Search results for: preimplantation genetic diagnosis

Authors: Fouad Chebib, Marie Hogan, Ziad El-Zoghby, Maria Irazabal, Sarah Senum, Christina Heyer, Charles Madsen, Emilie Cornec-Le Gall, Atta Behfar, Barbara Ehrlich, Peter Harris, Vicente Torres

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Background: Mutations in PKD1 and PKD2, the genes encoding the proteins polycystin-1 (PC1) and polycystin-2 (PC2) cause autosomal dominant polycystic kidney disease (ADPKD). ADPKD is a systemic disease associated with several extrarenal manifestations. Animal models have suggested an important role for the polycystins in cardiovascular function. The aim of the current study is to evaluate the association of various cardiomyopathies in a large cohort of patients with ADPKD. Methods: Clinical data was retrieved from medical records for all patients with ADPKD and cardiomyopathies (n=159). Genetic analysis was performed on available DNA by direct sequencing. Results: Among the 58 patients included in this case series, 39 patients had idiopathic dilated cardiomyopathy (IDCM), 17 had hypertrophic obstructive cardiomyopathy (HOCM), and 2 had left ventricular noncompaction (LVNC). The mean age at cardiomyopathy diagnosis was 53.3, 59.9 and 53.5 years in IDCM, HOCM and LVNC patients respectively. The median left ventricular ejection fraction at initial diagnosis of IDCM was 25%. Average basal septal thickness was 19.9 mm in patients with HOCM. Genetic data was available in 19, 8 and 2 cases of IDCM, HOCM, and LVNC respectively. PKD1 mutations were detected in 47.4%, 62.5% and 100% of IDCM, HOCM and LVNC cases. PKD2 mutations were detected only in IDCM cases and were overrepresented (36.8%) relative to the expected frequency in ADPKD (~15%). The prevalence of IDCM, HOCM, and LVNC in our ADPKD clinical cohort was 1:17, 1:39 and 1:333 respectively. When compared to the general population, IDCM and HOCM was approximately 10-fold more prevalent in patients with ADPKD. Conclusions: In summary, we suggest that PKD1 or PKD2 mutations may predispose to idiopathic dilated or hypertrophic cardiomyopathy. There is a trend for patients with PKD2 mutations to develop the former and for patients with PKD1 mutations to develop the latter. Predisposition to various cardiomyopathies may be another extrarenal manifestation of ADPKD.

Keywords: autosomal dominant polycystic kidney (ADPKD), polycystic kidney disease, cardiovascular, cardiomyopathy, idiopathic dilated cardiomyopathy, hypertrophic cardiomyopathy, left ventricular noncompaction

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Authors: Zia Amjad, Salem Safar Alghamdi

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This experiment was carried out at student educational farm College of Food and Agriculture, KSU, kingdom of Saudi Arabia; in order to characterize 154 Vicia faba, characterization, PCA, ago-morphological diversity. Icia faba L. accessions were based on ipove and ibpgr descriptors. 24 agro-morphological characters including 11 quantitative and 13 qualitative were observed for genetic variation. All the results were analyzed using multivariate analysis i.e. principle component analysis. First 6 principle components with eigenvalue greater than one; accounted for 72% of available Vicia faba genetic diversity. However, first three components revealed more than 10% of genetic diversity each i.e. 22.36%, 15.86%, and 10.89% respectively. PCA distributed the V. faba accessions into different groups based on their performance for the characters under observation. PC-1 which represented 22.36% of the genetic diversity was positively associated with stipule spot pigmentation, intensity of streaks, pod degree of curvature and to some extent with 100 seed weight. PC-2 covered 15.86 of the genetic diversity and showed positive association for average seed weight per plant, pod length, number of seeds per plant, 100 seed weight, stipule spot pigmentation, intensity of streaks (same as in PC-1), and to some extent for pod degree of curvature and number of pods per plant. PC-3 revealed 10.89% of genetic diversity and expressed positive association for number of pods per plant and number of leaflets per plant.

Keywords: Vicia faba, characterization, PCA, ago-morphological diversity

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Authors: M. G. Gopisankar, A. Surendiran, M. Hemachandren

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The dose requirement of warfarin to achieve target INR range varies in patients with prosthetic heart valve. This variation in is affected by both genetic and non-genetic factors. Earlier studies have identified role of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirement. Warfarin being a substrate for drug transporter, P-glycoprotein coded by ABCB1 gene, may also be influenced by its genetic polymorphisms. This study was aimed to study the effect of single nucleotide polymorphism (SNP), ABCB1 2677G > T on warfarin maintenance dose requirement in patients with steady-state International Normalized Ratio (INR). The median dose requirement was significantly different between the genotype groups GG vs. GT (35 ± 20; 42.5 ± 18, p < 0.05), GG vs. TT (35 ± 20; 41.25 ± 25, p<0.05). There was no significant difference between GT vs. TT. In conclusion, patients with variant allele require a higher weekly maintenance dose of warfarin compared to patients without variant allele.

