Search results for: genotype variations

Authors: Sami W. Tabsh

Abstract:

The strength of reinforced concrete depends on the member dimensions and material properties. The properties of concrete and steel materials are not constant but random variables. The variability of concrete strength is due to batching errors, variations in mixing, cement quality uncertainties, differences in the degree of compaction and disparity in curing. Similarly, the variability of steel strength is attributed to the manufacturing process, rolling conditions, characteristics of base material, uncertainties in chemical composition, and the microstructure-property relationships. To account for such uncertainties, codes of practice for reinforced concrete design impose resistance factors to ensure structural reliability over the useful life of the structure. In this investigation, the effects of reductions in concrete and reinforcing steel strengths from the nominal values, beyond those accounted for in the structural design codes, on the structural reliability are assessed. The considered limit states are flexure, shear and axial compression based on the ACI 318-11 structural concrete building code. Structural safety is measured in terms of a reliability index. Probabilistic resistance and load models are compiled from the available literature. The study showed that there is a wide variation in the reliability index for reinforced concrete members designed for flexure, shear or axial compression, especially when the live-to-dead load ratio is low. Furthermore, variations in concrete strength have minor effect on the reliability of beams in flexure, moderate effect on the reliability of beams in shear, and sever effect on the reliability of columns in axial compression. On the other hand, changes in steel yield strength have great effect on the reliability of beams in flexure, moderate effect on the reliability of beams in shear, and mild effect on the reliability of columns in axial compression. Based on the outcome, it can be concluded that the reliability of beams is sensitive to changes in the yield strength of the steel reinforcement, whereas the reliability of columns is sensitive to variations in the concrete strength. Since the embedded target reliability in structural design codes results in lower structural safety in beams than in columns, large reductions in material strengths compromise the structural safety of beams much more than they affect columns.

Keywords: code, flexure, limit states, random variables, reinforced concrete, reliability, reliability index, shear, structural safety

Procedia PDF Downloads 408

Authors: Andres Mejia-Ortiz, Catalina Lozada, German R. Santos, Rafael Angulo-Jaramillo, Bernardo Caicedo

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The interaction between atmospheric variables and soil properties is a determining factor when evaluating the flow of water through the soil. This interaction situation directly determines the behavior of the soil and greatly influences the changes that occur in it. The atmospheric variations such as changes in the relative humidity, air temperature, wind velocity and precipitation, are the external variables that reflect a greater incidence in the changes that are generated in the subsoil, as a consequence of the water flow in descending and ascending conditions. These environmental variations have a major importance in the study of the soil because the conditions of humidity and temperature in the soil surface depend on them. In addition, these variations control the thickness of the unsaturated zone and the position of the water table with respect to the surface. However, understanding the relationship between the atmosphere and the soil is a somewhat complex aspect. This is mainly due to the difficulty involved in estimating the changes that occur in the soil from climate changes; since this is a coupled process where act processes of mass transfer and heat. In this research, an experimental field was implemented to study in-situ the interaction between the atmosphere and the soft soils of the city of Bogota, Colombia. The soil under study consists of a 60 cm layer composed of two silts of similar characteristics at the surface and a deep soft clay deposit located under the silky material. It should be noted that the vegetal layer and organic matter were removed to avoid the evapotranspiration phenomenon. Instrumentation was carried on in situ through a field disposal of many measuring devices such as soil moisture sensors, thermocouples, relative humidity sensors, wind velocity sensor, among others; which allow registering the variations of both the atmospheric variables and the properties of the soil. With the information collected through field monitoring, the water balances were made using the Hydrus-1D software to determine the flow conditions that developed in the soil during the study. Also, the moisture profile for different periods and time intervals was determined by the balance supplied by Hydrus 1D; this profile was validated by experimental measurements. As a boundary condition, the actual evaporation rate was included using the semi-empirical equations proposed by different authors. In this study, it was obtained for the rainy periods a descending flow that was governed by the infiltration capacity of the soil. On the other hand, during dry periods. An increase in the actual evaporation of the soil induces an upward flow of water, increasing suction due to the decrease in moisture content. Also, cracks were developed accelerating the evaporation process. This work concerns to the study of soil-atmosphere interaction through the experimental field and it is a very useful tool since it allows considering all the factors and parameters of the soil in its natural state and real values of the different environmental conditions.

Keywords: field monitoring, soil-atmosphere, soft soils, soil-water balance

Procedia PDF Downloads 118

Authors: K. A. Gladkova, N. P. Babushkina, E. Y. Bragina

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Purpose: Tuberculosis (TB), caused by Mycobacterium tuberculosis, is one of the major public health problems worldwide. It is clear that the immune response to M. tuberculosis infection is a relationship between inflammatory and anti-inflammatory responses in which Tumour Necrosis Factor-α (TNF-α) plays key roles as a pro-inflammatory cytokine. TNF-α involved in various cell immune responses via binding to its two types of membrane-bound receptors, TNFRSF1A and TNFRSF1B. Importantly, some variants of the TNFRSF1B gene have been considered as possible markers of host susceptibility to TB. However, the possible impact of such TNF-α and its receptor genes polymorphism on TB cases in Tomsk is missing. Thus, the purpose of our study was to investigate polymorphism of TNF-α (rs1800629) and its receptor TNFRSF1B (rs652625 and rs525891) genes in population of Tomsk and to evaluate their possible association with the development of pulmonary TB. Materials and Methods: The population distribution features of genes polymorphisms were investigated and made case-control study based on group of people from Tomsk. Human blood was collected during routine patients examination at Tomsk Regional TB Dispensary. Altogether, 234 TB-positive patients (80 women, 154 men, average age is 28 years old) and 205 health-controls (153 women, 52 men, average age is 47 years old) were investigated. DNA was extracted from blood plasma by phenol-chloroform method. Genotyping was carried out by a single-nucleotide-specific real-time PCR assay. Results: First, interpopulational comparison was carried out between healthy individuals from Tomsk and available data from the 1000 Genomes project. It was found that polymorphism rs1800629 region demonstrated that Tomsk population was significantly different from Japanese (P = 0.0007), but it was similar with the following Europeans subpopulations: Italians (P = 0.052), Finns (P = 0.124) and British (P = 0.910). Polymorphism rs525891 clear demonstrated that group from Tomsk was significantly different from population of South Africa (P = 0.019). However, rs652625 demonstrated significant differences from Asian population: Chinese (P = 0.03) and Japanese (P = 0.004). Next, we have compared healthy individuals versus patients with TB. It was detected that no association between rs1800629, rs652625 polymorphisms, and positive TB cases. Importantly, AT genotype of polymorphism rs525891 was significantly associated with resistance to TB (odds ratio (OR) = 0.61; 95% confidence interval (CI): 0.41-0.9; P < 0.05). Conclusion: To the best of our knowledge, the polymorphism of TNFRSF1B (rs525891) was associated with TB, while genotype AT is protective [OR = 0.61] in Tomsk population. In contrast, no significant correlation was detected between polymorphism TNF-α (rs1800629) and TNFRSF1B (rs652625) genes and alveolar TB cases among population of Tomsk. In conclusion, our data expands the molecular particularities associated with TB. The study was supported by the grant of the Russia for Basic Research #15-04-05852.

