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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
Wed Oct 28 2020
Journal Name
Iraqi Journal Of Science
Molecular Study of Regulatory Gene (Ler) in Enteropathogenic Escherichia Coli (EPEC) of Diarrheagenic Patients
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The locus of enterocyte effacement LEE-encoded regulator (Ler( is a global regulator of multiple virulence genes expression in the Enteropathogenic Escherichia coli (EPEC), including those encoding the type III secretion pathway and adhesion proteins such as intimin. Ler is central to the process of the formation of the attaching and effacing (AE) lesions. This study aimed to perform the molecular detection of Ler gene in EPEC, since there is no related previous study in Iraq. Two hundred and fifty stool specimens from children under two years of age for both sexes were collected from some Iraqi hospitals. All isolates were diagnosed according to morphological characteristics and biochemical tests. The results showed th

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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
Wed Jul 01 2009
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Molecular Detection and Genotyping of Human Papilloma Virus Infections in Iraqi Patients with Esophageal Carcinoma.
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Background: Molecular DNA hybridization has confirmed more than 120 different human papilloma virus (HPV) genotypes. A small group of them have high- risk oncogenic potential. Many studies have described an association of such high risk-HPV genotypes with a variety of esophageal benign tumors as well as malignant squamous cell carcinomas.
Patients and Methods: A total number of 90 tissue specimens were collected from 50 patients with esophageal squamous cell (SCC), adenocarcinoma (AC) and carcinoma in situ (CIS); 20 patients with squamous acanthosis (SA); and 20 individuals with apparently-healthy esophageal tissues (AHET). The molecular detection methods for HPV detection and genotyping were performed by in s

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Publication Date
Fri Jun 30 2023
Journal Name
Iraqi Journal Of Science
Expression of Protamine-1 Gene and Association with Interleukin-12 gene in Infertile Men: A Case-Control Study in Iraqi Patients
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     Approximately 15% of all couples all over the world suffer from difficulty conceiving their first child. The word "infertility" is used to describe this problem.

When a couple had  regular, unprotected sexual intercourse for a year or longer, it indicates that they have been unsuccessful in their efforts to conceive.

      The current investigation aims to find out if there is a relationship between PROTAMIN-1(PRM-1) and INTERLEUKINE-12 (IL-12) gene expressions and their effect on the development of infertility. The current investigation comprised 100 teratozoospermia patients and 100 healthy fertile controls who had their semen examined. Samples were given by Al-Nahrain University's Biotech

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Publication Date
Sun Jul 30 2023
Journal Name
Iraqi Journal Of Science
Prevalence of Methicillin-resistant Staphylococcus aureus Carrying lukS-lukF Gene in Iraqi Patients with Furunculosis
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     In this study, Staphylococcus aureus was found to be the causative agent of furunculosis in 64 (27.5%) out of 233 Iraqi patients presented with furunculosis. 16SrRNA gene was located in all isolates. Nevertheless, mecA and lukS-lukF genes were located in 60% and 4% of S. aureus isolates, respectively. Interestingly, the lukS-lukF carrying S. aureus isolates were mecA positive as well.

 

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Publication Date
Wed Jan 20 2021
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Sera Level and Polymorphism of Interleukin-33 Gene in Iraqi Females Patients with Breast Cancer
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Interleukin-33 [IL-33] is a specific ligand for the ST2 receptor, and a member of the
IL-1 family. It is a dual-function protein that acts both as an extracellular alarmin cytokine,
and an as an intracellular nuclear factor participates in maintaining barrier function by
regulating gene expression of IL-33 modulating tumor growth and anti-tumor immunity in
cancer patients. The present study aimed to investigate the role of IL-33 serum level and gene
polymorphism in Iraqi women with breast cancer. Materials and methods: Blood samples
were collected from 66 Iraqi patient women diagnosed with breast cancer, which were divided
into two groups: pre-treatment [PT] and under treatment with chemotherapy [UTC] patients in

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Publication Date
Fri Jul 01 2022
Journal Name
Iraqi Journal Of Science
Genetic Polymorphisms of Interleukin -1 beta Gene in Association with Multiple Sclerosis in Iraqi Patients
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Interleukin-1 β (IL-1 β) is considered to be one of the most important mediators in the pathogenesis of inflammatory diseases, particularly in neurodegenerative diseases such as multiple sclerosis (MS). MS is a chronic inflammatory disease characterized with demyelination in central nervous system (CNS). There was believe that single nucleotide polymorphisms (SNPs) in IL-1β gene can alter the structure and function of the IL-1β and consequently may have play role in MS disease. In this this study the IL-1β gene polymorphism (rs16944, rs1143634) and their association with MS in Iraqi patients were investigated. Two SNPs including IL-1β-511 (rs16944) in promoter and IL-1B+3962 (rs1143634) in encoding region, were studied using Polyme

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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
Wed Apr 01 2020
Journal Name
Malaysian Journal Of Biochemistry And Molecular Biology
Mutations in ergosterol 11 gene of fluconazol resistant candida albicans isolated from different clinical samples
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Fluconazole was used to test the susceptibility of Candida albicans isolated from different clinical samples, and to detect mutations in ERG11 gene, and their relationship to fluconazole resistance. Forty-eight isolates of Candida albicans were tested for susceptibility using the disc diffusion method (M-44). ERG11 genes of six isolates were amplified (four resistant, two susceptible) and sequenced. The sequenced genes were analyzed to detect the mutations. Out of 48 isolates of Candida albicans, 4 (8%) were resistant to fluconazole. Sixteen-point mutations were detected included 13 silent mutations, and three missense mutations. The mutations of A945C (E266D) and G1609A (V488I) were found only in susceptible Candida albicans isolates, whil

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