关键词: 假性肥大型进行性肌营养不良症, 抗肌萎缩蛋白, 缺失, 重复, 多重连接依赖式探针扩增

Abstract: Duchenne muscular dystrophy (DMD) is X-linked disorder caused by mutations in the dystrophin gene. To investigate mutation types and distribution characteristics of dystrophin gene in Chinese DMD patients, we used Multiplex Ligation-Dependent Probe Amplification (MLPA) to analyze the dystrophin gene in 720 DMD patients, their mothers, and 20 normal adult males. Results showed that detection rate was 64.9% (467/720) in all the patients, gene deletion rate was 54.3% (391/720), and gene duplication rate was 10.6% (76/720). The rate of deletion mutant occurred in Exon 45-54 was 71.9% (281/391) in all gene deletion patients; meanwhile, the rate of gene duplication occurred in Exon 1-40 was 82.9% (63/76) in all gene duplication ones. In all the patients with gene deletion and duplication, the rate of DMD and IMD was 90.6% (423/467), and BMD, 9.4% (44/467). This indicates that the main reason of duchenne muscular dystrophy is dystro-phin gene deletion mutation, which would occur in any gene unevenly with hot spots of mutation. The location and frag-ment length of gene deletion and duplication cannot decide the severity of clinical symptoms directly.

Key words: Duchenne’s muscular dystrophy, dystrophin, deletions, duplications, Multiplex Ligation-Dependent Probe Amplification