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Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
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Abstract<sec> <title>Background

Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria.

Results

The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries.

Conclusion

Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.

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Publication Date
Thu Apr 01 2021
Journal Name
Journal Of Molecular Structure
Mixed-ligand complexes of ampicillin derived Schiff base ligand and Nicotinamide: Synthesis, physico-chemical studies, DFT calculation, antibacterial study and molecular docking analysis
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A novel series of mixed-ligand complexes of the type, [ML1(L2)3]Clx [M= Cr(III), Fe(III), Co(II),Ni(II), Cu(II), Cd(II) and Hg(II), n = 2, 3], was synthesized using Schiff base (HL1) as main ligand, nicotinamide (L2) as secondary ligand, and the corresponding metal ions in 1:3:1 molar ratio. The main ligand, HL1 was prepared by the interaction of ampicillin drug and 4-chlorobenzophenone. The synthesized mixed ligand complexes were characterized by elemental analysis, UV-Vis, FT-IR,1H-NMR,13C-NMR and TG/DTG studies. In the mixed-ligand complexes, the Schiff base ligand, HL1 showed coordination to the central metal ion in tridentate manner via azomethine nitrogen, β-lactam ring oxygen and deprotonated carboxylic oxygen atoms, whereas the sec

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Publication Date
Tue Jan 18 2022
Journal Name
مجلة ديالى للعلوم الصرفة
Study the gene expression of aacC1 gene in Acinetobacter baumannii that responsible for Aminoglycoside resistance
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Publication Date
Sun Sep 01 2019
Journal Name
Meta Gene
Association of HLA-G + 3142G &gt; C gene polymorphism and toll-like receptor-9 serum level in systemic lupus erythematosus patients
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Background: Human leukocyte antigen-G (HLA-G)and Toll-like receptor-9 (TLR-9)play a role in the regulation of autoimmune diseases and inflammatory processes. Aim of the study: To detect the HLA-G + 3142G > C gene polymorphism that associated with the susceptibility to SLE patients and associated with Hepatitis B infection and TLR-9 serum level. Patients and methods: This study was done on 75 SLE patients and 75 healthy control groups. Genotyping of HLA-G + 3142G > C were detected by PCR and PCR-RFLP methods. In addition to the estimation of Hepatitis B surface (HBs)antigen status by immunochromatography technique and TLR-9 serum level by ELISA technique. Results: The HLA-G + 3142G > C gene polymorphism between the SLE patients and controls

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
Evaluation of Etiological Causes of Hypothyroidism among Patients Visiting Specialized Center for Diabetes and Endocrinology
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Background: Many structural or functional abnormalities can impair the production of thyroid hormones and cause hypothyroidism.Objectives: to identify the main etiological causes of hypothyroidism among patients visiting Specialized Center for Diabetes and Endocrinology.Methods: This study was conducted in the Specialized Center for Diabetes and Endocrinology on 217 patients with proved hypothyroidism, from 2006 to 2008. Every patient was tested with thyroid function tests, Ultrasound examination, thyroid autoantibodies, fine needle aspiration, radiology of skull, isotopes scan, also checking adrenal and gonadal function. Results: Out of these 217 patients 120 patients have thyroiditis 33 patients had been undergone thyroidectomy. 39 pat

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Publication Date
Mon Jan 01 2018
Journal Name
Biochemical Cellular Archive
Immunological and molecular detection of herpes simplex virus type 1 and 2 in patients clinically diagnosed with parkinson’s disease and multiple sclerosis
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To determine the relationship between herpes simplex virus 1, 2 and neurological disorders, sixty samples from patients with neurological diseases were collected (40 patients with Multiple sclerosis and 20 patients with Parkinson’s disease) all of whom attended both the Neurological science Hospital as well as the Neuropathology consultation Department in Baghdad Hospital In Iraq. The samples were collected in the time frame between November 2017 and April 2018. The ages of the patients that were investigated were between (17-76) years and compared to a control group consisting of 25 samples collected from apparently healthy individuals. All the studied groups were subjected to the measurement of anti-HSV 1, 2 IgG antibodies by the means

