Multiplex PCR for Identifying Dystrophin Gene Deletions

AbstractThe identification of dystrophin as the defective protein in patients with Duchenne and Becker muscular dystrophies (DMD and BMD) has allowed the development of sensitive and specific tests to establish a diagnosis and to aid in genetic counseling and prenatal diagnosis. The describes three complementary multiplex PCR assays that detect 26 dystrophin gene exons. The describes preparation and storage of stock PCR reaction mixes with primers for each of the three diagnostic assays. The is a modification of the for radioactive detection of duplications in males and deletions in carrier females.The identification of dystrophin as the defective protein in patients with Duchenne and Becker muscular dystrophies