摘要：

Duchenne 型肌营养不良症是人类最常见的单基因遗传病，替换突变基因是其基因治疗的热点。腺相关病毒因其无人类致病原性、免疫原性较低且能在非分化细胞中长期存在，目前已广泛应用于基因治疗的相关研究。本文拟从腺相关病毒介导的微小抗肌萎缩蛋白（AAV micro-dystrophin）基因的构建、动物实验和临床试验三方面综述采用 AAV micro-dystrophin 基因治疗 Duchenne 型肌营养不良症的研究进展。

关键词: 肌营养不良, 杜氏, 基因治疗, 腺病毒科, 肌营养不良蛋白, 综述

Abstract:

Duchenne muscular dystrophy (DMD) is one of the most common single gene hereditary disease caused by mutation of DMD gene. How to replace the mutated gene has been greatly concerned until now. The continuous progress of gene therapy on DMD has focusing on constructing the micro-dystrophin and choosing a vector to transfer it through the whole body. Adeno-associated virus (AAV) has been widely used in this study because of its less pathogenicity, low immunogenicity and long-term expression in nondividing cells. This paper discussed the research progress of AAV micro-dystrophin gene therapy in DMD from the aspects of construction of AAV micro-dystrophin, animal models and clinical trials. In a conclusion, there is a long way to explore the clinical use of AAV micro?dystrophin on DMD patients, but it probably would be the most potential one we should pay more attention to. 

Key words: Muscular dystrophy, Duchenne, Genetic therapy, Adenoviridae, Dystrophin, Review