DMD启动子在基因治疗中作用的研究进展

假肥大型进行性肌营养不良(DMD)是一类X连锁隐性退行性肌肉萎缩病。目前，关于DMD基因外显子缺失，内含子断裂点以及所编码dystrophin蛋白的结构已经明确,这对DMD的临床诊断有很大价值；但对于基因治疗来说，明确DMD基因启动子的顺式元件以及反式因子的结构及相互作用关系是十分关键的，这些元件的相互作用对于dystrophin蛋白的转录水平及表达起关键调节作用；研究表明，人工合成的DMD肌启动子活性比生物体内DMD基因启动子活性高，找出启动子关键元件构建特异性高效启动子，将其应用于基因治疗，这是一条新的途径。

Progress on DMD Gene Promoter in the Role of Gene Therapy

Duchenne muscular dystrophy is X-linked recessive disorders which result in a distinctive pattern and progressive muscle wasting.At present,on the DMD gene deletion in exon containing break-point,as well as the coding of the dystrophin protein has a clear structure.which is of great value to the clinical diagnosis of DMD.Furthermore,for gene therapy,more development is needed for DMD gene promoter Cis-acting elements and the trans-factor structure and the relationship between these components,which play a key role in the regulation protein expression and the transfer rate;Study showed that artificial muscle promoter in vivo biological activity is more than the gene itself promoter,The relevant sub-components will be found to stan building a hish-specific promoter,if applied,it is a new way for gene therapy.