Document Details

Document Type : Article In Journal 
Document Title :
Mutation analysis in Saudi Duchenne and Becker muscular dystrophy patients using multiplex PCR..
تحليل الطفرة الجينية في متلازمة دوشين وبيكر للضمور العضلي باستخدام PCR
 
Subject : Genetic disorders 
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 multiplexPCR 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. Key words: dystrophin, Saudi DMD, BMD, deletions, multiplex PCR, DMD gene. 
ISSN : 3189-4528 
Journal Name : Arch Med Sci 
Volume : 4 
Issue Number : 1 
Publishing Year : 1430 AH
2008 AD 
Article Type : Article 
Added Date : Friday, February 12, 2010 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
عديل شودريChaudhary, Adeel ResearcherDoctorate 
محمد القحطانيAlqahtani, Mohammed ResearcherDoctorate 
عادل أبو زنادةAbuzenadah, Adel ResearcherDoctorate 
ممدوح قاريGari, Mamdooh ResearcherDoctorate 
عبير السفيانيAl-Sofyani, Abeer ResearcherDoctorate 
جمانة يوسف الأعمىAL- Aama, Jumana YResearcherDoctoratejalama@kau.edu.sa
ساهرة لاريLary, Sahira ResearcherDoctorate 
عايشة العليميElaimi, Aisha ResearcherDoctorate 

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