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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
Fri Mar 29 2024
Journal Name
Iraqi Journal Of Science
Involvement of Total Antioxidant Activity and eNOS Gene rs1799983/ rs2070744 Polymorphisms in Breast Carcinogenesis
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Globally, breast cancer is the common malignancy affecting women and understanding its associated molecular events could help in disease prevention and management strategies. The present study was set to investigate an association between total antioxidant capacity (TAC) and endothelial nitric oxide synthase (eNOS) polymorphisms with breast cancer. For this purpose, 100 subjects were participated in this work, including 50 female patients diagnosed with breast cancer recruited from Oncology hospital, Baghdad - Iraq and 50 healthy women as a control group. The concentration of antioxidants was measured in the serums collected from blood samples of breast cancer patients and healthy controls. While eNOS SNPs (rs1799983, G894T and rs2070744, T

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Publication Date
Sun Jun 01 2025
Journal Name
Microbial Biosystems
Distribution and association of an usp genotoxin gene with biofilm formation in E. coli
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Uropathogenic specific protein is a genotoxic protein targeting the DNA, leading to mutations and modifications in the normal cell's DNA and subsequently, cancer development. This study aims to determine the prevalence of the usp gene in Uropathogenic Escherichia coli isolated from females with urinary tract infections and study its correlation with biofilm formation. One hundred and five urine specimens were collected from female patients (20 to 55 years old) with urinary tract infections attending hospitals. Traditional laboratory methods using selective and differential culture media were used for initial bacterial isolation and identification, and molecular techniques that targeted a segment of the 16SrRNA gene with a specific primer pa

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Publication Date
Wed Feb 12 2014
Journal Name
In Vitro Cellular &amp; Developmental Biology - Plant
Overexpression of a tobacco osmotin gene in carrot (Daucus carota L.) enhances drought tolerance
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Osmotin and osmotin-like proteins belong to the PR-5 pathogenesis-related group of proteins and are induced in response to various types of biotic and abiotic stresses in several plant species. Carrot was transformed with a tobacco osmotin gene that encodes a protein lacking the vacuolar-sorting motif that is composed of a 20-amino-acid sequence at the C-terminal end, under the control of the cauliflower mosaic virus 35S promoter, using Agrobacterium-mediated transformation. Transgene integration and expression were confirmed by Southern and western blot analyses, and three selected transgenic lines were evaluated for their ability to tolerate drought stress. Under drought stress conditions, all transformants exhibited slower rates of wilti

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Publication Date
Sun Feb 26 2023
Journal Name
Biomedicine
Polymorphism in SNP rs972283 of the KLF14 gene and genetic disposition to peptic ulcer
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Introduction and Aim: Kruppel Like Factor 14 (KLF14) gene plays an important role in metabolic illnesses and is also involved in the regulation of many other biological processes. This study's objective was to determine whether or not the KLF14 single-nucleotide-polymorphism (SNP) known as rs972283 was linked to an increased risk of peptic ulcer disease in the population that was being investigated.   Materials and Methods: Participants in this study included 71 people who had been diagnosed with peptic ulcers and 50 people who were considered to be healthy controls. In order to genotype the KLF14 SNP rs972283, an amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) was carried out, and the PCR results were

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Publication Date
Sat Jun 01 2013
Journal Name
Journal Of The College Of Basic Education
Beta-2-Microglobulin as a Biomarker in Iraqi Female Patients with Autoimmune Thyroid and Renal Autoimmune Thyroid Diseases
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The present study was performed on 80 female subjects between (30-60) years, who attended the Specialized Center for Endocrinology and Diabetes during the period from April to July; 2011. The subjects were divided into 3 groups : controls , non diabetic autoimmune thyroid patients , and non diabetic autoimmune thyroid patient with renal diseases as complication The results showed a significant increase in serum T 3 T4 levels in hyperthyroidism patients, and significant decrease in serum T3,T4 levels in hypothyroidism patients ,while a significant difference in serum TSH levels in hyperthyroidism and hypothyroidism patients when compared to control group The results show also a significant increase in serum antibodies to thyroid peroxidas

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Publication Date
Tue Jun 01 2021
Journal Name
Gene Reports
Vitamin D receptor rs2228570 and rs1544410 genetic polymorphisms frequency in Iraqi thalassemia patients compared to other ethnic populations
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Background: The genetic polymorphisms of vitamin D receptor (VDR) have an association with thalassemia development, additionally to the environmental elements that elicited the disorder in the genetically predisposed individuals. As well, VDR functions responsible for the regulation of bone metabolism, such its part in immunity. Aim: The sitting study intended to inspect the association between thalassemia disease and the genetic polymorphisms of VDR among the Iraqi population then compared these findings to other findings of thalassemia patients in other different ethnic populations. Materials and methods: The restriction enzymes Bsm-I and Fok-I were applied to determine the genetic polymorphisms frequencies of VDR by a Polymerase Chain Re

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Publication Date
Sat Sep 01 2018
Journal Name
J Of Baghdad College Of Dentistry
Serum Tumor Necrosis Factor Alpha and High Sensitive C-Reactiveprotein as Biomarkersin Periodontitis in Iraqi Patients with Osteoarthritis
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Publication Date
Sun Sep 27 2020
Journal Name
Iraqi National Journal Of Nursing Specialties
Effectiveness of an Instructional Program Concerning Non-Pharmacological Guideline on Controlling Essential Hypertension among Patients at AL-Sader Hospital in AL-Najaf AL-Ashraf City
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Objective: The aims of present study to detect the effectiveness of instruction program of non-pharmacological guideline on blood pressure and laboratory test.

 

Methodology: A pre-experimental study was conducted in Al-Sader Teaching Hospital   from 8th of September 2019 to 25th of May 2020, in order to find out the effectiveness of instruction program concerning non-pharmacological guideline on controlling essential hypertension among patients. A non- probability (purposive sample) of 50 patients with essential hypertension is selected. Those patients are already diagnosed with Essential Hypertension

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Publication Date
Thu Sep 15 2022
Journal Name
Journal Of Baghdad College Of Dentistry
The effect of sweet and salty taste sensitivity on gin-gival health in relation to salivary serotonin among type1 diabetic patients aged 12-14 years
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Background: This study was conducted among diabetic persons to assess the sweet and salty taste sensitivity with its effect on gingival health in relation to salivary serotonin levels. Materials and methods: A cross-sectional comparative study design was used. All patients with diabetes aged 12-14 years that attend the Paediatric hospital at Baghdad medical city with specific inclusion criteria were involved in the sample of the present study (patients group 50 patients) compared with non-diabetic persons matched in age and gender of the study sample (control group 70 patients) who were attending dental unit in the college of dentistry/university of Baghdad. A two-alternative forced choice question including each component presented at f

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Publication Date
Sun Dec 31 2023
Journal Name
Sumer Journal For Pure Science
COVID-19Disease Diagnosis using Artificial Intelligence based on Gene Expression: A Review
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