Detection of carriers with Duchenne muscular dystrophy by multiplex ligation-dependent probe amplification

Objective To evaluate gene diagnosis for carriers of Duchenne muscular dystrophies(DMD) using multiplex ligation dependent probe amplification(MLPA).Methods All 51 subjects were referred from the north China. MLPA technique was applied to detect patients and their 71 female relations exon deletions and duplications.Results Thirty-three exon deletions,6 exon duplications,one point mutation were detected in 51 DMD patients by MLPA.48 carriers were detected in 71 DMD female relations. Conclusion MLPA is a superior tool to analyze the deletions and duplications as well as in the identification of the carrier status of patients relations.