Molecular diagnosis of DMD/BMD

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X- linked recessive disorders with the former following a severe and fatal course and the latter a milder clinical profile. Accurate diagnosis of these disorders, therefore, becomes crucial for patient counselling and management. A number of molecular diagnostic criteria for DMD/BMD have evolved with the growth of molecular biology. These include multiplex PCR, southern blot analysis, denaturing gradient-gel electrophoresis, western blot analysis, immunocytochemistry, CA repeat analysis, entangled solution capillary electrophoresis, heteroduplex analysis, single strand conformation electrophoresis and direct sequencing. RNA finger-printing has the potential to lead the present day molecular diagnostics of muscular dystrophies to a new dimension hitherto unexplored.