THE CLINICAL AND MOLECULAR-GENETIC APPROACH TO DUCHENNE AND BECKER MUSCULAR-DYSTROPHY - AN UPDATED PROTOCOL

Detection of large rearrangements in the dystrophin gene in Duchenne a nd Becker muscular dystrophy is possible in about 65-70% of patients b y Southern blotting or multiplex PCR. Subsequently, carrier detection is possible by assessing the intensity of relevant bands, but preferab ly by a non-quantitative test method. Detection of microlesions in Duc henne and Decker muscular dystrophy is currently under way. Single str and conformational analysis, heteroduplex analysis, and the protein tr uncation test are mostly used for this purpose. In this paper we revie w the available methods for detection of large and small mutations in patients and in carriers and propose a systematic approach for genetic analysis and genetic counselling of DMD and BMD families, including p renatal and preimplantation diagnosis.