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

, Kang, Kyong Ju; , Han, Seung Sang; , Woo, Young Joung; , Kim, Mi Hwa; , Choi, Chan

Original Article

Journal of the Korean Academy of Rehabilitation Medicine 2000;24(1):93-99.

Kang, Kyong Ju , Han, Seung Sang , Woo, Young Joung , Kim, Mi Hwa , Choi, Chan

¹Department of Rehabilitation Medicine, Chonnam National University College of Medicine.
²Department of Pediatrics, Chonnam National University College of Medicine.
³Department of Pathology, Chonnam National University College of Medicine.

한국인 뒤시엔느형 근이영양증의 유전자 결손 양상

강경주, 한승상, 우영종¹, 김미화², 최찬²

전남대학교 의과대학 재활의학교실, ¹소아과학교실 및 ²병리학교실

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.

Key Words: Duchenne muscular dystrophy, Dystrophin gene, Multiplex-PCR, Exon deletion