Keywords: warfarin pharamcogenetics, pharmacogenomics of warfarin, ABCB1 and warfarin, pglycoprotein and warfarin

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Authors: Yogita Tulsian, R. S. Gupta, K. F. Laserson

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Background: Delays in the diagnosis and treatment of TB facilitates disease transmission in the community, so we conducted a study to evaluate the burden of and risk factors for delay in TB diagnosis and initiation of TB treatment among patients in the private and public sectors in Udaipur district, Rajasthan, India. Methods: A retrospective cohort study was conducted among 100 new sputum-positive TB. Patients were interviewed in the intensive phase of treatment September 2013-November 2013 Long total diagnosis delay (TDD) was defined as a time interval between first symptom to confirmed diagnosis > 30 days. Long health treatment delay (HTD) was defined as a time interval between confirmed diagnosis to treatment initiation > 7 days. Results: We observed a median TDD of 55 days (range: 7-136 days) in the public sector and of 92 days (11-380 days) in the private sector. Long TDD in the private sector was significantly associated with middle-higher socio-economic status (Risk Ratio (RR): 2;95% CI: 1.3-3). The reasons reported from the private sector for long TDD were suspect TB patients not advised for sputum examination (RR: 42; 95% CI:2.6-660), practise of self-medication (RR: 17.4; 95% CI: 1.1-267), or lack of awareness (RR: 9.7;95% CI: 0.6-145). The median HTD in the public sector was 3 days (range: 0-14 days), and in the private sector, 2 days (range: 0-11 days) (non-significant difference). Conclusions: Long TDD in private sector may be improved through sputum referral for all suspect TB cases and better education to all regarding TB.

Keywords: diagnosis delay, treatment delay, privatesector, public sector

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Authors: Sait Ozsoy, Asude Gokmen, Mehtap Yondem, Hanife A. Alkan, Gulnaz T. Javan

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Deep neck infection often develops due to upper respiratory tract and odontogenic infections. Gastrointestinal System perforation can occur for many reasons and is in need of the early diagnosis and prompt surgical treatment. In both cases late or incorrect diagnosis may lead to increase morbidity and high mortality. A patient with a diagnosis of deep neck abscess died while under treatment due to sepsis and multiple organ failure. Autopsy finding showed duodenal ulcer and this is reported in the literature.

Keywords: peptic ulcer perforation, peritonitis, retropharyngeal abscess, sepsis

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Authors: M. Y. Abubakar, Ipinjolu J. K., Yuzine B. Esa, Magawata I., Hassan W. A., Turaki A. A.

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Catfish (Heterobranchus spp.) is a major freshwater fish that are widely distributed in Nigeria waters and are gaining rapid aquaculture expansion. However, indiscriminate artificial crossbreeding of the species with others poses a threat to their biodiversity. There is a paucity of information about the genetic variability, hence this insight on the genetic variability is badly needed, not only for the species conservation but for aquaculture expansion. In this study, we tested the level of Genetic diversity, population differentiation and phylogenetic relationship analysis on 35 individuals of two populations of Heterobranchus bidorsalis and 29 individuals of three populations of Heterobranchus longifilis using the mitochondrial cytochrome c oxidase subunit I (mtDNA COI) gene sequence. Nucleotide sequences of 650 bp fragment of the COI gene of the two species were compared. In the whole 4 and 5 haplotypes were distinguished in the populations of H. bidorsalis & H. longifilis with accession numbers (MG334168 - MG334171 & MG334172 to MG334176) respectively. Haplotypes diversity indices revealed a range of 0.59 ± 0.08 to 0.57 ± 0.09 in H. bidorsalis and 0.000 to 0.001051 ± 0.000945 in H. longifilis population, respectively. Analysis of molecular variance (AMOVA) revealed no significant variation among H. bidorsalis population of the Niger & Benue Rivers, detected significant genetic variation was between the Rivers of Niger, Kaduna and Benue population of H. longifilis. Two main clades were recovered, showing a clear separation between H. bidorsalis and H. longifilis in the phylogenetic tree. The mtDNA COI genes studied revealed high gene flow between populations with no distinct genetic differentiation between the populations as measured by the fixation index (FST) statistic. However, a proportion of population-specific haplotypes was observed in the two species studied, suggesting a substantial degree of genetic distinctiveness for each of the population investigated. These findings present the description of the species character and accessions of the fish’s genetic resources, through gene sequence submitted in Genetic database. The data will help to protect their valuable wild resource and contribute to their recovery and selective breeding in Nigeria.

