, Sonic hedgehog signaling, transition zone

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106 Artificial Intelligence for Generative Modelling

Authors: Shryas Bhurat, Aryan Vashistha, Sampreet Dinakar Nayak, Ayush Gupta

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As the technology is advancing more towards high computational resources, there is a paradigm shift in the usage of these resources to optimize the design process. This paper discusses the usage of ‘Generative Design using Artificial Intelligence’ to build better models that adapt the operations like selection, mutation, and crossover to generate results. The human mind thinks of the simplest approach while designing an object, but the intelligence learns from the past & designs the complex optimized CAD Models. Generative Design takes the boundary conditions and comes up with multiple solutions with iterations to come up with a sturdy design with the most optimal parameter that is given, saving huge amounts of time & resources. The new production techniques that are at our disposal allow us to use additive manufacturing, 3D printing, and other innovative manufacturing techniques to save resources and design artistically engineered CAD Models. Also, this paper discusses the Genetic Algorithm, the Non-Domination technique to choose the right results using biomimicry that has evolved for current habitation for millions of years. The computer uses parametric models to generate newer models using an iterative approach & uses cloud computing to store these iterative designs. The later part of the paper compares the topology optimization technology with Generative Design that is previously being used to generate CAD Models. Finally, this paper shows the performance of algorithms and how these algorithms help in designing resource-efficient models.

Keywords: genetic algorithm, bio mimicry, generative modeling, non-dominant techniques

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105 Allelic Diversity of Productive, Reproductive and Fertility Traits Genes of Buffalo and Cattle

Authors: M. Moaeen-ud-Din, G. Bilal, M. Yaqoob

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Identification of genes of importance regarding production traits in buffalo is impaired by a paucity of genomic resources. Choice to fill this gap is to exploit data available for cow. The cross-species application of comparative genomics tools is potential gear to investigate the buffalo genome. However, this is dependent on nucleotide sequences similarity. In this study gene diversity between buffalo and cattle was determined by using 86 gene orthologues. There was about 3% difference in all genes in term of nucleotide diversity; and 0.267±0.134 in amino acids indicating the possibility for successfully using cross-species strategies for genomic studies. There were significantly higher non synonymous substitutions both in cattle and buffalo however, there was similar difference in term of dN – dS (4.414 vs 4.745) in buffalo and cattle respectively. Higher rate of non-synonymous substitutions at similar level in buffalo and cattle indicated a similar positive selection pressure. Results for relative rate test were assessed with the chi-squared test. There was no significance difference on unique mutations between cattle and buffalo lineages at synonymous sites. However, there was a significance difference on unique mutations for non synonymous sites indicating ongoing mutagenic process that generates substitutional mutation at approximately the same rate at silent sites. Moreover, despite of common ancestry, our results indicate a different divergent time among genes of cattle and buffalo. This is the first demonstration that variable rates of molecular evolution may be present within the family Bovidae.

Keywords: buffalo, cattle, gene diversity, molecular evolution

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104 The MTHFR C677T Polymorphism Screening: A Challenge in Recurrent Pregnancy Loss

Authors: Rim Frikha, Nouha Bouayed, Afifa Sellami, Nozha Chakroun, Salima Daoud, Leila Keskes, Tarek Rebai

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Introduction: Recurrent pregnancy loss (RPL) defined as two or more pregnancy losses, is a serious clinical problem. Methylene-tetrahydro-folate-reductase (MTHFR) polymorphisms, commonly the variant C677T is recognized as an inherited thrombophilia which might affect embryonic development and pregnancy success and cause pregnancy complications as RPL. Material and Methods DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of the C677T MTHFR polymorphism among 70 patients (35 couples) with more than 2 fetal losses. Aims and Objective: The aim of this study is to determine the frequency of MTHFR C677T among Tunisian couples with RPL and to critically analyze the available literature on the importance of MTHFR polymorphism testing in the management of RPL. Result and comments: No C677T mutation was detected in the carriers of RPL. This result would be related to sample size and to different criteria (number of abortion), - The association between MTHFR polymorphisms and pregnancy complications has been reported but with controversial results. - A lack of evidence for MTHFR polymorphism testing previously recommended by ACMG (American College of Medical medicine). Our study highlights the importance of screening of MTHFR polymorphism since the real impact of such thrombotic molecular defect on the pregnancy outcome is evident. - Folic supplementation of these patients during pregnancy can prevent such complications and lead to a successful pregnancy outcome.

