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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
Tue Mar 10 2020
Journal Name
Journal Of Research On The Lepidoptera
Study of the Association of Glucagon like Peptide-1 Receptors (GLP-1R) Gene Polymorphism and GLP-1 Hormone Levels in Type 2 Diabetics Patients in Iraq
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Publication Date
Wed Mar 15 2023
Journal Name
Bionatura
Gene expression in some maize genotypes
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fields of the College of Agricultural Engineering Sciences, University of Baghdad/Al-Jadriya, in the fall season 2021-2022. With three sowing dates (26 July, 4 August, 12 August), The experiment was implemented according to a randomized complete block design (RCBD) with three replications. The aim is to detect the expression of the INCW1 gene associated with sucrose-to-glucose analysis, which is critical for many metabolic functions in different sink tissues, and determine the amount of fold gene expression to find out which of the genotypes contain the invertase gene, and which ones have a high level of gene expression based on the fold of gene expression. The results showed significant differences in the invertase enzyme activity for the

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Publication Date
Thu Jul 04 2024
Journal Name
Pakistan Journal Of Life And Social Sciences
Analysis of Kidney Amino Acids in Iraqi Pin-Tailed Sandgrouse Pterocles Alchata Bird
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The amine group (NH2) and the carboxyl group (COOH-) are the fundamental components of amino acids. They regulate several essential physiological functions of organisms and are found in all forms of life, including humans, plants, and microorganisms. Furthermore, they serve as vital energy sources and also act as neurotransmitters. An analysis of the kidneys of Pterocles alchata, an Iraqi Pin-tailed sandgrouse, revealed the presence of 18 specific amino acids. The data indicate that there were no significant differences in the total amounts of amino acids among the three renal lobes. The concentrations in the anterior, middle, and posterior lobes were measured to be 14.154 ą97. 273, 12.437 ą87. 255, and 11.882 ą88. 157 correspondingly, w

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Publication Date
Sat Aug 17 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Analysis of Follicular Fluid Fatty Acids in Iraqi Women Undergoing Intracytoplasmic Sperm Injection
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Background: Oocytes are susceptible to alterations in the various fatty acid contents of follicular fluid (FF), which may influence maturation and embryogenesis. Different fatty acids exert various effects on intracytoplasmic sperm injection (ICSI), which needs further studies to uncover the involved mechanisms. Objectives: To assess FF fatty acids in women undergoing ICSI and to correlate them with ICSI parameters, namely the total count of aspirated oocytes, oocyte maturation rate, fertilization rate and percentage of good-quality embryos. Methods: Fifty women undergoing ICSI were enrolled in this cross-sectional study. FF samples were collected during oocyte retrieval and were analyzed for fatty acids using gas chromatography. Fa

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Publication Date
Sat Aug 17 2024
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Analysis of Follicular Fluid Fatty Acids in Iraqi Women Undergoing Intracytoplasmic Sperm Injection
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Background: Oocytes are susceptible to alterations in the various fatty acid contents of follicular fluid (FF), which may influence maturation and embryogenesis. Different fatty acids exert various effects on intracytoplasmic sperm injection (ICSI), which needs further studies to uncover the involved mechanisms. Objectives: To assess FF fatty acids in women undergoing ICSI and to correlate them with ICSI parameters, namely the total count of aspirated oocytes, oocyte maturation rate, fertilization rate and percentage of good-quality embryos. Methods: Fifty women undergoing ICSI were enrolled in this cross-sectional study. FF samples were collected during oocyte retrieval and were analyzed for fatty acids using gas chromatography. Fa

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Publication Date
Sun Jun 03 2012
Journal Name
Baghdad Science Journal
A Biochemical Study for Evaluation and Analysis of Serum Protein of Patients with Different Kidney Tumors
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The amount of protein in the serum depends on the balance between the rate of its synthesis, and that of its catabolism or loss. Abnormal metabolism may result from nutritional deficiency, enzyme deficiency, abnormal secretion of hormones, or the actions of drugs and toxins. Renal cancer is the third most common malignancy of the genitourinary system, and accounts for 3% of adult malignancies globally. Total serum proteins were measured in malignant kidney tumor, benign kidney tumors, and non tumoral kidney diseases patient groups, as well as in healthy individuals. A significant decrease (p< 0.001) of total serum protein levels in patients with malignant kidney tumors when compared with those of benign tumors, non tumoral diseases, and hea

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Publication Date
Fri Sep 01 2023
Journal Name
Asian Pacific Journal Of Cancer Prevention
Development of a T-ARMS-PCR Assay for Detecting Genetic Polymorphism in the Catalase (rs7943316) Gene in the Iraqi Population with Breast Cancer
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Publication Date
Tue May 01 2018
Journal Name
International Journal Of Medical Research & Health Sciences
Estimation of Serum Matrix Metalloproteinases-1 Levels in Iraqi Female Patients with Osteoarthritis
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This study was established to investigate the correlation between the expression of matrix metalloproteinases (MMP-1) and the pathogenesis of osteoarthritis (OA). Blood samples were collected from 55 female patients with inflammatory OA and controls for estimation of serum (MMP-1) levels. In the current study, there is significant increase (p<0.001) in the mean of serum MMP-1 levels in osteoarthritis females (4027.73 ± 1345.28 pg/ml) than that in control females (798.76 ± 136.79 pg/ml). It was concluded that MMP-1 may be associated with the pathogenesis of osteoarthritis.

Publication Date
Mon Apr 01 2019
Journal Name
Biochemical And Cellular Archives
Association Of Human Cytomegalovirus With Her2 Protooncogene Overexpression In Iraqi Breast Cancer Patients
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Human cytomegalovirus (HCMV) has a worldwide distribution and common infections. The presence of HCMV genome and antigens has been detected in many kinds of human cancers. The proto-oncogene Her2/neu is overexpressed in 25% to 30% of human breast cancers and frequently associated with tumor aggressiveness and worse prognosis. Examination was applied to detect different HCMV antigens and to demonstrate their correlation with Her2/neu overexpression in breast cancer. The present study includes samples from 70 women of 60 breast cancer patients and 10 normal breast tissues. Formalin-fixed paraffin embedded tissue blocks were obtained from each woman according to ethical approval. Human cytomegalovirus early antigen expression was detected in 5

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Publication Date
Fri Oct 11 2019
Journal Name
Open Access Macedonian Journal Of Medical Sciences
Immunohistochemical Expression of Epidermal Growth Factor Receptor in Astrocytic Tumors in Iraqi Patients
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BACKGROUND: Diffuse astrocytomas constitute the largest group of primary malignant human intracranial tumours. They are classified by the World Health Organization (WHO) into three histological malignancy grades: diffuse astrocytomas (grade II), anaplastic astrocytomas (grade III) and glioblastoma (grade IV) based on histopathological features such as cellular atypia, mitotic activity, necrosis and microvascular proliferation. Epidermal growth factor receptor (EGFR) is a 170-kDa transmembrane tyrosine kinase receptor expressed in a variety of normal and malignant cells regulating critical cellular processes. When activated, epidermal growth factor receptor (EGFR) triggers several signalling cascades leading to increased proliferatio

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