Search results for: DNA variants

Authors: B. Padmaja, V. V. Rama Prasad, K. V. N. Sunitha, E. Krishna Rao Patro

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Stress is a psychological condition that reduces the quality of sleep and affects every facet of life. Constant exposure to stress is detrimental not only for mind but also body. Nevertheless, to cope with stress, one should first identify it. This paper provides an effective method for the cognitive stress level detection by using data provided from a physical activity tracker device Fitbit. This device gathers people’s daily activities of food, weight, sleep, heart rate, and physical activities. In this paper, four major stressors like physical activities, sleep patterns, working hours and change in heart rate are used to assess the stress levels of individuals. The main motive of this system is to use machine learning approach in stress detection with the help of Smartphone sensor technology. Individually, the effect of each stressor is evaluated using logistic regression and then combined model is built and assessed using variants of ordinal logistic regression models like logit, probit and complementary log-log. Then the quality of each model is evaluated using Akaike Information Criterion (AIC) and probit is assessed as the more suitable model for our dataset. This system is experimented and evaluated in a real time environment by taking data from adults working in IT and other sectors in India. The novelty of this work lies in the fact that stress detection system should be less invasive as possible for the users.

Keywords: physical activity tracker, sleep pattern, working hours, heart rate, smartphone sensor

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Authors: Jose Marie E. Ocdenaria, Riceli C. Mendoza

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Culturally, languages meet, merge, share, exchange, appropriate, donate, and divide in and to and from each other. Further, this type of recurrence manifests in East Asian cultures, where language influence diffuses across geographical proximities. Historically, China has notable impacts on Japan’s culture. For instance, Japanese borrowed words from China and their way of reading and writing. This qualitative and descriptive employing contrastive analysis study addressed the true and false cognates of Japanese-Philippine languages and Chinese-Philippine languages. It involved a rich collection of data from various sources like textual pieces of evidence or corpora to gain a deeper understanding of true and false cognates between L1 and L2. Cognates of Japanese-Philippine languages and Chinese-Philippine languages were analyzed contrastively according to orthography, phonology, and semantics. The words presented were the roots; however, derivatives, reduplications, and variants of stress were included when they shed emphases on the comparison. The basis of grouping the cognates was its phonetic-semantic resemblance. Based on the analysis, it revealed that there are words which may have several types of lexical relationship. Further, the study revealed that the Japanese language has more false cognates in the Philippine languages, particularly in Tagalog and Cebuano. On the other hand, there are more true cognates of Chinese in Tagalog. It is the hope of this study to provide a significant contribution to a diverse audience. These include the teachers and learners of foreign languages such as Japanese and Chinese, future researchers and investigators, applied linguists, curricular theorists, community, and publishers.

Keywords: Contrastive Analysis, Japanese, Chinese and Philippine languages, Qualitative and descriptive study, True and False Cognates

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Authors: Jerry John T. M., Sylas V. P., Shijo Joy

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Hydrogen is the most essential gas that can be used for many purposes. During the production of hydrogen using raw materials like Soil and leftover cooked rice water (kanjivellam), the major by-product formed is water. Soil is collected from three different places in kottayam district: Kallara, Meenachilar, and Athirampuzha. Collected samples are mixed with rice water and tested for traces of hydrogen using a biohydrogen sensor after 72 hours. The result was the presence of hydrogen in all the 3 samples. After streaking, PCR and gel electrophoresis detected the bacteria which produced the hydrogen. RGCB Thiruvananthapuram conducted the sequencing of the PCR resultant. And identified the bacterial strains. Five variants of Bacillus bacteria ( (1) Bacillus cereus strain JTM GenBank: OP278839.1 (2) Bacillus toyonensis strain JTM2 GenBank: OP278841.1 (3) Bacillus anthracis strain JTM_SR2989-3-R_H08 GenBank: OP278960.1 (4) Bacillus thuringiensis strain JRY1 GenBank: OP278976.1 (5) Bacillus anthracis strain JTM_SR2989-3-F_H07 GenBank: OP278959.1 ) are identified and successfully registered in NCBI Gen bank. These Bacillus bacteria are major types of Rhizobacteria that can form spores and can survive in the soil for a long time period under harsh environmental conditions. Also, plant growth is enhanced by PGPR (Plant growth promoting rhizobacteria) through the induction of systemic resistance, antibiosis, and competitive omission. The molecular sequencing was submitted to the NCBI Gen Bank, and the accession numbers were allotted for the bacterial cultures.

Keywords: bio hydrogen production, bacterial bio hydrogen production, plant related to bacillus bacteria., bacillus bacteria study

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Authors: Ha T. T. Ly, Truc B. Truc, Hai N. Truong, Mai P. T. Nguyen, Ngoc D. Ngo, Khanh V. Tran, Hai T. Le

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Beta thalassemia is one of the most common inherited blood disorders, which is characterized by decreased or absent in beta globin expression. Patients with Beta thalassemia whose anemia is not so severe as to necessitate transfusions are said to have thalassemia intermedia. Objective: The goal of this study is prenatal diagnosis for pregnancy woman with Beta thalassemia intermedia and her husband with Beta thalassemia carrier at high risk of Beta thalassemia major in Northern of Vietnam. Material and method: The family has a 6 years-old compound heterozygous thalassemia major for CD71/72(+A) and Hbb:c. -78A>G/nt-28(A>G) male child. The father was heterozygous for CD71/72(+A) mutation which is Beta plus type and the mother was compound heterozygosity of two different variants, namely, Hbb: c. -78A>G/nt-28(A>G) and CD26(A-G) HbE. Prenatal Beta thalassemia mutation detection in fetal DNA was carried out using multiplex Amplification-refractory mutation system ARMS-PCR and confirmed by direct Sanger-sequencing Hbb gene. Prenatal diagnoses were perfomed by amniotic fluid sampling from pregnant woman in the 16-18th week of pregnancy after the genotypes of parents of the probands were identified. Result: When amniotic fluid sample was analyzed for Beta globin gene (Hbb), we found that the genotype is heterozygous for CD71/72(+A) and CD26(A-G) HbE. This genotype is different from the 1st child of this family. Conclusion: Prenatal diagnosis helps the parents to know the genotype and the thalassemia status of the fetus, so they can have early decision on their pregnancy. Genetic diagnosis provided a useful method in diagnosis for familial members in pedigree, genetic counseling and prenatal diagnosis.

