Tian Li, Zhu Jian-Fang, Yang Jun-Guo
Institute of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Zhonghua Xin Xue Guan Bing Za Zhi. 2007 Dec;35(12):1122-5.
To analyze the gene mutations on the cardiac sodium channel gene SCN5A in a Chinese family with Brugada syndrome.
Polymerase chain reaction and DNA sequencing were used to screen gene mutations on the cardiac sodium channel gene SCN5A in all family members of a Chinese pedigree with Brugada syndrome, single strand conformation polymorphism analysis were performed in 136 normal controls to detect the mutations of SCN5A gene.
Two heterozygosis mutations, which include a missense mutation (Y1494N) and a same sense mutation (A29A), were identified on SCN5A gene in the proband with Brugada syndrome and these mutations were not detected in other family members with Brugada syndrome and in controls.
We detected a reported polymorphism site (A29A) and a novel missense mutation (Y1494N) on SCN5A in this Chinese family with Brugada syndrome.
分析一个患布加综合征的中国家系中心脏钠通道基因SCN5A的基因突变情况。
采用聚合酶链反应和DNA测序技术，对一个患布加综合征的中国家系的所有家庭成员进行心脏钠通道基因SCN5A的基因突变筛查，对136名正常对照者进行单链构象多态性分析以检测SCN5A基因的突变情况。
在患布加综合征的先证者的SCN5A基因上鉴定出两个杂合突变，其中包括一个错义突变（Y1494N）和一个同义突变（A29A），在其他患布加综合征的家庭成员和对照者中未检测到这些突变。
在这个患布加综合征的中国家系中，我们在SCN5A基因上检测到一个已报道的多态性位点（A29A）和一个新的错义突变（Y1494N）。
