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Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
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Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of CYP21A2 gene was done using the CAH StripAssay (ViennaLab Diagnostics) for detection of 11 point mutations and >50% of large gene deletions/conversions. Mutations were found in 42 (67.7%) patients; 31 (50%) patients were homozygotes, 9 (14.5%) were heterozygotes, and 2 (3.2%) were compound heterozygotes with 3 mutations, while 20 (32.3%) patients had none of the tested mutations. The most frequently detected mutations were large gene deletions/conversions found in 12 (19.4%) patients, followed by I2Splice and Q318X in 8 (12.9%) patients each, I172N in 5 (8.1%) patients, and V281L in 4 (6.5%) patients. Del 8 bp, P453S, and R483P were each found in one (1.6%) and complex alleles were found in 2 (3.2%). Four point mutations (P30L, Cluster E6, L307 frameshift, and R356W) were not identified in any patient. In conclusion, gene deletions/conversions and 7 point mutations were recorded in varying proportions, the former being the commonest, generally similar to what was reported in regional countries.

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Publication Date
Sat Jan 01 2022
Journal Name
Mustansiriya Medical Journal
Molecular Detection of Agglutinin-Like Sequence 1 Gene in Candida albicans that is Isolated from Diabetic Foot Patients
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Objectives:

Candida albicans is a microbe living within the natural human flora and is found in the upper respiratory tract, mouth, intestines, and vagina. C. albicans is able to cause infections that range from superficial infections of the skin to life-threatening systemic infections.

Aim of Study:

Detection of virulence gene agglutinin-like sequence (ALS) 1 by using molecular technology from clinical samples (C. albicans

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Publication Date
Sun Apr 04 2010
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Molecular diagnosis of bcr-abl fusion gene in CML patients using Monoplex-Two Steps- Reveres Transcriptase–Polymerase Chain
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Background: Chronic myeloid leukemia (CML) is a stem cell disorder associated with an acquired chromosomal abnormality, Philadelphia chromosome (Ph), which arises from the reciprocal translocation of part of long arm of chromosome 9, in which proto-oncogene ablson gene (abl) is located, to long arm of chromosome 22, in which break point cluster region gene (bcr) is located. The bcr-abl fusion gene can be detected using several molecular methods. For its simplicity, rapidity, and sensitivity, Reverse Transcriptase-Polymerase Chain Reaction (RT-PCR) is one of the most common techniques used for analyzing whether a target gene is being expressed or not.
Patients and methods: Venous blood (VB) sample from hem

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Publication Date
Fri Mar 10 2023
Journal Name
Aspac J. Mol. Biol. Biotechnol
Influence of IL-28B serum level and gene polymorphism in a sample of Iraqi patients with ankylosing spondylitis
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Ankylosing spondylitis (AS) represents one kind of advanced arthritis formed via inflammatory stimuli long-term in the spin‘s joints. Interleukin (IL)-29 (interferon- lambda1(IFN- λ1)), interleukin (IL)-28A (interferon- lambda 2 (IFN- λ2)) and interleukin (IL)-28B (interferon- lambda 3(IFN-λ3)) are three interferon lambda (IFN- λs) molecules that have recently been identified as new members of the IFN family. IL-28B expression in ankylosing spondylitis (AS) is not well understood. 150 male healthy controls ((HC) and 160 males with AS as patients group participated in this study. Serum level and gene polymorphism were assessed using an enzyme-linked immunosorbent assay and Sanger sequencing for IL-28B, respectively. The results showed

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Publication Date
Sun Sep 22 2019
Journal Name
Baghdad Science Journal
A Molecular and Biochemical Study for Cholesteryl Ester Transfer Protein (CETP) Taq1B in Iraqi Patients with Hyperlipidemia
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Cholesteryl ester transfer protein gene contains some single nucleotide polymorphisms, which have been associated with serum high-density lipoprotein concentration and other lipoproteins. This study is done for determining of cholesteryl ester transfer protein polymorphism and evaluate its effect on serum lipid profile concentrations in some hyperlipidemic patients compared with healthy subjects in Salah Al-din governorate-Iraq. Blood samples were taken from (90) patients suffering from hyperlipidemia, and (70) samples that were apparently healthy controls.  Serum lipid concentrations were measured by enzymatic assays. The polymorphism was genotyped using polymerase chain reaction restriction fragment length polymorphism analysis.&n

