Pattern of Exon Deletions of Dystrophin Gene in Korean Patients with Duchenne Muscular Dystrophy

ABSTRACT

OBJECTIVE: To investigate the pattern of exon deletions in Korean patients with Duchenne muscular dystrophy (DMD), and to find the correlation of the exon-deletion with clinical symptoms or laboratory findings. METHOD: Genomic DNA of the nine children with DMD were analyzed by the sets of multiplex PCR and one singlet PCR in total of fifteen primers of the dystrophin gene. The primers were made from the promotor, and the exons 3, 4, 6, 8, 12, 13, 43, 44, 47, 48, 50, 51, 52 and 60 of the dystrophin gene, respectively. RESULTS: Eight out of nine patients revealed exon deletions. The exon 3 was most commonly deleted (6 patients), and exon 48, 50 and 60 were second most common (2 patients). The exons 4, 6, 13, 44, 47 and 52 were not deleted in all patients. CONCLUSION: We found that the exons 3, 48, 50 and 60 are frequently deleted in Korean patients with DMD. The pattern of deletion was not correlate with clinical symptoms or laboratory findings.