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Identification of genetic mutations associated with autism in GABRB3 gene in Iraqi autistic patients
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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.

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Publication Date
Tue Feb 28 2023
Journal Name
Iraqi Journal Of Science
Assessment of miR-146a Gene Polymorphisms in Patients with Systemic Lupus Erythematosus
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      Systemic lupus erythematosus (SLE) is a multifactorial chronic autoimmune disease, with a wide spectrum of effect. The main feature of the disease is the production of a wide variety of autoantibodies as a result of immune tolerance loss. The work aims to evaluate the miRNA-146a gene polymorphism potential association with disease activity and chronicity changes in SLE patients. The study included 100 SLE patients and 50 matched controls. The systemic lupus erythematosus disease activity index (SLEDAI) was assessed. The single nucleotide polymorphism (SNP) of miR-146a gene (rs2910164) polymorphism was assayed by polymerase chain reaction (PCR) and sequencing technique in patients and control. 100 SLE pati

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Publication Date
Tue Feb 28 2023
Journal Name
Tropical Journal Of Natural Product Research
Genetic Association of Angiotensin-converting enzyme 2 ACE-2 (rs2285666) Polymorphism with the Susceptibility of COVID-19 Disease in Iraqi Patients
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Significant risks to human health are posed by the 2019 coronavirus illness (COVID-19). SARS coronavirus type 2 receptor, also known as the major enzyme in the renin-angiotensin system (RAS), angiotensin-converting enzyme 2 (ACE-2), connects COVID-19 and RAS. This study was conducted with the intention of determining whether or not RAS gene polymorphisms and ACE-2 (G8790A) play a part in the process of predicting susceptibility to infection with COVID-19. In this study 127 participants, 67 of whom were deemed by a physician to be in a severe state of illness, and 60 of whom were categorized as "healthy controls" .The genetic study included an extraction of genomic DNA from blood samples of each covid 19 patients and healthy control

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Publication Date
Sun Sep 15 2024
Journal Name
Iraqi Journal Of Pharmaceutical Sciences( P-issn 1683 - 3597 E-issn 2521 - 3512)
Olanzapine-induced Metabolic Syndrome and its Association with -759C>T Polymorphism of the HTR2C Gene in Iraqi Schizophrenic Patients
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The hazardous metabolic effects of treating schizophrenia patients with olanzapine comprise serotonin 2C receptor (5-HT2C) antagonists. Metabolic side effects of antipsychotic drugs, including lipid abnormalities, disturbed glucose metabolism, and weight gain, can have a major impact on treating psychiatric patients. The intent of this study was to investigate whether there is an associated link between the genetic polymorphism at -759C>T in the promoter region of the 5-hydroxytryptamine 2C receptor (HTR2C) gene and the metabolic syndrome driven by olanzapine in schizophrenia patients. A cross-sectional study that involved fifty hospitalized patients with schizophrenia. The patients were split into two groups (metabolic and non-metab

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Publication Date
Mon Apr 03 2023
Journal Name
Journal Of Educational And Psychological Researches
The Effectiveness of Applying Social Stories in Developing Social Interaction Skills among Children with Autism Spectrum Disorder
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Abstract

The current research aims to identify the effectiveness of social stories in increasing social interaction among children with an autism spectrum disorder. The researcher used the single-subject design methodology (Single Subject Designs, SSD) with

 (A-B) design to answer the research questions. The study sample consisted of (3) children with autism spectrum disorder enrolled in a transit daycare center in the Asir region, Saudi Arabia. The results of the study showed that there is a positive functional relationship between social stories and play to increase social interaction among children with autism spectrum disorder, which contributed to the acquisition and generalization of this behav

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Publication Date
Thu Jun 30 2016
Journal Name
Al-kindy College Medical Journal
Risk factors for autism in Baghdad city
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Background: Autism is a complex developmental disability that typically appears during the first three years of life. Autism affects the normal development of the brain in the areas of social interaction and communication skills.Objectives: To identify risk factors for Autism among a sample of autistic children in Baghdad city. Type of the study: this is a case – control, study. Methods: This study was conducted during the period of data collection extended from first of November 2010 until the first of April 2011,The total number of children involved was 100children with diagnosis of autism. Handred children who are free from autism were taken as the control sample. Results: there was a significant association between paternal age and

