摘要
假性肥大型进行性肌营养不良(DMD/BMD)是一类发病率较高的X连锁隐性遗传病。DMD基因庞大,突变机制复杂,随着分子生物学的进展,对DMD基因及其所编码dystrophin蛋白的认识不断深入,探索更简便、准确、经济的基因突变检测技术成为目前对DMD研究的热点,本文着重对DMD基因、突变与表型关系的研究进展,以及突变检测技术的进展做一综述。
Dystrophinopathies are X-linked recessive diseases caused by the complex mutations of the gigantic dystrophin gene （ DMD）. With the development of the molecular biology, the further research and recognization of DMD gene and its protein, it becomes a hotspot to discover simple, precise and economic mutation detection technology for DMD gene. Here, we reviewed the current understanding of this gene and the gene, and simultaneously introduced some new mutation detection genotype-phenotype relation for mutations in the DMD technologies for this gene.
出处
《基础医学与临床》
CSCD
北大核心
2005年第11期975-981,共7页
Basic and Clinical Medicine
基金
国家重点基础研究发展规划项目(973)(2001CB510302)
