国人II型长QT综合征临床特点及KCNH2基因变异  

Clinical Characters and Mutation Analysis of Potassium Channel Genes KCNH2 in 77 Pedigrees of Chinese with Long QT Syndrome

作　　者：刘杰[1] 胡大一[1] 刘文玲[2] 李翠兰[2] 秦绪光 李运田[4] 李蕾[2] 李志明[1] 董玮[5] 李京湘[5] 戚豫[6] 王擎 

机构地区：[1]首都医科大学附属北京同仁医院心血管中心,北京100730 [2]北京大学人民医院心内科,北京100000 [3]清华大学第一附属医院,北京100000 [4]解放军305医院,北京100853 [5]中国科学院遗传所人类基因组中心,华大基因研究中心/中国科学院基因组信息学中心,北京100000 [6]北京大学第一医院中心实验室,北京100000 [7]Center of Cardiovascular Genetics,Cleveland and Clinic Foundation

出　　处：《科学技术与工程》2006年第11期1529-1533,共5页Science Technology and Engineering

基　　金：国家自然科学基金(30170381;30540038);北京市科技新星计划基金项目(2004-BG-01)资助

摘　　要：遗传性长QT综合征(LQTS)是一种常染色体遗传性心脏病。特征性表现为心电图上QTc延长,及尖端扭转型室性心动过速(TdP)导致的晕厥和猝死。近年来随着分子遗传学的发展已明确遗传性LQTS是由于编码离子通道的基因或细胞骨架蛋白基因突变造成的,目前已发现1￣8种类型,致病基因分别为KCNQ1、KCNH2、SCN5A、ANK2、KCNE1,KCNE2、KCNJ2和Cav2.1。本研究目的是观察中国遗传性II型LQTS(LQT2)患者的临床特点及KCNH2突变。应用聚合酶链反应和测序分析,对来自中国19个省市自治区的77个遗传性LQTS家系筛查了LQT2致病基因KCNH2,观察临床表现和心电图改变。77例LQTS家系先证者中,心电图表现为LQT2者42例(54.5%),平均年龄(26.7±12.7)岁,QTc(580±70)ms,发病年龄(17.3±11.5)岁。晕厥触发因素包括运动、情绪激动和铃声刺激等。目前已经发现了9个KCNH2突变,其中4个为首先发现;另外还发现5个KCNH2的核苷酸多态性。证明LQT2为中国最常见的LQTS;中国LQT2患者心电图表现与临床特点与欧美LQT2患者有所不同。The hereditary long QT syndrome （LQTS） is a cardiac disorder characterized by prolongation of the QT interval on electrocardiograms （ECGs）, syncope and sudden death. It is caused by mutations in genes encoding for cardiac ionic channel. 77 LQTS patients were characterized for clinical manifestations and mutations in KCNH2 using polymerase chain reaction （PCR） and direct sequencing. 42 probands （54.5%） were considered as LQT2 by the typical ST-T-wave patterns. The average age for this population of LQT2 patients is （26.7±12.7） years; the average QTc is （580±70） ms, and the age of the first syncope attack is （17.3±11.5） years. The triggers for cardiac events in these patients included physical exercises, emotional excitements and auditory irritation. 9 KCNH2 mutations and 5 KCNH2 nucleotide polymorphisms were identified, among them 4 were novel mutations. It is concluded that LQT2 is the major type in Chinese LQTS patients, and these patients had their own clinical and ECG characteristics.

关 键 词：长QT综合征 晕厥 基因 突变 

分 类 号：R596.3[医药卫生—内科学]