Pulsed Field Gel Electrophoresis for Detection of Gene Rearrangements in Duchenne Muscular Dystrophy

Abstract

In diseases with a high new mutation rate, such as Duchenne and Becker muscular dystrophy (DMD, BMD), linkage analysis often produces highly unsatisfactory results for carrier diagnosis compared to methods that rely on the direct detection of the mutation. The size of the dystrophin gene and the nature of mutations at this locus that give rise to DMD/BMD make pulsed field gel electrophoresis (PFGE) an appropriate and powerful technique for detection of mutations and hence accurate carrier diagnosis in these diseases.