Diagnosis of DMD/BMD by Multiplex PCR and Southern Blot Analysis / 대한산부인과학회잡지

Duchene and Becker muscular dystrophy(DMD/BMD) results from mutations in thedystrophin gene, and enormous genetic locus that spans more than two million base paris ofDNA on the human X chromosome. Some 60% of DMD patients exhibit deletions, which canbe found by cDNA hybridization or, were recently, by polymerase chain reaction analysis.We have used the multiplex PCR to identify deletion mutations in the human dystrophingene. By simultaneously amplifying genomic regions flanking 17 sepastrate exons inmutational hot spots, we were able to detect 16 exons in one family. The DNA encoding eachof the 17 exons in the dystrophin gene is copied a million fold to make it visible in anagarose gel. To be certain that the missing band is not artifact of the amplificationprocedure, the DNA from the blood sample was analyzed by Southern hybridization.