Keywords: beta thalassemia intermedia, Hbb gene, pedigree, prenatal diagnosis

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Authors: Olivier Delage, Hassan Bencherif, Alain Bourdier

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Signal decomposition approaches represent an important step in time series analysis, providing useful knowledge and insight into the data and underlying dynamics characteristics while also facilitating tasks such as noise removal and feature extraction. As most of observational time series are nonlinear and nonstationary, resulting of several physical processes interaction at different time scales, experimental time series have fluctuations at all time scales and requires the development of specific signal decomposition techniques. Most commonly used techniques are data driven, enabling to obtain well-behaved signal components without making any prior-assumptions on input data. Among the most popular time series decomposition techniques, most cited in the literature, are the empirical mode decomposition and its variants, the empirical wavelet transform and singular spectrum analysis. With increasing popularity and utility of these methods in wide ranging applications, it is imperative to gain a good understanding and insight into the operation of these algorithms. In this work, we describe all of the techniques mentioned above as well as their ability to denoise signals, to capture trends, to identify components corresponding to the physical processes involved in the evolution of the observed system and deduce the dimensionality of the underlying dynamics. Results obtained with all of these methods on experimental total ozone columns and rainfall time series will be discussed and compared

Keywords: denoising, empirical mode decomposition, singular spectrum analysis, time series, underlying dynamics, wavelet analysis

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Authors: R. Pravin Kumar, L. Roopa

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Enzymes are molecular machines used in various industries such as pharmaceuticals, cosmetics, food and animal feed, paper and leather processing, biofuel, and etc. Nevertheless, this has been possible only by the breath-taking efforts of the chemists and biologists to evolve/engineer these mysterious biomolecules to work the needful. Main agenda of this enzyme engineering project is to derive screening and selection tools to obtain focused libraries of enzyme variants with desired qualities. The methodologies for this research include the well-established directed evolution, rational redesign and relatively less established yet much faster and accurate insilico methods. This concept was initiated as a Receptor Rependent-4Dimensional Quantitative Structure Activity Relationship (RD-4D-QSAR) to predict kinetic properties of enzymes and extended here to study transaminase by a 7D QSAR approach. Induced-fit scenarios were explored using Quantum Mechanics/Molecular Mechanics (QM/MM) simulations which were then placed in a grid that stores interactions energies derived from QM parameters (QMgrid). In this study, the mutated enzymes were immersed completely inside the QMgrid and this was combined with solvation models to predict descriptors. After statistical screening of descriptors, QSAR models showed > 90% specificity and > 85% sensitivity towards the experimental activity. Mapping descriptors on the enzyme structure revealed hotspots important to enhance the enantioselectivity of the enzyme.

Keywords: QMgrid, QM/MM simulations, RD-4D-QSAR, transaminase

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Authors: Mayank, Navneet Kaur, Narinder Singh

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The V599 mutations in the BRAF protein are extremely oncogenic, responsible for countless of malignant conditions. Along with wild type, V599E, V599D, and V599R are the important mutated variants of the BRAF proteins. The BRAF inhibitory anticancer agents are continuously developing, and sorafenib is a BRAF inhibitor that is under clinical use. The crystal structure of sorafenib bounded to wild type, and V599 is known, showing a similar interaction pattern in both the case. The mutated 599th residue, in both the case, is also found not interacting directly with the co-crystallized sorafenib molecule. However, the IC50 value of sorafenib was found extremely different in both the case, i.e., 22 nmol/L for wild and 38 nmol/L for V599E protein. Molecular docking study and MMGBSA binding energy results also revealed a significant difference in the binding pattern of sorafenib in both the case. Therefore, to explore the role of distinctively situated 599th residue, we have further conducted comprehensive computational studies. The molecular dynamics simulation, residue interaction network (RIN) analysis, and residue correlation study results revealed the importance of the 599th residue on the therapeutic outcome and overall dynamic of the BRAF protein. Therefore, although the position of 599th residue is very much distinctive from the ligand-binding cavity of BRAF, still it has exceptional control over the overall functional outcome of the protein. The insight obtained here may seem extremely important and guide us while designing ideal BRAF inhibitory anticancer molecules.

Keywords: BRAF, oncogenic, sorafenib, computational studies

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Authors: Dipanshu Sur, Ratnabali Chakravorty

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Background: Polycystic ovary syndrome (PCOS) is the most common metabolic abnormality such as changes in lipid profile, diabetes, hypertension and metabolic syndrome occurring in young women of reproductive age. Low vitamin D levels were found to be associated with the development of obesity and insulin resistance in women with PCOS. Variants on vitamin D receptor (VDR) gene have also been related to metabolic comorbidities in general population. Aim: The aim of this case-control study was to investigate whether the VDR gene polymorphisms are associated with susceptibility to PCOS. Methods: Women with PCOS and a control group, all aged 16-40 years, were enrolled. Genotyping of VDR Fok-I (rs2228570), VDR Apa-I (rs7975232) as well as GC (rs2282679), DHCR7 (rs12785878) SNPs between groups were determined by using direct sequencing. Serum 25-hydroxyvitamin D [25(OH)] levels were measured by ELISA. Results: Mean serum 25(OH)D in the PCOS and control samples were 19.08±7 and 23.27±6.03 (p=0.048) which were significantly lower in PCOS patients compared with controls. CC genotype of the VDR Apa-I SNP was same frequent in PCOS (25.6%) and controls (25.6%) (OR: 0.9995; 95%CI: 0.528 to 1.8921; p= 0.9987). The CC genotype was also significantly associated with both lower E2 (p=0.031) and Androstenedione levels (p=0.062). We observed a significant association of GC polymorphism with 25(OH)D levels. PCOS women carrying the GG genotype (in GC genes) had significantly higher risk for vitamin D deficiency than women carrying the TT genotype. Conclusions: In conclusion, data from this study indicate that vitamin D levels are lower, and vitamin D deficiency more frequent, in PCOS than in controls. The present findings suggest that the Apa-I, Fok-I polymorphism of the VDR gene is associated with PCOS and seems to modulate ovarian steroid secretion. Further studies are needed to better clarify the biological mechanisms by which the polymorphism influences PCOS risk.

