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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 Oct 31 2020
Journal Name
Iraqi Journal Of Agricultural Sciences
PERFORMANCE AND MOLECULAR ANALYSIS OF POTATO LINES DEVELOPED FROM GAMMA RAYS AND EMS APPLICATIONS
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An experiment was conducted in a greenhouse - research station B - College of Agricultural Engineering Sciences, University of Baghdad, during the fall season of 2018 with the aim of propagating and initially studying the field performance of 18 and 20 potential potato lines derived from Rivera and Arizona cv. after in vitro exposure of nodal segments to different dosages of gamma rays (0, 10, 20, and 30 Gray) and EMS (0, 10, 20, and 30 mM). Each control cultivar and their derived lines were independently cultured in plastic bags according to the RCBD, with three replications. The results showed that the highest plant height and number of leaves were obtained from Arizona derived lines which gave 60.11 cm and 25.30 leaves.plant-1 in

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Publication Date
Fri Oct 01 2010
Journal Name
Iraqi Postgraduate Medical Journal
Frequency of genodermatoses among Iraqi patient
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HR Al-Hamami, AA Noaimi, MM Al-Waiz, AS Al-Kabraty, Iraqi Postgraduate Medical Journal, 2010 - Cited by 4

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Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Fat Mass and Obesity Association gene Polymorphism in PCOS Iraqi Women
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             Polycystic syndrome (PCOS) is a considerable infertility disorder in adolescents and adult women in reproductive age. Obesity is a vigorous risk factor related to POCS.  This study aims to evaluate the association of obesity and PCOS by investigating several parameters including:  anthropological, biochemical (lipid profile, fasting blood sugar, glucose tolerance test, and hormone levels (LH, FSH, LH/FSH ratio, Estradiol2 and Testosterone),and genetic parameters (Fat mass and Obesity associated gene (FTO) polymorphism at rs17817449) in 63 obese and non-obese PCOS women. The biochemical tests were investigated by colorimetric methods while FTO gene polymorp

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Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Fat Mass and Obesity Association gene Polymorphism in PCOS Iraqi Women
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             Polycystic syndrome (PCOS) is a considerable infertility disorder in adolescents and adult women in reproductive age. Obesity is a vigorous risk factor related to POCS.  This study aims to evaluate the association of obesity and PCOS by investigating several parameters including:  anthropological, biochemical (lipid profile, fasting blood sugar, glucose tolerance test, and hormone levels (LH, FSH, LH/FSH ratio, Estradiol2 and Testosterone),and genetic parameters (Fat mass and Obesity associated gene (FTO) polymorphism at rs17817449) in 63 obese and non-obese PCOS women. The biochemical tests were investigated by colorimetric methods while FTO gene polymorphism was detected by PCR–RFLP.  Lipid profile, F

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Publication Date
Tue Sep 08 2020
Journal Name
Baghdad Science Journal
Fat Mass and Obesity Association gene Polymorphism in PCOS Iraqi Women
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             Polycystic syndrome (PCOS) is a considerable infertility disorder in adolescents and adult women in reproductive age. Obesity is a vigorous risk factor related to POCS.  This study aims to evaluate the association of obesity and PCOS by investigating several parameters including:  anthropological, biochemical (lipid profile, fasting blood sugar, glucose tolerance test, and hormone levels (LH, FSH, LH/FSH ratio, Estradiol2 and Testosterone),and genetic parameters (Fat mass and Obesity associated gene (FTO) polymorphism at rs17817449) in 63 obese and non-obese PCOS women. The biochemical tests were investigated by colorimetric methods while FTO gene polymorphism was detected by PCR–RFLP.  Lipid profile, F

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Publication Date
Mon Sep 30 2024
Journal Name
Iraqi Journal Of Science
Molecular and Immunological Detection of Hepatitis C Virus in Patients with Chronic Renal Failure
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Due to its association with hepatocellular carcinoma and being one of the ten most common malignancies worldwide, hepatitis C viral infection has become a severe public health concern. Therefore, establishing an accurate, reliable and sensitive diagnostic test for this infection is strongly advised. Real-time polymerase chain reaction (PCR) has been created to achieve this purpose. The current study was established to investigate the hepatitis C virus among Iraqi patients with chronic renal failure and to detect the virus immunologically by the fourth generation enzyme-linked immunosorbent assay technique and molecularly by real-time PCR. As a result, out of 50 patients with chronic renal failure undergoing dialysis, 39 patients tes

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Publication Date
Tue Feb 27 2024
Journal Name
Pharmacia
Association of the rs1801133 and rs1801131 polymorphisms in the MTHFR gene and the adverse drug reaction of methotrexate treatment in a sample of Iraqi rheumatoid arthritis patients
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Background: Methotrexate is one of the mainstays for treating rheumatoid arthritis (RA) with a wide range of adverse drug reactions, however, it’s the relationship between adverse drug reactions and genetic polymorphism remains to be highlighted, and there is a lack of studies concerning Arabic Iraqi population regarding this aspect.

Objective: Evaluate the association between genetic mutations in the MTHFR gene in SNPs (rs1801133G&gt;A and rs1801131T&gt;G) on the adverse drug reaction for RA Iraqi patients.

Methods: An observational study, that involved 95 Iraqi RA patients with established RA. Patien

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Publication Date
Sun May 15 2022
Journal Name
Al-kindy College Medical Journal
Impact of Tobacco Use in the Etiology of Chronic Renal Failure Among Sudanese Patients: Tobacco and Renal Failure Among Sudanese Patients
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Background: Chronic renal failure (CRF) is a clinical syndrome that occurs when there is gradual decline in renal operation overtime.

Objective: This study aims to investigate the prevalence of depression among medical students at university of Baghdad, college of medicine in Iraq and the association between some variables and depression.

Aim: This study aimed to identify the impact of tobacco use in the etiology of chronic renal failure among Sudanese patients in Omdurman Military Hospital and Omdurman Kidney Dialysis Center

Materials and methods: This descriptive community-based study was conducted in Khartoum State. A random sample of 100 cases with chronic renal failure and 100

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Publication Date
Wed Sep 10 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Expression of Ki67 and p53 as proliferation and apoptosis markers in adenoid cystic carcinoma
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Background: Adenoid cystic carcinoma (ACC) constitutes about 4% of salivary epithelial tumors and is the second common malignant epithelial salivary gland tumor involving both the major and minor salivary glands. Aims of the study is to evaluate immunohistochemical expression of Ki67 and p53 proteins in ACC. Materials and Methods: immunohistochemical analyses of fifteen cases of formalin – fixed paraffin – embedded tissues blocks of ACC of salivary glands using ki67 and p53 antibodies. Results: ki67 was expressed in 6 of 15 ACC (40%) while p53 aberration was demonstrated in 11 of tumor (73.3%). There was a statistically significant difference between the expression of ki67 and p53 proteins in ACC cases (p value = 0.041). Pearson’s cor

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Publication Date
Mon Jan 01 2024
Journal Name
Farmacia
ASSOCIATION OF NFE2L2 GENE POLYMORPHISM (rs35652124) WITH DEVELOPMENT OF RETINOPATHY IN IRAQI TYPE 2 DIABETIC PATIENTS, IN RELATION TO VASCULAR ENDOTHELIAL GROWTH FACTOR AND ENDOCAN SERUM LEVELS
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