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.
Background: Periodontal disease is a chronic bacterial infection that affects the gingiva and bone supporting the teeth. Smoking, which is an important risk factor for periodontitis, induce oxidative stress in the body and cause an imbalance between reactive oxygen species (ROS) and antioxidants, such as superoxide dismutase (SOD). This study aimed to evaluate the influence of smoking on periodontal health status by estimating the levels of salivary SOD level in non-smokers (controls) and light and heavy smokers and to test the correlation between the SOD enzyme level and the clinical periodontal parameters in each group. Materials and Methods: The study sample consisted of 75 male, with age ranged from 35 to 50 years. Clinically, the perio
... Show MoreThis research was aimed to study the exposure of Razzazah Lake to major hydrological changes in recent years as a result of natural climatic changes and drought, high evaporation in lake due to stop discharge from Habbaniyah Lake by Al- majera channel. During 2019, we collected surface water samples at three locations, and three samples from groundwater, in addition one samples from each location Imam Ali Drop and Sewage water of Karbala. The Results show that the heavy isotopes in lake and groundwater well are enriched during the warm period, and depleted during the cold period. Chemically, The dominant cations and anions in Al-Razzaza lake water are mainly of in Order Ca > Na > Mg and Cl>SO4 and the water
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In this contribution, new derivatives of bicyclic fused rings with bridgehead nitrogen of 3-substituted imidazo/pyrimidine derivatives A1-A3 were synthesized by reacting 2-aminobenzothiazol, acetyl acetone, and different substituted aldehydes in a one-pot reaction. These compounds A1-A3 were then condensed with 4-bromobenzaldehyde and 4-(N,N-dimethylamino)benzaldehyde to form new chalcone derivatives A4-A9. Ring closure of these compounds A4-A9 with urea and malononitrile afforded new oxopyrimidine derivatives A10-A15 and cyanopyridine derivatives A16-A21, respectively. These compounds were characterized by FT-IR, 1H NMR, and 13C NMR spectroscopy. The second part of this work included some of the i
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Experimental programs based test results has been used as a means to find out the response of individual elements of structure. In the present study involves investigated behavior of five reinforced concrete deep beams of dimension (length 1200 x height 300 x width150mm) under two points concentrated load with shear span to depth ratio of (1.52), four of these beams with hallow core and
retrofit with carbon fiber reinforced polymer CFRP (with single or double or sides Strips). Two shapes of hallow are investigated (circle and square section) to evaluated the response of beams in case experimental behavior. Test on simply supported beam was performed in the laboratory & loaddeflection, strain of concrete data and crack pattern of
This study was conducted to determine the effect of vitamin A ( 10 mg/kg ) on avearage testis weight and sexual glands ( Prostate and Seminal Vesicle ) for albino male mice treated with Hexavalent chromium ( 1000 ppm ) .The current study 40 mice were divided into fife groups : 1st group treated with distilled water and considered an control group (C) / the 2nd group treated with sesame oil ( T1) / 3rd group was givin hexavalent chromium ( 1000 ppm ) (T2) / 4th group treated with vitamin A ( 10 mg / kg ) and exposed to hexavalent chromium ( 1000 ppm ) (T3) / 5th group treated with vitamin A ( 10 mg kg ) (T4) . The expermint lasted 35 day . the results showed a significant ( P ? 0.05 ) decrease in avearage testis weight and sexual glan
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In the present work, several new cyclic imides (succinimides) linked to benzothiazole or thiazole moieties through phenyl azo group were synthesized. Synthesis of the new imides was performed via multistep synthesis. The first step involved reaction of equimolar amounts of succinic anhydride and p-toluidine producing N-(4-tolyl) succinamic acid (1) which was dehydrated in the second step via treatment with acetic anhydride and anhydrous sodium acetate affording N-(4-tolyl)succinimide (2).
In the third step, substituted-2-aminobenzothiazoles were introduced in diazotization reaction with nitrous acid producing the corresponding diazonium salts and these inturn were introduced directly in coupling reaction with compound (2) affording th
oupling reaction of 4-aminoantipyrene with the (L-Histidine) gave the new bidentate azo ligand.The prepared ligand was identified by FT.IR, UV-Vis and HNMR spectroscopics technique. Treatment of the prepared ligand was done with the following metal ions (Ag+ ,Pb+2 ,Fe+3 ,Cr+3 ) in aqueous ethanol with a1:1 and 1:2 M:L ratio . The prepared complexes were characterized by using FT. IR and UV- VIS spectroscopic method as well as conductivity measurements. Their structures were suggested according to the results obtained.
Some metal ions (Mn+2, Fe+2, Co+2,Ni+2,Cu+2 and Cd+2) complexes of N-acetyl Tryptophan (AcetrpH) and α-Picoline (α-Pic) have been synthesized and characterized on the basis of their FTIR,UV-Vis spectroscopy , conductivety measurements , magnetic susceptibility. From the results obtained, the following general formula has suggested for the prepared complexes. [M+2(Acetrp)2(α-Pic)2]. XH2O Where M = Mn+2, Fe+2, Co+2,Ni+2,Cu+2 and Cd+2 X = 0 , 0 , &nb
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