Keywords: AMOVA, genetic diversity, Heterobranchus spp., mtDNA COI, phylogenetic tree

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Authors: José A. Menezes, Giordano Cabral, Bruno T. Gomes

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Choosing good features is an essential part of machine learning. Recent techniques aim to automate this process. For instance, feature learning intends to learn the transformation of raw data into a useful representation to machine learning tasks. In automatic audio classification tasks, this is interesting since the audio, usually complex information, needs to be transformed into a computationally convenient input to process. Another technique tries to generate features by searching a feature space. Genetic algorithms, for instance, have being used to generate audio features by combining or modifying them. We find this approach particularly interesting and, despite the undeniable advances of feature learning approaches, we wanted to take a step forward in the use of genetic algorithms to find audio features, combining them with more conventional methods, like PCA, and inserting search control mechanisms, such as constraints over a confusion matrix. This work presents the results obtained on particular audio classification problems.

Keywords: feature generation, feature learning, genetic algorithm, music information retrieval

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Authors: Somayeh Akrami, Habib Onsori, Elham Tahmassebian

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Species of Anemone narcissiflora is belonged to Anemone genus of Ranunculaceae family. This species has two subspecies named narcissiflora and willdenowii which the latest is recorded in Iran in 2010. Some samples of A. narcissiflora is gathered from kuhkamar-zonouz region of East -Azerbaijan province, Iran to study the genetic diversity of the species by using RAPD molecular markers, and estimation of genetic diversity were evaluated with the using 10mer RAPD primers by PCR-RAPD method. 39 polymorphic bands were produced from the six primers used in this technique that the maximum band is related to the RP1 primer, the lowest band is related to the RP7 and the average band for all primers were 6.5 polymorphic bands. Cluster analysis of samples in done by UPGMA method in NTSYSpc 2.02 software. Dendrogram resulting from migrating bands showed that the studied samples can be divided into two groups. The first group includes samples with 1-2 flowers and the second group consists of two sub-groups which the first subgroup consists of samples with 3-5 flowers, and the second subgroup consists of samples with 6-7 flowers. The results of the comparison and analysis of the data obtained from RAPD technique and similarity matrix represents the genetic variation between collected samples. This study shows that RAPD markers can determine the polymorphisms between different genotypes of A. narcissiflora and their hybrids. So RAPD technique can serve as a suitable molecular method to determine the genetic diversity of samples.

Keywords: Anemone narcissiflora, genetic diversity, RAPD-PCR

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Authors: Shahzad Bhatti, M. Aslamkhan, Sana Abbas, Marcella Attimonelli, Hikmet Hakan Aydin, Erica Martinha Silva de Souza,

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Despite being situated at the crossroad of Asia, Pakistan has gained crucial importance because of its pivotal role in subsequent migratory events. To highlight the genetic footprints and to contribute an enigmatic picture of the relative population expansion pattern among four major Pashtun tribes in Khyber Pakhtunkhwa viz., Bangash, Khattak, Mahsuds and Orakzai, the complete mitochondrial control region of 100 Pashtun were analyzed. All Pashtun tribes studied here revealed high genetic diversity; that was comparable to the other Central Asian, Southeast Asian and European populations. The configuration of genetic variation and heterogeneity further unveiled through Multidimensional Scaling, Principal Component Analysis, and phylogenetic analysis. The results revealed that the Pashtun is a composite mosaic of West Eurasian ancestry of numerous geographic origin. They received substantial gene flow during different invasions and have a high element of the Western provenance. The most common haplogroups reported in this study are: South Asian haplogroup M (28%) and R (8%); whereas, West Asians haplogroups are present, albeit in high frequencies (67%) and widespread over all; HV (15%), U (17%), H (9%), J (8%), K (8%), W (4%), N (3%) and T (3%). Herein we linked the unexplored genetic connection between Ashkenazi Jews and Pashtun. The presence of specific haplotypes J1b (4%) and K1a1b1a (5%) point to a genetic connection of Jewish conglomeration with Khattak tribe. This was a result of an ancient genetic influx in the early Neolithic period that led to the formation of a diverse genetic substratum in present day Pashtun.

