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 Political loyalties of the individual considered as the most important democracies through direct psychological identification in a particular party. The political parties regarded as the important elements and the foundations of the democratic system. They have effective interaction between the voters and the government institutions. The aim of the current research is to identify the quality of Islamic, the Civilian parties, and the most preferred for students. also, the research attempt to identify the level of identification party that the university students have, and the difference of identification party according to the gender (male, female), the difference of of social class (upper, middle, poor). The sample
... Show MoreABSTRACT Background: Dental anomalies of teeth are major issue that contributes to dental problems encountered in general practice. The aim of this study is to measure the prevalence of dental anomalies and the associated etiological factors among 15 years old students in Basrah city –Iraq. Materials and methods: The total sample composed of 1000 students (435 males and 565 females) from urban area selected randomly from different high schools in the city. Diagnosis of dental anomalies were recorded by present or absent, diagnosis and recording of enamel defects were done according to the criteria of WHO (1997). Results: The prevalence of hypodontia was 4.6%, Females have higher prevalence than males (5.8% females and 3.0% males), ta
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Objective: Detection the level of YKL-40 biochemical marker and vitamin D level in sera of Iraqi uterine cancer
females' patients.
Methodology: This study included 90 female volunteers, 30 of them were healthy volunteers who were
considered as a control group, while sixty serum samples were collected from women patients suffering from
uterine tumors (30 malignant and 30 fibroid benign tumors), benign cases were considered as a disease
control group for malignant tumors. The average age of those females was 30-75 years, which matched the
control group. All the samples were collected from Azady hospital in Kirkuk and the gynecologic department at
Medical City in Baghdad during October /2012 to May /2013. All the serum
Pseudomonas aeruginosa is an opportunistic pathogen responsible for serious infections. At least three different exopolysaccharides, alginate, polysaccharide synthesis locus (Psl), and pellicle exopolysaccharide (Pel) make up the biofilm matrix in P. aeruginosa . The effect of temperature on the biofilm formation and gene expression was examined by microtiter plate and real-time quantitative polymerase chain reaction (qRT-PCR). To be able to determine the effect of temperature on biofilm formation and gene expression of P. aeruginosa, 303 clinical and environmental samples were collected. Pseudomonas aeruginosa was isolated from 61 (20.1%) and 48 (15.8%) of the clinical and e
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Lung cancer, similar to other cancer types, results from genetic changes. However, it is considered as more threatening due to the spread of the smoking habit, a major risk factor of the disease. Scientists have been collecting and analyzing the biological data for a long time, in attempts to find methods to predict cancer before it occurs. Analysis of these data requires the use of artificial intelligence algorithms and neural network approaches. In this paper, one of the deep neural networks was used, that is the enhancer Deep Belief Network (DBN), which is constructed from two Restricted Boltzmann Machines (RBM). The visible nodes for the first RBM are 13 nodes and 8 nodes in each hidden layer for the two RBMs. The enhancer DBN was tr
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Acute myeloid leukemia represents the most prevalent type of acute leukemia in adults. Mutations in the tumor protein (TP53) gene have been found in more than half of all human cancers. This study was done to investigate the relationship between TP53 gene expression and the appearance and progression of acute myeloid leukemia in Iraq. This study included 100 subjects, divided into 60 patients suffering from pre-diagnostic acute myeloid leukemia and 40 healthy individuals. The difference in TP53 gene expression between acute myeloid leukemia patients and healthy individuals has been investigated, and the gene expression of TP53 has been measured after extraction of total RNA at concentrations (15–83 n
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To determine the relationship between chronic hepatitis B virus and autoimmune celiac disease, seventy five patients with chronic hepatitis B virus of ages (8-70) years have been investigated and compared to 50 healthy individuals. All the studied groups were carried out to measure anti-tissue transglutaminase antibodies IgA and IgG by ELISA test and anti-endomysial antibodies IgA and IgG by IIFT. There was a significant elevation in the concentration of anti-tissue transglutaminase antibodies IgA and IgG compared to control groups (P< 0.01) .The prevalence of antiTtG IgA and IgG was 14.67% and 12.0% respectively.There was a highly significant difference (P<0.01) when compared between studied groups .While the prevalence of anti-en
... Show MoreMedulloblastomas and ependymomas are the most common malignant brain tumors in children. However genetic abnormalities associated with their development and prognosis remain unclear. Recently two gene fusions, KIAA1549–BRAF and SRGAP3–RAF1 have been detected in a number of brain tumours. We report here our development and validation of RT-RQPCR assays to detect various isoforms of these two fusion genes in formalin fixed paraffin embedded (FFPE) tissues of medulloblastoma and ependymoma. We examined these fusion genes in 44 paediatric brain tumours, 33 medulloblastomas and 11 ependymomas. We detected both fusion transcripts in 8/33, 5/33 SRGAP3 ex10/RAF1 ex10, and 3/33 KIAA1549 ex16/BRAF ex9, meduloblastomas but none in the 11 ep
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Gallstone disease is one of the most common complications among diabetic patients especially type 2 DM. Till now, there is no specific and certain factor that explain the incidence of gallstones among type 2 diabetic patients and many risk factors are taken collectively to estimate its intensity and severity compared to non diabetic counter parts. This clinical study was designed to evaluate and report the incidence and severity of gallstones among type 2 diabetics and non diabetics regarding certain factors. 20 diabetic females and 20 diabetic males were collected as patients′ group and have had gallstones while 20 females and 20 males who have had gallstones without diabetes mellitus type 2 were collected as controls′ group
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This research includes the use of an artificial intelligence algorithm, which is one of the algorithms of biological systems which is the algorithm of genetic regulatory networks (GRNs), which is a dynamic system for a group of variables representing space within time. To construct this biological system, we use (ODEs) and to analyze the stationarity of the model we use Euler's method. And through the factors that affect the process of gene expression in terms of inhibition and activation of the transcription process on DNA, we will use TF transcription factors. The current research aims to use the latest methods of the artificial intelligence algorithm. To apply Gene Regulation Networks (GRNs), we used a progr
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