Document Details

Document Type : Thesis 
Document Title :
Multiple Ligation Probe Assay for Complete analysis of deletion mutation in the Duchenne Muscular Dystrophy
الفحص الرابط المتعدد الباحث للفحص التحليلي الكامل عن الطفرات المحذوفة في جين النمو العضلي الشاذ دوشان
 
Subject : Biochemistry department 
Document Language : Arabic 
Abstract : Duchenne Muscular Dystrophy (DMD) is an X-linked recessive fatal disorder caused mainly by deletions and to a lesser extent duplications and point mutations in the DMD gene. It is the largest gene known to date comprising of 79 exons. In this study, we analyzed a total of 35 subjects comprising of 11 clinically diagnosed DMD patients including 9 probands and 24 immediate family members. A multiplex PCR (mPCR) based assay was initially utilized to screen for 26 exonic deletions in the two 'hot spot' regions of the DMD gene. Multiplex-PCR method detected deletions in 6/11 patients (54.54%), 17.14 % (6/35) patients and family members they were all clustered in the major 'hotspot'of the DMD gene. However, due to the limitation of this qualitative assay an alternative Multiple Ligation dependent Probe Amplification (MLPA) assay was established. A rapid, screening method based upon a unique combination of exon specific primers and subsequent ligation of fluorescent probes that ligate to produce a fragment specific peak. MLPA detected deletions in 68.57% (24/35) of the samples.We showed that MLPA was not only reproducible but due to its robustness, it was able to detect carrier status in phenotypically normal females where the abnormal X- chromosome is veiled by normal X amplification. A deletion rate of (22/35. 62%) and a duplications rate of (12/35, 34.2%) of the DMD gene resulted in this study. This feature provided a major advantage to MLPA to be utilized as a confirmatory genetic test for deletion/ duplication mutations in DMD patients as well as detect carrier mothers and daughters opening doors for prenatal testing and family counseling. 
Supervisor : Prof Jalal-Aldin Azam Awlia 
Thesis Type : Master Thesis 
Publishing Year : 1433 AH
2011 AD 
Co-Supervisor : Dr. Adeel Gulzar Choudhary 
Added Date : Wednesday, December 21, 2011 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
رؤى محمد بكريBakri, Rua MohammadResearcherMaster 

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