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Publication Date
Mon Jan 01 2024
Journal Name
Baghdad Science Journal
Molecular Identification of Methylorubrum extorquens using PCR-Amplified MxaF Gene Fragments as A Molecular Marker
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  Methylotrophs bacteria are ubiquitous, and they have the ability to consume single carbon (C1) which makes them biological conversion machines. It is the first study to find facultative methylotrophic bacteria in contaminated soils in Iraq. Conventional PCR was employed to amplify MxaF that encodes methanol dehydrogenase enzyme. DNA templates were extracted from bacteria isolated from five contaminated sites in Basra. The gene specific PCR detected Methylorubrum extorquens as the most dominant species in these environments. The ability of M. extorquens to degrade aliphatic hydrocarbons compound was tested at the laboratory. Within 7 days, gas chromatographic (GC) studies of remaining utilize

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Publication Date
Thu Jun 15 2017
Journal Name
Journal Of Baghdad College Of Dentistry
Dental caries and treatment needs in relation to nutritional status among children with congenital heart disease
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Background: Congenital heart disease is one of the most common developmental anomalies in children. These patients commonly have poor oral health that increase caries risk. Dental management of children with congenital heart disease requires special attention, because of their heightened susceptibility to infectious endocarditis. The aims of this study were to assess the severity of dental caries of primary and permanent teeth and treatment needs in relation to nutritional indicator (Body Mass Index) among children with congenital heart disease. Materials and Methods: In this case-control study, case group consisted of 399 patients aged between 6-12 years old with congenital heart disease were examined for dental status in Ibn Al-Bitar spec

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Publication Date
Wed Nov 01 2023
Journal Name
Journal Of Medicine And Life
Association between <i>CNR1</i> gene polymorphisms and susceptibility to diabetic nephropathy in Iraqi patients with T2DM
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In individuals with type 2 diabetes mellitus (T2DM), the cannabinoid receptor 1 (CNR1) gene polymorphism has been linked to diabetic nephropathy (DN). Different renal disorders, including DN, have been found to alter cannabinoid (CB) receptor expression and activation. This cross-sectional study aimed to investigate the relationship between CNR1 rs1776966256 and rs1243008337 genetic variants and the risk of developing DN in Iraqi patients with T2DM. The study included 100 patients with T2DM, divided into two groups: 50 with DN and 50 without DN. Genotyping of CNR1 rs1776966256 and rs1243008337 polymorphisms was conducted using PCR in DN patients and control samples. The distribution of rs1776966256 and rs1243008337 genotypes and alleles bet

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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
Mon Feb 01 2021
Journal Name
Meta Gene
Association analysis of FTO gene polymorphisms rs9939609 and obesity risk among the adults: A systematic review and meta-analysis
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Publication Date
Sun Oct 01 2006
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Clinical Presentation Of Reitet's Syndrome Among Iraqi Patients
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Background: To shed some light on the clinical features of patients with Reiter's syndrome.
Methods: Reiter's syndrome in 50 patients (38 males and 12 females) was reported in a prospective study. All patients were subjected to detailed history, full clinical assessment and a slit
lamp eye examination by an Ophthalmologist. A Dermatologist opinion was sought when needed and thorough laboratory and radiological investigations were made for all patients.
Results: Reiter's syndrome was post-dysnteric in 44 (88%) of patients and post-venereal in 6 (12%) patients. Its clinical features are similar to other series. Arthritis was noted in all
patients, diarrhea in 44 (88%), eye lesions in 40 (80%) and mucocutaneous le

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