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 results of the current study showed that the thyroid gland in an adult domestic cat (Felis catus) is located in the neck area on both sides of the trachea at rings 1–5. The gland consists of two lobes (right and left), and it is surrounded by a capsule of connective tissue consisting of two outer and inner layers, and a layer of fatty tissue overlaps with the outer layer of the capsule. In addition, the results of this study found that the histological structure of the thyroid gland is composed of several follicles that appear in different sizes and shapes. The follicles are lined with simple cuboidal epithelial tissue and sometimes appear lined with high and low simple cuboidal epithelial tissue. The gland is histological
... Show MoreA simple and rapid spectrophotometric method for the determination of sulphite SO3-2 is described. The method is based on the rapid reduction of known amount of chromate CrO4-2 in the presence of sulphite in acidic medium of 2N H2SO4. The amount of excess of chromate was measured after it reactions with 1,5-diphenylcarbazide which finally gives a pink-violet, water soluble and stable complex, which exhibit a maximum absorption at 542 nm. Beer's law was obeyed in the concentration range from 0.004-6.0 µg of sulphite in a final volume of 25 ml with a molar absorbtivity of 4.64×104 l.mol-1.cm-1, Sandal's sensitivity index of 0.001724 ?g .cm-2 and relative standard deviation of ±0.55 - ±0.83 depending on the concentration level. The present
... Show MoreIn this paper we report the use of supersonic jet laser induced fluorescence (LIF) spectroscopy to facilitate the study of the spectra of some organometallic sandwich compounds particularly the metallocenes. The charge-transfer processes within these compounds, especially ligand to metal charge transfer within decamethylrhenocene ( - C5 Me5)2 Re were of particular interest. The spectrum shows a high degree of structures, indicating that there are several levels populated and these molecules are able to undergo many possible transitions
The dimensions of bubbles were measured in a stirrer tank electrochemical reactor, where the analysis of the bubble size distribution has a substantial impact on the flow dynamics. The high-speed camera and image processing methods were used to obtain a reliable photo. The influence of varied air flow rates (0.3; 0.5; 1 l/min) on BSD was thoroughly investigated. Two types of distributors (cubic and circular) were examined, and the impact of various airflow rates on BSD was investigated in detail. The results showed that the bubbles for the two distributors were between 0.5 and 4.5 mm. For both distributors at each airflow, the Sauter mean diameter for the bubbles was calculated. According to the results, as the flow rate raised, the bubb
... Show MoreIn this study, the investigation of flavorings used in 567 model of local food products and imported in our local markets through information contents cards media shoddy standard Iraqi has been found that foods that appeal to children of sugar confectionery and Crapt and other barely Atkhalo of flavorings used that lead tohealth risks
The magazine covers the subjects of (simplicity and complexity in the visual layout of the designs of magazine coverings of children) Chapter I The problem and importance of the goal and limits of research and addition to Terminology. In the second chapter the theoretical framework in which the first topic the role of simplicity and complexity in the design and the second section Visual design and design relations and the third research design in magazine covers and the third chapter includes the methodology of research and analysis and the results and conclusions and sources and the most important result of the research is (simplicity and complexity of design, Continuity and vitality and attract the attention of the receiver through the
... Show Morezine level in serum was mesured from patients suffering ftom cancer and healthy indiciduals hindred from each individuals were classified into three according to thier age the groups were
The formal integration of the interior spaces in general and the commercial spaces of the watch shops in the large commercial centers in particular is the goal that the designers aim to reach in order for the interior space to become successful in terms of the design idea and its characteristics. Implementation mechanism. One of the reasons for achieving formal integration in the interior spaces of watch shops is the requirements of the design that must be available in these spaces to reach a state of formal integration between the interior and the exterior so that the space becomes fully integrated in all respects. Because of the aforementioned reasons for dealing with the research, through four chapters: The first chapter included the
... Show MoreTwo simple, sensitive, accurate and economic methods A and B have been developed for the quantitative estimation of vancomycin hydrochlorid (VHC) and its formulations using another two drug compounds as a coupling reagents.The proposed methods are based on a coupling reaction between VHC and diazotized procain (method A) or diazotized sulphacetamide sodium (method B) in alkaline medium to form intense yellow, water-soluble dyes that are very stable and have a maximum absorption at 447 and 439 nm for methods A and B respectively. Regression analysis of Beer’s law plots showed good correlation in the concentration ranges 1-28 and 1-45 μg ml-1 for methods A and B, respectively with a molar absorbtivity of 4.605×104 L mol-1cm-1 and 4.516
... Show MoreThis paper concerns with deriving and estimating the reliability of the multicomponent system in stress-strength model R(s,k), when the stress and strength are identical independent distribution (iid), follows two parameters Exponentiated Pareto Distribution(EPD) with the unknown shape and known scale parameters. Shrinkage estimation method including Maximum likelihood estimator (MLE), has been considered. Comparisons among the proposed estimators were made depending on simulation based on mean squared error (MSE) criteria.