Keywords: mtDNA haplogroups, control region, Pakistan, KPK, ethnicity

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Authors: M. Vivodík, Ž. Balážová, Z. Gálová

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The aim of this work was to detect genetic variability among the set of 40 castor genotypes using 8 RAPD markers. Amplification of genomic DNA of 40 genotypes, using RAPD analysis, yielded in 66 fragments, with an average of 8.25 polymorphic fragments per primer. Number of amplified fragments ranged from 3 to 13, with the size of amplicons ranging from 100 to 1200 bp. Values of the polymorphic information content (PIC) value ranged from 0.556 to 0.895 with an average of 0.784 and diversity index (DI) value ranged from 0.621 to 0.896 with an average of 0.798. The dendrogram based on hierarchical cluster analysis using UPGMA algorithm was prepared and analyzed genotypes were grouped into two main clusters and only two genotypes could not be distinguished. Knowledge on the genetic diversity of castor can be used for future breeding programs for increased oil production for industrial uses.

Keywords: dendrogram, polymorphism, RAPD technique, Ricinus communis L.

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Authors: Deepa Vasudevan, Thomas Northrup, Angela Stotts, Michelle Klawans

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To date, we have conducted three studies on this subject. The research done to date is through three studies. The initial study was to document that modified criteria independently identified higher numbers of overweight/obese South Asian Indians. The second study was to document physician knowledge of appropriate diagnosis of obesity among South Asian Indians. The final study was an intervention to evaluate the efficacy of a training module on improving physician diagnosis and counseling of overweight/obese Asian patients.

Keywords: South Asian Indians, obesity, physicians, BMI and waist circumference

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Authors: Pratiksha Saxena, Dipti Singh, Neha Khanna

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A self-organizing migrating genetic algorithm(C-SOMGA) is developed for animal diet formulation. This paper presents animal diet formulation using stochastic and genetic algorithm. Tri-objective models for cost minimization and shelf life maximization are developed. These objectives are achieved by combination of stochastic programming and C-SOMGA. Stochastic programming is used to introduce nutrient variability for animal diet. Self-organizing migrating genetic algorithm provides exact and quick solution and presents an innovative approach towards successful application of soft computing technique in the area of animal diet formulation.

Keywords: animal feed ration, feed formulation, linear programming, stochastic programming, self-migrating genetic algorithm, C-SOMGA technique, shelf life maximization, cost minimization, nutrient maximization

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Authors: Abhishek Oswal

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Background: Inconsistencies between the guidelines for childhood asthma can pose a diagnostic challenge to clinicians. NICE guidelines are the most commonly followed guidelines in primary care in the UK; they state that to be diagnosed with asthma, a child must be more than 5 years old and must have objective evidence of the disease. When diagnoses are coded in general practice (GP), these guidelines may be superseded by communications from secondary care. Hence it is imperative that diagnoses are correct, as per up to date guidelines and evidence, as this affects follow up and management both in primary and secondary care. Methods: A snapshot audit at a general practice surgery was undertaken of children (less than 16 years old) with a coded diagnosis of 'asthma', to review the age at diagnosis and whether any objective evidence of asthma was documented at diagnosis. 50 cases of asthma in children presenting to the emergency department (ED) were then audited to review the age at presentation, whether there was evidence of previous asthma diagnosis and whether the patient was discharged from ED. A repeat audit is planned in ED this winter. Results: In a GP surgery, there were 83 coded cases of asthma in children. 51 children (61%) were diagnosed under 5, with 9 children (11%) who had objective evidence of asthma documented at diagnosis. In ED, 50 cases were collected, of which 4 were excluded as they were referred to the other services, or for incorrect coding. Of the 46 remaining, 27 diagnoses confirmed to NICE guidelines (59%). 33 children (72%) were discharged from ED. Discussion: The most likely reason for the apparent low rate of a correct diagnosis is the significant challenge of obtaining objective evidence of asthma in children. There were a number of patients who were diagnosed from secondary care services and then coded as 'asthma' in GP, without having objective documented evidence. The electronic patient record (EPR) system used in our emergency department (ED) did not allow coding of 'suspected diagnosis' or of 'viral induced wheeze'. This may have led to incorrect diagnoses coded in primary care, of children who had no confirmed diagnosis of asthma. We look forward to the re-audit, as the EPR system has been updated to allow suspected diagnoses. In contrast to the NICE guidelines used here, British Thoracic Society (BTS) guidelines allow for a trial of treatment and subsequent confirmation of diagnosis without objective evidence. It is possible that some of the cases which have been classified as incorrect in this audit may still meet other guidelines. Conclusion: The diagnosis of asthma in children is challenging. Incorrect diagnoses may be related to clinical pressures and the provision of services to allow compliance with NICE guidelines. Consensus statements between the various groups would also aid the decision-making process and diagnostic dilemmas that clinicians face, to allow more consistent care of the patient.