Keywords: methylenetetrahydrofolate reductase, C677T, recurrent pregnancy loss, genetic testing

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103 The Role of Glutamine-Rich Region of Candida Albicans Tec1p in Mediating Morphological Transition and Invasive Growth

Authors: W. Abu Rayyan, A. Singh, A. M. Al-Jaafreh, W. Abu Dayyih, M. Bustami, S. Salem, N. Seder, K. Schröppel

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Hyphal growth and the transcriptional regulation to the host environment are key issues during the pathogenesis of C. albicans. Tec1p is the C. albicans homolog of a TEA transcription factor family, which share a conserved DNA-binding TEA domain in their N-terminal. In order to define a structure-function relationship of the C. albicans Tec1p protein, we constructed several mutations on the N terminal, C terminal or in the TEA binding domain itself by homologous recombination technology. The modifications in the open reading frame of TEC1 were tested for reconstitution of the morphogenetic development of the tec1/tec1 mutant strain CaAS12. Mutation in the TEA consensus sequence did not confer transition to hyphae whereas the reconstitution of the full-length Tec1p has reconstituted hyphal development. A deletion in one of glutamine-rich regions either in the Tec1p N-terminal or the C-terminal in regions of 53-212 or 637–744 aa, respectively, did not restore morphological development in mutant CaAS12 strain. Whereas, the reconstitution with Tec1p mutants other than the glutamate-rich region has restored the morphogenetic switch. Additionally, the deletion of the glutamine-rich region has attenuated the invasive growth and the heat shock resistance of C. albicans. In conclusion, we show that a glutamine-rich region of Tec1p is essential for the hyphal development and mediating adaptation to the host environment of C. albicans.

Keywords: Candida albicans, morphogenetic development, TEA domain, hyphal formation, TEC1

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102 Geo-Visualization of Crimes against Children: An India Level Study 2001-2012

Authors: Ritvik Chauhan, Vijay Kumar Baraik

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Crime is a rare event on earth surface. It is not simple but a complex event occurring in a spatio- temporal environment. Crime is one of the most serious security threats to human environments as it may result in harm to the individuals through the loss of property, physical and psychological injuries. The conventional studies done on different nature crime was mostly related to laws, psychological, social and political themes. The geographical areas are heterogeneous in their environmental conditions, associations between structural conditions, social organization which contributing specific crimes. The crime pattern analysis is made through theories in which criminal events occurs in persistent, identifiable patterns in a particular space and time. It will be the combined analysis of spatial factors and rational factors to the crime. In this study, we are analyzing the combined factors for the origin of crime against children. Children have always been vulnerable to victimization more because they are silent victims both physically and mentally to crimes and they even not realize what is happening with them. Their trusting nature and innocence always misused by criminals to perform crimes. The nature of crime against children is changed in past years like child rape, kidnapping &abduction, selling & buying of girls, foeticide, infanticide, prostitution, child marriage etc turned to more cruel and inhuman. This study will focus on understanding the space-time pattern of crime against children during the period 2001-2012. It also makes an attempt to explore and ascertain the association of crimes categorised against children, its rates with various geographical and socio-demographic factors through causal analysis using selected indicators (child sex-ratio, education, literacy rate, employment, income, etc.) obtained from the Census of India and other government sources. The outcome of study will help identifying the high crime regions with specified nature of crimes. It will also review the existing efforts and exploring the new plausible measure for tracking, monitoring and minimization of crime rate to meet the end goal of protecting the children from crimes committed against them.

Keywords: crime against children, geographic profiling, spatio-temporal analysis, hotspot

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101 Exploring the Rhinoceros Beetles of a Tropical Forest of Eastern Himalayas

