This study was aimed to detect and identify genetic mutations in γ-aminobutyric acid receptor β3 subunit encoding gene (GABRB3) and its association with autism spectrum disorders. Forty autistic patients and 25 non-autistic as control group (5 unaffected sibling and 20 unrelated) with age range from 3 – 10 years were included in this study. Chromosomal DNA was extracted from blood samples followed by polymerase chain reaction (PCR) amplification of two targeted regions which include: (exon2-intron2-exon3) region and (exon 6) region of GABRB3 for subsequent DNA sequencing. Identical bands related to the targeted regions were present in all samples. A sample of PCR products of patients and controls were sequenced. Sequencing results revealed the presence of four different single nucleotide polymorphism (SNPs) in four autistic patients (one SNP in exon2, two SNPs in intron 1 and one SNP in the beginning of intron 3) while four different autistic samples and three from control group had no mutations along this region. Exon 6 showed 100 % sequence identity in all samples (seven autistic and three from control group). The translation of nucleotides sequences into amino acid sequence revealed that the SNP in exon 2 caused a change of amino acid in the polypeptide sequence by changing the codon (AGA) which codes for arginine to (AAA) which codes for lysine. The online software tool, RaptorX was used for the prediction of the three dimensional structure of the polypeptides in which exon 2 carrying one SNP (30 a.a.) showed that 5 (16%) positions predicted as disordered, while the structure prediction of polypeptide translated from exon 3 was not obtained due to its small length (22 a.a.). Structure prediction of polypeptide of exon 6 (46 a.a.) showed that (0%) positions predicted as disordered, considering its lack of mutations. These results suggest the association of the detected SNPs with autism, especially the SNP located in exon 2 considering that it changed the polypeptide three dimensional structure, thus it could possibly alter its function. All SNPs are reported for the first time in this study except the one in intron 3 (rs755863611) which was previously reported.
The authentic traditional architecture proved that it is very convenient to the environmental and social regulations where it appeared and lasted for hundred of years.
This traditional architecture got the intelligence in providing thermal comfort for their occupants by the intelligent usage of the building materials and the intelligent planning and designs which took in consideration the climatic condition and the aerodynamics of the whole city as one ecological system starting from the cold breeze passing through its narrow streets till it enters the dwelling units and glides out through the wind catchers.
This architecture had been neglected and replaced by modern imported architecture which had collap
... Show MoreThis study focuses on the slab-beam interaction in one-way systems. In the context of this study, slab-beam interaction means how beam deflection can affect moment distribution in one-way slabs. This interaction is usually neglected in the traditional approximate analysis that is adopted in engineering practice and design codes. Slab positive moments have been considered as indicators on the accuracy of approximate methods, as they overestimate negative moments while underestimating positive moments.
After proposing of effecting parameters in slab-beam interaction including of panel length and width, beam dimensions, and slab thickness, Buckingham’s theorem has been adopted to transform the dimensional-mo
... Show MoreThe present work investigates the effect of; superficial air velocities of: 1, 3, and 6 cm/s for two types of perforated distributor on hydrodynamic characteristic in a gas-liquid dispersion column of; air-water, and airaqueous-n-propanol solution. Bubble distribution, gas holdup, and power consumption are parameters take in consideration. Experimental work was carried out in perspex column of 8.5 cm inside diameter and 1.5 m height. Two types of bubble generator (perforated plate) were fixed at the bottom of the column; plate A (99 holes of 0.5 mm diameter and free area of 0.34%), plate B (20 holes of 1.5 mm diameter and free area of 0.62%). Photographic technique was used to measure the bubble parameters. The experimental results were
... Show MoreThe primary focus of the study factor reverse polymerization styrene polymer kinetics and distribution weight Aljaia in Blma Aldhur free reverse The study was conducted wi Mamahakah and using the Monte Carlo method
In the period immediately following the end of World War II, American theatre was transformed by the work of playwright Arthur Miller. Miller tapped into a sense of dissatisfaction and unrest within the greater American psyche because he was profoundly influenced by the depression and the war that immediately followed it. His dramas proved to be both the conscience and redemption of the times; allowing people an honest view of the direction the country had taken.1 Miller has his own concept of tragedy as a modern playwright. He believes that tragedy may depict ordinary people in domestic surroundings instead of talking about a character from a high rank, a king or a queen. Miller’s main concern lies in dramatizing the whole man as he i
... Show MoreThe aim of this research is to identify the availability of quality standards for the websites of the Palestinian TV channels and to provide an assessment of the quality standards used by the websites of TV Channels web sites in general and Palestinian TV channels in particular. Through the use of the method of media survey method descriptive methods, and the research has reached the difference in the application of quality standards for TV Channels sites in the web sites of Palestinian TV Channels, and the development of language of visual communication for the design of those sites in exchange for the lack of access to those sites of the technical possibilities that is Provided by the Internet.
Means the current research study in the direction iconic structures plates Ottoman calligraphers , as they took turn in this area and because it excelled in the form of a strong incentive and motivation to seek calligraphers in this direction so as to simulate the skill of the artist and parallel to the side of his creativity as well.And iconography , RECEIVED of objective vision and aesthetic and semantic in the output of compositions written according to the specific significance and this has a clear impact on the propensity to develop technical and aesthetic and expressive in the output of the structure of synthetic iconography is limited by rules or building in the form of public panel linear . And that all forms , whether animal , h
... Show MoreThe process of risk assessment in the build-operate transfer (BOT) project is very important to identify and analyze the risks in order to make the appropriate decision to respond to them. In this paper, AHP Technique was used to make the appropriate decision regarding response to the most prominent risks that were generated in BOT projects, which includes a comparison between the criteria for each risk as well as the available alternatives and by mathematical methods using matrices to reach an appropriate decision to respond to each risk.Ten common risks in BOT contracts are adopted for analysis in this paper, which is grouped into six main risk headings.The procedures followed in this paper are the questionnaire method
... Show MoreAn ingrowing toenail is a common problem affecting mainly adolescents and young adults, with a male predominance of 3:1. The disorder generally occurs in big toes. It is painful and often chronic and it affects work and social activities. Most patients initially complain of pain and later discharge, infection and difficulty in walking occur. The Objectives: The purpose of the study was to evaluate the efficacy and safety of (10600nm) CO2 laser in the treatment of ingrowing toe nail. Patients, Materials & Methods: This study was done in laser medicine research clinics from July 2013 to the end of December 2013; 10 patients including 7(70%) males and 3 (30%) females with age ranging from 18 years to 70 years with mean age of 44 years o
... Show MoreUsing the traditional methods in teaching Islamic subject have neglected student's role and focus mainly toward teacher. Thus, the role of student in teaching process would take a negative side: following these methods cannot achieve the educational objectives of Islamic subject. Teachers who give Islamic subject do not have a full knowledge of the appropriate techniques in teaching. They lack the scientific background that qualify them for teaching. The weakness of knowledge that face Islamic teachers have arisen over different stages of education which showed their lacking in the provision of intonation and interpretation of the Quran as well as the utterance of Prophet Mohammed Hadiths. It takes time to train teachers to do a
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