假肥大型肌营养不良基因诊断研究进展

Research progress in genetic diagnosis of pseudohypertrophic muscular dystrophy

假肥大型肌营养不良[杜氏进行性肌营养不良(DMD)/贝氏进行性肌营养不良(BMD)]是最常见的X连锁隐性遗传性肌肉系统疾病,临床特征为进行性加重的对称性肌无力、肌萎缩和小腿腓肠肌假性肥大。DMD预后差,目前尚无治愈方法。抗肌萎缩蛋白基因(DMD基因)为致病基因,DMD基因庞大,突变类型多样,近年来DMD基因突变的检测技术已取得了一定的进展。本文就DMD基因诊断技术进展作一综述。

Pseudohypertrophic muscular dystrophy [Duchenne’s muscular dystrophy(DMD)/Becker’s muscular dystrophy(BMD)] is the most common inherited neuromuscular disorder with an X-linked recessive mode of inheritance, which is characterized by progressive symmetrical muscle weakness, muscle atrophy and false hypertrophy of calf sural muscle. The prognosis of DMD is poor and there is no effective treatment available to cure at present. The disease is caused by mutations in the DMD gene. The dystrophin gene(DMD gene) is the causative gene, and the DMD gene is huge with various mutation types. Recently there are some new advances in the mutation detection technology for DMD gene. This article will review the progress of DMD gene diagnosis techniques.