Authors: Subhankar Kumar Sarkar

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Beetles of the subfamily Dynastinae under the family Scarabaeidae of the insect order Coleoptera are popularly known as ‘Rhinoceros beetles’ because of the characteristic horn borne by the males on their head. These horns are dedicated in mating battle against other males and have evolved as a result of phenotypic plasticity. Scarabaeidae is the largest of all families under Coleoptera and is composed of 11 subfamilies, of which the subfamily Dynastinae is represented by approximately 300 species. Some of these beetles have been reported to cause considerable damage to agriculture and forestry both in their larval and adult stages, while many of them are beneficial as they pollinate plants and recycle plant materials. Eastern Himalayas is regarded as one of the 35 biodiversity hotspot zones of the world and one of the four of India, which is exhibited by its rich and megadiverse tropical forests. However, our knowledge on the faunal diversity of these forests is very limited, particularly for the insect fauna. One such tropical forest of Eastern Himalayas is the ‘Buxa Tiger Reserve’ located between latitudes 26°30” to 26°55” North and Longitudes 89°20” to 89˚35” East of India and occupies an area of about 759.26 square kilometers. It is with this background an attempt has been made to explore the insect fauna of the forest. Insect sampling was carried out in each beat and range of Buxa Tiger Reserve in all the three seasons viz, Premonsoon, Monsoon, and Postmonsoon. Sample collections were done by sweep nets, hand picking technique and pit fall traps. UV light trap was used to collect the nocturnal insects. Morphological examinations of the collected samples were carried out with Stereozoom Binocular Microscopes (Zeiss SV6 and SV11) and were identified up to species level with the aid of relevant literature. Survey of the insect fauna of the forest resulted in the recognition of 76 scarab species, of which 8 belong to the subfamily dealt herein. Each of the 8 species represents a separate genus. The forest is dominated by the members of Xylotrupes gideon (Linnaeus) as is represented by highest number of individuals. The recorded taxa show about 12% endemism and are of mainly oriental in distribution. Premonsoon is the most favorable season for their occurrence and activity followed by Monsoon and Postmonsoon.

Keywords: Dynastinae, Scarabaeidae, diversity, Buxa Tiger Reserve

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100 Non-Convex Multi Objective Economic Dispatch Using Ramp Rate Biogeography Based Optimization

Authors: Susanta Kumar Gachhayat, S. K. Dash

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Multi objective non-convex economic dispatch problems of a thermal power plant are of grave concern for deciding the cost of generation and reduction of emission level for diminishing the global warming level for improving green-house effect. This paper deals with ramp rate constraints for achieving better inequality constraints so as to incorporate valve point loading for cost of generation in thermal power plant through ramp rate biogeography based optimization involving mutation and migration. Through 50 out of 100 trials, the cost function and emission objective function were found to have outperformed other classical methods such as lambda iteration method, quadratic programming method and many heuristic methods like particle swarm optimization method, weight improved particle swarm optimization method, constriction factor based particle swarm optimization method, moderate random particle swarm optimization method etc. Ramp rate biogeography based optimization applications prove quite advantageous in solving non convex multi objective economic dispatch problems subjected to nonlinear loads that pollute the source giving rise to third harmonic distortions and other such disturbances.

Keywords: economic load dispatch, ELD, biogeography-based optimization, BBO, ramp rate biogeography-based optimization, RRBBO, valve-point loading, VPL

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99 High-Dimensional Single-Cell Imaging Maps Inflammatory Cell Types in Pulmonary Arterial Hypertension

Authors: Selena Ferrian, Erin Mccaffrey, Toshie Saito, Aiqin Cao, Noah Greenwald, Mark Robert Nicolls, Trevor Bruce, Roham T. Zamanian, Patricia Del Rosario, Marlene Rabinovitch, Michael Angelo

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Recent experimental and clinical observations are advancing immunotherapies to clinical trials in pulmonary arterial hypertension (PAH). However, comprehensive mapping of the immune landscape in pulmonary arteries (PAs) is necessary to understand how immune cell subsets interact to induce pulmonary vascular pathology. We used multiplexed ion beam imaging by time-of-flight (MIBI-TOF) to interrogate the immune landscape in PAs from idiopathic (IPAH) and hereditary (HPAH) PAH patients. Massive immune infiltration in I/HPAH was observed with intramural infiltration linked to PA occlusive changes. The spatial context of CD11c+DCs expressing SAMHD1, TIM-3 and IDO-1 within immune-enriched microenvironments and neutrophils were associated with greater immune activation in HPAH. Furthermore, CD11c-DC3s (mo-DC-like cells) within a smooth muscle cell (SMC) enriched microenvironment were linked to vessel score, proliferating SMCs, and inflamed endothelial cells. Experimental data in cultured cells reinforced a causal relationship between neutrophils and mo-DCs in mediating pulmonary arterial SMC proliferation. These findings merit consideration in developing effective immunotherapies for PAH.