Keywords: vitamin D receptor, polymorphism, vitamin D, polycystic ovary syndrome

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Authors: Rozeena Shaikh, Syed M Shahid, Jamil Ahmad, Qaisar Mansoor, Muhammad Ismail, Abid Azhar

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Introduction: Diabetes mellitus (DM) is a prevalent non-communicable disease worldwide. In most high-income countries as well as middle-income and low- income countries. DM is among the top causes of deaths. DM may lead to many vascular complications like hypertension, nephropathy, retinopathy, neuropathy, and foot. Diabetic nephropathy (DN) characterized by persistent albuminuria is a leading cause of end stage renal failure (ESRF). Pathogenesis of diabetic nephropathy is implicated by the polymorphisms in genes encoding the components of reninangiotensin- aldosteron system (RAAS) which include angiotensinogen (AGT), angiotensin-II receptor and particularly angiotensin converting enzyme (ACE) gene. Method: Study subjects include 110 control, 110 patients with DM without hypertension, 110 patients with DM with hypertension and 110 patients with DN. Blood samples were collected for Biochemical analysis and PCR and sequencing for the specific region of both genes. Results: The frequency of DD genotype and D allele of ACE (I/D) was significantly (p<0.05) high in DM normotensive, DM hypertensive and DN patients when compared to control. The ACE G2350A genotypes and allele frequencies were significantly different (p<0.05) in DM hypertensive patients as compared to control and DN, while no difference was observed between DM normotensive and DN when compared to control. The genotypes and alleles of AGT (M268T) polymorphism were significantly different (p<0.05) in DM normotensive, DM hypertensive and DN when compared to control. Conclusion: The DD genotype and D allele of ACE (I/D), GG genotype and G allele of ACE (G2350A) and the TT genotype and T allele of AGT (M268T) polymorphism have shown a significant difference in genotype and allele frequencies between controls and patients.

Keywords: genetic variations, ACE, AGT, diabetes mellitus, diabetic nephropathy, Pakistan

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Authors: Lokendra Kumar Devangan, Ajay Mishra

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This paper describes the implementation of a large-scale SAS/OR model with significant pre-processing, scenario analysis, and post-processing work done using SAS. A large cement manufacturer with ten geographically distributed manufacturing plants for two variants of cement, around 400 warehouses serving as transshipment points, and several thousand distributor locations generating demand needed to optimize this multi-echelon, multi-modal transport supply chain separately for planning and allocation purposes. For monthly planning as well as daily allocation, the demand is deterministic. Rail and road networks connect any two points in this supply chain, creating tens of thousands of such connections. Constraints include the plant’s production capacity, transportation capacity, and rail wagon batch size constraints. Each demand point has a minimum and maximum for shipments received. Price varies at demand locations due to local factors. A large mixed integer programming model built using proc OPTMODEL decides production at plants, demand fulfilled at each location, and the shipment route to demand locations to maximize the profit contribution. Using base SAS, we did significant pre-processing of data and created inputs for the optimization. Using outputs generated by OPTMODEL and other processing completed using base SAS, we generated several reports that went into their enterprise system and created tables for easy consumption of the optimization results by operations.

Keywords: production planning, mixed integer optimization, network model, network optimization

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Authors: Travis Morris

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The purpose of this study is to measure the intersection of environmental security entities in terrorist propaganda. To the best of author’s knowledge, this is the first study of its kind to examine this intersection within terrorist propaganda. Rosoka, natural language processing software and frame analysis are used to advance our understanding of how environmental frames function as emotive triggers. Violent jihadi demagogues use frames to suggest violent and non-violent solutions to their grievances. Emotive triggers are framed in a way to leverage individual and collective attitudes in psychological warfare. A comparative research design is used because of the differences and similarities that exist between two variants of violent jihadi propaganda that target western audiences. Analysis is based on salience and network text analysis, which generates violent jihadi semantic networks. Findings indicate that environmental frames are used as emotive triggers across both data sets, but also as tactical and information data points. A significant finding is that certain core environmental emotive triggers like “water,” “soil,” and “trees” are significantly salient at the aggregate level across both data sets. All environmental entities can be classified into two categories, symbolic and literal. Importantly, this research illustrates how demagogues use environmental emotive triggers in cyber space from a subcultural perspective to mobilize target audiences to their ideology and praxis. Understanding the anatomy of propaganda construction is necessary in order to generate effective counter narratives in information operations. This research advances an additional method to inform practitioners and policy makers of how environmental security and propaganda intersect.

