中国汉族人Brugada综合征患者SCN5A基因Ⅳ区一个新的突变  

A New Mutation in Domain Ⅳ of SCN 5A in Chinese Han with Brugada Syndrome

作　　者：黄峥嵘[1] 陈良龙[2] 李卫华[1] 谢强[1] 范林[2] 方军[2] 吴钢[3] 唐其柱[3] 黄从新[3] 

机构地区：[1]福建医科大学附属厦门第一医院心内科,福建厦门361000 [2]福建医科大学附属协和医院心内科,福建福州350001 [3]武汉大学人民医院心内科,湖北武汉430000

出　　处：《中华高血压杂志》2008年第11期1018-1022,共5页Chinese Journal of Hypertension

基　　金：福建省教育厅科技项目(项目号:JB07104);厦门市科技局科研基金(项目号:3502Z20064001);厦门市卫生局科研基金(项目号:WSK0613;WSK0520;WQK0614)

摘　　要：背景 Brugada 综合征是一种易导致猝死的具有遗传倾向的疾病,与编码心肌钠通道的基因突变有关。目的研究中国 Brulgada 综合征患者 SCN5A 基因的碱基改变情况。方法对15例先证者及家系进行直接SCN5A 基因测序。DNA 来源于患者外周血白细胞。全部28个外显子通过设计的40对引物进行 PCR 扩增,扩增后的产物直接测序。结果在一个家系上发现了一个错义突变,即 G5080A(R1628Q),该突变导致心肌细胞钠通道的α亚基第Ⅳ结构域的第4片段发生改变。在150个正常对照者未发现此碱基改变。结论 G5080A(R1628Q)可能是中国 Brugada 综合征患者 SCN5A 基因新的突变位点。Background Brugada syndrome is associated with high risk of sudden cardiac death and the mutations in the cardiac voltage-gated sodium channel gene has been shown as the cause of the syndrome. Objective To investigate mutations of SCNSA gene in Chinese Brugada syndrome. Methods Fifteen patients and their family members were screened for mutations by direct DNA sequeencing. Genomic DNAs were extracted from peripheral blood leukocytes. All 28 exons of SCNSA gene were amplified by PCR using 40 pairs of primers. The PCR products were sequenced directly. Results A novel single missence mutation, G5080A（R1628Q）, was identified, which caused the change of the structure of S4 in domain IV of a subunit coding for cardiac sodium channel. This mutation was not found in 150 unrelated normal individules. Conclusions A new mutation in domain IV of SCNSA were found in Chinese Brugada syndrome.

关 键 词：BRUGADA综合征 SCN5A基因 钠通道 猝死 

分 类 号：R541.7[医药卫生—心血管疾病] R541.710.4[医药卫生—内科学]