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.
Coupling reaction of 2-amino benzoic acid with 8-hydroxy quinoline gave bidentate azo ligand. The prepared ligand has been identified by Microelemental Analysis,1HNMR,FT-IR and UV-Vis spectroscopic techniques. Treatment of the prepared ligand with the following metal ions (ZnII,CdII and HgII) in aqueous ethanol with a 1:2 M:L ratio and at optimum pH, yielded a series of neutral complexes of the general formula [M(L)2]. The prepared complexes have been characterized by using flame atomic absorption, (C.H.N) Analysis, FT-IR and UV-Vis spectroscopic methods as well as conductivity measurements. The nature of the complexes formed were studied following the mole ratio and continuous variation methods, Beer's law obeyed over a concentration ra
... Show MoreThis paper considers a new Double Integral transform called Double Sumudu-Elzaki transform DSET. The combining of the DSET with a semi-analytical method, namely the variational iteration method DSETVIM, to arrive numerical solution of nonlinear PDEs of Fractional Order derivatives. The proposed dual method property decreases the number of calculations required, so combining these two methods leads to calculating the solution's speed. The suggested technique is tested on four problems. The results demonstrated that solving these types of equations using the DSETVIM was more advantageous and efficient
Some metal ions (Mn
+2
, Fe
+2
,Co
+2
,Ni
+2
,Cu
+2
, Cd
+2
and Hg
+2
) complexes of N-acetyl
Tryptophan( AcetrpH) and (2, 2′-bipyridine) (2, 2′-Bipy)have been synthesized and then
characterized on the basis of their FT-IR, UV-Vis spectroscopy, magneticsuscptibity
conductivity measurements and atomic absorption;from the results obtained and the propsed
molecular structure for these complexes as octahedral geometry,the following general formula
has been given for the prepared complexes.
[M
+n
(Acetrp)2(2, 2′-Bipy)].
Where M= Mn
+2
, Fe
+2
,Co
+2
,Ni
+2
,Cu
+2
, Cd
+2
,Hg
+2
(Acetrp)
-=Ligand ion(N-acetyl
In this paper, Pentacene based-organic field effect transistors (OFETs) by using different layers (monolayer, bilayer and trilayer) for three different gate insulators (ZrO2, PVA and CYEPL) were studied its current–voltage (I-V) characteristics by using the gradual-channel approximation model. The device exhibits a typical output curve of a field-effect transistor (FET). Source-drain voltage (Vds) was also investigated to study the effects of gate dielectric on electrical performance for OFET. The effect of capacitancesemiconductor in performance OFETs was considered. The values of current and transconductance which calculated using MATLAB simulation. It exhibited a value of current increase with increasing source-drain voltage.
Hydrate dissociation equilibrium conditions for carbon dioxide + methane with water, nitrogen + methane with water and carbon dioxide + nitrogen with water were measured using cryogenic sapphire cell. Measurements were performed in the temperature range of 275.75 K–293.95 K and for pressures ranging from 5 MPa to 25 MPa. The resulting data indicate that as the carbon dioxide concentration is increased in the gas mixture, the gas hydrate equilibrium temperature increases. In contrast, by increasing the nitrogen concentration in the gas mixtures containing methane or carbon dioxide decreased the gas hydrate equilibrium temperatures. Furthermore, the cage occupancies for the carbon dioxide + methane system were evaluated using the Van der Wa
... Show MoreHistone deacetylase inhibitors with zinc binding groups often exhibit drawbacks like non-selectivity or toxic effects. Thus, there are continuous efforts to modify the currently available inhibitors or to discover new derivatives to overcome these problems. One approach is to synthesize new compounds with novel zinc binding groups. The present study describes the utilization of acyl thiourea functionality, known to possess the ability to complex with metals, to be a novel zinc binding group incorporated into the designed histone deacetylase inhibitors. N-adipoyl monoanilide thiourea (4) and N-pimeloyl monoanilide thiourea (5) have been synthesized and characterized successfully. They showed inhibition of growth of human colon adenoc
... Show MoreThe population of Ephemeroptera was studied in three selected stations of Rawanduz River (Gali Ali Beg water fall, Rawanduz River and after the junction of these two waters) during the three seasons of spring, summer and autumn in 2016. In addition,sixteen physicochemical parameters (pH, EC, turbidity, DO, BOD5, NO3, TDN, TDP, HCO3-, Hardness, Ca2+, Mg2+, Na+, K+, Cl-, SO42-, Na% and SAR) of water in these stations were estimated and used to calculate the Canadian Council of Ministers of the Environment Water Quality Index (CCME WQI). Eleven species of aquatic insects were identified,which belong to four families of th
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