遗传性血管性血友病分子发病机制研究进展  

Molecular Pathogenesis of Congenital von Willebrand Disease

作　　者：谢飞[1] 王鸿利[1] 

机构地区：[1]上海交通大学附属瑞金医院,上海血液研究所,200025

出　　处：《国际遗传学杂志》2006年第2期137-141,共5页International Journal of Genetics

摘　　要：血管性血友病因子(von Willebrand factor,vWF)是一种在一期和二期止血中都起着重要作用的糖蛋白,其缺乏将导致患者出现血管性血友病(von Willebrand disease,vWD)。遗传性vWD可根据表型分为1型、2型和3型。其中2型又可进一步分为2A、2B、2M和2N 4种亚型。3种类型及各亚型间具有不同的分子发病机制,阐明这些机制对研究vWF分子结构和功能以及vWD诊断和治疗具有重要意义。yon Willebrand factor （vWF） is a multimeric glycoprotein （GP） that plays a crucial role in both primary and secondary hemostasis. Quantitative or qualitative defects of vWF may result in a severe bleeding disorder known as yon Willebrand disease （vWD）. vWD has been classified into three major types as quantitative （type 1 and 3） and qualitative （type 2） according to the pathophysiology, vWD type 2 have been further classified into four subtypes as 2A, 2B, 2M and 2N. Molecular characterization of vWD will reveal clues to Stmctttre-Function Relationships and greatly aid in clinical diagnosis and therapy.

关 键 词：血管性血友病因子 血管性血友病 分子发病机制 

分 类 号：R554.1[医药卫生—血液循环系统疾病]