DETECTION OF DYSTROPHIN DELETION CARRIERS USING FISH ANALYSIS

The detection of carrier status in female relatives of Duchenne/Becker muscular dystrophy patients is not always possible and this poses a p roblem in genetic counseling. We have developed a simple method that c an be used in families in which affected males are characterized by th e presence of a deletion within the dystrophin gene. PCR fragments, co rresponding to the deleted regions are used as fluorescent probes for hybridization of peripheral lymphocytes nuclei of female relatives. Th e results obtained clearly demonstrate the feasibility of this method for detecting female DMD/BMD carriers.