Keywords: polymorphism, tuberculosis, TNF-α, TNFRSF1B gene

Procedia PDF Downloads 157

Authors: Hassan M. Baioumy, Yuniarti Ulfa

Abstract:

Paleozoic, Mesozoic and Cenozoic black shales that can be a potential source of energy and precious metals are widely distributed in Malaysia Peninsula, Sarawak and Sabah. Two Paleozoic black shales outcrops were reported in the Langkawi Island belonging to the Cambrian fluvial Machinchang Formation and the Silurian glaciomarine Singa Formation. More the seventeen occurrences of Paleozoic black shales outcrops have been found in the Peninsular Malaysia that range in age from Devonian, Carboniferous, and Permian in the Terengganu, Perlis, Pahang, and Perak States. Mesozoic black shales outcrops occur in several places in both the Peninsular Malaysia and Sarawak. In the Peninsular Malaysia, Triassic black shales occur in the Nami area, Northern Kedah and in the Pahang area. In Sarawak, Triassic black shales have been reported in the Bau area. Cenozoic black shales outcrops were reported in both Sarawak at Miri area and Sabah at the Ranau and Tenom areas. Preliminary mineralogical and geochemical investigations on some of these black shales outcrops showed distinct compositional variations among these black shales outcrops probably due to variations in their source area composition and/or depositional and diagenetic settings of these shales. Some of these shalese also subjected to post-depositional hydrothermal mineralization that enriched these shales with Au-bearing minerals such as pyrite, calchopyrite, and arsenopyrite. Many of the studied black shales outcrops look rich in organic matter, which increase the possibility of using these black shales as an unconventional energy resource.

Keywords: black shales, energy, mineralization, Malaysia

Procedia PDF Downloads 393

Authors: P. M. Sreekanth

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Teak (Tectona grandis L. f.) is a tree species indigenous to India and other Southeastern countries. It produces high-value timber and is easily established in plantations. Reforestation requires a constant supply of high quality seeds. Seed Production Areas (SPA) of teak are improved stands used for collection of open-pollinated quality seeds in large quantities. Information on the genetic diversity of major teak SPAs in India is scanty. The genetic structure of four important seed production areas of Kerala State in Southern India was analyzed employing amplified fragment length polymorphism markers using ten selective primer combinations on 80 samples (4 populations X 20 trees). The study revealed that the gene diversity of the SPAs varied from 0.169 (Konni SPA) to 0.203 (Wayanad SPA). The percentage of polymorphic loci ranged from 74.42 (Parambikulam SPA) to 84.06 (Konni SPA). The mean total gene diversity index (HT) of all the four SPAs was 0.2296 ±0.02. A high proportion of genetic diversity was observed within the populations (83%) while diversity between populations was lower (17%) (GST = 0.17). Principal coordinate analysis and STRUCTURE analysis of the genotypes indicated that the pattern of clustering was in accordance with the origin and geographic location of SPAs, indicating specific identity of each population. A UPGMA dendrogram was prepared and showed that all the twenty samples from each of Konni and Parambikulam SPAs clustered into two separate groups, respectively. However, five Nilambur genotypes and one Wayanad genotype intruded into the Konni cluster. The higher gene flow estimated (Nm = 2.4) reflected the inclusion of Konni origin planting stock in the Nilambur and Wayanad plantations. Evidence for population structure investigated using 3D Principal Coordinate Analysis of FAMD software 1.30 indicated that the pattern of clustering was in accordance with the origin of SPAs. The present study showed that assessment of genetic diversity in seed production plantations can be achieved using AFLP markers. The AFLP fingerprinting was also capable of identifying the geographical origin of planting stock and there by revealing the occurrence of the errors in genotype labeling. Molecular marker-based selective culling of genetically similar trees from a stand so as to increase the genetic base of seed production areas could be a new proposition to improve quality of seeds required for raising commercial plantations of teak. The technique can also be used to assess the genetic diversity status of plus trees within provenances during their selection for raising clonal seed orchards for assuring the quality of seeds available for raising future plantations.

Keywords: AFLP, genetic structure, spa, teak

Procedia PDF Downloads 291

Authors: Anjali Bansal

Abstract:

Reproductive preferences mainly deal with two questions: when a couple wants children and how many they want. Questions related to these desires are often included in the fertility surveys as they can provide relevant information on the subsequent behavior. The aim of the study is to observe whether respondent’s response to these questions changed over time or not. We also tried to identify socio- economic and demographic factors associated with the stability (or instability) of fertility preferences. For this purpose, we used IHDS1 (2004-05) and follow up survey IHDS2 (2011-12) data and applied bivariate, multivariate and multilevel repeated measure analysis to it to find the consistency between responses. From the analysis, we found that preferences of women changes over the course of time as from the bivariate analysis we have found that 52% of women are not consistent in their desired family size and huge inconsistency are found in desire to continue childbearing. To get a better overlook of these inconsistencies, we have computed Intra Class Correlation (ICC) which tries to explain the consistency between individuals on their fertility responses at two time periods. We also explored that husband’s desire for additional child specifically male offspring contribute to these variations. Our findings lead us to a cessation that in India, individuals fertility preferences changed over a seven-year time period as the Intra Class correlation comes out to be very small which explains the variations among individuals. Concerted efforts should be made, therefore, to educate people, and conduct motivational programs to promote family planning for family welfare.

