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

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

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

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

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

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

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,

Congenital toxoplasmosis (CT) and congenital rubella (CR) infections are well-known causes potentially leading to devastating consequences. This report aims to address the prevalence of each of these infections among suspected infants in a pediatric hospital in Baghdad.

The study sample includes 120 blood samples of suspected infants consulting Al-Alwyia pediatric teaching hospital over one year. This report represents an extension of a previous article published in Al-Kindy College Medical Journal KCMJ about cytomegalovirus infection (CMV). Using the enzyme-linked immunosorbent assay (ELISA) method, the results show that 5.8% and 5% were positive for specific IgM antibodies for rubella and toxoplasmosis respectively. Results also

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

Specialized Escherichia coli (E. coli) isolates, called uropathogenic E. coli (UPEC), cause most of urinary tract infections (UITs). Once bacteria reached the urinary tract of the host, they have to adhere to the host cell for the colonization. For this purpose, bacteria have different structures including fimbrial adhesins. Most of the UPECs contain type 1 fimbriae encoded by fim operon (fimB, E, A, I, C, D, F, G, H) which is responsible for the adhesive ability in these isolates. Ninety-four isolates of UPEC were obtained from UTI patients in Baghdad hospitals and their diagnosis were confirmed by the PCR method using 16srDNA as a housekeeping gene. The UPEC isolates were tested for their ability of adherence to the urothelial cells obtai