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 present study included a collecting of 165 specimens form different sources,
93 isolates were identified as Escherichia coli depending on morphological and
biochemical tests in addition to automated systems such as VITEK 2 and api 20E.
All isolates under study developed high resistance toward cefotaxime, ceftazidime,
ceftriaxone, and ciprofloxacin estimated by minimum inhibitory concentration. Stool
and wound specimens characterized by harbouring the highest resistant isolates in a
percentage reached 100% against antibiotics under study. Insignificant differences
were found between isolates collected from males and females. Upon using disk
displacement method to detect extended spectrum beta lactamases (ESBL),
Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing
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Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (
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Interleukin-1 β (IL-1 β) is considered to be one of the most important mediators in the pathogenesis of inflammatory diseases, particularly in neurodegenerative diseases such as multiple sclerosis (MS). MS is a chronic inflammatory disease characterized with demyelination in central nervous system (CNS). There was believe that single nucleotide polymorphisms (SNPs) in IL-1β gene can alter the structure and function of the IL-1β and consequently may have play role in MS disease. In this this study the IL-1β gene polymorphism (rs16944, rs1143634) and their association with MS in Iraqi patients were investigated. Two SNPs including IL-1β-511 (rs16944) in promoter and IL-1B+3962 (rs1143634) in encoding region, were studied using Polyme
... Show MoreIntroduction and Aim: Beta-thalassemia is a serious inherited genetic disorder and an increasing health burden globally. Beta -thalassemia is caused by genetic globin abnormalities within the hemoglobin beta (HBB) gene. This study aimed to characterize the HBB gene mutations in beta -thalassemia among southern Iraqi patients. Materials and Methods: The study included 30 beta -thalassemia patients referred to the Thi-Qar Center for Genetic Diseases, Iraq and 15 control samples from a random group of apparently healthy individuals. Genomic DNA was isolated from blood sample collected from each individual. The DNA was amplified for specific regions of the HBB gene and the amplified products sequenced. The sequences generated were analysed for
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Abortion is categorized as the termination of conception caused by the failure or removal of the embryo from the uterus before the conclusion of pregnancy. Microorganisms and genetic factors are two of the many factors associated with abortion. Cytomegalovirus is a widespread congenital virus infection pathogen that affects a wide variety of people. The prothrombin gene is one of the essential causes that trigger blood clotting and the function of abortion women, therefore the aim of the study is to detect and associate Cytomegalovirus and prothrombin gene mutation (Gene ID: 14061 in NCBI) with abortion through genetic and immunological methods. Five ml of whole blood was collected from an intravenous puncture and divided into two tubes,
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Background: Several biological factors such as bacterial infections and immunological status are implicated in predisposing individuals to bladder cancer. Bacterial infection of urinary tract has been related to increase the risk of bladder cancer.
Patients and Methods: Resected tumors of a total of 73 patients were obtained under sterile surgical conditions. Biopsy processing samples and culture procedures of biopsy samples were mentioned in the text.
Results: Bacterial growth was observed in 48 biopsy tissues of those patients represent (65.8%) while, 25(34.2%) yielded no growth (negative results). It is obvious that E. coli is the most predominant organisms followed by K. pneumoniae and Ps. Aer
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This study reflected on the relationship between contactin associated protein-like
2 gene (CNTNAP2) and autism spectrum disorders. The study includes forty autistic
patients and forty non autistic children as control groups (twenty unaffected sibling
and twenty unrelated children). DNA was extracted from Blood samples for
molecular detection of CNTNAP2 mutations associated with ASDs by using
Polymerase Chain Reaction (PCR) technique and sequencing analysis. PCR reaction
was performed to amplify exon 20 of CNTNAP2 gene. The PCR results revealed that
identical bands related to exon 20 of CNTNAP2 gene were present in all samples.
Therefore, five samples (four from autistic patients and one from control sibling)
we
Background: Non-small cell lung cancer (NSCLC) is caused of 85% of all lung cancers. Among the most important factors for lung tumor growth and proliferation are the tyrosine kinase receptors that coded by the epidermal growth factor recep-tor (EGFR) gene. Activation of EGFR ultimately leads to developing of lung cancer. The present study was undertaken with an objective to detect EGFR mutations in bronchial wash from Iraqi patients with NSCLC before treatment. Methods: DNA was extracted from bronchial wash samples collected from 50 patients with NSCLC by using a Qiamp DNA Mini Kit (Qiagen, Hilden, Germany). Then, EGFR mutations were determined by using real-time RCR combined with two technologies, Amplification Refractory Mutation System (
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