Keywords: change, consistency, preferences, over time

Procedia PDF Downloads 144

Authors: Doran C. Kalmin

Abstract:

The descending genicular artery (DGA) perforator free flap provides an alternative to free flap reconstruction based on a review of the literature detailing both anatomical and clinical studies. The descending genicular artery (DGA) supplies skin, muscle, tendon, and bone located around the medial aspect of the knee that has been used in several pioneering reports in reconstructing defects located in various areas throughout the body. After the success of the medial femoral condyle flap in early studies, a small number of studies have been published detailing the use of the DGA in free flap reconstruction. Despite early success in the use of the DGA flap, acceptance within the Plastic and Reconstructive Surgical community has been limited due primarily to anatomical variations of the pedicle. This literature review is aimed at detailing the progression of the DGA perforator free flap and its variations as an alternative and reliable free flap for reconstruction of composite defects with an exploration into both anatomical and clinical studies. A literature review was undertaken, and the progression of the DGA flap is explored from the early review by Acland et al. pioneering the saphenous free flap to exploring modern changes and studies of the anatomy of the DGA. An extensive review of the literature was undertaken that details the anatomy and its variations, approaches to harvesting the flap, the advantages, and disadvantages of the DGA perforator free flap as well as flap outcomes. There are 15 published clinical series of DGA perforator free flaps that incorporate cutaneous, osteoperiosteal, cartilage, osteocutaneous, osteoperiosteal and muscle, osteoperiosteal and subcutaneous and tendocutatenous. The commonest indication for using a DGA free flap was for non-union of bone, particularly that of the scaphoid whereby the medial femoral condyle could be used. In the case series, a success rate of over 90% was established, showing that these early studies have had good success with a wide range of tissue transfers. The greatest limitation is the anatomical variation of the DGA and therefore, the challenges associated with raising the flap. Despite the variation in anatomy and around 10-15% absence of the DGA, the saphenous artery can be used as well as the superior medial genicular artery if the vascular bone is required as part of the flap. Despite only a handful of anatomical and clinical studies describing the DGA perforator free flap, it ultimately provides a reliable flap that can include a variety of composite structure used for reconstruction in almost any area throughout the body. Although it has limitations, it provides a reliable option for free flap reconstruction that can routinely be performed as a single-stage procedure.

Keywords: anatomical study, clinical study, descending genicular artery, literature review, perforator free flap reconstruction

Procedia PDF Downloads 123

Authors: Faisal Alsaaq

Abstract:

Hydrographic surveys have traditionally relied on the availability of tide information for the reduction of sounding observations to a common datum. In most cases, tide information is obtained from tide gauge observations and/or tide predictions over space and time using local, regional or global tide models. While the latter often provides a rather crude approximation, the former relies on tide gauge stations that are spatially restricted, and often have sparse and limited distribution. A more recent method that is increasingly being used is Global Navigation Satellite System (GNSS) positioning which can be utilised to monitor height variations of a vessel or buoy, thus providing information on sea level variations during the time of a hydrographic survey. However, GNSS heights obtained under the dynamic environment of a survey vessel are affected by “non-tidal” processes such as wave activity and the attitude of the vessel (roll, pitch, heave and dynamic draft). This research seeks to examine techniques that separate the tide signal from other non-tidal signals that may be contained in GNSS heights. This requires an investigation of the processes involved and their temporal, spectral and stochastic properties in order to apply suitable recovery techniques of tide information. In addition, different post-mission and near real-time GNSS positioning techniques will be investigated with focus on estimation of height at ocean. Furthermore, the study will investigate the possibility to transfer the chart datums at the location of tide gauges.

Keywords: hydrography, GNSS, datum, tide gauge

Procedia PDF Downloads 244

Authors: Cheng-Yang Lee, Petrus Tang, Tzu-Hao Chang

Abstract:

Copy number variations (CNVs) have played an important role in many kinds of human diseases, such as Autism, Schizophrenia and a number of cancers. Many diseases are found in genome coding regions and whole exome sequencing (WES) is a cost-effective and powerful technology in detecting variants that are enriched in exons and have potential applications in clinical setting. Although several algorithms have been developed to detect CNVs using WES and compared with other algorithms for finding the most suitable methods using their own samples, there were not consistent datasets across most of algorithms to evaluate the ability of CNV detection. On the other hand, most of algorithms is using command line interface that may greatly limit the analysis capability of many laboratories. We create a series of simulated WES datasets from UCSC hg19 chromosome 22, and then evaluate the CNV detective ability of 19 algorithms from OMICtools database using our simulated WES datasets. We compute the sensitivity, specificity and accuracy in each algorithm for validation of the exome-derived CNVs. After comparison of 19 algorithms from OMICtools database, we construct a platform to install all of the algorithms in a virtual machine like VirtualBox which can be established conveniently in local computers, and then create a simple script that can be easily to use for detecting CNVs using algorithms selected by users. We also build a table to elaborate on many kinds of events, such as input requirement, CNV detective ability, for all of the algorithms that can provide users a specification to choose optimum algorithms.

Keywords: whole exome sequencing, copy number variations, omictools, pipeline

Procedia PDF Downloads 288

Authors: M. Taleb, G. Tail, F. Z. Kara, B. Djedouani T. Moussa

Abstract:

Necrophagous insects usually colonize cadavers within a short time after death. However, they are influenced by weather conditions, and their distribution and activity vary according to different time scales, which can affect the post-mortem interval (PMI) estimation. As no data have been published in Algeria on necrophagous insects visiting corpses, two field surveys were conducted in July 2012 and March 2013 at the National Institute for Criminalistics and Criminology (INCC) using rabbit carcasses (Oryctolagus cuniculus L.). The trials were designed to identify the necrophagous Diptera fauna of Algiers, Algeria and examine their variations according to environmental variables. Four hundred and eighteen Diptera adults belonging to five families were captured during this study. The species which were identified on human corpses in different regions of Algeria were also observed on the rabbit carcasses. Although seasonal variations of the species were observed, their abundance did not significantly vary between the two seasons. In addition to seasonal effects, the ambient temperature, the wind speed, and precipitation affect the number of trapped flies. These conclusions highlight the necessity of considering the environmental factors at a scene to estimate the post-mortem interval accurately. It is hoped that these findings provide basic information regarding the necrophagous Diptera fauna of Algeria.

