[7例Brugada综合征患者SCN5A基因突变的检测]
[Detection of gene mutations of SCN5A in 7 patients with Brugada syndrome].
作者信息
Yuan Bin-bin, Shan Qi-jun, Yang Bing, Chen Ming-long, Zou Jian-gang, Chen Chun, Xu Dong-jie, Cao Ke-jiang
机构信息
Department of Cardiology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
出版信息
Zhonghua Xin Xue Guan Bing Za Zhi. 2008 May;36(5):404-7.
OBJECTIVE
Brugada syndrome is linked to sodium channel mutations and could induce arrhythmias that even lead to sudden death. The purpose of this study was to detect if there was gene mutation of SCN5A in 7 patients with Brugada syndrome and explore the molecular genetic characteristics of this disease.
METHOD
Genomic DNA was extracted from peripheral blood of all 7 patients with Brugada syndrome and 41 pairs of PCR primers were designed to amplify all the 28 exons of SCN5A.
RESULT
There was no novel mutation in exons of Gene SCN5A in these patients with Brugada syndrome.
CONCLUSION
Brugada syndrome might associated gene mutation or other mechanisms independent of SCN5A gene mutation.
目的
Brugada综合征与钠通道突变有关，可诱发心律失常甚至导致猝死。本研究旨在检测7例Brugada综合征患者是否存在SCN5A基因突变，并探讨该疾病的分子遗传学特征。
方法
从7例Brugada综合征患者的外周血中提取基因组DNA，并设计41对PCR引物以扩增SCN5A的所有28个外显子。
结果
这些Brugada综合征患者的SCN5A基因外显子未发现新的突变。
结论
Brugada综合征可能与基因突变或其他独立于SCN5A基因突变的机制有关。
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