Keywords: propaganda analysis, emotive triggers environmental security, frames

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Authors: Larisa Gheber

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Mitosis is an essential process by which duplicated genetic information is transmitted from mother to daughter cells. Incorrect chromosome segregation during mitosis can lead to genetic diseases, chromosome instability and cancer. This process is mediated by a dynamic microtubule-based intracellular structure, the mitotic spindle. One of the major factors that govern the mitotic spindle dynamics are the kinesin-5 biological nano motors that were believed to move unidirectionally on the microtubule filaments, using ATP hydrolysis, thus performing essential functions in mitotic spindle dynamics. Surprisingly, several reports from our and other laboratories have demonstrated that some kinesin-5 motors are bi-directional: they move in minus-end direction on the microtubules as single-molecules and can switch directionality under a number of conditions. These findings broke a twenty-five-years old dogma regarding kinesin directionality (1, 2). The mechanism of this bi-directional motility and its physiological significance remain unclear. To address this unresolved problem, we apply an interdisciplinary approach combining live cell imaging, biophysical single molecule, and structural experiments to examine the activity of these motors and their mutated variants in vivo and in vitro. Our data shows that factors such as protein phosphorylation (3, 4), motor clustering on the microtubules (5, 6) and structural elements (7, 8) regulate the bi-directional motility of kinesin motors. We also show, using Cryo-EM, that bi-directional kinesin motors obtain non-canonical microtubule binding, which is essential to their special motile properties and intracellular functions. We will discuss the implication of these findings to mechanism bi-directional motility and physiological roles in mitosis.

Keywords: mitosis, cancer, kinesin, microtubules, biochemistry, biophysics

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Authors: Damaris Estrella Castillo, Zacil ha Vilchis Zapata, Leydi Peraza Gómez

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Hearing loss is an etiologically heterogeneous condition, where almost 60% is genetic in origin, 20% is due to environmental factors, and 20% have unknown causes. However, it is now known that the gene, GJB2, which encodes the connexin 26 protein, accounts for a large percentage of non-syndromic genetic hearing loss, and variants in this gene have been identified to be a common cause of hereditary hearing loss in many populations. The literature reports that the etiology in deafness helps improve family functioning but low-income countries this is difficult. Therefore, it is difficult to contribute the right of families to know about the genetic risk in future pregnancies as well as determining the certainty of being a carrier or affected. In order to assess the impact of genetic counseling and the functionality, 100 families with at least one child with profound hearing loss, were evaluated by specialists in audiology, clinical genetics and psychology. Targeted mutation analysis for one of the two known large deletions of upstream of GJB2/GJB6 gene (35delG; and including GJB2 regulatory sequences and GJB6) were performed in patients with diagnosis of non-syndromic hearing loss. Genetic counseling was given to all parents and primary caregivers, and APGAR family test was applied before and after the counseling. We analyzed a total of 300 members (children, parents) to determine the presence of the GJB2 gene mutation. Twelve patients (carriers and affected) were positive for the mutation, from 5 different families. The subsequent family APGAR testing and genetic counseling, showed that 14% perceived their families as functional, 62 % and 24 % moderately functional dysfunctional. This shows the importance of genetic counseling in the perception of family function that can directly impact the quality of life of these families.

Keywords: family dynamics, deafness, APGAR, counseling

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Authors: S. V. Boroznin, I. V. Zaporotskova, N. P. Polikarpova

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Studing of nanotubes sorption properties is very important for researching. These processes for carbon and boron nanotubes described in the high number of papers. But the sorption properties of boron containing nanotubes, susch as BC3-nanotubes haven’t been studied sufficiently yet. In this paper we present the results of theoretical research into the mechanism of atomic surface adsorption on the two types of boron-carbon nanotubes (BCNTs) within the framework of an ionic-built covalent-cyclic cluster model and an appropriately modified MNDO quantum chemical scheme and DFT method using B3LYP functional with 6-31G basis. These methods are well-known and the results, obtained using them, were in good agreement with the experiment. Also we studied three position of atom location above the nanotube surface. These facts suggest us to use them for our research and quantum-chemical calculations. We studied the mechanism of sorption of Cl, O and F atoms on the external surface of single-walled BC3 arm-chair nanotubes. We defined the optimal geometry of the sorption complexes and obtained the values of the sorption energies. Analysis of the band structure suggests that the band gap is insensitive to adsorption process. The electron density is located near atoms of the surface of the tube. Also we compared our results with others, which have been obtained earlier for pure carbon and boron nanotubes. The most stable adsorption complex has been between boron-carbon nanotube and oxygen atom. So, it suggests us to make a research of oxygen molecule adsorption on the BC3 nanotube surface. We modeled five variants of molecule orientation above the nanotube surface. The most stable sorption complex has been defined between the oxygen molecule and nanotube when the oxygen molecule is located above the nanotube surface perpendicular to the axis of the tube.

Keywords: Boron-carbon nanotubes, nanostructures, nanolayers, quantum-chemical calculations, nanoengineering

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Authors: Zhidong Zhang

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This study established a mixed method model in assessing statistics learning with Bayesian network models. There are three variants in exploratory sequential designs. There are three linked steps in one of the designs: qualitative data collection and analysis, quantitative measure, instrument, intervention, and quantitative data collection analysis. The study used a scoring model of analysis of variance (ANOVA) as a content domain. The research study is to examine students’ learning in both semantic and performance aspects at fine grain level. The ANOVA score model, y = α+ βx1 + γx1+ ε, as a cognitive task to collect data during the student learning process. When the learning processes were decomposed into multiple steps in both semantic and performance aspects, a hierarchical Bayesian network was established. This is a theory-driven process. The hierarchical structure was gained based on qualitative cognitive analysis. The data from students’ ANOVA score model learning was used to give evidence to the hierarchical Bayesian network model from the evidential variables. Finally, the assessment results of students’ ANOVA score model learning were reported. Briefly, this was a mixed method research design applied to statistics learning assessment. The mixed methods designs expanded more possibilities for researchers to establish advanced quantitative models initially with a theory-driven qualitative mode.

