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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
Fri May 11 2018
Journal Name
Biomedical And Pharmacology Journal
Molecular and Phylogenetic Analysis of Human Papillomavirus Using L1 Gene in Oral Squamous Cell Carcinoma Patients in Baghdad, Iraq
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Oral squamous cell carcinoma (OSCC) is the most common malignant neoplasm of the oral mucosa. Human papillomavirus (HPV) virus cause a broad scope of diseases from benign to invasive tumors, types 16 and 18 classified as carcinogenic to humans. This study aimed to provide the first molecular characterization of HPV types in Iraq. Thirty-five unstimulated whole saliva samples were collected from histopathologically confirmed patients with oral cancer were enrolled in this study. Genomic DNA was extracted from exfoliating cells to amplify HPV-DNA using HPV-L1 gene sequence primers by polymerase chain reaction method (PCR), the viral genotyping was performed using direct sequencing method. HPV genotypes identified were deposited in Gen

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Publication Date
Fri May 11 2018
Journal Name
Biomedical And Pharmacology Journal
Molecular and Phylogenetic Analysis of Human Papillomavirus Using L1 Gene in Oral Squamous Cell Carcinoma Patients in Baghdad, Iraq
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Oral squamous cell carcinoma (OSCC) is the most common malignant neoplasm of the oral mucosa. Human papillomavirus (HPV) virus cause a broad scope of diseases from benign to invasive tumors, types 16 and 18 classified as carcinogenic to humans. This study aimed to provide the first molecular characterization of HPV types in Iraq. Thirty-five unstimulated whole saliva samples were collected from histopathologically confirmed patients with oral cancer were enrolled in this study. Genomic DNA was extracted from exfoliating cells to amplify HPV-DNA using HPV-L1 gene sequence primers by polymerase chain reaction method (PCR), the viral genotyping was performed using direct sequencing method. HPV genotypes identified were deposited in Gen

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Publication Date
Sat Apr 01 2023
Journal Name
Journal Of Applied Hematology
Molecular Alterations in IDH 1/2 Genes among Iraqi Adult Acute Myeloid Leukemia Patients
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BACKGROUND:

The recurrent somatic variations in IDH1/2 genes in AML play imperative roles in epigenetic dysregulation and the pathogenesis of AML, which could be useful prognostic markers for risk stratification.

AIM:

The aim of the study was to detect the frequency of R132 mutations in the IDH1 gene and R140Q mutation in the IDH2 gene with their treatment outcomes.

PATIENTS
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Publication Date
Fri Jan 19 2024
Journal Name
Baghdad Science Journal
GRHPR gene variations in Iraqi patients infected with calcium oxalate kidney stones
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      The alterations in glyoxylate reductase and hydroxy-pyruvate reductase concentrations in the sera and the genetic alterations associated with calcium oxalate kidney stones in Iraqi patients were not studied previously so this study aimed to focus on these points. This study included 80 subjects; they were 50 patients with calcium oxalate stones compared to 30 apparently healthy controls. Biochemical investigations for kidney functions (creatinine, urea, and uric acid), were performed on the sera of both groups. Also, complete blood count, random blood sugar, and blood group tests. Furthermore, urine had been collected for General Urine Examination to visualize oxalate crystals in the urine of the patient. Also, the GRHPR

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Publication Date
Sun Jul 01 2018
Journal Name
The Iraqi Postgraduate Medical Journal
Molecular and Serologic Detection of HLA-B27 among Ankylosing Spondylitis Patients with Some Clinical Correlations
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BACKGROUND: HLA-B27 can effect clinical presentation and course of ankylosing spondylitis. Different detection techniques of HLA-B27 are available with variable sensitivities and specificities. OBJECTIVE: To compare serologic and molecular diagnostic techniques of detecting HLA-B27 status and to correlate it with some clinical variables among ankylosing spondylitis patients. PATIENTS AND METHODS: A cross-sectional study was conducted on 83 Iraqi patients with ankylosing spondylitis. Clinical and laboratory evaluations were reported. HLA-B27 status was determined in all patients by real-time PCR using HLA-B27 RealFast™ kit; ELISA method was used as well to detect soluble serum HLA-B27 antigens using Human Leukocyte Antigen® kit. RESULTS:

