| 肝豆状核变性的分子生物学研究进展 |
| |
| 引用本文： | 陈定邦,冯黎,李洵桦.肝豆状核变性的分子生物学研究进展[J].现代医学仪器与应用,2011(2). |
| |
| 作者姓名： | 陈定邦 冯黎 李洵桦 |
| |
| 作者单位： | 中山大学第一附属医院神经内科; |
| |
| 摘 要： | 本文旨在对肝豆状核变性分子机制研究进展进行综述。肝豆状核变性是一种以多器官铜沉积为特征的常染色体隐性遗传疾病,未经及时治疗的患者可能出现严重的功能损害甚至死亡。目前对其致病基因表达产物ATP7B的亚细胞定位、空间结构及其各结构域的功能特点已有不少研究。研究者们探讨ATP7B各位点的突变,尤其是欧洲人群和亚洲人群各自的突变热点H1069Q和R778L,与某种特定疾病表型联系起来,但是仍未发现二者之间肯定的相关性。此外,近年来肝豆状核变性基因诊断日益普及,检测技术也不断进步,这些分子生物学水平的进展为未来肝豆状核变性的生理学研究、诊断及治疗提供了新的方向。
|
| 关 键 词： | 肝豆状核变性 ATP7B 铜 基因型 表型 |
Wilson's disease: recent advancement in molecular biology |
| |
| Authors: | CHEN Dingbang FENG Li LI Xunhua |
| |
| Institution: | CHEN Dingbang,FENG Li,LI Xunhua (Department of Neurology,The First Affiliated Hospital,Sun Yat-sen Univerisity,Guangdong Guangzhou,510080,China) |
| |
| Abstract: | The focus of this review is on the current status and new advances in molecular pathogenetic mechanism of Wilson's disease, an autosome recessive disease characterized with deposition of excess copper in multiorgans and severe disability or even death without timely treatment in consequence. Recently ATP7B, which is directly accountable for Wilson's disease, has been studied on its subcellular disposition, dimensional structure and the functional properties of domains. And the attempts at the correlating ce... |
| |
| Keywords: | Wilson's disease ATP7B Copper Genotype Phenotype |
| 本文献已被 CNKI 等数据库收录！ |
|
