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: Klebsiella pneumoniae were considered as normal flora of skin, and intestine. It can cause damage to human lungs; the danger of this bacterium is related to exposure to the hospital surroundings. materials and methods: the detection of Klebsiella pneumoniae on morphological and biochemical tests and then assured with VITEK 2 system. Resistance to antibiotics was determined by Kirby-Baeur method. And genotyping of IMP-1 in isolates was done by PCR technique, then biofilm formation was identified by Micro titer plate method. Results: The present study included a collecting of 50 specimens from different clinical specimens, (blood 40%, urine 30%, sputum 20%, wound infection 10%); 10 isolates were identified as K
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Background:Many parents of autistic child do well despite their child’s disability, they have the ability to withstand hardship and rebound from adversity, and becoming more strengthened, parents have managed to overcome the constant challenge by using their resilience to adapt well in the face of adversity.
Patients and Methods: A Descriptive analytical study was carried out from May 25, 2009 to June 20, 2010 in order to determine parents' resilience in dealing with the impact of raising a child with autism. A purposive (non-probability) sample of (100) parents raising a child with autism who was attending the out patient psychiatric clinic at Child's Central Teaching Hospital in B
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Objectives: The study aims to: (1) assess psychological distress in parents of autistic children, (2) identify the
relationship between psychological distress and parents' socio-demographic characteristics such as (age, marital
status, relationship with child, educational level and monthly income) and (3) identify the relationship between
parent's distress and some of children' socio-demographic characteristics such as (gender, age, birth order and
mean number of children).
Methodology: A descriptive–analytical study that was carried out from December 12th, 2011 to May 1st, 2012.
on a purposive (non- probability) sample of 120 parents (father and mother) who have children with autism and
send their children to the
The current study was carried out to investigate the correlation of gene expressions of ADA1 and ADA2 genes with the development of autoimmune thyroid disease (AITD) in a sample of Iraqi females. One hundred patients with AITD and 80 controls were included. Quantitative real time polymerase chain reaction (qRT–PCR) was utilized for investigation of ADA1 and ADA2 gene expression among patients and controls. The correlation of age and body mass index (BMI) with AITD occurrence comparing with controls was studied. Based on the results of this study, there is high expression level of ADA1 and ADA2 genes in patients compared with healthy controls; also, the gene expression fold (2-ΔΔCT) of ADA1 and ADA2 among AITD patients was recorded and a
... Show MoreBackground: Multiple Sclerosis disease is a demyelination process which interferes with the neuronal signal transmission, thus leading to different cognitive and physical dysfunctions like optic neuritis, motor, sensory and coordination problems. Recently many researches have been directed toward studying the relation between some genes and multiple sclerosis. Among the important genes to be studied in multiple sclerosis is the forkhead box P3 gene expression.
Objectives: The aims of the present work were to study the expression of forkhead box P3 gene by real time polymerase chain reaction, and to perform chromosomal analysis on the multiple sclerosis patients peripheral blood lymphocytes.
Patients and methods: A case-control stud
To identify the fungi associated with water hyacinth (Eichhornia crassipes [Mart.] Solms), an aquatic weed, which presents in Tigris river from Baghdad south ward. Five regions from middle and south of Iraq (Al-Noumanya, Saeid Bin-Jubier, Al-Azizia, Al-Reyfay and Al-Hay) were selected for this study. Twelve fungal species were isolated. Alternaria alternata, Acremonium sp and Cladsporium herbarum, were the most frequently species (91.66 % ,50 % and 25 %) respectively. The fungi Alternaria alternata, Acremonium sp. and Phoma eupyrena were more aggressive to water hyacinth as (91.66%,83,33%, and 75%) in pathogenicity test.
Ankylosing spondylitis (AS) represents one kind of advanced arthritis formed via inflammatory stimuli long-term in the spin‘s joints. Interleukin (IL)-29 (interferon- lambda1(IFN- λ1)), interleukin (IL)-28A (interferon- lambda 2 (IFN- λ2)) and interleukin (IL)-28B (interferon- lambda 3(IFN-λ3)) are three interferon lambda (IFN- λs) molecules that have recently been identified as new members of the IFN family. IL-28B expression in ankylosing spondylitis (AS) is not well understood. 150 male healthy controls ((HC) and 160 males with AS as patients group participated in this study. Serum level and gene polymorphism were assessed using an enzyme-linked immunosorbent assay and Sanger sequencing for IL-28B, respectively. The results showed
... Show MoreBackground: Malassezia spp. are lipophilic unipolar yeasts recognized as commensals of skin that may be pathogenic under certain conditions. Yeasts of the genus Malassezia are known to be members of the skin micro flora of human and other warm-blooded vertebrates. Psoriasis is a common cutaneous disease of unknown etiology, may be triggered by infections, including those due to fungi.
Materials and methods: Twenty three patients with psoriasis were included in this study, who attended Al-Kadhumyia teaching hospital / Dermatology department, from the 30th of October 2010 to the 1st of April 2011. Fifteen (15) were males and eight (8) were females, with the mean ag
Objectives: To study the prevalence of rs1799964 (-1031 T/C) and rs361525 (- 238 G/A) SNPs and their effect on the disease activity, severity, and cytokines production in newly diagnosed Iraqi rheumatoid arthritis patients. Patients and Methods: sixty-three patients were diagnosed by a specialist physician while attending the rheumatology unit and twenty control participated. The inflammatory markers were measured and PCR amplification and sequencing were performed to demonstrate TNF-α SNPs. Results: Regarding (-1031 C/T) SNP, the TT genotype and allele C were significantly present in the controls, and the CT genotype was distributed significantly in the patients. The TT genotype was mostly distributed in the mild-moder
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This study aimed to get a better understanding of molecular epidemiology and genetic variation in the spike glycoprotein as a key viral component involved in viral entrance into host cells and as a potential vaccination target. Three Iraqi SARS-CoV-2 strains were investigated using whole-genome sequencing, with two of them clustering into the 20A (GH) clade, and the remaining strain is clustered in 20E (GV) clade, belonging to the B.1.36.1 and B.1.177.80 lineage, respectively. Whole-genome sequencing of the viral RNA samples revealed nine sporadic nonsynonymous uncommon mutations with freq
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