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Publication Date
Sun Sep 20 2020
Journal Name
Biochemical And Cellular Archives
MOLECULAR INVESTIGATION OF EPSTEIN-BARR VIRUS IN IRAQI PATIENTS WITH CHRONIC LYMPHOCYTIC LEUKEMIA
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Chronic lymphocytic leukemia (CLL) is one type of leukemia that arises from lymphocytes' progenitor cell in the Bone marrow, it affects individuals over the age of 50 years in both genders. In Iraq, leukemia affected 1532 (847 males and 683 females) according to the latest announced statistics of the Iraqi Cancer Registry Center in 2012. Chronic lymphocytic leukemia may occur due to several genetic causes, such as chromosomal aberrations and gene mutations, or exposure to carcinogens and mutagens (radiation, chemicals, and oncogenic viruses). The most famous virus is the Epstein-Barr virus (EBV), which is a gamma herpesvirus that infects more than 90% of individuals. Its infection is mostly a latent infection, and EBV remains latent in memo

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Publication Date
Tue Jun 30 2015
Journal Name
Al-kindy College Medical Journal
Gene frequency and haplotype analysis of HLA class I in patients with simple renal cysts
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Background: The study of human leukocytes (HLA) alleles, and haplotype frequencies within populations provide an important source of information for anthropological investigation, organ and hematopoietic stem cell transplantation as well as disease association, certain diseases showed association with specific alleles specially those of known or suspected hereditary origin or immunological basis, whether simple renal cyst is congenital or acquired is still unclear and need to be investigated.Objectives: To study the genetic aspect of simple renal cysts by detecting the gene frequency and the haplotype of HLA class I of patients with simple renal cysts, and to find the presence of these cysts in other family members.Method: Thirty patient

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Publication Date
Thu Nov 16 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Evaluating TLR4 Gene Expression to Monitor Disease Progression in Iraqi Patients with Rheumatoid Arthritis
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Background: Toll-like receptors (TLRs) play a significant role in the activation of adaptive immunity and may have an essential role in the development of rheumatoid arthritis (RA). Objectives: To assess the gene expression of TLR4 in individuals with RA compared to healthy individuals. Methods: From July to December 2022. A total of 100 individuals were encompassed in the study, consisting of 50 individuals diagnosed with RA, of whom 42 were females and 8 were males, with an average age of 45.22 years. Additionally, there were 50 healthy control participants, 40 of whom were females and 10 were males, with an average age of 45.64 years. To assess the TLR4 transcript levels, blood samples were collected from each participant, and RN

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Publication Date
Sun Oct 31 2021
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn: 2789-3219 )
Evaluation of EOS Gene Expression and IL-6 Serum Levels in Iraqi Patients with Psoriasis
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Background: EOS (encoded by the IKZF4 gene) is a member of the zinc finger transcription factor IKaros family, and plays a critical role in Treg suppressor functions, and maintaining Treg stability. IL-6 is a soluble mediator with a pleiotropic effect on inflammation, immune response, and hematopoiesis. Aim: To estimate serum IL-6 level and EOS gene expression in Iraqi patients with psoriasis. Method: Twenty-two patients with psoriasis (8 females, 14 males) with age ranged 18-72 years, were recruited from Baghdad Teaching Hospital, Dermatology Clinic, Baghdad, and 24 healthy donors. The serum levels of IL-6 by ELISA and the gene expression of IKZF4 (EOS gene) by RT-qPCR technique. Results: The results showed a non-significant diffe

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Publication Date
Thu Aug 14 2025
Journal Name
International Journal Of Latest Technology In Engineering, Management & Applied Science (ijltemas)
Temporal Trend of Congenital Heart Diseases in Iraqi Patients: An Analytic Study from Two Cardiac Institutions
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