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Publication Date
Tue Mar 30 2021
Journal Name
Baghdad Science Journal
Diversity Assessment by Molecular Barcoding and Seed Morphology in Ricinus communis L.: Molecular diversity of Ricinus seeds
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Fourteen morphologically varied Ricinus communis L. seeds were collected from different localities in Egypt, El-Sudan and Saudi Arabia. Seed morphology and ITS barcoding analysis were performed to assess their diversity and phylogenetic relationship. Sequence’s alignment of nrITS region from different accessions display high levels of genetic similarities. Cluster analysis could not group different accessions according to their geographical distribution. Nevertheless, the genetic barcodes are interestingly matched with the morphological features of the Ricinus seeds. In conclusion, seed morphology proved to be a valuable tool in evaluating biodiversity and phylogenetic relationship in plant species with different loca

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Publication Date
Mon Apr 01 2019
Journal Name
Biochem. Cell. Arch
Association Of – 1195a/g Single Nucleotide Polymorphism Of Cyclooxygenase-2 Gene With The Severity Of Chronic Periodontitis In An Iraqi Population
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Chronic periodontitis (CP) is an inflammatory disease affecting tooth supporting structures in response to bacterial dental plaque causing irreversible tissue destruction. Cyclooxygenase-2 (COX-2) is an effective mediator in the pathogenesis of periodontitis. Polymorphisms in the COX-2 gene may contribute to its overexpression and increased disease susceptibility. To evaluate the association between -1195 A/G single nucleotide polymorphism (SNP) in the promotor area of the cyclooxygenase-2(COX-2) gene and severity of chronic periodontitis in a sample of Iraqi population. -1195A/ G COX-2 SNP was investigated in 70 chronic periodontitis (CP) cases and 30 healthy controls. CP cases composed of 2 subgroups (35 moderate CP cases and 35 severe CP

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Publication Date
Tue Jun 23 2020
Journal Name
Molecular Biology Reports
The correlation of combined OGG1, CYP1A1 and GSTP1 gene variants and risk of lung cancer of male Iraqi waterpipe tobacco smokers
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Genetic polymorphisms of genes whose products are responsible for activities, such as xenobiotic metabolism, mutagen detoxification and DNA-repair, have been predicted to be associated with the risk of developing lung cancer (LC). The association of LC with tobacco smoking has been extensively investigated, but no studies have focused on the Arab ethnic- ity. Previously, we examined the association between genetic polymorphisms among Phase I and Phase II metabolism genes and the risk of LC. Here, we extend the data by examining the correlation of OGG1 Ser326Cys combined with CYP1A1 (Ile462Val and MspI) and GSTP1 (Ile105Val and Ala103Val) polymorphisms with the risk of LC. Polymerase chain reaction- restriction fragment length polymorphism (

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Publication Date
Tue Mar 20 2018
Journal Name
Day 3 Thu, March 22, 2018
Southern Iraqi Oil Fields Drilling Problems Identification, Analysis, and Treatment
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Abstract<p>Multiple drilling problems are being faced continuously while drilling wells in the southern Iraqi oil fields. Many of which are handled poorly and inefficiently which yields longer non-productive time due to the lack of knowledge about the source of these problems. This study aims to investigate the Basra oil fields formations from Faris to Mishrif, diagnose the potential problems, and present the optimum treatment for each problem.</p><p>Gathering of field data and previous studies on the subject, in addition to the field experience of drilling supervisors were all the information bases of this study. Southern Iraqi oil fields were studied and analyzed care</p> ... Show More
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Publication Date
Sun Jan 01 2023
Journal Name
Aip Conference Proceedings
Iraqi stock market structure analysis based on minimum spanning tree
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tock markets changed up and down during time. Some companies’ affect others due to dependency on each other . In this work, the network model of the stock market is discribed as a complete weighted graph. This paper aims to investigate the Iraqi stock markets using graph theory tools. The vertices of this graph correspond to the Iraqi markets companies, and the weights of the edges are set ulrametric distance of minimum spanning tree.

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