Preferred Language
Articles
/
dhdJzZIBVTCNdQwCScBM
Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
...Show More Authors

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.

Scopus
View Publication
Publication Date
Mon Jul 19 2021
Journal Name
Challenges In Disease And Health Research Vol. 10
Molecular Analysis of CYP21A2 Gene Mutations among Congenital Adrenal Hyperplasia Patients in Iraq
...Show More Authors

View Publication
Crossref (1)
Crossref
Publication Date
Tue May 11 2021
Journal Name
Egyptian Journal Of Medical Human Genetics
Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
...Show More Authors
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 pa

... Show More
View Publication
Scopus (3)
Crossref (3)
Scopus Clarivate Crossref
Publication Date
Mon Nov 14 2022
Journal Name
Biomedicine
Molecular characterization of HBB gene mutations in beta-thalassemia patients of Southern Iraq
...Show More Authors

Introduction and Aim: Beta-thalassemia is a serious inherited genetic disorder and an increasing health burden globally. Beta -thalassemia is caused by genetic globin abnormalities within the hemoglobin beta (HBB) gene. This study aimed to characterize the HBB gene mutations in beta -thalassemia among southern Iraqi patients. Materials and Methods: The study included 30 beta -thalassemia patients referred to the Thi-Qar Center for Genetic Diseases, Iraq and 15 control samples from a random group of apparently healthy individuals. Genomic DNA was isolated from blood sample collected from each individual. The DNA was amplified for specific regions of the HBB gene and the amplified products sequenced. The sequences generated were analysed for

... Show More
View Publication Preview PDF
Scopus (9)
Crossref (2)
Scopus Crossref
Publication Date
Mon Aug 01 2022
Journal Name
Baghdad Science Journal
The Association of Prothrombin Gene Mutations and Cytomegalovirus Infection with Abortion Among Iraqi Women
...Show More Authors

Abortion is categorized as the termination of conception caused by the failure or removal of the embryo from the uterus before the conclusion of pregnancy. Microorganisms and genetic factors are two of the many factors associated with abortion. Cytomegalovirus is a widespread congenital virus infection pathogen that affects a wide variety of people. The prothrombin gene is one of the essential causes that trigger blood clotting and the function of abortion women, therefore the aim of the study is to detect and associate Cytomegalovirus and prothrombin gene mutation (Gene ID: 14061 in NCBI) with abortion through genetic and immunological methods. Five ml of whole blood was collected from an intravenous puncture and divided into two tubes,

... Show More
View Publication Preview PDF
Scopus (2)
Scopus Clarivate Crossref
Publication Date
Sun May 10 2020
Journal Name
Baghdad Science Journal
Molecular Analysis of Rifampicin Resistance Conferring Mutations in Mycobacterium tuberculosis
...Show More Authors

Mycobacterium tuberculosis resistance to rifampicin is mainly mediated through mutations in the rpoB gene. The effects of rpoB mutations are relieved by secondary mutations in rpoA or rpoC genes. This study aims to identify mutations in rpoB, rpoA, and rpoC genes of Mycobacterium tuberculosis isolates and clarify their contribution to rifampicin resistance. Seventy isolates were identified by acid-fast bacilli smear, Genexpert assay, and growth on Lowenstein Jensen medium. Drug susceptibility, testing was performed by the proportional method.  DNA extraction, PCR, and sequencing were accomplished for the entire rpoA, rpoB, and

... Show More
View Publication Preview PDF
Scopus (2)
Crossref (2)
Scopus Clarivate Crossref
Publication Date
Wed Mar 01 2017
Journal Name
The Iraqi Postgraduate Medical Journal
The Frequency and Spectrum of K-ras Mutations among Iraqi Patients with Sporadic Colorectal Carcinoma (CRC)
...Show More Authors

BACKGROUND: CRC is one of the most common cancers in the world. K-ras is proto-oncogene with GTPase activity that is lost when the gene is mutated. Analysis of K-ras mutational status is very important for CRC treatment, being the most important predictors of resistance to targeted therapy. OBJECTIVE: This study aims to determine the frequency and spectrum of K-ras mutation among Iraqi patients with sporadic CRC. PATIENTS, MATERIALS AND METHODS: This study enrolled 35 cases with sporadic CRC; their clinicopathological parameters were analyzed. The FFPE blocks were used for DNA extraction; PCR amplification of K-ras gene and hybridization of allele-specific oligoprobes were performed. The assay covers 29 mutations in the K-ras gene (codons 1

