内容简介:  

朱海燕, 邬玲仟
3
, 梁德生, 夏家辉
(中南大学湘雅医院医学遗传学国家重点实验室, 湖南长沙410078)
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。
关键词: DMD ;dystrophin 蛋白;基因突变;基因诊断
中图分类号:R74612 　　文献标识码:A
Progress of DMD gene , mutations and mutation detection technology
ZHU Hai2yan ,WU Ling2qian ,L IAN G De2sheng ,XIA J ia2hui
(National Laboratory of Medical Genetics , Central South University ,Changsha 410078 , China)
Abstract : Dyst rophinopathies are X2linked recessive diseases caused by the complex mutations of the gigantic dyst rophin gene ( DMD) . With the development of the molecular biology , the further research and recognization of DMD gene and it s protein , it becomes a hot spot to discover simple , precise and economic mutation detection technology for DMD gene. Here , we reviewed the current understanding of this gene and the genotype2pheno-type relation for mutations in the DMD gene , and simultaneously int roduced some new mutation detection technologies for this gene.
Key words : DMD gene ; dystrophin ; gene mutation ; gene diagnosis

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