Keywords: pulmonary arterial hypertension, vascular remodeling, indoleamine 2-3-dioxygenase 1 (IDO-1), neutrophils, monocyte-derived dendritic cells, BMPR2 mutation, interferon gamma (IFN-γ)

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98 Drug-Drug Plasma Protein Binding Interactions of Ivacaftor

Authors: Elena K. Schneider, Johnny X. Huang, Vincenzo Carbone, Mark Baker, Mohammad A. K. Azad, Matthew A. Cooper, Jian Li, Tony Velkov

Abstract:

Ivacaftor is a novel CF trans-membrane conductance regulator (CFTR) potentiator that improves the pulmonary function for cystic fibrosis patients bearing a G551D CFTR-protein mutation. Because ivacaftor is highly bound (>97%) to plasma proteins, there is the strong possibility that co-administered CF drugs that compete for the same plasma protein binding sites and impact the free drug concentration. This in turn could lead to drastic changes in the in vivo efficacy of ivacaftor and therapeutic outcomes. This study compares the binding affinity of ivacaftor and co-administered CF drugs for human serum albumin (HSA) and α1-acid glycoprotein (AGP) using surface plasmon resonance and fluorimetric binding assays that measure the displacement of site selective probes. Due to their high plasma protein binding affinities, drug-drug interactions between ivacaftor are to be expected with ducosate, montelukast, ibuprofen, dicloxacillin, omeprazole and loratadine. The significance of these drug-drug interactions is interpreted in terms of the pharmacodynamic/pharmacokinetic parameters and molecular docking simulations. The translational outcomes of the data are presented as recommendations for a staggered treatment regimen for future clinical trials which aims to maximize the effective free drug concentration and clinical efficacy of ivacaftor.

Keywords: human α-1-acid glycoprotein, binding affinity, human serum albumin, ivacaftor, cystic fibrosis

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97 A Second Order Genetic Algorithm for Traveling Salesman Problem

Authors: T. Toathom, M. Munlin, P. Sugunnasil

Abstract:

The traveling salesman problem (TSP) is one of the best-known problems in optimization problem. There are many research regarding the TSP. One of the most usage tool for this problem is the genetic algorithm (GA). The chromosome of the GA for TSP is normally encoded by the order of the visited city. However, the traditional chromosome encoding scheme has some limitations which are twofold: the large solution space and the inability to encapsulate some information. The number of solution for a certain problem is exponentially grow by the number of city. Moreover, the traditional chromosome encoding scheme fails to recognize the misplaced correct relation. It implies that the tradition method focuses only on exact solution. In this work, we relax some of the concept in the GA for TSP which is the exactness of the solution. The proposed work exploits the relation between cities in order to reduce the solution space in the chromosome encoding. In this paper, a second order GA is proposed to solve the TSP. The term second order refers to how the solution is encoded into chromosome. The chromosome is divided into 2 types: the high order chromosome and the low order chromosome. The high order chromosome is the chromosome that focus on the relation between cities such as the city A should be visited before city B. On the other hand, the low order chromosome is a type of chromosome that is derived from a high order chromosome. In other word, low order chromosome is encoded by the traditional chromosome encoding scheme. The genetic operation, mutation and crossover, will be performed on the high order chromosome. Then, the high order chromosome will be mapped to a group of low order chromosomes whose characteristics are satisfied with the high order chromosome. From the mapped set of chromosomes, the champion chromosome will be selected based on the fitness value which will be later used as a representative for the high order chromosome. The experiment is performed on the city data from TSPLIB.

Keywords: genetic algorithm, traveling salesman problem, initial population, chromosomes encoding

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96 Automated User Story Driven Approach for Web-Based Functional Testing

Authors: Mahawish Masud, Muhammad Iqbal, M. U. Khan, Farooque Azam

Abstract:

Manual writing of test cases from functional requirements is a time-consuming task. Such test cases are not only difficult to write but are also challenging to maintain. Test cases can be drawn from the functional requirements that are expressed in natural language. However, manual test case generation is inefficient and subject to errors.  In this paper, we have presented a systematic procedure that could automatically derive test cases from user stories. The user stories are specified in a restricted natural language using a well-defined template.  We have also presented a detailed methodology for writing our test ready user stories. Our tool “Test-o-Matic” automatically generates the test cases by processing the restricted user stories. The generated test cases are executed by using open source Selenium IDE.  We evaluate our approach on a case study, which is an open source web based application. Effectiveness of our approach is evaluated by seeding faults in the open source case study using known mutation operators.  Results show that the test case generation from restricted user stories is a viable approach for automated testing of web applications.