Keywords: asthma, diagnosis, primary care, emergency department, guidelines, audit

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Authors: Mariana Lima, Rodrigo Silva, Victor Stange, Teodiano Bastos

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Due to the high reliability reached by DNA tests, since the 1980s this kind of test has allowed the identification of a growing number of criminal cases, including old cases that were unsolved, now having a chance to be solved with this technology. Currently, the use of genetic profiling databases is a typical method to increase the scope of genetic comparison. Forensic laboratories must process, analyze, and generate genetic profiles of a growing number of samples, which require time and great storage capacity. Therefore, it is essential to develop methodologies capable to organize and minimize the spent time for both biological sample processing and analysis of genetic profiles, using software tools. Thus, the present work aims the development of a software system solution for laboratories of forensics genetics, which allows sample, criminal case and local database management, minimizing the time spent in the workflow and helps to compare genetic profiles. For the development of this software system, all data related to the storage and processing of samples, workflows and requirements that incorporate the system have been considered. The system uses the following software languages: HTML, CSS, and JavaScript in Web technology, with NodeJS platform as server, which has great efficiency in the input and output of data. In addition, the data are stored in a relational database (MySQL), which is free, allowing a better acceptance for users. The software system here developed allows more agility to the workflow and analysis of samples, contributing to the rapid insertion of the genetic profiles in the national database and to increase resolution of crimes. The next step of this research is its validation, in order to operate in accordance with current Brazilian national legislation.

Keywords: database, forensic genetics, genetic analysis, sample management, software solution

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Authors: Ammar Said Ahmed, M. Reissmann, R. Bortfeldt, G. A. Brockmann

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Milk protein genetic variants are of interest for characterizing domesticated mammalian species and breeds, and for studying associations with economic traits. The aim of this work was to analyze milk protein genetic variation in the Sudanese native cattle breeds, which have been gradually declining in numbers over the last years due to the breed substitution, and indiscriminate crossbreeding. The genetic variation at three milk protein genes αS1-casein (CSN1S1), αS2-casein (CSN1S2) and ƙ-casein (CSN3) was investigated in 250 animals belonging to five Bos indicus cattle breeds of Sudan (Butana, Kenana, White-nile, Erashy and Elgash). Allele specific primers were designed for five SNPs determine the CSN1S1 variants B and C, the CSN1S2 variants A and B, the CSN3 variants A, B and H. Allele, haplotype frequencies and genetic distances (D) were calculated and the phylogenetic tree was constructed. All breeds were found to be polymorphic for the studied genes. The CSN1S1*C variant was found very frequently (>0.63) in all analyzed breeds with highest frequency (0.82) in White-nile cattle. The CSN1S2*A variant (0.77) and CSN3*A variant (0.79) had highest frequency in Kenana cattle. Eleven haplotypes in casein gene cluster were inferred. Six of all haplotypes occurred in all breeds with remarkably deferent frequencies. The estimated D ranged from 0.004 to 0.049. The most distant breeds were White-nile and Kenana (D 0.0479). The results presented contribute to the genetic knowledge of indigenous cattle and can be used for proper definition and classification of the Sudanese cattle breeds as well as breeding, utilization, and potential development of conservation strategies for local breeds.

Keywords: milk protein, genetic variation, casein haplotype, Bos indicus

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Authors: Wafa Al Jabri

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Background: In Middle Eastern Countries (MECs), there is a high prevalence of genetic blood disorders (GBDs), particularly sickle cell disease and thalassemia. The GBDs are considered a major public health concern that place a huge burden to individuals, families, communities, and health care systems. The high rates of consanguineous marriages, along with the unacceptable termination of at-risk pregnancy in MECs, reduce the possible solutions to control the high prevalence of GBDs. Since the early 1970s, most of MECs have started introducing premarital screening services (PSS) as a preventive measure to identify the asymptomatic carriers of GBDs and to provide genetic counseling to help couples plan for healthy families; yet, the success rate of PSS is very low. Purpose: This paper aims to highlight the factors that affect the success of PSS in MECs. Methods: An integrative review of articles located in CINAHL, PubMed, SCOPUS, and MedLine was carried out using the following terms: “premarital screening,” “success,” “effectiveness,” and “ genetic blood disorders”. Second, a hand search of the reference lists and Google searches were conducted to find studies that did not exist in the primary database searches. Only studies which are conducted in MECs and published after 2010 were included. Studies that were not published in English were excluded. Results: Eighteen articles were included in the review. The results showed that PSS in most of the MECs was successful in achieving its objective of identifying high-risk marriages; however, the service failed to meet its ultimate goal of reducing the prevalence of GBDs. Various factors seem to hinder the success of PSS, including poor public awareness, late timing of the screening, culture and social stigma, lack of prenatal diagnosis services and therapeutic abortion, emotional factors, religious beliefs, and lack of genetic counseling services. However, poor public awareness, late timing of the screening, religious misbeliefs, and the lack of adequate counseling services were the most common barriers identified. Conclusion and Implications: The review help in providing a framework for an effective preventive measure to reduce the prevalence of GBDs in MECS. This framework focuses primarily in overcoming the identified barriers by providing effective health education programs in collaboration with religious leaders, offering the screening test to young adults at an earlier stage, and tailoring the genetic counseling to consider people’s values, beliefs, and preferences.

