中国人群家族性高胆固醇血症LDLR基因突变研究进展

doi:10.3724/SP.J.1005.2011.00001

遗传 ›› 2011, Vol. 33 ›› Issue (1): 1-8.doi: 10.3724/SP.J.1005.2011.00001

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中国人群家族性高胆固醇血症LDLR基因突变研究进展

代艳芳, 孙立元, 张新波, 王绿娅

首都医科大学附属北京安贞医院, 北京市心肺血管疾病研究所, 北京 100029

收稿日期:2010-08-03 修回日期:2010-10-14 出版日期:2011-01-20 发布日期:2011-01-20
通讯作者: 王绿娅 E-mail:wangluya@163.com
基金资助:
国家自然科学基金项目(编号: 30771986, 30772356)和北京市自然科学基金项目(编号: 7062010, 7092016)资助

Research progression of LDLR mutations in Chinese Familial hyper- cholesterolemia

DAI Yan-Fang, SUN Li-Yuan, ZHANG Xin-Bo, WANG Lu-Ya

Beijing Institute of Heart Lung and Blood Vessel Diseases-Beijing Anzhen Hospital, Affiliated of Capital Medical University, Beijing 100029, China

Received:2010-08-03 Revised:2010-10-14 Online:2011-01-20 Published:2011-01-20
Contact: WANG Lu-Ya E-mail:wangluya@163.com

摘要/Abstract

摘要： 家族性高胆固醇血症(Familial hypercholesterolemia, FH)主要是由于低密度脂蛋白受体(Low-density lipoprotein receptor, LDLR)基因突变导致的单基因显性遗传性疾病。FH患者LDLR基因突变导致细胞膜表面LDLR减少或缺如, 机体代谢胆固醇能力降低, 血浆胆固醇增高并沉积在不同的组织和器官, 常伴有全身黄色瘤和早发冠心病, 因此FH也是最常见的严重代谢性疾病。世界范围内对LDLR基因突变的报道总共有1 741种, 经整理我国目前报道的140例FH指示病例, 包括108种LDLR基因突变类型。文章对已报道的中国FH患者LDLR基因突变特点进行系统分析和综述, 旨在为FH诊断治疗提供参考依据。

关键词: 高胆固醇血症, 家族性, 低密度脂蛋白受体, 基因突变, 中国人群

Abstract: Familial hypercholesterolemia (FH), one monogenic autosomal dominant disease, mainly results from genetic defects in the low-density lipoprotein receptor (LDLR) gene, which leads to the reduction or absence of cell surface LDLR, disorder of cholesterol metabolism, and cholesterol deposition in different tissues and organs. FH is a common metabolic disease clinically characterized by the presence of xanthomas and premature coronary heart disease. To date, about 1 741 variants have been identified in gene LDLR, among which 108 variants were identified in Chinese FH patients. To better understand the features of LDLR gene mutations and help to FH diagnosis and therapy, this review provides a comprehensive overview of LDLR gene mutations in Chinese FH patients.

Key words: hypercholesterolemia, familial, low-density lipoprotein receptor, gene mutation, Chinese

代艳芳，孙立元，张新波，王绿娅. 中国人群家族性高胆固醇血症LDLR基因突变研究进展[J]. 遗传, 2011, 33(1): 1-8.

DAI Yan-Fang, SUN Li-Yuan, ZHANG Xin-Bei, WANG Lu-Ya. Research progression of LDLR mutations in Chinese Familial hyper- cholesterolemia[J]. HEREDITAS, 2011, 33(1): 1-8.

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Research progression of LDLR mutations in Chinese Familial hyper- cholesterolemia

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