Infertility is a disease of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse. Worldwide, infertility affects approximately 15% of all couples trying to conceive. Male infertility is responsible for about 50% of the infertility cases. Chromosomal abnormalities and Y-chromosome microdeletions are the most common genetic causes of male infertility. Klinefelter syndrome (KS) is the most prevalent factor of the chromosomal abnormality in the infertile male. Azoospermia Factor (AZF) microdeletions located on the Y chromosome are one of the recurrent genetic cause of male infertility. This study aims to investigate the prevalence of chromosomal anoma

Background: The present article is concerned within the scope of Forensic Medicine, specifically Forensic Genetics. The case was taken care of in the Genetic-Molecular Laboratory of the Odessa Regional Bureau of Forensic-Medical Examinations, in Ukraine, during January and February of 2014.
Objectives: The aim of our work was to identify an unknown person, using the techniques: Y-chromosome markers and mitochondrial DNA typing.
Materials and methods: The materials available for our procedure were: pieces of tissue in paraffin blocks, saved from the corpse of the unknown person; blood from a living male subject, who claimed to be the grandfather, and from two females, allegedly the sisters. From all of them we extracted nuclear DNA

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

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

    Multiple sclerosis (MS) is a neuro-inflammatory disorder in which the Epstein-Barr virus (EBV) is proposed to have a pathogenic role. Therefore, a case-control study was performed (93 patients with relapsing-remitting MS and 113 healthy controls (HC) to analyze the prevalence and viral load of EBV infection using real time-polymerase chain reaction. Prevalence of EBV infection was lower in patients compared to HC but the difference was not significant (12.9 vs. 21.2%; probability [p] = 0.187). EBV-positive MS cases were more common in females than in males (83.3 vs. 16.7%), while an opposite distribution was observed in HC (37.5 vs. 62.5%), and the difference was significant (p = 0.041). Blood group O frequency was higher in EBV-p

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: Breast cancer is a complex, multifaceted disease encompassing a great variety of entities that show considerable variation in clinical, morphological and molecular attributes.
Objective: The aim of this study to evaluate patients’ molecular profile (Estrogen receptor, Progesterone receptor, HER2/neu and Ki-67).
Patients & Methods: This is a cross-sectional descriptive study was done in Baghdad oncology teaching hospital from December 2015 to April 2016, carried on 100 breast cancer female patients with their age range from 27 to 73 years old and with their histopathology reports and (IHC) results.
Results: The highest incidence of breast cancer among patients in 5th (40-49 years) and 6th (50-59 years) decades o

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