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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
Wed Nov 28 2018
Journal Name
Iraqi Journal Of Science
Molecular detection of Chlamydia trachomatis infection among males with abnormal semen
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Many studies revealed that Chlamydia trachomatis is the most prevalent bacteria “that cause sexually transmitted infections in the world.. Most of these infections are asymptomatic and there is a remarkable relationship between CT infections and male infertility. Therefore, “the present study is established to determine the effect of Chlamydia trachomatis infection on seminal fluid quality in males suffering from infertility compared with fertile males.. “Semen samples were collected from 63 infertile male and 13 fertile male as control group, attending the clinical laboratory for routine seminal fluid analysis. Seminal fluid was analyzed according to World Health Organization guidelines, the whole geno

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Publication Date
Sun Jul 02 2023
Journal Name
Iraqi Journal Of Science
Molecular Genetics Study on Autistic Patients in Iraq
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This study reflected on the relationship between contactin associated protein-like
2 gene (CNTNAP2) and autism spectrum disorders. The study includes forty autistic
patients and forty non autistic children as control groups (twenty unaffected sibling
and twenty unrelated children). DNA was extracted from Blood samples for
molecular detection of CNTNAP2 mutations associated with ASDs by using
Polymerase Chain Reaction (PCR) technique and sequencing analysis. PCR reaction
was performed to amplify exon 20 of CNTNAP2 gene. The PCR results revealed that
identical bands related to exon 20 of CNTNAP2 gene were present in all samples.
Therefore, five samples (four from autistic patients and one from control sibling)
we

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Publication Date
Mon Feb 01 2021
Journal Name
Meta Gene
Evaluation of interleukin-9 serum level and gene polymorphism in a sample of Iraqi type 2 diabetic mellitus patients
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Background: Diabetic mellitus (DM) is a collection of metabolic disorder identified by hyperglycemia. The heterogeneous etiology includes defects either in insulin secretion, or in insulin action, or the both. In addition to the distraction in carbohydrate, fat and protein metabolism. Inflammatory reaction that caused by many pro-inflammatory cytokines play a central role in the pathogenicity of T2DM, these cytokines can enhance insulin resistance which led to impaired glucose homeostasis. Subjects: The study included 75 patients (38 males and 37 females) suffering from T2DM with age mean ± SE 52.30 ± 1.60, and 70 individuals as healthy controls (35 males and 35 females) with age mean ± SE 48.88 ± 0.64. Evaluation of immunological marke

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Publication Date
Fri May 25 2018
Journal Name
Open Public Health Journal
Comparative Study on the Clinicopathological Profiles of Breast Cancer Among Iraqi and British Patients
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Background: Breast cancer is the most common cancer in Iraq and the United Kingdom. While the disease is frequently diagnosed among middleaged Iraqi women at advanced stages accounting for the second cause of cancer-related deaths, breast cancer often affects elderly British women yielding the highest survival of all registered malignancies in the UK. Objective: To compare the clinical and pathological profiles of breast cancer among Iraqi and British women; correlating age at diagnosis with the tumor characteristics, receptor-defined biomarkers and phenotype patterns. Methods: This comparative retrospective study included the clinical and pathological characteristics of (1,940) consecutive female patients who were diagnosed with invasive b

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Publication Date
Wed Dec 12 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Barriers to Baseline Needs for Early Detection of Breast Cancer among Iraqi Female Patients
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Background: Breast Cancer is the most common malignancy among the Iraqi population; the majority of cases are still diagnosed at advanced stages with poor prospects of cure. Early detection through promoting public awareness is one of the promising tools in its control. Objectives: To evaluate the baseline needs for breast cancer awareness in Iraq through exploring level of knowledge, beliefs and behavior towards the disease and highlighting barriers to screening among a sample of Iraqi women complaining of breast cancer. Methodology: Two-hundred samples were enrolled in this study; gathered from the National

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Publication Date
Wed Feb 27 2019
Journal Name
Iraqi Journal Of Science
Investigation of Secondary Acute Lymphoblastic Leukemia (sALL) Among Acute Lymphoblastic Leukemia (ALL) Iraqi Patients
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Acute lymphoblastic leukemia which developed after first primary solid organ malignancy (1M) considered as secondary acute lymphoblastic leukemia (sALL) and it is rare. The observational study that researches for(sALL) in worldwide and even in Iraq is limited. This study investigated (sALL) among 50 (ALL) Iraqi patients (30 children; 20 adults). Five (4 female;1 male) out of  50 (ALL) patients (10%) were with(sALL) .They asked through questionnaire form about their age , 1M , latency period and immunophenotype .They were in 14-40 years age group and with previous malignancies breast , ovary, lung and thyroid cancers. The median latency period (from 1M to sALL) was 30 months. Four of (sALL) were with B cell immunophenotype , while on

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Publication Date
Sat Feb 01 2020
Journal Name
Meta Gene
Interleukin-1 single nucleotide polymorphisms and risk of systemic lupus erythematosus among Iraqi patients
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Publication Date
Fri Jun 03 2022
Journal Name
Military Medical Science Letters
COVID-19 AMONG A SAMPLE OF IRAQI PATIENTS WITH RHEUMATIC DISEASES: A MULTICENTER STUDY
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Publication Date
Fri Jan 01 2016
Journal Name
Diabetic Foot &amp; Ankle
Risk factors for occurrence and recurrence of diabetic foot ulcers among Iraqi diabetic patients
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Publication Date
Fri Jan 01 2016
Journal Name
Diabetic Foot &amp; Ankle
Risk factors for occurrence and recurrence of diabetic foot ulcers among Iraqi diabetic patients
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There are a few studies that discuss the medical causes for diabetic foot (DF) ulcerations in Iraq, one of them in Wasit province. The aim of our study was to analyze the medical, therapeutic, and patient risk factors for developing DF ulcerations among diabetic patients in Baghdad, Iraq.

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