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 phenotypic characteristics in the interior spaces are seeing the result of the ability of the designer in his handling of the vocabulary and the elements to deliver a specific meaning for the recipient , and is working to stir up the receiver and make it effective in the process of perception of space. So the theme of the role of phenotypic characteristics is of great significance in the process of analyzing spaces to reach the goal of the main idea , and show those qualities through relationships design in terms of shape, color and texture ... etc. , to reach also designs more beautiful , and creating an internal environment , creative and continuous with its external environment , Hence the importance of research in that it tries t
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Background: the most common underlying cause of left ventricular (LV) diastolic dysfunction is myocardial ischemia. Diastolic dysfunction has been reported in up to 90% of patients with coronary artery disease.
Climate change poses a difficult challenge to social justice, people are not equally affected by climate change, especially the most vulnerable groups in developing countries because they are least prepared to face the effects of climate change, and the term climate justice is used to consider human rights, equality and historical responsibility in relation to climate change, and concepts of environmental justice can In particular, social justice in general is to achieve climate justice through the implementation of human rights, and within the framework of international efforts to confront climate change, the 2015 Paris Agreement was adopted, which included mechanisms based on transparency and subject to international review, and recogn
... Show MoreAny research focusing on the teaching-learning process must focus on the learner, by mobilizing the various devices to facilitate and optimize learning. In this context, we introduce the integration of educational technologies into a personal learning environment (PLE). The PLE has significant potential for learning; namely self-construction and self-management of knowledge. According to Attwel (2007b), the development and improvement of PLE will lead to drastic changes in the way we use educational technology, as well as in the organization and ethics of education. With the present contribution, we try to modelize the PLE of students within institutions of higher education in Morocco. Based on data from a questionnaire put online using
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Sustainability is providing the needs without compromising the ability of the strategical forming to meet their requirements. The production of warm asphalt mixtures using recycled pavements produces economic and environmentally friendly mixtures, which is the most important advantage of this work. This research aims to determine the effect of recycled asphalt concrete (RAP) on the indirect tensile strength of warm asphalt mixtures and Marshall Properties. Models of warm asphalt mixtures using Aggregate from the Al-Nibaay quarry, Asphalt with a degree of penetration (40-50) from the refinery of the cycle, and obtained Recycled asphalt concrete from Salah Al-Din Road, Al-Ameriya area in Baghdad are prepared. Use five rati
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Over last decade, rapid growth in economic and population accompanied with depletion of the energy resources lead to serious impacts on environment and humanity. This development coupled with active constructions, which in some examples ignore the impact on the environment and human activities. Therefore, principle of sustainability has required in order to reducing this negative impact on the environment and the humanity.In developing countries, it seems that there is a huge gap between the current construction practices and sustainable principle, which need more attention to clarify and define the problems in order to find suitable solutions before it comes more difficult and expensive. The study aims to choose one of the develo
I have written my most important findings in my research are as follows:
The book forty nuclear is one of the writings of the nuclear imam "God's mercy" in which he had collected ahaadeeth from several different sections and diverse, has been described by scientists as the orbit of Islam are all valid conversations.
the duty to pay attention to the Sunnah of the Prophet from the linguistic point of view because it is very rich news and constructional evidence in all sections contained the forty nuclear talks on the news sentences in (30) places divided between the news request, as stated in (13)
home and primary news in (14) home and the news denial in (3) c
... Show MoreThe easternmost Mediterranean Basin is a candidate to be one of the most important hydrocarbon regions in the world, especially after significant gas discoveries in Levantine Basin in 2009. Offshore Syria is one of the easternmost Mediterranean areas which is still an unexplored virgin area. The seismic interpretation results of the study area showed encouraging evidences of considerable hydrocarbon accumulations within different sedimentary successions, which are Direct Hydrocarbon Indicators (DHIs). Indicators such as reflectivity anomalies (flat spots and dim spots) and polarity reversal were found within significant structural highs of Tertiary or/Late Cretaceous and Early Jurassic successions. Also, gas chim
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In this paper, we present a study of examples of writings that are known in the science of Semitic research compared to the texts (Jewish-Arab, Samaritan-Arabic) written in Hebrew script and texts from the Bible. We try to explain the role of these literary works in Islamic history and civilization, as one of the most important documents are the writings (Gniza), which contributed to provide a full presentation on life in the Islamic community in all aspects of life, especially religious activity and showed the sincere relationship in dealing with the other under tolerance The University of Cambridge has prepared Islamic documents and kept them in separate boxes and presented them to researchers to convey the Islamic heritage written by
... Show MoreAbstract Background: Crown lengthening is a surgical procedure that apically positions the gingival edge and/or removes supporting bone in order to increase the amount of supra gingival tooth structure for restorative or cosmetic purposes.
The objective of the study: The purpose of this study was to evaluate the efficacy of the 940nm diode laser in esthetic crown lengthening surgery through clinical observations, patient questionnaires, clinical photographs, and gingival healing following gingival operations. Material and methods: In this randomized clinical trial, 16 patients (11 females and 5 males) had their crowns surgically lengthened using a diode laser (940 nm) in continuou
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