Keywords: exploratory sequential design, ANOVA score model, Bayesian network model, mixed methods research design, cognitive analysis

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Authors: Techale B., Hongxu Dong, Mihrete Getinet, Aregash Gabizew, Andrew H. Paterson, Kassahun Bantte

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The genetic architecture of drought tolerance is expected to involve multiple loci that are unlikely to all segregate for alternative alleles in a single bi-parental population. Therefore, the identification of quantitative trait loci (QTL) that are expressed in diverse genetic backgrounds of multiple bi-parental populations provides evidence about both background-specific and common genetic variants. The purpose of this study was to map QTL related to drought tolerance using three connected mapping populations of different genetic backgrounds to gain insight into the genomic landscape of this important trait in elite Ethiopian germplasm. The three bi-parental populations, each with 207 F₂:₃ lines, were evaluated using an alpha lattice design with two replications under two moisture stress environments. Drought tolerance related traits were analyzed separately for each population using composite interval mapping, finding a total of 105 QTLs. All the QTLs identified from individual populations were projected on a combined consensus map, comprising a total of 25 meta QTLs for seven traits. The consensus map allowed us to deduce locations of a larger number of markers than possible in any individual map, providing a reference for genetic studies in different genetic backgrounds. The mQTL identified in this study could be used for marker-assisted breeding programs in sorghum after validation. Only one trait, reduced leaf senescence, showed a striking bias of allele distribution, indicating substantial standing variation among present varieties that might be employed in improving drought tolerance of Ethiopian and other sorghums.

Keywords: Drought tolerance , Mapping populations, Meta QTL, QTL mapping, Sorghum

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Authors: Janos Juhasz, Sandor Pongor, Balazs Ligeti

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Next-generation sequencing, especially whole genome shotgun sequencing, is becoming a common approach to gain insight into the microbiomes in a culture-independent way, even in clinical practice. It does not only give us information about the species composition of an environmental sample but opens the possibility to detect antimicrobial resistance and novel, or currently unknown, pathogens. Accurately and reliably detecting the microbial strains is a challenging task. Here we present a sensitive approach for detecting pathogens in metagenomics samples with special regard to detecting novel variants of known pathogens. We have developed a pipeline that uses fast, short read aligner programs (i.e., Bowtie2/BWA) and comprehensive nucleotide databases. Taxonomic binning is based on the lowest common ancestor (LCA) principle; each read is assigned to a taxon, covering the most significantly hit taxa. This approach helps in balancing between sensitivity and running time. The program was tested both on experimental and synthetic data. The results implicate that our method performs as good as the state-of-the-art BLAST-based ones, furthermore, in some cases, it even proves to be better, while running two orders magnitude faster. It is sensitive and capable of identifying taxa being present only in small abundance. Moreover, it needs two orders of magnitude less reads to complete the identification than MetaPhLan2 does. We analyzed an experimental anthrax dataset (B. anthracis strain BA104). The majority of the reads (96.50%) was classified as Bacillus anthracis, a small portion, 1.2%, was classified as other species from the Bacillus genus. We demonstrate that the evaluation of high-throughput sequencing data is feasible in a reasonable time with good classification accuracy.

Keywords: metagenomics, taxonomy binning, pathogens, microbiome, B. anthracis

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Authors: Syed Toqueer Akhter, Rabia Zulfiqar

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This paper attempts to trace the determining factor- as far as individual preferences and expectations are concerned- of what causes the direction of international migration to drift in certain ways owing to factors such as Religiosity and Cultural Assimilation. The narrative on migration has graduated from the age long ‘push/pull’ debate to that of complex factors that may vary across each individual. We explore the longstanding factor of religiosity widely acknowledged in mentioned literature as a key variable in the assessment of migration, wherein the impact of religiosity in the form of a drift into the intent of migration has been analyzed. A more conventional factor cultural assimilation is used in a contemporary way to estimate how it plays a role in affecting the drift in direction. In particular what our research aims at achieving is to isolate the effect our key variables: Cultural Assimilation and Religiosity have on direction of migration, and to explore how they interplay as a composite unit- and how we may be able to justify the change in behavior displayed by these key variables. In order to establish a true sense of what drives individual choices we employ the method of survey research and use a questionnaire to conduct primary research. The questionnaire was divided into six sections covering subjects including household characteristics, perceptions and inclinations of the respondents relevant to our study. Religiosity was quantified using a proxy of Migration Network that utilized secondary data to estimate religious hubs in recipient countries. To estimate the relationship between Intent of Migration and its variants three competing econometric models namely: the Ordered Probit Model, the Ordered Logit Model and the Tobit Model were employed. For every model that included our key variables, a highly significant relationship with the intent of migration was estimated.

Keywords: international migration, drift in direction, cultural assimilation, religiosity, ordered probit model

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Authors: Jianhua Zhang, Weiping Chen, Guanjie Chen, Jason Flannick, Emma Fikse, Glenda Smerin, Yanqin Yang, Yulong Li, John A. Hanover, William F. Simonds

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Ethnic disparities in many diseases are well recognized and reflect the consequences of genetic, behavior, and environmental factors. However, direct scientific evidence connecting the ethnic genetic variations and the disease disparities has been elusive, which may have led to the ethnic inequalities in large scale genetic studies. Through the genome-wide analysis of data representing 185,934 subjects, including 14,955 from our own studies of the African America Diabetes Mellitus, we discovered sets of genetic variants either unique to or conserved in all ethnicities. We further developed a quantitative gene function-based high-risk variant index (hrVI) of 20,428 genes to establish profiles that strongly correlate with the subjects' self-identified ethnicities. With respect to the ability to detect human essential and pathogenic genes, the hrVI analysis method is both comparable with and complementary to the well-known genetic analysis methods, pLI and VIRlof. Application of the ethnicity-specific hrVI analysis to the type 2 diabetes mellitus (T2DM) national repository, containing 20,791 cases and 24,440 controls, identified 114 candidate T2DM-associated genes, 8.8-fold greater than that of ethnicity-blind analysis. All the genes identified are defined as either pathogenic or likely-pathogenic in ClinVar database, with 33.3% diabetes-associated and 54.4% obesity-associated genes. These results demonstrate the utility of hrVI analysis and provide the first genetic evidence by clustering patterns of how genetic variations among ethnicities may impede the discovery of diabetes and foreseeably other disease-associated genes.