Keywords: forensic entomology, necrophagous diptera, post-mortem interval, abiotic factors, Algeria

Procedia PDF Downloads 363

Authors: M. Szechynska-Hebda, M. Sobczak, E. Rozanska, J. Troczynska, Z. Banaszak, N. Hordyńska, M. Dyda, M. Wedzony

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Chloroplasts, as essential organelles for photosynthesis, play a critical role in plant development. However, disturbances in the proper functioning of chloroplasts, in the extreme case manifesting as albinism of tissues and whole plants, are a phenomenon often occurring in conditions deviating from natural (e.g., in vitro cultures applied in breeding programs). Using whole-transcriptome analysis (RNA-Seq) together with light, fluorescent and electron microscopy, it was shown, that development of chloroplasts and formation of green or albino plants in the androgenesis process are genotype-dependent; however, they could be modulated by sub-optimal temperature treatment. The reprogramming of the microspore development from gametophytic to sporophytic, and then regeneration of green plant can be positively regulated by cold stress (4 ⁰C). A high temperature stress (32 ⁰C) can induce androgenesis, but it is a factor negatively influencing green plant regeneration (promoting albinism). A similar effect on microspores, androgenesis, and subsequent chloroplast formation, is elicited as a result of postponing the date of spike collection from spring to summer in field conditions (natural temperature rise). It is determined in both environmental or genotypic manner. The delay of the sowing date (environmental effect) or growing of late genotypes (genotypic effect) result in spike maturation at higher temperatures and significantly enhance albino plant formation in androgenesis process. Such a temperature system (4 ⁰C vs. 32 ⁰C) was used to study the chloroplast biogenesis process in wheat and triticale. It was shown, that efficiency of physiological processes differentiates microspore development during cold reprograming in genotypes susceptible and resistant to androgenesis. Moreover, a great variation in developmental stages of the microspores in one anther is observed for susceptible genotypes. Microspores that are more physiologically active under cold conditions can activate signaling pathways and processes, which provide an appropriate supply of metabolites to cell compartments. This, in turn, fully correlates with the genotype-dependent efficiency of chloroplast formation (or different types of plastid) at particular steps of androgenesis. The effect obtained after applying a high temperature stress is different. High temperature causes a significant acceleration of microspore development and less variation in developmental stages at the end of the treatment. Therefore, the developmental diversity of the microspores in one anther seems to be a critical factor for subsequent cell and chloroplast differentiation. The work was financed by Ministry of Agriculture and Rural Development within Program: 'Biological Progress in Plant Production', project no HOR.hn.802.15.2018

Keywords: androgenesis, chloroplast biogenesis, temperature stress, wheat

Procedia PDF Downloads 129

Authors: Hassan Baioumy, Yuniarti Ulfa, Mohd Nawawi, Mohammad Noor Akmal Anuar

Abstract:

Paleozoic, Mesozoic and Cenozoic black shales that can be a potential source of energy and precious metals are widely distributed in Malaysia Peninsula, Sarawak and Sabah. Two Paleozoic black shales outcrops were reported in the Langkawi Island belonging to the Cambrian fluvial Machinchang Formation and the Silurian glaciomarine Singa Formation. More the seventeen occurrences of Paleozoic black shales outcrops have been found in the Peninsular Malaysia that range in age from Devonian, Carboniferous, and Permian in the Terengganu, Perlis, Pahang, and Perak States. Mesozoic black shales outcrops occur in several places in both the Peninsular Malaysia and Sarawak. In the Peninsular Malaysia, Triassic black shales occur in the Nami area, Northern Kedah and in the Pahang area. In Sarawak, Triassic black shales have been reported in the Bau area. Cenozoic black shales outcrops were reported in both Sarawak at Miri area and Sabah at the Ranau and Tenom areas. Preliminary mineralogical and geochemical investigations on some of these black shales outcrops showed distinct compositional variations among these black shales outcrops probably due to variations in their source area composition and/or depositional and diagenetic settings of these shales. Some of these shalese also subjected to post-depositional hydrothermal mineralization that enriched these shales with Au-bearing minerals such as pyrite, calchopyrite, and arsenopyrite. Many of the studied black shales outcrops look rich in organic matter, which increase the possibility of using these black shales as an unconventional energy resource.

Keywords: black shales, energy, mineralization, Malaysia

Procedia PDF Downloads 506

Authors: I Dewa Gede Arya Putra

Abstract:

Principal Component Analysis (PCA) is a mathematical procedure that uses orthogonal transformation techniques to change a set of data with components that may be related become components that are not related to each other. This can have an impact on clustering wind speed characteristics in Indonesia. This study uses data daily wind speed observations of the Site Meteorological Station network for 30 years. Multicollinearity tests were also performed on all of these data before doing clustering with PCA. The results show that the four main components have a total diversity of above 80% which will be used for clusters. Division of clusters using Ward's method obtained 3 types of clusters. Cluster 1 covers the central part of Sumatra Island, northern Kalimantan, northern Sulawesi, and northern Maluku with the climatological pattern of wind speed that does not have an annual cycle and a weak speed throughout the year with a low-speed ranging from 0 to 1,5 m/s². Cluster 2 covers the northern part of Sumatra Island, South Sulawesi, Bali, northern Papua with the climatological pattern conditions of wind speed that have annual cycle variations with low speeds ranging from 1 to 3 m/s². Cluster 3 covers the eastern part of Java Island, the Southeast Nusa Islands, and the southern Maluku Islands with the climatological pattern of wind speed conditions that have annual cycle variations with high speeds ranging from 1 to 4.5 m/s².

