Main Page
Faculty Deanship
Dean
Health Empowerment Unit
Strategic Planning Unit
Development and Quality Unit
Medical and Bioethics Unit
Vice Dean for Graduate Studies and Research
Vice Dean for Female Section
Vice dean for Academic Affairs
Examination and Assessment Unit
Internship and Alumni Unit
Student Research Unit
E-learning Unit
Student Mentoring and Support Unit
Community Service Unit
Talent and Creativity Care Unit
Continuing Education Unit
Neuroscience Research Unit
Vice Deanship of Clinical Affairs / Administration
Organizational Structure
Departments
Basic Sciences
Department of Anatomy
Department of Pharmacology
Department of Pathology
Department of Microbiology and Medical Parasitolog
Deparment of Clinical Biochemistry
Department of Physiology
Department of Medical Genetics
Clinical Sciences
Department of Otorhinolaryngology
Department of Obstetrics and Gynecology
Department of Hematology
Department of Medical Education
Department of Anesthesia
Department of Family Medicine
Department of Community Medicine
Department of Surgery
Department of Orthopedic Surgery
Department of ophthalmology
Department of Radiology
Department of Internal Medicine
Department of Pediatrics
Department of Emergency Medicine
Department of Urology
Department of Dermatology
Latest News
عربي
English
About
Admission
Academic
Research and Innovations
University Life
E-Services
Search
Faculty of Medicine
Document Details
Document Type
:
Article In Journal
Document Title
:
Mutation analysis in Saudi Duchenne and Becker muscular dystrophy patients using multiplex PCR
Mutation analysis in Saudi Duchenne and Becker muscular dystrophy patients using multiplex PCR
Document Language
:
English
Abstract
:
Introduction: In Saudi Arabia, only limited work has been reported on the mutation patterns of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). This study looks at the spectrum of deletions in the hot spot regions of the DMD gene in Saudi DMD/BMD patients using an enhanced multiplex PCR technique. Material and methods: Twenty-six exons of the DMD gene were analyzed, in eight unrelated DMD/BMD cases aged 4-19 years, using four different multiplex PCR sets. Each multiplex PCR set amplified a total of six or seven exons. Normal controls were included for validation. Results: Using an optimized multiplex PCR method, 5 out of 8 DMD/BMD patients showed deletions, while the remaining three had no deletions in regions analyzed. Set 1 detected no deletions in any of the patients, whereas each of sets 2, 3 and 4 detected two, four and three deletions respectively. All of these mutations were located in the distal ‘hot spot’ region. No deletions were detected in the proximal ‘hot spot’ region. The normal control samples showed no deletions in any of the 26 exons tested. Conclusions: In this study, multiplex PCR technology was utilized to demonstrate the frequency of the most commonly found deletions in a limited group of Saudi DMD/BMD patients. The overall distribution of deletion mutations in the distal ‘hot spot’ region was in accordance with DMD/BMD cases investigated elsewhere. The study also serves as a good starting point for further investigations into the genetic aspects of the Saudi DMD/BMD population
ISSN
:
1734-1922
Journal Name
:
Archives of Medical Science
Volume
:
4
Issue Number
:
1
Publishing Year
:
1429 AH
2008 AD
Article Type
:
Article
Added Date
:
Sunday, May 4, 2008
Researchers
Researcher Name (Arabic)
Researcher Name (English)
Researcher Type
Dr Grade
Email
جمانة الأعمى
Al-Aaama, Jumana
Researcher
Doctorate
Files
File Name
Type
Description
Mutation analysis in Saudi Duchenne and Becker.pdf
pdf
مشاهدة المقالة العلمية كاملة
Back To Researches Page