Keywords: diabetes-associated genes, ethnic health disparities, high-risk variant index, hrVI, T2DM

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Authors: Abeer A. Aljohani

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COVID-19 virus spread has been one of the extreme pandemics across the globe. It is also referred to as coronavirus, which is a contagious disease that continuously mutates into numerous variants. Currently, the B.1.1.529 variant labeled as omicron is detected in South Africa. The huge spread of COVID-19 disease has affected several lives and has surged exceptional pressure on the healthcare systems worldwide. Also, everyday life and the global economy have been at stake. This research aims to predict COVID-19 disease in its initial stage to reduce the death count. Machine learning (ML) is nowadays used in almost every area. Numerous COVID-19 cases have produced a huge burden on the hospitals as well as health workers. To reduce this burden, this paper predicts COVID-19 disease is based on the symptoms and medical history of the patient. This research presents a unique architecture for COVID-19 detection using ML techniques integrated with feature dimensionality reduction. This paper uses a standard UCI dataset for predicting COVID-19 disease. This dataset comprises symptoms of 5434 patients. This paper also compares several supervised ML techniques to the presented architecture. The architecture has also utilized 10-fold cross validation process for generalization and the principal component analysis (PCA) technique for feature reduction. Standard parameters are used to evaluate the proposed architecture including F1-Score, precision, accuracy, recall, receiver operating characteristic (ROC), and area under curve (AUC). The results depict that decision tree, random forest, and neural networks outperform all other state-of-the-art ML techniques. This achieved result can help effectively in identifying COVID-19 infection cases.

Keywords: supervised machine learning, COVID-19 prediction, healthcare analytics, random forest, neural network

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Authors: Angelis P. Barlampas

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Theoretical background Disorders of fixation and rotation of the large intestine, result in the existence of its parts in ectopic anatomical positions. In case of symptomatology, the clinical picture is complicated by the possible symptomatology of the neighboring anatomical structures and a differential diagnostic problem arises. Target The purpose of this work is to demonstrate the difficulty of revealing the real cause of abdominal pain, in cases of anatomical variants and the decisive contribution of imaging and especially that of computed tomography. Methods A patient came to the emergency room, because of acute pain in the right hypochondrium. Clinical examination revealed tenderness in the gallbladder area and a positive Murphy's sign. An ultrasound exam depicted a normal gallbladder and the patient was referred for a CT scan. Results Flexible, unfixed ascending colon and cecum, located in the anatomical region of the right mesentery. Opacities of the surrounding peritoneal fat and a small linear concentration of fluid can be seen. There was an appendix of normal anteroposterior diameter with the presence of air in its lumen and without clear signs of inflammation. There was an impression of possible inflammatory swelling at the base of the appendix, (DD phenomenon of partial volume; e.t.c.). Linear opacities of the peritoneal fat in the region of the second loop of the duodenum. Multiple diverticula throughout the colon. Differential Diagnosis The differential diagnosis includes the following: Inflammation of the base of the appendix, diverticulitis of the cecum-ascending colon, a rare case of second duodenal loop ulcer, tuberculosis, terminal ileitis, pancreatitis, torsion of unfixed cecum-ascending colon, embolism or thrombosis of a vascular intestinal branch. Final Diagnosis There is an unfixed cecum-ascending colon, which is exhibiting diverticulitis.

Keywords: unfixed cecum-ascending colon, abdominal pain, malrotation, abdominal CT, congenital anomalies

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Authors: Agata Krawczyk-Ozog, Mateusz K. Holda, Mateusz Koziej, Danuta Sorysz, Zbigniew Siudak, Wieslawa Klimek-Piotrowska, Dariusz Dudek

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Introduction: Rapid development of the surgical and less-invasive percutaneous mitral valve repair procedures greatly increase the interest of the mitral valve anatomy. The aim of this study was to characterize morphological variability of the mitral valve leaflets and to provide the size of their particular parts. Materials and Methods: In the study, we included 200 autopsied human hearts from Caucasian individuals (25% females) with mean age 47.5 (±17.9) without any valvular diseases. The morphology of the mitral valve was evaluated. The intercommissural and aorto-mural diameters of the mitral annulus were measured. All leaflets and their scallops were identified. The base and the height of the posteromedial commissure (PM-C), anterolateral commissure (AL-C), anterior leaflet (AL) and posterior leaflet (PL) with their scallops were measured. Results: The intercommissural diameter was 28.0±4.8 mm, the aorto-mural diameter 19.7±4.8 mm, circumference of the mitral annulus 89.9±12.6 mm and the area of the mitral valve 485.4±171.4 mm2. Classical mitral valves (AL+AL-C+PL(P1,P2,P3)+PM-C) were found in 141 (70.5%) specimens. In classical type, the mean AL base and height were 30.8±4.9 mm and 20.6±4.2 mm, while mean PL base and height 45.1±8.2 mm 12.9±2.8 mm respectively. The mean ratio of the AL base to PL base was 0.7±0.2. Variations in PL were found in 55 (27.5%) and in AL in 5 (2.5%) hearts. The most common variations were: valve with one accessory scallop (AcS) between P3 and PM-C (7%); AcS between P1 and AL-C (4%); connections of P2 and P3 scallops (4%); connections of P1 and P2 scallops (3%); AcS in AL (2.5%). All AcS were smaller than the main PL scallops. The mean intertrigonal distance was 21.9±3.8 mm. Conclusions: In all cases, the mitral valve is built by two main leaflets with possible variants in secondary to leaflets scallops (29.5%). The variations are largely associated with PL and are mostly related to the presence of AcS. Anatomically the AL is not divided into scallops, and it occupies 34.5% of the mitral annulus circumference. Understanding the anatomy of the mitral valve leaflets helps to planning and performing mitral valve repair procedures.

