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.
This article aims to establish and evaluate standards for critical equipment and materials in highway projects in Iraq. Delphi technique has been used to analyze, explore, and discover the main criteria and sub-criteria that affect equipment and materials in highway construction projects in Iraq. To determine the correct response to the criteria presented in this study, a program (IBM, SPSS/V25) was used to assess the main criteria and sub-criteria using the mean score (MS) and standard deviation (SD) technique, as well as to check reliability using Cronbach's alpha factor (α). The experts' qualifications and the extent to which the person is ready to commit are both important factors in panel selection. The design of a
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based search on two variables two main (Administrative empowerment ) and (technical innovation) target detection relationship and influence between the five dimensions (the delegation of authority , personnel training , effective communication, work teams , motivating employees) and
(technical innovation) conducted research in General Company for electrical Industries , and through the sample included the views of managers in the various administrative levels poll .
And adopted a researcher at a major tool for data collection is questionnaire designed to find, as was the contents of the questionnaire analysis according to the Statistical Information System ( Spss), The (55) to identi
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The current research aims to test the relationship of the impact of sustainable leadership as an independent variable in organizational happiness as a dependent variable, in the departments and divisions of the Tourism Authority, to come up with a set of recommendations that contribute to raising the level of organizational happiness in the authority. And based on the importance of the research topic in the General Authority, and the prominent role that this body plays in society, the researcher adopted the descriptive and analytical approach in carrying out this research, by collecting data from the departments and divisions staff of (160) respondents in an exclusively comprehensive
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This research aims to clarify the concept of doctrinal rules and adjust its basic terminologies. It further aims to lay down a map for the method of rooting this science by mentioning its rooted sources, in addition to drawing a miniature picture of its history, origin, formation and development. The paper ends with practical models to highlight its importance in rooting the science of nodal rules and facilitating the mentioning of its scattered discussions in a short and comprehensive phrase. The study further illustrates the pioneering role of doctrinal rules science in managing the doctrinal disputes, combining multiple sayings, and in bringing together opposing opinions. The study follows the inductive, descriptive and analytical app
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This study aims to evaluate the concentration of the heavy metals (Co, Cd, Cr, Cu, Ni, Pb, and Zn) and their ecological risk in soils adjacent to the power generators of Ramadi city, Iraq. The soil samples were collected from a depth of 20cm. The obtained results showed that the mean concentrations of heavy metals (HMs) are ranked as in the following order: Cr (360.90mg/kg) > Ni (283.65mg/kg) > Zn (190.96mg/kg) > Pb (130.75 mg/kg) > Cu (36.54 mg/kg) > Co (16.62 mg/kg) > Cd (2.55 mg/kg). The mean values of HMs concentration exceed the international guidelines. The result of correlation matrix analysis at P £ 0.05 showed significant correlations between the concentrations of HMs. These correlatio
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Purpose: Studying the activity of acid phosphatase, which is the marker of lysosomal activity in the mammary glands of rats at different stages of the physiological maturation [virgih, pregnancy, lactation and Post lactation] Methods: Forty, female, albino rats were used in this study. They were divided into four groups according to their physiological states [virgin, pregnancy, lactation and post lactation]. The mammary glands, after suitable fixation and sectioning, were employed for routine haematoxylin and eosin stain and for acid phosphatase demonstration Results: Acid phosphatase activity was weakly diffuse in the secretory tubules of virgin rats, the diffuse and granular activity of this enzyme was increased during pregnancy in the s
... Show MoreThe aim of this investigation is to study the rote of alkaline phosphatase in mammogenesis and lactogenesis. A total of fortyfemalealbino rats were used and divided according to their physiological states into four groups [ten rats each]. From each deeply ether anesthetized rat, the mammary gland was removed, fixed, quenched in liquid nitrogen and sectioned using SLEE cryostat. The sections were employed for routine haematoxylin and eosin stain and alkaline phosphatase demonstration using the calcium–cobalt method. The obvious finding in the mammary glands of pregnant rat was the presence of thick black rings indicating strong alkaline phosphatase activityaround the basal part of the secretory epithelium of the alveoli. In lactating mamma
... Show MoreAbstract Objective: Comparison of femtosecond small incision lenticule extraction (FS-SMILE) versus Femtosecond laser Insitu keratomileusis (FS-LASIK) regarding dry eye disease (DED) and corneal sensitivity (CS) after those refractive surgeries. Methods: A comparative prospective study conducted for a period of 2 years; from March 2017 until February, 2019. Enrolled patients were diagnosed with myopia. Fifty patients (100 eyes) were scheduled for bilateral FS-SMILE and the other 50 patients (100 eyes) had been scheduled for bilateral FS-LASIK. Both groups were followed for six months after surgery. The age, gender, and preoperative refraction for both groups were matched. Complete evaluation of dry eye disease had been
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The 1500m race event is part of the athletics system, and the continuous competition to break records and achieve the highest levels of achievement in athletics events, especially the 1500m race event, is one of the topics that occupies the minds of many people interested in achieving digital development for this event, given the distance of the race and the time it takes to complete it. Because it is unique from other events, it has characteristics that distinguish it from other events, despite it being a middle-distance event, which shares with them that its speed is measured by the step, which consists of the length of the step and its frequency. Increasing any of these two factors while keeping one of them constant or increasing
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Is hardly day expire without hearing the news either Abuse Managementthe accounting standards or the existence of serious misstatements by someauditors.Which caused the demanding of many companies in the recent republication of the financial statements and the re-announcement of its financialresults. Such acts raise questioning about the role that should be played by theauditors, prompting agencies responsible for setting auditing standards to takeTo throw increasingly responsibility on the auditors in order to interest risksfraud The Risks of Fraud in their review of the financial statements.also The Public Company Accounting Oversight Board in the U.S.called about the need of owning the Certified Public Accountants those whoaudits for
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