DMD gene defection analysis in 135 patients with Duchenne muscular dystrophy / 基础医学与临床

ABSTRACT

Objective Deletion detection of Duchenne muscular dystrophy(DMD).Methods Totally 135 patients were tested through polymerase reaction of amplification with 12 dystrophin exons,polyacrylamide gel electrophoresis make gene analysis.Results The deletion of different region was found in 54 patients.Conclusion The deletion region is concentrated in 45～53 exons,the deletion of 48 exons is the peak.