Keywords: accessory scallop, commissure, connected scallops, human heart, mitral leaflets, mitral valve

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Authors: Setareh Yousife

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Introduction: Studies suggest that Extramarital Infidelity (EMI) variants, such as sexual and emotional infidelities are increasing in marriage relationships. To our knowledge, less is known about what therapies and mental-hygiene factors can prevent more effective this behavior and address it. Spiritual and cognitive-behavioural health have proven to reduce marital conflict, Increase marital satisfaction and commitment. Objective: This study aims to discuss the effectiveness of spiritual counseling combined with Cognitive-behavioural techniques in addressing Extramarital Infidelity. Method: Descriptive, analytical, and intervention articles indexed in SID, Noormags, Scopus, Iranmedex, Web of Science and PubMed databases, and Google Scholar were searched. We focused on Studies in which Women with extramarital relationships, including heterosexual married couples-only studies and spirituality/religion and CBT as coping techniques used as EMI therapy. Finally, the full text of all eligible articles was prepared and discussed in this review. Results: 25 publications were identified, and their textual analysis facilitated through four thematic approaches: The nature of EMI in Women, the meaning of spirituality in the context of mental health and human behavior as well as psychotherapy; Spirituality integrated into Cognitive-Behavioral approach, The role of Spirituality as a deterrent to EMI. Conclusions: The integration of the findings discussed herein suggests that the application of cognitive and behavioral skills in addressing these kinds of destructive family-based relationships is inevitable. As treatments based on religion/spirituality or cognition/behavior do not seem adequately effective in dealing with EMI, the combination of these approaches may lead to higher efficacy in fewer sessions and a shorter time.

Keywords: spirituality, religion, cognitive behavioral therapy, extramarital relation, infidelity

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Authors: Sofia Ait Bouazza

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We consider the problem of finding a minimum identifying code in a graph. This problem was initially introduced in 1998 and has been since fundamentally connected to a wide range of applications (fault diagnosis, location detection …). Suppose we have a building into which we need to place fire alarms. Suppose each alarm is designed so that it can detect any fire that starts either in the room in which it is located or in any room that shares a doorway with the room. We want to detect any fire that may occur or use the alarms which are sounding to not only to not only detect any fire but be able to tell exactly where the fire is located in the building. For reasons of cost, we want to use as few alarms as necessary. The first problem involves finding a minimum domination set of a graph. If the alarms are three state alarms capable of distinguishing between a fire in the same room as the alarm and a fire in an adjacent room, we are trying to find a minimum locating domination set. If the alarms are two state alarms that can only sound if there is a fire somewhere nearby, we are looking for a differentiating domination set of a graph. These three areas are the subject of much active research; we primarily focus on the third problem. An identifying code of a graph G is a dominating set C such that every vertex x of G is distinguished from other vertices by the set of vertices in C that are at distance at most r≥1 from x. When only vertices out of the code are asked to be identified, we get the related concept of a locating dominating set. The problem of finding an identifying code (resp a locating dominating code) of minimum size is a NP-hard problem, even when the input graph belongs to a number of specific graph classes. Therefore, we study this problem in some restricted classes of undirected graphs like split graph, line graph and path in a directed graph. Then we present some results on the identifying code by giving an exact value of upper total locating domination and a total 2-identifying code in directed and undirected graph. Moreover we determine exact values of locating dominating code and edge identifying code of thin headless spider and locating dominating code of complete suns.

Keywords: identiying codes, locating dominating set, split graphs, thin headless spider

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Authors: Anida Causevic-Ramosevac, Sabina Semiz

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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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Authors: C. Brierley, H. El-Farahaty, A. Farhan

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The Leeds Parallel Corpus of Arabic-English Constitutions is a parallel corpus for the Arabic legal domain. Analysis of legal language via Corpus Linguistics techniques is an important development. In legal proceedings, a corpus-based approach to disambiguating meaning is set to replace the dictionary as an interpretative tool, and legal scholarship in the States is now attuned to the potential for Text Analytics over vast quantities of text-based legal material, following the business and medical industries. This trend is reflected in Europe: the interdisciplinary research group in Computer Assisted Legal Linguistics mines big data collections of legal and non-legal texts to analyse: legal interpretations; legal discourse; the comprehensibility of legal texts; conflict resolution; and linguistic human rights. This paper focuses on ‘dignity’ as an important aspect of the overarching concept of human rights in current constitutions across the Arab world. We have compiled a parallel, Arabic-English raw text corpus (169,861 Arabic words and 205,893 English words) from reputable websites such as the World Intellectual Property Organisation and CONSTITUTE, and uploaded and queried our corpus in Sketch Engine. Our most challenging task was sentence-level alignment of Arabic-English data. This entailed manual intervention to ensure correspondence on a one-to-many basis since Arabic sentences differ from English in length and punctuation. We have searched for morphological variants of ‘dignity’ (رامة ك, karāma) in the Arabic data and inspected their English translation equivalents. The term occurs most frequently in the Sudanese constitution (10 instances), and not at all in the constitution of Palestine. Its most frequent collocate, determined via the logDice statistic in Sketch Engine, is ‘human’ as in ‘human dignity’.