Keywords: PCA, cluster, Ward's method, wind speed

Procedia PDF Downloads 168

Authors: Y. Z. Gad

Abstract:

Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. The DSD are relatively prevalent in Egypt. In spite of that, the relative rarity of the individual disease types or their molecular pathologies frequently resulted in reporting on single or few cases. This augmented the challenging nature of phenotype-genotype correlation in this disease group and its utilization in the management of such medical emergency. Through critical assessment of the published DSD reports, the current review aims at analyzing the clinical characteristics of the various DSD forms in relation to the underlying molecular pathologies. A systematic literature search was done in Pubmed, using relevant keywords (Egypt versus DSD, genital ambiguity or ambiguous genitalia, the old terms of 'intersex, hermaphroditism and pseudohermaphroditism', and a list of the DSD entities and their related genes). The search yielded 24 reports of molecular data in Egyptian patients presenting with ambiguous genitalia. However, only 21 publications fulfilled the criteria of inclusion of detailed clinical descriptions and definitive molecular diagnoses of individual patients. Curation of the data yielded a total of 53 cases that were ascertained from 40 families. Fifty-one patients present with ambiguous genitalia only while 2 had multiple congenital anomalies. Parental consanguinity was noted in 60% of cases. Sex of rearing at initial presentation was female in 75% and 60% in 46,XY and 46,XX DSD cases, respectively. The external genital phenotype in 2/3 of the 46,XY DSD cases showed moderate undermasculinization [Quigley scores 3 & 4] and 1/3 had severe presentations [scores 5 & 6]. For 46,XX subjects, 1 had severe virilization of the external genitalia while 8 had moderate phenotype. Hormonal data were inconclusive or contradictory to final diagnosis in a forth of cases. Collectively, 31 families [31/40, 77.5%] with 46,XY DSD had molecular defects in the genes, 5 alpha reductase 2 (SRD5A2) [12/31], 17 beta-hydroxysteroid dehydrogenase 3 [8/31], androgen receptor [7/31], Steroidogenic factor 1 [2/31], luteinizing hormone receptor [1/31], and fibroblast growth factor receptor 1 [1/31]. In a multiethnic study, 9 families afflicted with 46,XX DSD due to 11 beta hydroxylase (CYP11B1) deficiency were documented. Two recurrent mutations, G34R and N160D, in SRD5A2 were present, respectively, in 42 and 17% of cases. Similarly, 4 recurrent mutations resulted in 89% of the CYP11B1 presentations. In conclusion, this analysis highlights the importance of autosomal recessive inheritance and inbreeding among DSD presentations, the importance of founder effect in at least 2 disorders, the difficulties in relating the genotype with the indeterminate genital phenotype, the under-reporting of some DSD subtypes, and the notion that the reported mutational profiles among Egyptian DSD cases are relatively different from those reported in other ethnic groups.

Keywords: disorders of sex development, genital ambiguity, mutation, molecular diagnosis, Egypt

Procedia PDF Downloads 111

Authors: I. Boroňová, J. Bernasovská, J. Kľoc, Z. Tomková, E. Petrejčíková, S. Mačeková, J. Poráčová, M. M. Blaščáková

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Osteoporosis is a common multifactorial disease with a strong genetic component characterized by reduced bone mass and increased risk of fractures. Genetic factors play an important role in the pathogenesis of osteoporosis. The aim of our study was to identify the genotype and allele distribution of T245G polymorphism in OPG gene in Slovak postmenopausal women. A total of 200 unrelated Slovak postmenopausal women with diagnosed osteoporosis and 200 normal controls were genotyped for T245G (rs3134069) polymorphism of OPG gene. Genotyping was performed using the Custom Taqman®SNP Genotyping assays. Genotypes and alleles frequencies showed no significant differences (p=0.5551; p=0.6022). The results of the present study confirm the importance of T245G polymorphism in OPG gene in the pathogenesis of osteoporosis.

Keywords: OPG gene, T245G polymorphism, osteoporosis, T245G polymorphism, real-time PCR

Procedia PDF Downloads 386

Authors: S. J. Kim, Y. J. Yoo

Abstract:

Slack-tide sampling was carried out at seven stations at high and low tides for a tidal cycle, in summer (7, 8, 9) and fall (10), 2016 to determine the differences of water quality according to tides in Masan Bay. The data were analyzed by Pearson correlation and factor analysis. The mixing state of all the water quality components investigated is well explained by the correlation with salinity (SAL). Turbidity (TURB), dissolved silica (DSi), nitrite and nitrate nitrogen (NNN) and total nitrogen (TN), which find their way into the bay from the streams and have no internal source and sink reaction, showed a strong negative correlation with SAL at low tide, indicating the property of conservative mixing. On the contrary, in summer and fall, dissolved oxygen (DO), hydrogen sulfide (H2S) and chemical oxygen demand with KMnO4 (CODMn) of the surface and bottom water, which were sensitive to an internal source and sink reaction, showed no significant correlation with SAL at high and low tides. The remaining water quality parameters showed a conservative or a non-conservative mixing pattern depending on the mixing characteristics at high and low tides, determined by the functional relationship between the changes of the flushing time and the changes of the characteristics of water quality components of the end-members in the bay. Factor analysis performed on the concentration difference data sets between high and low tides helped in identifying the principal latent variables for them. The concentration differences varied spatially and temporally. Principal factors (PFs) scores plots for each monitoring situation showed high associations of the variations to the monitoring sites. At sampling station 1 (ST1), temperature (TEMP), SAL, DSi, TURB, NNN and TN of the surface water in summer, TEMP, SAL, DSi, DO, TURB, NNN, TN, reactive soluble phosphorus (RSP) and total phosphorus (TP) of the bottom water in summer, TEMP, pH, SAL, DSi, DO, TURB, CODMn, particulate organic carbon (POC), ammonia nitrogen (AMN), NNN, TN and fecal coliform (FC) of the surface water in fall, TEMP, pH, SAL, DSi, H2S, TURB, CODMn, AMN, NNN and TN of the bottom water in fall commonly showed up as the most significant parameters and the large concentration differences between high and low tides. At other stations, the significant parameters showed differently according to the spatial and temporal variations of mixing pattern in the bay. In fact, there is no estuary that always maintains steady-state flow conditions. The mixing regime of an estuary might be changed at any time from linear to non-linear, due to the change of flushing time according to the combination of hydrogeometric properties, inflow of freshwater and tidal action, And furthermore the change of end-member conditions due to the internal sinks and sources makes the occurrence of concentration difference inevitable. Therefore, when investigating the water quality of the estuary, it is necessary to take a sampling method considering the tide to obtain average water quality data.

