Detection of Duchenne/Becker muscular dystrophy gene deletions with multiplex-PCR

Objective:To analyses the deletion distribution of Dystrophin gene in Duchenne/Becker muscular dystrophy(DMD/BMD) patients.To analyses the experimental method.Methods:Forty patients with DMD/BMD and five healthy people were screened with multiplex-PCR(mPCR) using eighteen pairs of primers.Results:Different exon deletions were detected in twenty-seven cases(67.5%),thirteen cases(32.5%) were not.The deletions of sixteen cases were located in exons 44-52,six in exons 2-20 and five in the both,especially in exon 45,48 and 51.Conclusion:Gene deletion is mainly distributed in two hot spot around exons 44-52 and 2-20.Multiplex-PCR is a valuable method in clinical diagnosis.