家族性高胆固醇血症患者低密度脂蛋白受体及其基因缺陷

• 作 者: 王艳林 刘孝全
• 机 构: 宜昌医学专科学校,宜昌医学专科学校,
• 出 处: 国外医学.遗传学分册
• 发表日期: 1992年05期
• 关键词: 血浆脂蛋白 无义突变 基因突变 基因缺陷 脂代谢紊乱 外显子 遗传性疾病 血浆 错义突变 氮基酸

LDLR 是一种细胞表面糖蛋白,因介导血浆 LDL 和β-VLDL 的摄取和细胞内降解而在维持血浆脂蛋白代谢平衡中起重要作用。组成 LDLR 蛋白的5个功能区与 LDLR 基因结构之间有密切的对应关系。FH 是 LDLR 基因突变所致的遗传性疾病,已发现的突变形式有缺失,错义突变,无义突变和插入4种。这些突变导致 LDLR 的4种不同类型的功能障碍。由基因突变引起的脂代谢紊乱,是 FH 患者易发动脉粥样硬化的原因。

LDLR is a cell surface glycoprotein that plays an important role in maintaining the balance of plasma lipoprotein metabolism by mediating the uptake and intracellular degradation of plasma LDL and beta-VLDL. The five functional regions that make up the LDLR protein are closely related to the LDLR gene structure. FH is a genetic disease caused by the mutation of LDLR gene. Four mutations have been found, including deletion, missense mutation, nonsense mutation and insertion. These mutations lead to 4 different types of dysfunction of LDLR. The disorder of lipid metabolism caused by gene mutation is the cause of the development of atherosclerosis in FH patients.