Keywords: premarital screening, middle east, genetic blood disorders, factors

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Authors: Khaled Yahia

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This paper deals with the problem of stator faults diagnosis in induction motors. Using the discrete wavelet transform (DWT) for the current Park’s vector modulus (CPVM) analysis, the inter-turn short-circuit faults diagnosis can be achieved. This method is based on the decomposition of the CPVM signal, where wavelet approximation and detail coefficients of this signal have been extracted. The energy evaluation of a known bandwidth detail permits to define a fault severity factor (FSF). This method has been tested through the simulation of an induction motor using a mathematical model based on the winding-function approach. Simulation, as well as experimental, results show the effectiveness of the used method.

Keywords: induction motors (IMs), inter-turn short-circuits diagnosis, discrete wavelet transform (DWT), current park’s vector modulus (CPVM)

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Authors: Yahia. Kourd, N. Guersi D. Lefebvre

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In this paper we propose to study the faults diagnosis in squirrel-cage induction motor using MLP neural networks. We use neural healthy and faulty models of the behavior in order to detect and isolate some faults in machine. In the first part of this work, we have created a neural model for the healthy state using Matlab and a motor located in LGEB by acquirins data inputs and outputs of this engine. Then we detected the faults in the machine by residual generation. These residuals are not sufficient to isolate the existing faults. For this reason, we proposed additive neural networks to represent the faulty behaviors. From the analysis of these residuals and the choice of a threshold we propose a method capable of performing the detection and diagnosis of some faults in asynchronous machines with squirrel cage rotor.

Keywords: faults diagnosis, neural networks, multi-models, squirrel-cage induction motor

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Authors: Ahmed Najah Ahmed Al-Mahfoodh, Ali Najah Ahmed Al-Mahfoodh, Ahmed Al-Shafie

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In this study, genetic programming (GP) technique has been investigated in prediction of set of rainfall-runoff data. To assess the effect of input parameters on the model, the sensitivity analysis was adopted. To evaluate the performance of the proposed model, three statistical indexes were used, namely; Correlation Coefficient (CC), Mean Square Error (MSE) and Correlation of Efficiency (CE). The principle aim of this study is to develop a computationally efficient and robust approach for predict of rainfall-runoff which could reduce the cost and labour for measuring these parameters. This research concentrates on the Johor River in Johor State, Malaysia.

Keywords: genetic programming, prediction, rainfall-runoff, Malaysia

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Authors: Rachel Matar, Maxime Merheb

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

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

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Authors: Thananyada Buapian

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Overnutrition is emerging as a morbid disease in developing and Westernized countries. Because of its comorbidity diseases, it is cost-effective to prevent and manage this disease earlier. In Thailand, this alarming disease has long been studied, but the prevalence is still higher than that in the past. Physicians should recognize it well and have a definite direction to face and combat this dangerous disease. Rapid changes in the tremendous figure of overnutrition students indicate that genetic factors are not the primary determinants since human genes have remained unchanged for a century. This study aims to assess the prevalence of overnutrition students and to investigate the non-genetic factors affecting over nutrition students. A cross-sectional school-based survey was conducted. A two-stage sampling was adopted. Respondents included 1,850 students in grades 4 to 6 in Ayutthaya Province. An anthropometric measurement and questionnaire were developed. Childhood over nutrition was defined as a weight-for-height Z-score above +2SD of NCHS/WHO references. About thirty three percent of the children were over nutrition in Ayutthaya province. Stepwise multiple logistic regression analysis showed that 8 statistically significant non genetic factors explain the variation of childhood over nutrition by 18 percent. Sex is the prime factor to explain the variation of childhood over nutrition, followed by duration of light physical activities, duration of moderate physical activities, having been breastfed, the presence of a healthy role model of the caregiver, number of siblings, birth order, and occupation of the caregiver, respectively. Non genetic factors, especially the subjects’ demographic and physical activities, as well as the caregivers’ background and family environment, should be considered in viable approach to remedy this health imbalance in children.