Keywords: conservative mixing, end-member, factor analysis, flushing time, high and low tide, latent variables, non-conservative mixing, slack-tide sampling, spatial and temporal variations, surface and bottom water

Procedia PDF Downloads 105

Authors: Yan Torres, Fernanda Simoes, Francisco Petrucci-Fonseca, Freddie-Jeanne Richard

Abstract:

The non-invasive samples are an alternative of collecting genetic samples directly. Non-invasive samples are collected without the manipulation of the animal (e.g., scats, feathers and hairs). Nevertheless, the use of non-invasive samples has some limitations. The main issue is degraded DNA, leading to poorer extraction efficiency and genotyping. Those errors delayed for some years a widespread use of non-invasive genetic information. Possibilities to limit genotyping errors can be done using analysis methods that can assimilate the errors and singularities of non-invasive samples. Genotype matching and population estimation algorithms can be highlighted as important analysis tools that have been adapted to deal with those errors. Although, this recent development of analysis methods there is still a lack of empirical performance comparison of them. A comparison of methods with dataset different in size and structure can be useful for future studies since non-invasive samples are a powerful tool for getting information specially for endangered and rare populations. To compare the analysis methods, four different datasets used were obtained from the Dryad digital repository were used. Three different matching algorithms (Cervus, Colony and Error Tolerant Likelihood Matching - ETLM) are used for matching genotypes and two different ones for population estimation (Capwire and BayesN). The three matching algorithms showed different patterns of results. The ETLM produced less number of unique individuals and recaptures. A similarity in the matched genotypes between Colony and Cervus was observed. That is not a surprise since the similarity between those methods on the likelihood pairwise and clustering algorithms. The matching of ETLM showed almost no similarity with the genotypes that were matched with the other methods. The different cluster algorithm system and error model of ETLM seems to lead to a more criterious selection, although the processing time and interface friendly of ETLM were the worst between the compared methods. The population estimators performed differently regarding the datasets. There was a consensus between the different estimators only for the one dataset. The BayesN showed higher and lower estimations when compared with Capwire. The BayesN does not consider the total number of recaptures like Capwire only the recapture events. So, this makes the estimator sensitive to data heterogeneity. Heterogeneity in the sense means different capture rates between individuals. In those examples, the tolerance for homogeneity seems to be crucial for BayesN work properly. Both methods are user-friendly and have reasonable processing time. An amplified analysis with simulated genotype data can clarify the sensibility of the algorithms. The present comparison of the matching methods indicates that Colony seems to be more appropriated for general use considering a time/interface/robustness balance. The heterogeneity of the recaptures affected strongly the BayesN estimations, leading to over and underestimations population numbers. Capwire is then advisable to general use since it performs better in a wide range of situations.

Keywords: algorithms, genetics, matching, population

Procedia PDF Downloads 119

Authors: M. Chňapek, M. Tomka, R. Peroutková, Z. Gálová

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Processes of plant breeding, testing and licensing of new varieties, patent protection in seed production, relations in trade and protection of copyright are dependent on identification, differentiation and characterization of plant genotypes. Therefore, we focused our research on utilization of wheat storage proteins as genetic markers suitable not only for differentiation of individual genotypes, but also for identification and characterization of their considerable properties. We analyzed a collection of 102 genotypes of bread wheat (Triticum aestivum L.), 41 genotypes of spelt wheat (Triticum spelta L.), and 35 genotypes of durum wheat (Triticum durum Desf.), in this study. Our results show, that genotypes of bread wheat and durum wheat were homogenous and single line, but spelt wheat genotypes were heterogenous. We observed variability of HMW-GS composition according to environmental factors and level of breeding and predict technological quality on the basis of Glu-score calculation.

Keywords: genotype identification, HMW-GS, wheat quality, polymorphism

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Authors: Sfiso Radebe

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The design models dealing with flawless composite structures are in abundance, where the mechanical properties of composite structures are assumed to be known a priori. However, if the worst case scenario is assumed, where material defects combined with processing anomalies in composite structures are expected, a different solution is attained. Furthermore, if the system being designed combines in series hybrid elements, individually affected by material constant variations, it implies that a different approach needs to be taken. In the body of literature, there is a compendium of research that investigates different modes of failure affecting hybrid metal-composite structures. It covers areas pertaining to the failure of the hybrid joints, structural deformation, transverse displacement, the suppression of vibration and noise. In the present study a system employing a combination of two or more hybrid power transmitting elements will be explored for the least favourable dynamic loads as well as weight minimization, subject to uncertain material properties. Elastic constants are assumed to be uncertain-but-bounded quantities varying slightly around their nominal values where the solution is determined using convex models of uncertainty. Convex analysis of the problem leads to the computation of the least favourable solution and ultimately to a robust design. This approach contrasts with a deterministic analysis where the average values of elastic constants are employed in the calculations, neglecting the variations in the material properties.

Keywords: convex modelling, hybrid, metal-composite, robust design

Procedia PDF Downloads 191

Authors: K. C. Iyer, T. Gupta, Y. M. Bindal

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Head office overhead (HOOH) is an indirect cost and is recovered through individual project billings by the contractor. Delay in a project impacts the absorption of HOOH cost allocated to that particular project and thus diminishes the expected profit of the contractor. This unabsorbed HOOH cost is later claimed by contractors as damages. The subjective nature of the available formulae to compute unabsorbed HOOH is the difficulty that contractors and owners face and thus dispute it. The paper attempts to bring together the rationale of various HOOH formulae by gathering contractor’s HOOH cost data on all of its project, using case study approach and comparing variations in values of HOOH using scenario analysis. The case study approach uses project data collected from four construction projects of a contractor in India to calculate unabsorbed HOOH costs from various available formulae. Scenario analysis provides further variations in HOOH values after considering two independent situations mainly scope changes and new projects during the delay period. Interestingly, one of the findings in this study reveals that, in spite of HOOH getting absorbed by additional works available during the period of delay, a few formulae depict an increase in the value of unabsorbed HOOH, neglecting any absorption by the increase in scope. This indicates that these formulae are inappropriate for use in case of a change to the scope of work. Results of this study can help both parties in deciding on an appropriate formula more objectively, considering the events on a project causing the delay and contractor's position in respect of obtaining new projects.

