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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 14 2025
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Polycystic Ovary Syndrome and Urinary Tract Stones: A Body Mass Index-Adjusted Analysis in Iraqi Women
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Background: Polycystic ovary syndrome (PCOS) has an unknown and complex etiology. It affects 5–10% of women in the reproductive age. Patients are known to have increased ovarian androgen production that is associated with decreased menses, hirsutism, and acne. Urinary tract stones (UTS) are a multifactorial disorder, with age and sex being known risk factors. Many PCOS patients are obese, and links between nephrolithiasis and obesity have been shown previously. Objectives: To identify the relation between PCOS and UTS considering the patients' body mass index (BMI). Methods: This is a cross-sectional study that enrolled 407 women aged 18-40 who attended the gynecology and obstetrics clinic at Al-Elwiya Maternity Teaching Hospital.

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Publication Date
Sun Dec 16 2012
Journal Name
Journal Of Physical Education
Analysis study for some offensive plans for Iraqi Duhok participated in Asian club in Basketball 2011
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The tactical side in application of offensive plans in basketball did not take a large in scientific research because it always change because it related in mental ability of players and for the condition of the game and researchers notice that from their followed a lot of games for Duhok basketball club in Iraq league. There is a problem that connected in games results it clears in weakness in application of offensive plans in all kind (man to man & zone defense & side ball plans & under basketball and half court). The goal of study concentrate by designing a sheet for som offensive plans for study and analysis to Duhok club on Asian Championship 2011 at the base the sample contained (Iraq Duhok & application science Jordan & Lebanon sport

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Publication Date
Tue Dec 28 2021
Journal Name
The Iraqi Journal Of Veterinary Medicine
Evaluating Expression of the STAG1 Gene as a Potential Breast Cancer Biomarker
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STAG proteins, which are part of the cohesin complex and encoded by the STAG genes, are known as Irr1/Scc3 in yeast and as SA/STAG/stromalin in mammals. There are more variants as there are alternate splice sites, maybe three open reading frames (ORFs) code for three main proteins, including: SA1 (STAG1), SA2 (STAG2) and SA3 (STAG3). The cohesin protein complex has various essential roles in eukaryotic cell biology. This study compared the expression of the STAG1 gene in four different breast cancer cell lines, including: MCF-7, T-47D, MDA-MB-468, and MDA-MB-231 and normal breast tissue. RNA was extracted from these cell lines and mRNA was converted to cDNA, and then expression of the STAG1 gene was quantified by three sets of specific prim

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Publication Date
Wed Feb 22 2023
Journal Name
Iraqi Journal Of Science
Detection of blaKPC Gene in Some Clinical Klebsiella pneumoniae Isolates in Baghdad
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For the period from February 2014 till May 2014, one hundred and nine lactose fermenter clinical isolates from different samples (urine, stool, wound swab, blood, and sputum) were collected from Alyarmok, Alkadimiya, and Baghdad teaching hospitals at Baghdad governorate. Identification of all Klebsiella pneumoniae isolates were carried out depending on macroscopic, microscopic characterizations, conventional biochemical tests, and Api 20E system. Fifty-three (48.62%) isolates represented K. pneumoniae; however, 51.73% represented other bacteria. Susceptibility test was achieved to all fifty-three K. pneumoniae isolates using five antibiotic disks (Ceftazidime, Ceftriaxone, Cefotaxime, Imipenem, and Meropenem). Most of tested isolates (90

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Publication Date
Tue Feb 28 2023
Journal Name
Iraqi Journal Of Science
Gentamicin Upregulates the Gene Expression of hla and nuc in Staphylococcus aureus
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The current study aimed to detect the effect of gentamicin stress on the expression of hla (encodes hemolysin) and nuc (encodes nuclease) genes of Staphylococcus aureus. Fifty-eight isolates identified as S. aureus were isolated locally from different clinical specimens. Disk diffusion method was used to detect the resistance to S. aureus. The minimum inhibitory concentration (MIC) of gentamicin was estimated by broth microdilution method. hla and nuc genes were determined by polymerase chain reaction technique. The biofilm was evaluated using the microtiter plate method in the presence and absence of gentamicin at sub-MIC. The results showed that 18 (31%) and 40 (69%) S. aureus isolates were sensitive and resistant to gentamicin, respectiv

