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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
Sun Dec 06 2015
Journal Name
Baghdad Science Journal
Evaluating molecular study of the association of Glutathione S – Transferase GST (T1 , M1) genetic polymorphism in Iraqi Arab Femals with Type 2 Diabetes Mellitus and Coronary Artery Disease
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Coronary artery disease (CAD) is a major health concern and leading of death in individuals with type 2 diabetes mellitus (T2DM). Glutathione S – Transferase(GST) are known for their broad range of detoxification and in the metabolism of xenobiotics . The role of functional variants of these genes in the development of various disorder is proven. We investigated the possible role of these variants in the development of CAD in T2DM patients. In this case – control study a total of 60 patients (T2DM = 30 ; T2DM – CAD = 30) and 30 controls were included. Serum lipid profiles were measured and DNA was extracted from the blood samples. Multiplex PCR for GSTT1/M1 (present / null) polymorphism, were performed for genotyping of study pa

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Publication Date
Sat Sep 30 2023
Journal Name
Iraqi Journal Of Science
Study on tssC1 Gene Mediating Biofilm Antibiotics Resistance of Pseudomonas aeruginosa
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P. aeruginosa is a famous bacterium that causes several diseases and has a high ability to be a multidrug resistant organism that is linked with the formation of biofilm. This study aimed to investigate tssC1 gene role in the resistance of different antibiotics in the presence of biofilm. We constructed biofilm for the isolates under the study and showed the effect of different antibiotics on biofilm formation and maturation. The presence of the gene was detected through achieving PCR reaction. Finally, tssC1 gene variation was determined through sequencing and aligning the sequencing products. The results showed that most of the isolates (80%) formed biofilm that played a role in the resistance of different antibiotics which could

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Publication Date
Sun Mar 04 2018
Journal Name
Baghdad Science Journal
Genotyping of fusA Gene from Clinical Isolates Acinetobacter baumannii in Baghdad
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This study aims at detecting the differences in genotyping of coding region fusA gene in clinical isolates of Acinetobacter baumannii from Baghdad, Iraq. Collected two hundred clinical samples (50 samples from urine, 50 samples from wound, 50 samples from sputum and 50 samples from otitis infections). Laboratory diagnosis for bacterial isolates carried out by some biochemical tests and confirmed by using VITEK- 2 compact system. The results appeared that twenty isolates of Acinetobacter baumannii in all these samples. Genotyping study was performed of coding region fusA gene of the extracted genome of all bacterial isolates and used specific primers in achieved amplification process of this target gene. DNA sequencing of this gene and alig

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Publication Date
Sat Jun 15 2024
Journal Name
Journal Of Legal Sciences
Criminal Protection of Human Genome “Human Gene Editing as a Model”
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Lawful protection of the human gene conceded a moral concern regarding the future of existence human. After the discovery of the human genetic map, scientific experiments and research related to the human gene increased, negative applications of genetic engineering  in particular that violate essential human rights,  the right to human dignity to be specific. These practices represent actual challenges to the existence and diversity of current and future generations. Therefore, the presence of legal rules at the domestic and global levels is an absolute necessity to prohibit these threats and determine civil and criminal accountability for those who infringe any laws related to this issue.

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Publication Date
Thu Mar 01 2012
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
Risk Analysis in Group Life Insurance: An Applied Research in the General Iraqi Insurance Company
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Insurance actions has become a task of the vital foundations on    which the international economy depends, where its presence helped in the development of economic resources in which human resource is considered the most important of these resources. Insurance companies play the biggest role in protecting this resource and minimizing the impact of the dangers that verify this condition.Human has worked hard to get rid of the dangers and its harm, and to devise many ways to prevent them. A risk management is considered within human’s creations in order to create a society with fewer negative risks impacts.

                On this basis, th

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Publication Date
Tue Jul 27 2021
Journal Name
Journal Of Craniofacial Surgery
Morphometric Analysis of the Mental Foramen Variation in an Iraqi Population by Using Cone-Beam Computed Tomography
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Publication Date
Mon Jun 01 2015
Journal Name
Journal Of The College Of Languages (jcl)
An Analysis of Textual Themes in M.A Theses and Ph. D. Dissertations Written by Iraqi EFL Learners
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The present study investigates the realization and significance of textual themes in the organizational structure of M.A theses and Ph.D. dissertations, namely: the abstracts, introductions and conclusions, since in such parts the students depend on their own expressions, styles and constructions to express different viewpoints, plans, inferences, etc. The study also investigates the similarities and differences between M.A theses and Ph.D. dissertations concerning the use of textual themes;it sets out to conduct a detailed analysis of textual themes used in such texts. In conducting such an analysis, the study adopts Halliday's (1994) approach of textual themes. The results of such an analysis have clearly shown that, in spite of the di

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Publication Date
Fri Jun 30 2023
Journal Name
Journal Of The College Of Education For Women
The Construction of the Iraqi Child in the UNICEF Reports during Covid19 Pandemic: A Critical Discourse Analysis
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The present paper aims at investigating the linguistic image portrayed by UNICEF reports on the Iraqi child from a critical discourse analysis perspective during Covid19 pandemic (2020). The paper attempts to fill a gap in research literature concerning the linguistic construction of the Iraqi child by the UNICEF reports during the critical health crisis of Covid19. Van  Leeuwen’s (2008) approach of social actor representation has been adopted for this purpose. From Van  Leeuwen’s approach, the category of determination (single determination and overdetermination) has been selected to be the main analytical tool for its high compatibility with the set of objectives put forward to figure out how such a globally effective and

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Publication Date
Sun Sep 14 2025
Journal Name
Iraqi Journal For Administrative Sciences
Using the Statistical Analysis to study the important reasons of the pollution in the Iraqi Marshlands Areas
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The need for detection and investigation of the causes of pollution of the marshes and submit a statistical study evaluated accurately and submitted to the competent authorities and to achieve this goal was used to analyze the factorial analysis and then obtained the results from this analysis from a sample selected from marsh water pollutants which they were: (Electrical Conductivity: EC, Power of Hydrogen: PH, Temperature: T, Turbidity: TU, Total Dissolved Solids: TDS, Dissolved Oxygen: DO). The size of sample (44) sites has been withdrawn and examined in the laboratories of the Iraqi Ministry of Environment. By illustrating SPSS program) the results had been obtained. The most important recommendation was to increase the pumping of addit

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Publication Date
Sun Mar 01 2020
Journal Name
Annals Of Burns And Fire Disasters
ANALYSIS OF BLOOD CULTURE RESULTS OF BURN SEPTICAEMIA PATIENTS OVER A PERIOD OF NINE YEARS IN THE BAGHDAD BURN MEDICAL CENTRE
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Burn is one of the most devastating traumas that someone can encounter in their life. Burn wound sepsis is still the leading cause of death in burned patients. Appropriate knowledge of the causative pathogen in burn sepsis is important for successful patient management and for the reduction of the incidence of antibiotic resistance. A retrospective study was conducted between 2010 and 2018 at the Burn Specialty Hospital in Baghdad.Atotal of 320 blood culture samples were obtained from patients with sepsis orsuspected of having sepsis. Patient age ranged between 9 months to 70 years old, with a mean total burn surface area of 45.26%. The most common microorganisms isolated from those patients who had sepsis or suspicion of sepsis were Klebsi

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