Keywords: absorbed and unabsorbed overheads, head office overheads, scenario analysis, scope variation

Procedia PDF Downloads 144

Authors: Fitri Rahmi Fadhilah, Edhyana Sahiratmadja, Ani Melani Maskoen, Ratu Safitri, Supartini Syarif, Herman Susanto

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Cervical cancer is the second most common cancer in women after breast cancer. In Indonesia, the incidence of cervical cancer cases is estimated at 25-40 per 100,000 women per year. Human papillomavirus (HPV) infection is a major cause of cervical cancer, and HPV-16 is the most common genotype that infects the cervical tissue. The major late protein L1 may be associated with infectivity and pathogenicity and its variation can be used to classify HPV isolates. The aim of this study was to determine the phylogenetic tree of HPV 16 L1 gene from cervical cancer patient isolates in Bandung. After confirming HPV-16 by Linear Array Genotyping Test, L1 gene was amplified using specific primers and subject for sequencing. Phylogenetic analysis revealed that HPV 16 from Bandung was in the subgroup of Asia and East Asia, showing the close host-agent relationship among the Asian type.

Keywords: L1 HPV 16, cervical cancer, bandung, phylogenetic

Procedia PDF Downloads 477

Authors: Mohammad Yusuf, Qazi Fariduddin

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The main aim of this study was to explore the different cultivars of Vigna radiata on basis of photosynthesis, antioxidants and proline to assess Ni-sensitive and Ni-tolerant cultivar. Seeds of five different cultivars were sown in soil amended with different levels of Ni (0, 50, 100, or 150 mg kg 1). At 30 d stage, plants were harvested to assess the various parameters. The Ni treatment diminished growth, leaf water potential, chlorophyll content and net photosynthesis along with nitrate reductase and carbonic anhydrase activities in the concentration dependent manner whereas, it enhanced proline content and various antioxidant enzymes. The varieties T-44 found least affected, whereas PDM-139 experienced maximum damage at 150 mg kg-1 of Ni. Moreover, T-44 possessed maximum activity of antioxidant enzymes and proline content at all the levels of metal whereas PDM-139 possessed minimum values. Therefore, T-44 and PDM-139 were established as the most resistant and sensitive varieties, respectively.

Keywords: Vigna radiata, antioxidants, nickel, photosynthesis, proline

Procedia PDF Downloads 191

Authors: S. Sokel, M. Kale

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Norovirus (NoV) infection is effective and contagious in humans and many animals such as calves, pigs, dogs, cats, monkeys. There is not enough evidence about the zoonotic transmission of NoV between humans and animals. However, the fact that contamination of foods and environment by animal/human waste happens in indirect way leads to consideration of the agent as a zoonotic character. In our study, we aim to search the presence of NoV infection, which is a major public health problem, in possessed dogs showing diarrhea symptoms, to detect its genotype and to study nutrition and life conditions. We searched the existence of human NoV GI, GII and GIV in the stool of 128 pet dogs in Burdur Province with diarrhoea in various sex, age and breed by using Real-Time PCR method. Human NoV GII was found in only 5 of the 128 dog stool samples (3.91%). In the study, it was determined that the owners of the dogs with NoV GII are middle aged or elderly people most of whom are male and that there were no children in their houses. As these dogs are treated like the owner’s child, it is assumed that they could be transmitted with NoV GII as a result of close interaction with their owner.

Keywords: dog, human, norovirus, Real-Time PCR, stool

Procedia PDF Downloads 132

Authors: Fumiko Kojima, Shuji Fujimoto

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Anisakiasis is a disease caused by infection with an anisakid larvae, mostly Anisakis simplex. The larvae commonly infect in marine fish and the disease is frequently reported in areas of the world where fish is consumed raw, lightly pickled or salted. In Japan, people have the habit of eating raw fish such as ‘sushi’ or ‘sashimi’, so they have more chance of infection with larvae of anisakid nematodes. There are three sibling species in A. simplex larvae, namely, A. simplex sensu stricto (Asss), A. pegreffii (Ap) and A. simplex C. It was revealed that Ap is dominant among the larvae from fish (Scomber japonics) in the Japan Sea side and Asss is dominant among those of the Pacific Ocean side conversely. Although anisakiasis has happened in Japan among both the Japan Sea side area and the Pacific Ocean side area. The aim of this study was to investigate genetic variations between the siblings (Asss and Ap) and within the same sibling species by random amplified polymorphic DNA (RAPD) technique. In order to investigate the genetic difference among the each A. simplex larvae, we used RAPD technique to differentiate individuals of A. simplex obtained from Scomber japonics fish those were caught in the Japan sea (Goto Islands in Nagasaki Prefecture) and the cost of Pacific Ocean (Kanagawa Prefecture). The RAPD patterns of the control DNA (Genus Raphidascaris) were markedly different from those of the A. simplex. There were differences in amplification patterns between Asss and Ap. The RAPD patterns for larvae obtained from fish of the same sea were somewhat different and variations were detected even among larvae from the same fish. These results suggest the considerable high genetic variability between Asss and Ap and the possible existence of genetic variation within the sibling species.

Keywords: Anisakiasis in Japan, Anisakis simplex, genomic identification, PCR-RAPD

Procedia PDF Downloads 160

Authors: Po-Jung Huang, Chi-Ching Lee, Bertrand Chin-Ming Tan, Yuan-Ming Yeh, Julie Lichieh Chu, Tin-Wen Chen, Cheng-Yang Lee, Ruei-Chi Gan, Hsuan Liu, Petrus Tang

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Whole-exome sequencing focuses on the protein coding regions of disease/cancer associated genes based on a priori knowledge is the most cost-effective method to study the association between genetic alterations and disease. Recent advances in high throughput sequencing technologies and proteomic techniques has provided an opportunity to integrate genomics and proteomics, allowing readily detectable mutated peptides corresponding to mutated genes. Since sequence database search is the most widely used method for protein identification using Mass spectrometry (MS)-based proteomics technology, a mutant proteome database is required to better approximate the real protein pool to improve disease-associated mutated protein identification. Large-scale whole exome/genome sequencing studies were launched by National Cancer Institute (NCI), Broad Institute, and The Cancer Genome Atlas (TCGA), which provide not only a comprehensive report on the analysis of coding variants in diverse samples cell lines but a invaluable resource for extensive research community. No existing database is available for the collection of mutant protein sequences related to the identified variants in these studies. CMPD is designed to address this issue, serving as a bridge between genomic data and proteomic studies and focusing on protein sequence-altering variations originated from both germline and cancer-associated somatic variations.