Keywords: automated testing, natural language, restricted user story modeling, software engineering, software testing, test case specification, transformation and automation, user story, web application testing

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95 Automatic Reporting System for Transcriptome Indel Identification and Annotation Based on Snapshot of Next-Generation Sequencing Reads Alignment

Authors: Shuo Mu, Guangzhi Jiang, Jinsa Chen

Abstract:

The analysis of Indel for RNA sequencing of clinical samples is easily affected by sequencing experiment errors and software selection. In order to improve the efficiency and accuracy of analysis, we developed an automatic reporting system for Indel recognition and annotation based on image snapshot of transcriptome reads alignment. This system includes sequence local-assembly and realignment, target point snapshot, and image-based recognition processes. We integrated high-confidence Indel dataset from several known databases as a training set to improve the accuracy of image processing and added a bioinformatical processing module to annotate and filter Indel artifacts. Subsequently, the system will automatically generate data, including data quality levels and images results report. Sanger sequencing verification of the reference Indel mutation of cell line NA12878 showed that the process can achieve 83% sensitivity and 96% specificity. Analysis of the collected clinical samples showed that the interpretation accuracy of the process was equivalent to that of manual inspection, and the processing efficiency showed a significant improvement. This work shows the feasibility of accurate Indel analysis of clinical next-generation sequencing (NGS) transcriptome. This result may be useful for RNA study for clinical samples with microsatellite instability in immunotherapy in the future.

Keywords: automatic reporting, indel, next-generation sequencing, NGS, transcriptome

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94 A Case of Osteopetrosis Diagnosed with Nystagmus

Authors: Zerrin Orbak, Busra Demir

Abstract:

Osteopetrosis is a rare genetic disease characterized by impaired bone resorption and increased bone sclerosis. Clinical presentation is very different in osteopetrosis. It can be asymptomatic or can be seen with typical symptoms. Here, a case of osteopetrosis was presented when evaluated for nystagmus. She was 10 months old. Parents were second-degree relatives. On physical examination, pigeon chest deformity and horizontal nystagmus were observed. There was a failure of thrive but no fracture. The cardiovascular examination was normal. Cranial, vertebral and long bone roentgenograms revealed characteristic deformities of osteopetrosis and diffuse sclerosis. The diagnosis was confirmed by genetic testing. A Homozygous mutation was detected in the TNFRSF11A gene (c.508A>G p.(Arg170Gly)). RANKL is encoded by the tumor necrosis factor ligand superfamily member 11 (TNFSF11) gene, and the binding to its receptor RANK, encoded by the TNFRSF11A gene, determines the activation of the downstream pathway that drives osteoclast differentiation and activation (51). The complete absence of osteoclasts is the key feature of the osteoclast-poor form of osteopetrosis (46). Patients are characterized by the absence of TRAP-positive osteoclasts in bone biopsies. The osteoclast-poor subtype of osteopetrosis caused by mutations in TNFSF11 gene is ultra-rare in humans. Clinical presentation is usually severe, with onset in early infancy or in fetal life. But here, a case was presented with horizontal nystagmus. A case presented with horizontal nystagmus, which was evaluated by neurology and diagnosed incidentally, was shared.

Keywords: osteopetrosis, nystagmus, bone, osteoclast-poor

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93 Habitat Preference of Lepidoptera (Butterflies), Using Geospatial Analysis in Diyasaru Wetland Park, Western Province, Sri Lanka

Authors: Hiripurage Mallika Sandamali Dissanayaka

Abstract:

Butterflies are found everywhere on Earth, helping flowering plants reproduce through pollination. Wetlands perform many valuable functions such as providing wildlife habitat. Diyasaru Wetland Park was chosen as the study site. It is located in a highly urbanized area of Sri Jayawardenepura Kotte, Sri Lanka. A distribution map was prepared to increase butterfly habitat in the urbanized area, and research was conducted to determine the most suitable sections for using it. As this wetland has footpaths for walking, line transect surveys were used to mark species within the sampling area, and directly observed species were recorded. All data collection was done from 0900 to 1200 hours and 1300 to 1600 hours and fieldwork was done from 11 February 2020 to 20 January 2021. ED binoculars (10.5x45), DSLR cameras (Canon EOS/EFS5 mm 3.5-5.6), and Garmin GPS (Etrex 10) were used to observe butterfly species, identify locations, and take photographs as evidence. Analyzing their habitats using GIS (ArcGIS Pro) to identify their distribution within the park premises, the distribution density of the known size of the population was calculated for each point by kernel density, and local similarity values were calculated for each pair of corresponding features through hotspot analysis, and cell values were determined by inverse distance weighting (IDW) using a linearly weighted combination of a set of sample points. According to the maps prepared to predict the distribution of butterflies in this park, the high level of distribution or favorable areas were near flower gardens and meadows, but some individual species prefer habitats that are more suitable for their life activities, so they live in other areas. Sixty-six (66) species belonging to six (6) families have been recorded in the premises. Sixty (60) species of least concern (LC), two (2) near threatened (NT), and four (4) vulnerable (VU) species have been recorded, and several new species, such as Plum Judy (Abisara echerius), were reported. The outcome of the study will form the basis for decision-making by the Sri Lanka Land Development (SLLD) Corporation for the future development and maintenance of the park.

Keywords: wetland, Lepidoptera, habitat, urban, west

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92 Early Diagnosis and Treatment of Cancer Using Synthetic Cationic Peptide

Authors: D. J. Kalita

Abstract:

Cancer is one of the prime causes of early death worldwide. Mutation of the gene involve in DNA repair and damage, like BRCA2 (Breast cancer gene two) genes, can be detected efficiently by PCR-RFLP to early breast cancer diagnosis and adopt the suitable method of treatment. Host Defense Peptide can be used as blueprint for the design and synthesis of novel anticancer drugs to avoid the side effect of conventional chemotherapy and chemo resistance. The change at nucleotide position 392 of a -› c in the cancer sample of dog mammary tumour at BRCA2 (exon 7) gene lead the creation of a new restriction site for SsiI restriction enzyme. This SNP may be a marker for detection of canine mammary tumour. Support vector machine (SVM) algorithm was used to design and predict the anticancer peptide from the mature functional peptide. MTT assay of MCF-7 cell line after 48 hours of post treatment showed an increase in the number of rounded cells when compared with untreated control cells. The ability of the synthesized peptide to induce apoptosis in MCF-7 cells was further investigated by staining the cells with the fluorescent dye Hoechst stain solution, which allows the evaluation of the nuclear morphology. Numerous cells with dense, pyknotic nuclei (the brighter fluorescence) were observed in treated but not in control MCF-7 cells when viewed using an inverted phase-contrast microscope. Thus, PCR-RFLP is one of the attractive approach for early diagnosis, and synthetic cationic peptide can be used for the treatment of canine mammary tumour.

Keywords: cancer, cationic peptide, host defense peptides, Breast cancer genes

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91 Insights Into Serotonin-Receptor Binding and Stability via Molecular Dynamics Simulations: Key Residues for Electrostatic Interactions and Signal Transduction

Authors: Arunima Verma, Padmabati Mondal

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Serotonin-receptor binding plays a key role in several neurological and biological processes, including mood, sleep, hunger, cognition, learning, and memory. In this article, we performed molecular dynamics simulation to examine the key residues that play an essential role in the binding of serotonin to the G-protein-coupled 5-HT₁ᴮ receptor (5-HT₁ᴮ R) via electrostatic interactions. An end-point free energy calculation method (MM-PBSA) determines the stability of the 5-HT1B R due to serotonin binding. The single-point mutation of the polar or charged amino acid residues (Asp129, Thr134) on the binding sites and the calculation of binding free energy validate the importance of these residues in the stability of the serotonin-receptor complex. Principal component analysis indicates the serotonin-bound 5-HT1BR is more stabilized than the apo-receptor in terms of dynamical changes. The difference dynamic cross-correlations map shows the correlation between the transmembrane and mini-Go, which indicates signal transduction happening between mini-Go and the receptor. Allosteric communication reveals the key nodes for signal transduction in 5-HT1BR. These results provide useful insights into the signal transduction pathways and mutagenesis study to regulate the functionality of the complex. The developed protocols can be applied to study local non-covalent interactions and long-range allosteric communications in any protein-ligand system for computer-aided drug design.

