Dai Yan-Fang, Sun Li-Yuan, Zhang Xin-Bo, Wang Lu-Ya
Capital Medical University, Beijing 100029, China.
Yi Chuan. 2011 Jan;33(1):1-8. doi: 10.3724/sp.j.1005.2011.00001.
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.
家族性高胆固醇血症（FH）是一种单基因常染色体显性疾病，主要由低密度脂蛋白受体（LDLR）基因的遗传缺陷引起，这会导致细胞表面LDLR减少或缺失、胆固醇代谢紊乱以及胆固醇在不同组织和器官中沉积。FH是一种常见的代谢性疾病，临床特征为出现黄色瘤和早发性冠心病。迄今为止，已在LDLR基因中鉴定出约1741种变异，其中在中国FH患者中鉴定出108种变异。为了更好地了解LDLR基因突变的特征并有助于FH的诊断和治疗，本综述全面概述了中国FH患者的LDLR基因突变情况。
