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

Background:

Background: Congenital adrenal hyperplasia is a family of autosomal recessive disorders of cortisol biosynthesis. Depending on the enzymatic step that is deficient, there may be signs, symptoms, and laboratory findings of mineralocorticoid deficiency or excess; incomplete virilization or premature puberty in affected males; and virilization or sexual infantilism in affected females. The most frequent is 21-hydroxylase enzyme deficiency, accounting for more than 90% of cases.
Objectives: to review cases of congenital adrenal hyperplasia registered in children welfare teaching hospital- medical city- Baghdad.
Patients and method: This study included all patients who were presented and registered in the e

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

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,

This study was aimed to detect and identify genetic mutations in γ-aminobutyric acid receptor β3 subunit encoding gene (GABRB3) and its association with autism spectrum disorders. Forty autistic patients and 25 non-autistic as control group (5 unaffected sibling and 20 unrelated) with age range from 3 – 10 years were included in this study. Chromosomal DNA was extracted from blood samples followed by polymerase chain reaction (PCR) amplification of two targeted regions which include: (exon2-intron2-exon3) region and (exon 6) region of GABRB3 for subsequent DNA sequencing. Identical bands related to the targeted regions were present in all samples. A sample of PCR products of patients and controls were sequenced. Sequencing results re

The present study included a collecting of 165 specimens form different sources,
93 isolates were identified as Escherichia coli depending on morphological and
biochemical tests in addition to automated systems such as VITEK 2 and api 20E.
All isolates under study developed high resistance toward cefotaxime, ceftazidime,
ceftriaxone, and ciprofloxacin estimated by minimum inhibitory concentration. Stool
and wound specimens characterized by harbouring the highest resistant isolates in a
percentage reached 100% against antibiotics under study. Insignificant differences
were found between isolates collected from males and females. Upon using disk
displacement method to detect extended spectrum beta lactamases (ESBL),

Background: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibers.  This study concentrate mainly at the spectrum of deletions in the 'distal hot spot' region of the DMD/BMD gene in Iraqi DMD/BMD patients using multiplex PCR technique

Objectives: The aim of this study was to investigate the rate, and distribution of deletions in 10 exons of Dystrophin

Background: