Mutations and SNPs of human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese patients with Brugada syndrome
Mutations and SNPs of human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese patients with Brugada syndrome
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日本 Brugada 综合征患者心脏钠通道 α 亚基基因 (SCN5A) 的突变和 SNP
DOI：
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发表时间：
2007
期刊：
影响因子：
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通讯作者：
Daiji Miura
中科院分区：
文献类型：
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作者：
Daiji Miura
背景资料：Brugada综合征是一种以右束分支传导阻滞和ST段抬高为特征的遗传性心脏病，可导致心电图V1改变为V3，增加心室颤动导致心源性猝死的风险。钠通道α 5亚基（SCN 5A）基因编码心脏电压依赖性钠通道，并且已报道Brugada综合征中存在SCN 5A突变。然而，单核苷酸多态性（SNPs）和基因突变还没有得到很好的调查，在日本患者Brugada syndrome.Methods和结果：SCN 5A基因检测58例患者，采用PCR和ABI 3130xl测序仪，揭示17个SNP模式和13个突变。在13个突变中，8个是错义突变（有氨基酸改变），4个是沉默突变（没有氨基酸改变），1个是剪接连接内的突变。8个错义突变中有6个是新突变。有趣的是，我们检测到了R1664 H突变，该突变最初在长QT综合征中被发现。结论：我们在58例Brugada综合征患者中发现了13个SCN 5A基因突变。该疾病可能归因于一些突变和SNP。
Background: Brugada syndrome is an inherited arrhythmogenic disease characterized by right bundle branch block pattern and ST segment elevation, leading to the change of V1 to V3 on electrocardiogram, and an increased risk of sudden cardiac death resulting from ventricular fibrillation. The sodium channel alpha 5 subunit (SCN5A) gene encodes a cardiac voltage-dependent sodium channel, and SCN5A mutations have been reported in Brugada syndrome. However, single nucleotide polymorphisms (SNPs) and gene mutations have not been well investigated in Japanese patients with Brugada syndrome.Methods and Results: The SCN5A gene was examined in 58 patients by using PCR and the ABI 3130xl sequencer, revealing 17 SNP patterns and 13 mutations. Of the 13 mutations, 8 were missense mutations (with amino acid change), 4 were silent mutations (without amino acid change), and one case was a mutation within the splicing junction. Six of the eight missense mutations were novel mutations. Interestingly, we detected an R1664H mutation, which was identified originally in long QT syndrome.Conclusion: We found 13 mutations of the SCN5A gene in 58 patients with Brugada syndrome. The disease may be attributable to some of the mutations and SNPs.