Keywords: allostery, CADD, MD simulations, MM-PBSA

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90 Climate Change Adaptation Strategy Recommended for the Conservation of Biodiversity in Western Ghats, India

Authors: Mukesh Lal Das, Muthukumar Muthuchamy

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Climate change Adaptation strategy (AS) is a scientific approach to dealing with the impacts of climate change (CC). Efforts are being made to contain the global emission of greenhouse gas within threshold limits, thereby limiting the rise of global temperature to an optimal level. Global Climate change is a spontaneous process; therefore, reversing the damage would take decades. The climate change adaptation strategy recommended by various stakeholders could be a key to resilience for biodiversity. The Indian Government has constituted the panel to synthesize the climate change action report at the federal and state levels. This review scavenged the published literature on the Western Ghats hotspots. And highlight the adaptation strategy recommended by diverse scientific actors to conserve biodiversity. It also reviews the grey literature adopted by state and federal governments and its effectiveness in mitigating the impacts on biodiversity. We have narrowed the scope of interest to the state action report by 6 Indian states such as Gujarat, Maharashtra, Goa, Karnataka, Kerala and Tamil Nadu, which host Western Ghats global biodiversity hotspot. Western Ghats(WGs) act as the water tower to the peninsular part of India, and its extensive watershed caters to the water demand of the Industry sector, Agriculture and urban community. Conservation of WGs is the key to the prosperity of Peninsular India. The global scientific community suggested more than 600+ Climate change adaptation strategies for the policymakers, stakeholders, and other state actors to take proactive actions. The preliminary analysis of the federal and the state action plan on climate change in the wake of CC indicate inadequacy in motion as per recommended scientific adaptation strategies. Tamil Nadu and Kerala state constitute nine effective adaptation strategies out of the 40+ recommended for Western Ghats conservation. And other four states' adaptation strategies are deficient, confusing and vague. Western Ghats' resilience capacity will soon or might have reached its threshold, and the frequency of severe drought and flash floods might upsurge manifold in the decades to come. The lack of a clear roadmap to climate change adaptation strategies in the federal and state action stirred us to identify the gap and address it by offering a holistic approach to WGs biodiversity conservation.

Keywords: adaptation strategy, biodiversity conservation, climate change, resilience, Western Ghats

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89 Sequence Polymorphism and Haplogroup Distribution of Mitochondrial DNA Control Regions HVS1 and HVS2 in a Southwestern Nigerian Population

Authors: Ogbonnaya O. Iroanya, Samson T. Fakorede, Osamudiamen J. Edosa, Hadiat A. Azeez

Abstract:

The human mitochondrial DNA (mtDNA) is about 17 kbp circular DNA fragments found within the mitochondria together with smaller fragments of 1200 bp known as the control region. Knowledge of variation within populations has been employed in forensic and molecular anthropology studies. The study was aimed at investigating the polymorphic nature of the two hypervariable segments (HVS) of the mtDNA, i.e., HVS1 and HVS2, and to determine the haplogroup distribution among individuals resident in Lagos, Southwestern Nigeria. Peripheral blood samples were obtained from sixty individuals who are not related maternally, followed by DNA extraction and amplification of the extracted DNA using primers specific for the regions under investigation. DNA amplicons were sequenced, and sequenced data were aligned and compared to the revised Cambridge Reference Sequence (rCRS) GenBank Accession number: NC_012920.1) using BioEdit software. Results obtained showed 61 and 52 polymorphic nucleotide positions for HVS1 and HVS2, respectively. While a total of three indels mutation were recorded for HVS1, there were seven for HVS2. Also, transition mutations predominate nucleotide change observed in the study. Genetic diversity (GD) values for HVS1 and HVS2 were estimated to be 84.21 and 90.4%, respectively, while random match probability was 0.17% for HVS1 and 0.89% for HVS2. The study also revealed mixed haplogroups specific to the African (L1-L3) and the Eurasians (U and H) lineages. New polymorphic sites obtained from the study are promising for human identification purposes.

Keywords: hypervariable region, indels, mitochondrial DNA, polymorphism, random match probability

Procedia PDF Downloads 89