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 creative production of the philosophy of beauty in artistic works constitutes a step towards development and progress by meeting the growing and changing needs of humanity according to various factors, including those related to the human situation and others related to technical outputs, as well as the multiplicity of the field for the emergence of new artistic currents and movements concerned with graphic production and communication and communication processes that It is associated with imagination and freedom from social and cultural constraints, in which the design production seeks to link more realistic intellectual contents with the achievements of the creative artwork as a communication system to involve the recipient (the vi
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That the essential contribution of this research is a description of how complex systems analysis service of the properties of the queue in Baghdad Teaching Hospital using a technique network is techniques method (Q - GERT) an acronym of the words:
Queuing theory _ Graphical Evaluation and Review Technique
Any method of assessment and review chart where you will be see the movement flow of patients within the system and after using this portal will be represented system in the form of planned network probabilistic analysis and knowledge of statistical distributions appropriate for times of arrival and departure were using the program ready (Win QSB) and simulatio
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Let R be a 2-torision free prime ring and ?, ?? Aut(R). Furthermore, G: R×R?R is a symmetric generalized (?, ?)-Biderivation associated with a nonzero (?, ?)-Biderivation D. In this paper some certain identities are presented satisfying by the traces of G and D on an ideal of R which forces R to be commutative
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This research included the hadiths in which the urge to fast the month of the month, or the beginning of the month, and followed the inductive approach to collecting hadiths, and the critical approach in their studies, and in the weighting of the right from the faces contained in it, and one of the most important results of the research is the agreement of the words of the people On the whiteness, whether it is a little or a lot, the rush of the month will be the first three nights, where the moon white is a little, and they also agreed that the middle three are called the white days, and that the release of the rage on them for the whiteness of its nights, where the moon is complete, and the Prophet has been proven. May God bless him an
... Show MoreThe current study included interpretations of the three-dimensional seismic survey data of the Najaf-Karbala region, which was recently implemented by the Fifth Amphibious Seismic crew of the Oil Exploration Company for the period from 30/1/2016 to 13/10/2017. The total area planned to be covered by the three-dimensional survey program was about (3340 km ²). The Zubair reflector was picked, interpreted, and tracked within the region. The faults affecting this reflector were captured. The reflector's temporal, velocity, and depth maps showed the presence of structural closure features in the southeast of the region and extensions to the structural noses to the northwest of the study area. The structural maps showed a general ten
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Kidney tumors are of different types having different characteristics and also remain challenging in the field of biomedicine. It becomes very important to detect the tumor and classify it at the early stage so that appropriate treatment can be planned. Accurate estimation of kidney tumor volume is essential for clinical diagnoses and therapeutic decisions related to renal diseases. The main objective of this research is to use the Computer-Aided Diagnosis (CAD) algorithms to help the early detection of kidney tumors that addresses the challenges of accurate kidney tumor volume estimation caused by extensive variations in kidney shape, size and orientation across subjects.
In this paper, have tried to implement an automated segmentati
Background Birth defects are one of the causes of pediatric disability and mortality in all around the world. Data on birth defects from population-based studies originating from developing countries are lacking. Cleft lip (CL), cleft lip and palate (CLP), and isolated cleft palate (CP), collectively termed oral clefts, occur in all races, both sexes, and all socioeconomic groups and vary internationally (1). The main aim of this research is to establish the frequency of cleft lip and/or palate in the population of the Al-Ramadi City, and to characterize the demographic features of affected individuals and find possible risk factors. Materials and methods We conducted a survey of the Educational Maternal and Pediatric Hospital in Al-Ramadi
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Ciprofloxacin, which is a second generation of fluoroquinolone and one of the most effective and widely used drugs within fluoroquinolone. Unfamiliar adverse effects of ciprofloxacin such as bone marrow (BM) suppression, thrombocytopenia, anemia, agranulocytosis, renal failure, and others observed. Lutein, is a xanthophyll (an oxygenated carotenoid), was focused by most studies as it has a strong antioxidant activity in vitro; and also, it has been associated with reducing the risk of the age-related disorders. The current study was designed to describe the role of apoptosis through the measurement of Bcl-2 associated X protein (Bax) marker, as mechanisms of bone marrow toxicity induced by ciprofloxacin and to find whether lutei
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Writing as a female playwright in theatre gives a deeper depiction of woman’s real- self. Beth Henley has succeeded in providing a new realist vision of women’s abilities to face their inevitable tragic fates and how to conquer their despair. In Crimes of the Heart, the playwright uses certain method to present the development of the heroines’ characters through blending the tragic events with a comic frame. In fact, Henley focuses on the simple humorous activities more that the importance of the tragic event to present her vision of how to survive and face the crisis of life.
Crimes of the Heart is a play that is concerned about three sisters whose lives are headed in distinctly different directions; howe
... Show MoreThis study deals with an important area in the field of linguistics, namely person deixis.
The study aims at: (1) Describing the notion of deixis, its importance, and its place in the field
of linguistics, (2) Presenting a detailed illustration of person deixis, and (3) Conducting an
analysis of person deixis in one of Synge‟s plays Riders to The Sea according to Levinson‟s
model. The most important aim of these three is the third one (the analysis). To achieve this
aim, the researcher depends on Levinson‟s (1983) descriptive approach. According to the
descriptive approach of deixis, the category of person deixis can be defined as the encoding of
the participant roles in the speech situation. This encoding is r