Keywords: TCGA, cancer, mutant, proteome

Procedia PDF Downloads 566

Authors: Sheetal Sharma

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Runoff,decreasing water levels and recharge in urban areas have been a complex issue now a days pointing defective urban design and increasing demography as cause. Very less has been discussed or analysed for water sensitive Urban Master Plans or local area plans. Land use planning deals with land transformation from natural areas into developed ones, which lead to changes in natural environment. Elaborated knowledge of relationship between the existing patterns of land use-land cover and recharge with respect to prevailing soil below is less as compared to speed of development. The parameters of incompatibility between urban functions and the functions of the natural environment are becoming various. Changes in land patterns due to built up, pavements, roads and similar land cover affects surface water flow seriously. It also changes permeability and absorption characteristics of the soil. Urban planners need to know natural processes along with modern means and best technologies available,as there is a huge gap between basic knowledge of natural processes and its requirement for balanced development planning leading to minimum impact on water recharge. The present paper analyzes the variations in land use land cover and their impacts on surface flows and sub-surface recharge in study area. The methodology adopted was to analyse the changes in land use and land cover using GIS and Civil 3d auto cad. The variations were used in  computer modeling using Storm-water Management Model to find out the runoff for various soil groups and resulting recharge observing water levels in POW data for last 40 years of the study area. Results were anlayzed again to find best correlations for sustainable recharge in urban areas.

Keywords: geology, runoff, urban planning, land use-land cover

Procedia PDF Downloads 289

Authors: Manoj Sarda, Abhishek Agarwal, Juhi Kaushik, Vatsal Sanjay, Arup Kumar Das

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Railways in India remain primary mode of transport having one of the largest networks in the world and catering to billions of transits yearly. Catastrophic economic damage and loss to life is encountered over the past few decades due to fire to locomotives. Study of fire dynamics and fire propagation plays an important role in evacuation planning and reducing losses. Simulation based study of propagation of fire and soot inside an air conditioned coach of Indian locomotive is done in this paper. Finite difference based solver, Fire Dynamic Simulator (FDS) version 6 has been used for analysis. A single air conditioned 3 tier coupe closed to ambient surroundings by glass windows having occupancy for 8 people is the basic unit of the domain. A system of three such coupes combined is taken to be fundamental unit for the entire study to resemble effect to an entire coach. Analysis of flame and soot contours and concentrations is done corresponding to variations in heat release rate per unit volume (HRRPUA) of fire source, variations in conditioned air velocity being circulated inside coupes by vents and an alternate fire initiation and propagation mechanism via ducts. Quantitative results of fractional area in top and front view of the three coupes under fire and smoke are obtained using MATLAB (IMT). Present simulations and its findings will be useful for organizations like Commission of Railway Safety and others in designing and implementing safety and evacuation measures.

Keywords: air conditioned coaches, fire propagation, flame contour, soot flow, train fire

Procedia PDF Downloads 258

Authors: Fathi Ali Swaid

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Soil salinization is one of the most hazardous phenomenons accelerating the land degradation processes. It either occurs naturally or is human-induced. High levels of soil salinity negatively affect crop growth and productivity leading land degradation ultimately. Thus, it is important to monitor and map soil salinity at an early stage to enact effective soil reclamation program that helps lessen or prevent future increase in soil salinity. Geophysical method has outperformed the traditional method for assessing soil salinity offering more informative and professional rapid assessment techniques for monitoring and mapping soil salinity. Soil sampling, EM38 and 2D conductivity imaging have been evaluated for their ability to delineate and map the level of salinity variations at Second Ponds Creek. The three methods have shown that the subsoil in the study area is saline. Salt variations were successfully observed under either method. However, EM38 reading and 2D inversion data show a clear spatial structure comparing to EC1:5 of soil samples in spite of that all soil samples, EM38 and 2D imaging were collected from the same location. Because EM38 readings and 2D imaging data are a weighted average of electrical soil conductance, it is more representative of soil properties than the soil samples method. The mapping of subsurface soil at the study area has been successful and the resistivity imaging has proven to be an advantage. The soil salinity analysis (EC1:5) correspond well to the true resistivity bringing together a good result of soil salinity. Soil salinity clearly indicated by previous investigation EM38 have been confirmed by the interpretation of the true resistivity at study area.

Keywords: 2D conductivity imaging, EM38 readings, soil salinization, true resistivity, urban salinity

Procedia PDF Downloads 347

Authors: St. Subaedah, A. Takdir, Netty, D. Hidrawati

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Maize development at the rainfed lowland after rice is often confronted with the occurrence of drought stress at the time of entering the generative phase, which will cause be hampered crop production. Consequently, in the utilization of the rainfed lowland areas optimally, an effort that can be done using the varieties of early maturity to minimize crop failures due to its short rainy season. The aim of this research was evaluating the potential yield of genotypes of candidates of maize early maturity in the rainfed lowland areas. The study was conducted during May to August 2016 at South Sulawesi, Indonesia. The study used randomized block design to compare 12 treatments and consists of 8 genotypes namely CH1, CH2, CH3, CH4, CH5, CH6, CH7, CH8 and the use of four varieties, namely Bima 3, Bima 7, Lamuru and Gumarang. The results showed that genotype of CH2, CH3, CH5, CH 6, CH7 and CH8 harvesting has less than 90 days. There are two genotypes namely genotypes of CH7 and CH8 that have a fairly high production respectively of 7.16 tons / ha and 8.11 tons/ ha and significantly not different from the superior varieties Bima3.

Keywords: evaluation, early maturity, maize, yield potential

Procedia PDF Downloads 163

Authors: Salem A. Abdalla Bozrayda, Abulgasem M. Hubara

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The use of commercial poultry breeds in Libya may result in large economic losses because genotypes selected in temperate climates may respond differently to other climate conditions and management. Therefore three commercial breeds (Hypeco, Avian, and Shaver) were evaluated in two regions. The data were obtained from weekly records of three parental flocks for each breed at Ghout El-sultan and Tawargha region. Feed Hen Housed (FHH), Hen Housed Egg Production (HHEP) Mortility % were the studied traits. Statistical model include location, year, month, age and breed. Hypeco produced more HHEP 68.6 with Less FHH 22.9 kg but with higher mortility 8.5 % than Avian and shaver breeds. The breeds exhibited different responses to the different months in Libya. In conclusion, the differences, which exhibited between the breeds in traits studied, indicate that genotype x environment must be considered when select breed to perform under Libyan conditions.

Keywords: hypeco avian shaver, feed hen housed, hen housed egg production, mortility, Libya

Procedia PDF Downloads 265