Annals of Indian Academy of Neurology

Year
: 2003  |  Volume : 6  |  Issue : 4  |  Page : 281--285

Deletion Analysis Of The Duchenne/Becker Muscular Dystrophy Gene Using Multiplex Polymerase Chain Reaction


R Dastur1, P Gaitonde2, S Khadilkar3, J Nadkarni4 
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Correspondence Address:
R Dastur


The diagnosis of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) is mainly based on clinical profile, serum CPK values, muscle biopsy and immunostaining for dystrophin. Most recent and accurate method for diagnosing DMD/BMD is by detection of mutations in the DMD gene. This was done in 100 unrelated patients using 19 exons including the promoter region in two sets of multiplex polymerase chain reaction (PCR). These primers amplify most of the exons in the deletion prone «SQ»hotspot«SQ» regions allowing determination of deletion end point. Intragenic deletions were detected in 74 patients indicating that the use of PCR-based assays will allow deletion detection help in prenatal diagnosis for most of the DMD/BMD patients. The frequency of deletions observed in the present study was 74%.


How to cite this article:
Dastur R, Gaitonde P, Khadilkar S, Nadkarni J. Deletion Analysis Of The Duchenne/Becker Muscular Dystrophy Gene Using Multiplex Polymerase Chain Reaction.Ann Indian Acad Neurol 2003;6:281-285


How to cite this URL:
Dastur R, Gaitonde P, Khadilkar S, Nadkarni J. Deletion Analysis Of The Duchenne/Becker Muscular Dystrophy Gene Using Multiplex Polymerase Chain Reaction. Ann Indian Acad Neurol [serial online] 2003 [cited 2022 Sep 26 ];6:281-285
Available from: https://www.annalsofian.org/article.asp?issn=0972-2327;year=2003;volume=6;issue=4;spage=281;epage=285;aulast=Dastur;type=0