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Publication Date
Thu Feb 27 2020
Journal Name
Iraqi Journal Of Science
Gene Expression of pelA and pslA in Pseudomonas Aeruginosa under Gentamicin Stress
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     Pseudomonas aeruginosa produces an extracellular biofilm matrix that consists of nucleic acids, exopolysaccharides, lipid vesicles, and proteins. Alginate, Psl and Pel are three exopolysaccharides that constitute the main components in biofilm matrix, with many biological functions attributed to them, especially concerning the protection of the bacterial cell from antimicrobial agents and immune responses. A total of 25 gentamicin-resistant P. aeruginosa selected isolates were enrolled in this study. Biofilm development was observed in 96% of the isolates. In addition, the present results clarified the presence of pelA and pslA in all the studied isolates. The expression of these genes was very low. Even though all biof

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Publication Date
Mon May 09 2022
Journal Name
مجلة كلية التربية الاساسية الجامعة المستنصرية
Detection of sul1 resistance gene in Acinetobacter baumannii from different Clinical cases
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Publication Date
Thu Jul 20 2023
Journal Name
Journal Of Advanced Biotechnology And Experimental Therapeutics
No evidence of relationship between colorectal cancer susceptibility and ERCC2 gene polymorphisms
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Background: Excision repair cross-complementing group 2 gene (ERCC2) polymorphisms have been linked as being a risk factor for colorectal cancer (CRC) emergence. However, data from several studies are contradictory. To validate genetic biomarkers of the CRC; the impact of the following ERCC2 polymorphism (rs1799793 and rs238406) was examined on CRC susceptibility among sample of Iraqi population. Methods: A total of 126 subjects were enrolled in this case control study; 78 CRC patients and 48 apparently healthy individuals who are age, gender, smoking status and BMI matched. Polymerase chain reaction (PCR) was used for genotyping, followed by sequencing then the association between genetic polymorphisms and CRC risk was investigate

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Publication Date
Tue Jan 01 2019
Journal Name
Iraqi Journal Of Agricultural Sciences
Cloning and expression of a lipase gene from Pseudomonas aeruginosa into E.coli
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Fifteen local isolates of Pseudomonas were obtained from several sources such as soil, water and some high-fat foods (Meat, olives, coconuts, etc.). The ability of isolates to produce lipase was measured by the size of clear zone on Tween 20 solid medium and by measuring the enzymatic activity and specific activity. Isolate M3 (as named in this study) was found to be the most efficient for the production of the lipase with enzymatic activity reached 56.6 U/ml and specific activity of 305.94 U/mg. This isolate was identified through genetic analysis of the 16S rRNA gene. and it was shown that the isolate M3 belongs to Pseudomonas aeruginosa with 99% similarity. The DNA of isolate M3 was extracted and lipase gene was amplified through PCR tec

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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
Gene frequencies of ABO and rhesus blood groups in Sabians (Mandaeans), Iraq
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The present study aimed to determine the frequency of ABO and Rh blood group antigens among Sabians (Mandaeans) population. This paper document the frequency of ABO and Rh blood groups among the Sabians (Mandaeans) population of Iraq.There is no data available on the ABO/Rh (D) frequencies in the Sabians (Mandaeans) population. Total 341 samples analyzed; phenotype O blood type has the highest frequency 49.9%, followed by A 28.7%, and B 13.8% whereas the lowest prevalent blood group was AB 7.6%. The overall phenotypic frequencies of ABO blood groups were O>A>B>AB. The allelic frequencies of O, A, and B alleles were 0.687, 0.2 and 0.1122 respectively. Rhesus study showed that with a percentage of 96.2% Rh (D) positive is by far the mo

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