Keywords: non genetic factors, non-genetic, over nutrition, over nutrition students

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Authors: Yelin Zhao, Xinxiu Li, Martin Smelik, Oleg Sysoev, Firoj Mahmud, Dina Mansour Aly, Mikael Benson

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Background: Early diagnosis of pancreatic cancer is clinically challenging due to vague, or no symptoms, and lack of biomarkers. Polygenic risk score (PRS) scores may provide a valuable tool to assess increased or decreased risk of PC. This study aimed to develop such PRS by filtering genetic variants identified by GWAS using transcriptional programs identified by single-cell RNA sequencing (scRNA-seq). Methods: ScRNA-seq data from 24 pancreatic ductal adenocarcinoma (PDAC) tumor samples and 11 normal pancreases were analyzed to identify differentially expressed genes (DEGs) in in tumor and microenvironment cell types compared to healthy tissues. Pathway analysis showed that the DEGs were enriched for hundreds of significant pathways. These were clustered into 40 “programs” based on gene similarity, using the Jaccard index. Published genetic variants associated with PDAC were mapped to each program to generate program PRSs (pPRSs). These pPRSs, along with five previously published PRSs (PGS000083, PGS000725, PGS000663, PGS000159, and PGS002264), were evaluated in a European-origin population from the UK Biobank, consisting of 1,310 PDAC participants and 407,473 non-pancreatic cancer participants. Stepwise Cox regression analysis was performed to determine associations between pPRSs with the development of PC, with adjustments of sex and principal components of genetic ancestry. Results: The PDAC genetic variants were mapped to 23 programs and were used to generate pPRSs for these programs. Four distinct pPRSs (P1, P6, P11, and P16) and two published PRSs (PGS000663 and PGS002264) were significantly associated with an increased risk of developing PC. Among these, P6 exhibited the greatest hazard ratio (adjusted HR[95% CI] = 1.67[1.14-2.45], p = 0.008). In contrast, P10 and P4 were associated with lower risk of developing PC (adjusted HR[95% CI] = 0.58[0.42-0.81], p = 0.001, and adjusted HR[95% CI] = 0.75[0.59-0.96], p = 0.019). By comparison, two of the five published PRS exhibited an association with PDAC onset with HR (PGS000663: adjusted HR[95% CI] = 1.24[1.14-1.35], p < 0.001 and PGS002264: adjusted HR[95% CI] = 1.14[1.07-1.22], p < 0.001). Conclusion: Compared to published PRSs, scRNA-seq-based pPRSs may be used not only to assess increased but also decreased risk of PDAC.

Keywords: cox regression, pancreatic cancer, polygenic risk score, scRNA-seq, UK biobank

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Authors: Ibrahim Ilker Ozyigit, Ertugrul Filiz, Seda Birbilener, Semsettin Kulac, Zeki Severoglu

Abstract:

In this study, we have performed genetic diversity analysis of Tilia tomentosa genotypes by using randomly amplified polymorphic DNA (RAPD) primers. A total of 28 genotypes, including 25 members from the urban ecosystem and 3 genotypes from forest ecosystem as outgroup were used. 8 RAPD primers produced a total of 53 bands, of which 48 (90.6 %) were polymorphic. Percentage of polymorphic loci (P), observed number of alleles (Na), effective number of alleles (Ne), Nei's (1973) gene diversity (h), and Shannon's information index (I) were found as 94.29 %, 1.94, 1.60, 0.34, and 0.50, respectively. The unweighted pair-group method with arithmetic average (UPGMA) cluster analysis revealed that two major groups were observed. The genotypes of urban and forest ecosystems showed a high genetic similarity between 28% and 92% and these genotypes did not separate from each other in UPGMA tree. Also, urban and forest genotypes clustered together in principal component analysis (PCA).

Keywords: Tilia tomentosa, genetic diversity, urban ecosystem, RAPD, UPGMA

Procedia PDF Downloads 486

Authors: K. Yahia, A. Titaouine, A. Ghoggal, S. E. Zouzou, F. Benchabane

Abstract:

This paper deals with the problem of stator faults diagnosis in induction motors. Using the discrete wavelet transform (DWT) for the current Park’s vector modulus (CPVM) analysis, the inter-turn short-circuit faults diagnosis can be achieved. This method is based on the decomposition of the CPVM signal, where wavelet approximation and detail coefficients of this signal have been extracted. The energy evaluation of a known bandwidth detail permits to define a fault severity factor (FSF). This method has been tested through the simulation of an induction motor using a mathematical model based on the winding-function approach. Simulation, as well as experimental, results show the effectiveness of the used method.

