Detection of extensive deletions and duplications in the dystrophin gene

Abstract Dystrophin is a cytoskeletal protein, defects of which results in Duchenne or Becker muscular dystrophy (DMD or BMD). About 70% of all DMD and BMD cases is caused by large deletions and duplications in the dystrophin gene. Therefore, their detection at the DNA and mRNA level is the analysis of the first choice which is undergone by our patients at the molecular level. Methods which have been introduced in our laboratory for this purpose-multiplex PCR and RT-PCR-are subject of this communication.