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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
Sat Apr 01 2023
Journal Name
Iop Conference Series: Earth And Environmental Science
Using PCR and Gel Electrophoresis Techniques to Molecular Confirm and Detection for Flowering Gene Presence in Maize Hybrids
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Abstract<p>The laboratory experiment was conducted in the laboratories of the Musayyib Bridge Company for Molecular Analyzes in the year 2021-2022 to study the molecular analysis of the inbreed lines and their hybrids F1 to estimate the genetic variation at the level of DNA shown by the selected pure inbreed lines and the resulting hybrids F1 of the flowering gene. Five pure inbreed lines of maize were selected (ZA17WR) Late, ZM74, Late, ZM19, Early ZM49WZ (Zi17WZ, Late, ZM49W3E) and their resulting hybrids, according to the study objective, from fifteen different inbreed lines with flowering time. The five inbreed lines were planted for four seasons (spring and fall 2019) and (spring and fall 2</p> ... Show More
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Publication Date
Sun Jun 03 2012
Journal Name
Baghdad Science Journal
Staphylococcal infections among leukemic patients
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Staphylococcus are cause hospital community acquired infection and they are an important cause of health –care associated infection.The Coagulase positive Staphylococcus are Staphylococcus aureus which can implicated in toxic shock syndrome. Methicillin and Vancomycin Staphylococcus aureus resistant (MRSA, VRSA) become major cause of hospital- acquired infection and community acquired infection.Coagulase negative staphylococcus emerged as major cause of infection in immunocompromised patients.The main objective of this study was to evaluate the distribution of Staphylococci among leukemic patients since it is well known that leukemic patients are prone to be infected easily due to their immunosuppressed status.This study was undertaken b

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Publication Date
Tue Dec 01 2020
Journal Name
Baghdad Science Journal
Association between Allelic Variations of -174G/C Polymorphism of Interleukin-6 Gene and Chronic Kidney Disease-Mineral and Bone Disorder in Iraqi Patients
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This study designed to examine association between-174G/C polymorphism of interleukin-6 gene and phosphate, calcium, vitamin D3, and parathyroid hormone levels in Iraqi patient with chronic kidney disease on maintenance hemodialysis. Seventy chronic renal failure patients (patients group) and 20 healthy subjects (control group) were genotyped for interleukin-6 polymorphism and genotyping was performed by conventional polymerase chain reaction-restriction fragment length polymorphism. No significant differences in phosphate levels were observed in patients and control with different interleukin-6 genotypes. Control had non-significant differences in calcium levels, while patients with GG and CG genotypes displayed significant e

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Publication Date
Tue Jun 01 2021
Journal Name
Ibn Al- Haitham Journal For Pure And Applied Sciences
Gene Expression of NLRP3 Inflammasome in Celiac Disease of Iraqi Children
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Celiac disease (CD) is an autoimmune disorder characterized by chronic inflammation that essentially affects the small intestine and is caused by eating gluten-containing foods. This study sought to determine gene expression of NLRP3 Inflammasome in peripheral blood of Iraqi CD children using quantitative real-time PCR (qRT-PCR) assay. Thirty children with CD (12 males and 18 females) were enrolled in the study and their age range was 3-15 years. The diagnosis of the disease was confirmed by serological examinations and intestinal endoscopy. A control sample of 20 age-matched healthy children was also included. The children were stratified for age, gender, body max index (BMI), histological findings, and marsh classification. Furthe

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Publication Date
Tue Jun 01 2021
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Gene Expression of NLRP3 Inflammasome in Celiac Disease of Iraqi Children
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Celiac disease (CD) is an autoimmune disorder characterized by chronic inflammation that essentially affects the small intestine and is caused by eating gluten-containing foods. This study sought to determine gene expression of NLRP3 Inflammasome in peripheral blood of Iraqi CD children using quantitative real-time PCR (qRT-PCR) assay. Thirty children with CD (12 males and 18 females) were enrolled in the study and their age range was 3-15 years. The diagnosis of the disease was confirmed by serological examinations and intestinal endoscopy. A control sample of 20 age-matched healthy children was also included. The children were stratified for age, gender, body max index (BMI), histological findings, and marsh classification. Fu

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Publication Date
Tue Sep 19 2017
Journal Name
Journal Of Neoplasm
The stage of breast cancer at the time of diagnosis: correlation with the clinicopathological findings among Iraqi patients
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Background: Breast cancer is the most frequently diagnosed malignancy and the second leading cause of mortality among women in Iraq forming 23% of cancer related deaths. The low survival from the disease is a direct consequence to the advanced stages at diagnoses. Aim: To document the composite stage of breast cancer among Iraqi patients at the time of diagnosis; correlating the observed findings with other clinical and pathological parameters at presentation. Patients and Methods: A retrospective study enrolling the clinical and pathological characteristics of 603 Iraqi female patients diagnosed with breast cancer. The composite stage of breast cancer was determined according to UICC TNM Classification System of Breast Cancer and the Ameri

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Publication Date
Mon Jan 30 2023
Journal Name
Iraqi Journal Of Science
Gene Expression Evaluation of Intracellular Adhesins and Regulatory Genes among Biofilm Producing MRSA Isolates
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       The gene expression of the most important structural genes ica A and D of biofilm, sarA, and sigB regulatory genes of some methicillin-resistant Staphylococcus aureus (MRSA) isolates were examined using the real-time polymerase chain reaction after 24 hours of growth. The results revealed that the isolates with strong biofilm production had the highest gene expression of the structural icaA and D genes. Whereas the isolates that showed moderate and weak biofilm production, recorded the lowest gene expression. The results of the regulatory genes sarA, and sigB fluctuated among all MRSA isolates. Isolate No. 64 recorded the highest gene expression

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Publication Date
Tue Sep 01 2020
Journal Name
Meta Gene
Genetic polymorphisms frequency of vitamin D receptor gene rs7975232 and rs731236 in Iraqi thalassemic patients and healthy controls compared to Arabian healthy populations
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Publication Date
Fri May 05 2023
Journal Name
Journal Of Population Therapeutics And Clinical Pharmacology
The Association Between -697C&gt;G and -997G&gt;A polymorphism of the HTR2C Gene and the Metabolic Syndrome in Iraqi Schizophrenic Patients
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Publication Date
Thu Mar 14 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Impact of MDR-1 Gene Polymorphism (rs1128503) on Response to Imatinib or Nilotinib in Iraqi Patients with Chronic Myeloid Leukemia: An Observational Study
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Background: There is a significant molecular response to imatinib given at standard doses in individuals with chronic myeloid leukemia (CML) whose ABCB1 polymorphisms are present. Objective: To investigate the impact of the polymorphism in the ABCB1 gene rs1128503 on the effectiveness of nilotinib or imatinib therapy. Methods: From May 2022 until the end of January 2023, the current study was carried out in a single research institution, the National Center of Hematology, Baghdad Teaching Hospital at Medical City, Iraq. 76 people with chronic phase myeloid leukemia (CML-CP), who had previously received a diagnosis using the European Leukemia Net (ELN) criteria, enrolled in the trial. The PCR product was delivered to Macrogen Corpora

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