|
|||||
|
|
| 家族性高胆固醇血症患者低密度脂蛋白受体基因复合杂合突变分析 | |
| 引用本文： | 蔺洁,王绿娅,潘晓冬,肖文虎,王旭,杜兰平,姜志胜.家族性高胆固醇血症患者低密度脂蛋白受体基因复合杂合突变分析[J].现代生物医学进展,2009,9(19). |
| 作者姓名： | 蔺洁 王绿娅 潘晓冬 肖文虎 王旭 杜兰平 姜志胜 |
| 作者单位： | 1. 南华大学医学院心血管病研究所,湖南省动脉粥样硬化学重点实验室,湖南,衡阳,421001;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 2. 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 3. 南华大学医学院心血管病研究所,湖南省动脉粥样硬化学重点实验室,湖南,衡阳,421001 |
| 基金项目： | 国家自然科学基金,北京市自然科学基金 |
| 摘 要： | 目的:对1例临床确诊为纯合型家族性高胆固醇血症(FH)先证者及其核心家系成员进行基因检测分析,探讨患儿发病的分子病理基础.方法:收集先证者及父母血标本及临床资料,酚氯仿法提取基因组DNA,DNA直接测序方法检测低密度脂蛋白受体(LDL-R)基因18个外显子和启动子及载脂蛋白B(ApoB100)R3500Q位点,核苷酸序列分析结果与Gen Bank比对寻找突变.结果:(1)先证者三尖瓣轻度关闭不全,先证者父母双侧颈总动脉内-中膜增厚,先证者母亲左侧颈内动脉起始处后壁多发混合回声斑块(2)该家系排除ApoB100基因R3500Q突变;(3)先证者LDL-R基因第13外显子发生A606T和D601Y复合杂合突变,前者第1879位G→A碱基置换,导致丙氨酸改变为苏氨酸,后者为1864位G>T碱基置换,导致天冬氨酸改变为酪氨酸,其父为携带A606T突变的杂合子,其母为携带D601Y突变的杂合子.结论:先证者LDL-R基因存在A606T和D601Y复合杂合突变,它们分别来源于父系及母系遗传. |
| 关 键 词： | 家族性高胆固醇血症 复合杂合 基因突变 低密度脂蛋白受体 |
Familial Hypercholesterolemia due to Mutation of Low Density Liporotein Receptor Gene |
|
| LIN Jie,WANG Lu-ya,PAN Xiao-dong,XIAO Wen-hu,WANG Xu,Du Lan-ping,JIANG Zhi-sheng.Familial Hypercholesterolemia due to Mutation of Low Density Liporotein Receptor Gene[J].Progress in Modern Biomedicine,2009,9(19). | |
| Authors: | LIN Jie WANG Lu-ya PAN Xiao-dong XIAO Wen-hu WANG Xu Du Lan-ping JIANG Zhi-sheng |
| Institution: | LIN Jie1,2,WANG Lu-ya2,PAN Xiao-dong2,XIAO Wen-hu1,WANG Xu2,DU Lan-ping2,JIANG Zhi-sheng1(1 Institute of Cardiovascular Diseases,Key Laboratory for Arteriosclerology of Hunan Province,University of South China,421001,2 Beijing Anzhen Hospital Capital Medical University Beijing Institute of Heart Lung and Blood Vessel Diseases,100029) |
| Abstract: | Objective:Genetic testing for one clinical proband with familial hypercholesterolemia(FH) and its core family members was performed to investigate the molecular pathological basis for the disease onset.Methods: Blood samples and clinical data were collected from the proband and the parents.They would undergo examinations of electrocardiogram and ultrasound.Phenol-chloroform method was applied for extraction of the family genome and DNA from both parents and the patient for verification.Direct sequencing for... |
| Keywords: | Familial hypercholesterolemia Gene mutation Low-density lipoprotein receptor Compound heterozygosis mutation |
| 本文献已被 CNKI 万方数据 等数据库收录！ | |