摘要
Duchenne/Beckermuscu lar dystroph ies(DMD/BMD)是人类常见的X染色体连锁隐性遗传的神经-肌肉系统疾病,发病率高,至今尚无有效的治疗方法。DMD和BMD是等位基因异质性疾病,其候选基因dystroph in突变率高,有5′端和中央两个缺失热点区域,通过筛查缺失热点区域可以检出98%的缺失。DMD/BMD与dystroph in基因突变关系复杂,dystroph in基因突变导致DMD/BMD不仅与基因突变是否破坏了开放阅读框有关,而且与dystroph in蛋白受累的功能区域相关,并涉及“外显子跨越转录”和“阅读框重建”等保护性调节机制。
The Duchenne and Becker muscular dystrophies （DMD/BMD） aro X-linked recessive diseases of the neuromuscular system, which are characterized by high morbility. At present, there are no valid interventions available for the treatment of the condition. DMD and BMD are allele-heterogeneous diseases, and the affected gene is dystrophin that has high frequency of mutations and deletions clustering at two hotspots-the central part of the gene and the region proximal to axis. About 98% of all deletions can be identified by screening these two hotspots. The relationship between DMD/BMD and dystrophin gene mutation is complicated. DMD/BMD may develop if mutations of dystrophin gene destroy the open reading frame or the functional domains of dystrophin proreins were affected. The protective mechanisims such as ＂crossover transcription of exons and the ＂reconstruction of reading＂ are also implicated in the mutations
出处
《医学分子生物学杂志》
CAS
CSCD
2006年第2期113-117,共5页
Journal of Medical Molecular Biology
基金
"十五"国家科技攻关课题(NO.2004BA720A04)~~
