| 家族性高胆固醇血症患者及其家系成员候选基因突变分析 |
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| 引用本文： | 王旭,蔺洁,潘晓冬,许瑛杰,杨娅,张小山,杜兰平,王绿娅.家族性高胆固醇血症患者及其家系成员候选基因突变分析[J].实用儿科临床杂志,2010(2). |
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| 作者姓名： | 王旭 蔺洁 潘晓冬 许瑛杰 杨娅 张小山 杜兰平 王绿娅 |
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| 作者单位： | 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动脉硬化研究室;首都儿科研究所儿科; |
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| 基金项目： | 国家自然科学基金(30771986,30772356); 北京市自然科学基金(7052021,7062010,7092016); 北京市科委重大项目(D0906006040191) |
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| 摘 要： | 目的对1例临床确诊为杂合子家族性高胆固醇血症先证者及其3代家系成员进行候选基因检测和系谱分析,探讨其发病机制。方法收集该家系3代共13例血标本及临床资料。对先证者进行心电图和超声检查。对其家系成员进行血脂测定。酚氯仿法提取患儿及家系成员基因组DNA并鉴定,应用多聚酶链反应-单链构象多态性(PCR-SSCP)分析结合DNA直接测序方法,检测其低密度脂蛋白受体(LDLR)基因的启动子及编码区,枯草溶菌素转化酶9(PCSK9)基因启动子及编码区,载脂蛋白B100(apoB100)26外显子,核苷酸序列分析结果与GenBank比对。结果1.先证者颈动脉中膜厚度增厚,局部可见强回声斑块;左房轻度增大,主动脉瓣、二尖瓣轻度返流,冠状动脉血流储备减低。2.该家系排除apoB100基因3500及附近位点突变。3.核苷酸序列分析证实先证者LDLR基因第10外显子发生W462X杂合突变,为色氨酸变为终止密码子;PCSK9基因第1外显子发生第158位碱基T取代C,63、64碱基间插入CTG,分别导致53位丙氨酸(A)变为缬氨酸(V)和21、22位氨基酸之间插入亮氨酸(L)。结论该先证者LDLR基因存在W462X杂合突变,可能为该家...
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| 关 键 词： | 家族性高胆固醇血症 低密度脂蛋白受体 枯草溶菌素转化酶9 基因突变 基因多态性 |
Analysis of Low Density Lipoprotein Receptor Gene Mutation in A Child and His Family with Familial Hypercholesterolemia |
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| WANG Xu,LIN Jie,PAN Xiao-dong,XU Ying-jie,YANG Ya,ZHANG Xiao-shan,DU Lan-ping,WANG Lv-ya.Analysis of Low Density Lipoprotein Receptor Gene Mutation in A Child and His Family with Familial Hypercholesterolemia[J].Journal of Applied Clinical Pediatrics,2010(2). |
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| Authors: | WANG Xu LIN Jie PAN Xiao-dong XU Ying-jie YANG Ya ZHANG Xiao-shan DU Lan-ping WANG Lv-ya |
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| Institution: | WANG Xu1,LIN Jie1,PAN Xiao-dong1,XU Ying-jie2,YANG Ya1,ZHANG Xiao-shan1,DU Lan-ping1,WANG Lv-ya1(1.Department of Arteriosclerosis,Beijing Institute of Heart Lung , Blood Vessel Diseases,Beijing Anzhen Hospital Affiliated to Capital University of Medical Sciences,Beijing 100029,China,2.Department of Pediatrics,Capital Institute of Pediatrics,Beijing 100020,China) |
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| Abstract: | Objective To identify the disease-causing mutations of low density lipoprotein receptor(LDLR) gene in a heterozygous familial hypercholesterolemia(FH) family and explore the relationship between the genotype and phenotype as well as the pathogenic molecular mechanism.Methods The promoter,the entire coding sequence of the LDLR and proprotein convertase subtilisin/kexin type 9(PCSK9) gene and a fragment of exon 26 of the apoB100 gene were scanned for mutations in the proband.A child with clinical phenotype of... |
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| Keywords: | familial hypercholesterolemia low density lipoprotein receptor proprotein convertase subtilisin/kexin type 9 gene mutation gene polymorphism |
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