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家族性高胆固醇血症患者低密度脂蛋白受体基因新突变位点的鉴定

刘燕荣, 陶谦民, 陈君柱, 陶明, 郭晓纲, 尚云鹏, 朱建华, 张芙荣, 郑良荣, 王兴祥

浙江大学医学院附属第一医院心内科暨心血管病研究所. 浙江, 杭州 310003；中国科学院华大基因和生物信息研究所. 北京 100023

摘要

家族性高胆固醇血症(hypercholesterolemia familial,FH)是由于低密度脂蛋白受体(low density lipoprotein receptor,LDLR)基因突变导致的常染色体显性遗传性疾病,临床上表现为多发黄色瘤、高水平血浆LDL、早发性冠心病及有阳性家族史。

Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia

Liu Yanrong, Tao Qianmin, Chen Junzhu, Tao Ming, Guo Xiaogang, Shang Yunpeng, Zhu Jianhua, Zhang Furong, Zheng Liangrong, Wang Xingxiang

Department of Cardiovascular Diseases, the First Affiliated Hospital, Medical School of Zhejiang University. Hangzhou 310003, China；Institute of Gene & Biology Information, China Academy of Sciences. Beijing 100023, China

Abstract

Family hypercholesterolemia (FH) is a Genetic disorder caused by mutation in the low density lipoprotein receptor (LDLR) gene. It is characterized by a high concentration of low density lipoprotein (LDL). Which frequently gives rsie to tendon xanthenes and premature coronary artery disease. We studied a FH family, Which was diagnosed by clinical features and bolld lipid tests.

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刘燕荣, 陶谦民, 陈君柱, 陶明, 郭晓纲, 尚云鹏, 朱建华, 张芙荣, 郑良荣, 王兴祥. 家族性高胆固醇血症患者低密度脂蛋白受体基因新突变位点的鉴定[J]. 生理学报 2004; 56 (5): .

Liu Yanrong, Tao Qianmin, Chen Junzhu, Tao Ming, Guo Xiaogang, Shang Yunpeng, Zhu Jianhua, Zhang Furong, Zheng Liangrong, Wang Xingxiang. Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia. Acta Physiol Sin 2004; 56 (5): (in Chinese with English abstract).