Keywords: Induction Motors (IMs), inter-turn short-circuits diagnosis, Discrete Wavelet Transform (DWT), Current Park’s Vector Modulus (CPVM)

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Authors: Guilherme Baldo Carlos

Abstract:

The flexible job-shop scheduling problem (FJSP) is an NP-hard combinatorial optimization problem, which can be applied to model several applications in a wide array of industries. This problem will have its importance increase due to the shift in the production mode that modern society is going through. The demands are increasing and for products personalized and customized. This work aims to apply a meta-heuristic called a genetic algorithm (GA) to solve this problem. A GA is a meta-heuristic inspired by the natural selection of Charles Darwin; it produces a population of individuals (solutions) and selects, mutates, and mates the individuals through generations in order to find a good solution for the problem. The results found indicate that the GA is suitable for FJSP solving.

Keywords: genetic algorithm, evolutionary algorithm, scheduling, flexible job-shop scheduling

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Authors: Han Bing, Yin Zhenjie

Abstract:

In order to analyze the status of a diesel engine, as well as conduct fault prediction, a new prediction model based on a gray system is proposed in this paper, which takes advantage of the neural network and the genetic algorithm. The proposed GBPGA prediction model builds on the GM (1.5) model and uses a neural network, which is optimized by a genetic algorithm to construct the error compensator. We verify our proposed model on the diesel faulty simulation data and the experimental results show that GBPGA has the potential to employ fault prediction on diesel.

Keywords: fault prediction, neural network, GM(1, 5) genetic algorithm, GBPGA

Procedia PDF Downloads 274

Authors: Yasser M. Saad, Amr A. El Hanafy, Saleh A. Alkarim, Hussein A. Almehdar, Elrashdy M. Redwan

Abstract:

Camels are substantial providers of transport, milk, sport, meat, shelter, security and capital in many countries, particularly in Saudi Arabia. Inter simple sequence repeat technique was used to detect the genetic variations among some camel breeds (Majaheim, Safra, Wadah, and Hamara). Actual number of alleles, effective number of alleles, gene diversity, Shannon’s information index and polymorphic bands were calculated for each evaluated camel breed. Neighbor-joining tree that re-constructed for evaluated these camel breeds showed that, Hamara breed is distantly related from the other evaluated camels. In addition, the polymorphic sites, haplotypes and nucleotide diversity were identified for some camelidae cox1 gene sequences (obtained from NCBI). The distance value between C. bactrianus and C. dromedarius (0.072) was relatively low. Analysis of genetic diversity is an important way for conserving Camelus dromedarius genetic resources.

Keywords: camel, genetics, ISSR, neighbor-joining

Procedia PDF Downloads 443

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

Abstract:

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

Procedia PDF Downloads 149

Authors: Reza Talebi

Abstract:

Wheat (Triticum aestivum) is one of the most important food staples in Iran. Understanding genetic variability among the landrace wheat germplasm is important for breeding. Landraces endemic to Iran are a genetic resource that is distinct from other wheat germplasm. In this study, 60 Iranian landrace wheat accessions were characterized AFLP and ISSR markers. Twelve AFLP primer pairs detected 128 polymorphic bands among the sixty genotypes. The mean polymorphism rate based on AFLP data was 31%; however, a wide polymorphism range among primer pairs was observed (22–40%). Polymorphic information content (PIC value) calculated to assess the informativeness of each marker ranged from 0.28 to 0.4, with a mean of 0.37. According to AFLP molecular data, cluster analysis grouped the genotypes in five distinct clusters. .ISSR markers generated 68 bands (average of 6 bands per primer), which 31 were polymorphic (45%) across the 60 wheat genotypes. Polymorphism information content (PIC) value for ISSR markers was calculated in the range of 0.14 to 0.48 with an average of 0.33. Based on data achieved by ISSR-PCR, cluster analysis grouped the genotypes in three distinct clusters. Both AFLP and ISSR markers able to showed that high level of genetic diversity in Iranian landrace wheat accessions has maintained a relatively constant level of genetic diversity during last years.

Keywords: wheat, genetic diversity, AFLP, ISSR

Procedia PDF Downloads 420

Authors: K. Yahia, M. Sahraoui, A. Guettaf

Abstract:

This paper deals with the problem of stator faults diagnosis in induction motors. Using the discrete wavelet transform (DWT) for the current Park’s vector modulus (CPVM) analysis, the inter-turn short-circuit faults diagnosis can be achieved. This method is based on the decomposition of the CPVM signal, where wavelet approximation and detail coefficients of this signal have been extracted. The energy evaluation of a known bandwidth detail permits to define a fault severity factor (FSF). This method has been tested through the simulation of an induction motor using a mathematical model based on the winding-function approach. Simulation, as well as experimental results, show the effectiveness of the used method.

Keywords: induction motors (IMs), inter-turn short-circuits diagnosis, discrete wavelet transform (DWT), Current Park’s Vector Modulus (CPVM)

Procedia PDF Downloads 431