姐妹2人同患家族性高胆固醇血症家系LDL-R基因突变分析 |
| |
引用本文: | 张筠婷,潘晓冬,王绿娅,蔺洁,勇强,杨娅,杜兰平. 姐妹2人同患家族性高胆固醇血症家系LDL-R基因突变分析[J]. 心肺血管病杂志, 2008, 27(2): 82-86 |
| |
作者姓名: | 张筠婷 潘晓冬 王绿娅 蔺洁 勇强 杨娅 杜兰平 |
| |
作者单位: | 1. 100029,北京,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;421001;湖南,衡阳,南华大学附属第一医院 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 |
| |
基金项目: | 国家自然科学基金 , 北京市自然科学基金 , 北京市科技新星计划项目 |
| |
摘 要: | 目的:对临床确诊的家族性高胆固醇血症(FH)两姐妹及其家系成员进行低密度脂蛋白受体(LDL-R)基因突变分析,探讨其发病机制。方法:提取患者外周血基因组DNA,聚合酶链反应分别扩增启动子和18个外显子片断,采用单链构象多态性(PCR-SSCP)结合银染技术,对异常电泳条带进行核苷酸序列分析。结果:姐妹2人及其父亲,叔叔,祖母均发现LDL-R基因第13外显子存在一个错义突变,与GeneBank对照证实第1879位G→A碱基置换,氨基酸的改变为丙氨酸→苏氨酸(A606T突变),其母亲和女儿经测序并未发现此突变位点。结论:姐妹2人均为LDL-R基因存在A606T杂合错义突变,并均来自其父系亲属;可能是该家系发病的分子基础。
|
关 键 词: | 高胆固醇血症,家族性 低密度脂蛋白受体 聚合酶链反应-单链构象多态性 基因突变 |
文章编号: | 1007-5062(2008)02-082-05 |
修稿时间: | 2007-10-31 |
The LDL-R gene mutation analysis in sibling Sisters of familial hypercholesterolemia ZHANG Yunting,PAN |
| |
Affiliation: | ZHANG Yunting,PAN Xiaodong,WANG Luya,LIN Jie,Y0NG Qiang,YANG Ya,DU Lanping (Beijing Institute of Heart Lung and Blood Vessel Diseases,Capital University of Medical Sciences affiliated Beijing Anzhen Hospital,Beijing 100029,China) |
| |
Abstract: | Objective:To screen the point mutation of low density lipoprotein receptor(LDL-R) gene in Chinese familial hypercholesterolemia (FH) patients, we use PCR single strand conformation polymorphism(PCR-SSCP),and discuss the molecular pathologic mechanism of FH.Method:A patient with the clinical phenotype of FH as well as her family have been investigated for mutations of promoter and all eighteen exons of LDL-R gene. Screening was carried out by using Touch-down PCR, agarose gel electrophoresis and PCR-SSCP, combined with DNA sequence analysis. Then the result were compared with that in FH GeneBank. Result:A missense mutation in LDL-R extron 13 was detected in 4 members of the family. Compaired with the GeneBank, a G→A base substitution was found in 1?879 site,and it's proved the A606T mutation. Conclusion:A heterozygosis G→A missense mutation in LDL-R gene was found in the twin sisters. The change of the missense mutation in LDL-R extron 13 may come from their father. |
| |
Keywords: | Familial hypercholesterolemia Low density lipoprotein receptor polymerase chain reaction single strand conformation polymorphism Gene mutation |
本文献已被 维普 万方数据 等数据库收录! |
|