... Show More
Preview PDF
Publication Date
Fri Mar 12 2021
Journal Name
Medico Legal Update
Characterization of NPM1 and FLT3-ITD Mutations in Iraqi Patients with AML
...Show More Authors

Acute myeloid leukemia is a malignant disease results from mutation in a multipotent haemopoietic stemcell. The study aimed to investigate NPM1 and FLT3-ITD mutations in Iraqi patients with AML and correlateresults with other clinical and laboratory findings. Fifty-eight AML patients, admitted to Baghdad TeachingHospital from October 2019 till March 2020 in addition to 25 normal controls, were included in the study.A detailed history, laboratory investigations including FLT3-ITD and NPM1 mutations were collected fromand analyzed. FLT3-ITD was detected in 17.24% of patients, NPM1 mutation in 10.34%. Most of thepatients are presented with pallor. FLT3-ITD mutation had a higher blast cell count (74%) while NPM1mutation had higher WBCs

... Show More
View Publication
Crossref
Publication Date
Fri Jun 01 2018
Journal Name
International Journal Of Health Sciences
Molecular assessment of some cardiovascular genetic risk factors among Iraqi patients with ischemic heart diseases
...Show More Authors

Abstract Objective: The underlying molecular basis of ischemic heart diseases (IHDs) has not yet been studied among Iraqi people. This study determined the frequency and types of some cardiovascular genetic risk factors among Iraqi patients with IHDs. Methods: This is a cross-sectional study recruiting 56 patients with acute IHD during a 2-month period excluding patients >50 years and patients with documented hyperlipidemia. Their ages ranged between 18 and 50 years; males were 54 and females were only 2. Peripheral blood samples were aspirated from all patients for troponin I and DNA testing. Molecular analysis to detect 12 common cardiovascular genetic risk factors using CVD StripAssay® (ViennaLab Diagnostics GmbH, Austria) was performed

... Show More
View Publication
Publication Date
Sun Dec 01 2013
Journal Name
Baghdad Science Journal
Estimation of Testosterone, Estradiol and some Markers in Sera of Iraqi Patients with Benign Prostatic Hyperplasia.
...Show More Authors

Benign prostatic hyperplasia (BPH) is one of the most common disease and major cause of morbidity in elderly men which may lead to bladder outflow obstruction and lower urinary tract symptoms (LUTS). Although sex steroid hormones play fundamental roles in prostate growth, their clinical significance is not completely clear. In the present study we assessed whether serum hormones levels as markers of prostate disease. This study includes (40) patients with benign prostatic hypertrophy and (40) control group with age rang (41-79) and (42-71) years respectively. The following biochemical investigations have been studied: Testosterone, Estradiol (E2), and Prostatic Specific Antigen (PSA) levels using ELISA method which correlated with t

... Show More
View Publication Preview PDF
Crossref (1)
Crossref
Publication Date
Tue Sep 30 2014
Journal Name
J Clin Biomed Sci
Detection of EGFR Mutations in Bronchial Wash from Iraqi patients with nonsmall Cell Lung Cancer (NSCLC)
...Show More Authors

Background: Non-small cell lung cancer (NSCLC) is caused of 85% of all lung cancers. Among the most important factors for lung tumor growth and proliferation are the tyrosine kinase receptors that coded by the epidermal growth factor recep-tor (EGFR) gene. Activation of EGFR ultimately leads to developing of lung cancer. The present study was undertaken with an objective to detect EGFR mutations in bronchial wash from Iraqi patients with NSCLC before treatment. Methods: DNA was extracted from bronchial wash samples collected from 50 patients with NSCLC by using a Qiamp DNA Mini Kit (Qiagen, Hilden, Germany). Then, EGFR mutations were determined by using real-time RCR combined with two technologies, Amplification Refractory Mutation System (

... Show More
Preview PDF