Keywords: Arabic constitution, corpus-based legal linguistics, human rights, parallel Arabic-English legal corpora

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Authors: J. C. Valenzuela-Tripodoro, P. Álvarez-Ruíz, M. A. Mateos-Camacho, M. Cera

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In 2004, it was introduced the concept of Roman domination in graphs. This concept was initially inspired and related to the defensive strategy of the Roman Empire. An undefended place is a city so that no legions are established on it, whereas a strong place is a city in which two legions are deployed. This situation may be modeled by labeling the vertices of a finite simple graph with labels {0, 1, 2}, satisfying the condition that any 0-vertex must be adjacent to, at least, a 2-vertex. Roman domination in graphs is a variant of classic domination. Clearly, the main aim is to obtain such labeling of the vertices of the graph with minimum cost, that is to say, having minimum weight (sum of all vertex labels). Formally, a function f: V (G) → {0, 1, 2} is a Roman dominating function (RDF) in the graph G = (V, E) if f(u) = 0 implies that f(v) = 2 for, at least, a vertex v which is adjacent to u. The weight of an RDF is the positive integer w(f)= ∑_(v∈V)▒〖f(v)〗. The Roman domination number, γ_R (G), is the minimum weight among all the Roman dominating functions? Obviously, the set of vertices with a positive label under an RDF f is a dominating set in the graph, and hence γ(G)≤γ_R (G). In this work, we start the study of a generalization of RDF in which we consider that any undefended place should be defended from a sudden attack by, at least, k legions. These legions can be deployed in the city or in any of its neighbours. A function f: V → {0, 1, . . . , k + 1} such that f(N[u]) ≥ k + |AN(u)| for all vertex u with f(u) < k, where AN(u) represents the set of active neighbours (i.e., with a positive label) of vertex u, is called a [k]-multiple Roman dominating functions and it is denoted by [k]-MRDF. The minimum weight of a [k]-MRDF in the graph G is the [k]-multiple Roman domination number ([k]-MRDN) of G, denoted by γ_[kR] (G). First, we prove that the [k]-multiple Roman domination decision problem is NP-complete even when restricted to bipartite and chordal graphs. A problem that had been resolved for other variants and wanted to be generalized. We know the difficulty of calculating the exact value of the [k]-MRD number, even for families of particular graphs. Here, we present several upper and lower bounds for the [k]-MRD number that permits us to estimate it with as much precision as possible. Finally, some graphs with the exact value of this parameter are characterized.

Keywords: multiple roman domination function, decision problem np-complete, bounds, exact values

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Authors: Umer Masood Chaudry, Hafiz Muhammad Rehan Tariq, Chung-soo Kim, Tea-sung Jun

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This study explored the influence of pre-stretching temperature on the microstructural characteristics and deformation behavior of AZ61 magnesium alloy and its implications on grain growth during subsequent annealing. AZ61 alloy was stretched to 5% plastic strain along rolling (RD) and transverse direction (TD) at room (RT) and cryogenic temperature (-150 oC, CT) followed by annealing at 320 oC for 1 h to investigate the twinning and dislocation evolution and its consequent effect on the flow stress, plastic strain and strain hardening rate. Compared to RT-stretched samples, significant improvement in yield stress, strain hardening rate and moderate reduction in elongation to failure were witnessed for CT-stretched samples along RD and TD. The subsequent EBSD analysis revealed the increased fraction of fine {10-12} twins and nucleation of multiple {10-12} twin variants caused by higher local stress concentration at the grain boundaries in CT-stretched samples as manifested by the kernel average misorientation. This higher twin fraction and twin-twin interaction imposed the strengthening by restricting the mean free path of dislocations, leading to higher flow stress and strain hardening rate. During annealing of the RT/CT-stretched samples, the residual strain energy and twin boundaries were decreased due to static recovery, leading to a coarse-grained twin-free microstructure. Strain induced boundary migration (SBIM) was found to be the predominant mechanism governing the grain growth during annealing via movement of high angle grain boundaries.

Keywords: magnesium, twinning, twinning variant selection, EBSD, cryogenic deformation

Procedia PDF Downloads 35

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

Procedia PDF Downloads 259

Authors: Bindu I. Somarajan, Viney Gupta, Gagandeep Kaur Walia, Jasbir Kaur, Sunil Kumar, Shikha Gupta, Abadh K. Chaurasia, Dinesh Gupa, Abhinav Kaushik, Aditi Mehta, Vipin Gupta, Arundhati Sharma

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Background: Juvenile onset primary open angle glaucoma (JOAG), affects individuals under the age of 40 years. Studies on a few families of JOAG, that led to the discovery of the Myocilin gene, reported the disease to have an autosomal dominant pattern of inheritance. However, sporadic forms of JOAG been seen to be more common in some populations. Most pathological homozygous mutations in the CYP1B1 gene associated with JOAG have been seen among sporadic cases. Given the higher prevalence of sporadic JOAG cases in our population, we aimed to look for common mutations E229K and R368H, the two most common variants in the CYP1B1 gene associated with glaucoma. Objective: To determine the frequency and evaluate genotype phenotype correlation of CYP1B1 E229K and R368H mutations in a cohort of 120 sporadic Juvenile open angle glaucoma patients.Methods: Unrelated JOAG patients whose first degree relatives had been examined and found to be unaffected were included in the study. The patients and their parents were screened for E229K and R368H mutations. The phenotypic characteristics were compared between probands with and with out these mutations by SPSS v16. Results: Out of 120 JOAG patients included in the study, the E229K mutation was seen in 9 probands (7.5%) and R368H in 7 (5.8%). The average age of onset of the disease (p=0.3) and the highest untreated IOP (p=0.4) among those carrying mutations was not significantly different from those who did not have these mutations. The proportion of probands with angle dysgenesis among those with E229K and R368H mutations was 70% (11 out of 16) in comparison to 65% (67 out of 104) of those who did not harbour these mutations (p=0.56). Similarly the probands with moderate to high myopia among those with E229K and R368H mutations was 20% (3 out of 16) in comparison to 18% (18 out of 104) of those who did not harbour these mutations(p=0.59). Conclusion: The frequency of E229K and R368H mutations of the CYP1B1 gene is low even among sporadic JOAG patients. Moreover there is no clinical correlation between the presence of these mutations and disease severity

Keywords: CYP1B1, gene, IOP, JOAG, mutation

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