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Publication Date
Wed Mar 15 2023
Journal Name
Journal Of Survey In Fisheries Sciences
The Correlation of DAZ1 Gene Methylation with Azoospermia in Iraqi Infertile Men
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After about twelve months or maybe more, some people can’t achieve pregnancy. This might be a sign of infertility as a reproductive system disease. The following study was carried out to investigate the DAZ 1 gene methylation level and its association with azoospermia in Iraqi patients. One hundred and fifty human blood samples were collected from from different regions in Baghdad governorate, including (private medicals Labs and the high institute for infertility diagnosis assisted reproductive techniques and Kamal Al- Samara'ay IVF Hospital) from both fertile and infertile men. The control group consists of 50 samples ranging from 22 to 51 years old, while the patient (infertile group) consists of 100 samples ranging between 25 and 51 y

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Publication Date
Sat May 01 2021
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Gene Expression of MicroRNA-370 in Some Iraqi Women with Breast Cancer
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Breast cancer becomes a major threat to female health, many reports refer to a high incidence of breast cancer in Iraq; especially, in the last years. The micro RNA-370 molecules have not been reported in Iraqi cancer patients. Our objective in this study was to identify the expression of micro RNA-370 molecules in breast cancer patients as an early detection biomarker of breast tumors and detect its relation with clinicopathological characters of breast cancer patients. Fifty fresh tissue samples were collected from benign and malignant breast patients in addition to ten normal tissue samples collected as a control group, the age ranged was(19 - 77) years for patients. The miR-370 gene expression level was measured by the quantitative r

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Publication Date
Wed Jun 27 2018
Journal Name
Iraqi Journal Of Science
Single Nucleotide Polymorphism of IL1B Gene (rs16944) in a Sample of Rheumatoid Arthritis Iraqi Patients
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Cytokines play a prominent role in etiology and pathogenesis of rheumatoid arthritis (RA), and one of these cytokines is interleukin-1β (IL-1β). The association between IL1B gene single nucleotide polymorphism (SNP: rs16944) and rheumatoid arthritis (RA) in a sample of Iraqi patients was investigated. Fifty-one RA patients (21 males and 30 females) were enrolled and their age range was 20 - 63 years (44.9 ± 1.5 years). In addition to patients, 45 apparently healthy control subjects were also enrolled in the study. They matched patients for ethnicity (Iraqis), gender (14 males and 31 females) and age (41.3 ± 1.3 years). Analysis of Hardy-Weinberg equilibrium (HWE) in RA patients and controls revealed that the IL1B ge

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Publication Date
Sun Jan 30 2022
Journal Name
Iraqi Journal Of Science
Single Nucleotide Polymorphism of Padi4 Gene )Rs11203367( in A Sample of Rheumatoid Arthritis Iraqi Patients
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     Rheumatoid arthritis (RA) is an inflamed chronic autoimmune disease in which genetics and environment are the most common causative factors. Peptidyl arginine deiminase type IV (PADI4) is an enzyme responsible for the posttranslational conversion of arginine residues into citrulline. Real-time polymerase chain reaction (RT-PCR) is a specific technique was used to determine gene polymorphism. One hundred twenty three patients molecularly confirmed with RA and sixty healthy control subjects were recruited. By applying the logistic regression analysis, some alleles and genotypes were associated with susceptibility to RA. Under the allelic model, C allele frequency was significantly increased in RA patients compared

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Publication Date
Sun Jun 03 2018
Journal Name
Baghdad Science Journal
Gene Expression and Polymorphism of Interleukin-4 in a Sample of Iraqi Rheumatoid Arthritis Patients
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It was aimed to understand the interleukin-4 (IL-4) role in etio-pathogenesis of rheumatoid arthritis (RA). Two approaches were adopted. In the first one, a quantitative expression of IL4 gene was assessed by reverse transcription-quantitative polymerase chain reaction (RT-qPCR), and such findings were correlated with some demographic, clinical and laboratory parameters, which included gender, duration of disease, disease activity score (DAS-28), rheumatoid factors (RFs), C-reactive protein (CRP) and anti-cyclic citrullinated peptide (ACCP) antibodies. In the second approach, a single nucleotide polymorphism (SNP) of IL4 gene (rs2243250) was inspected by DNA sequencing using specific primers. Fifty-one Iraqi RA patients (22 males and 29 fem

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