国人确诊及疑似Brugada综合征患者SCN5A基因变异筛查  

The gene screening of SCN5A variation in Chinese patients with diagnostic and suspected Brugada syndrome

作　　者：仇晓亮[1] 刘文玲[1] 胡大一[1] 路亚枫[2] 李蕾[1] 孙艺红[1] 李翠兰[1] 

机构地区：[1]北京大学人民医院心脏中心,北京100044 [2]首都医科大学附属北京同仁医院,北京100730

出　　处：《中国心脏起搏与心电生理杂志》2009年第3期204-208,共5页Chinese Journal of Cardiac Pacing and Electrophysiology

基　　金：北京市科技新星计划项目(合同号2004-BG-01);国家985-Ⅱ期工程项目(985-2-034-24);973重大基础项目(2007CB512002)

摘　　要：目的探讨国人Brugada综合征(BrS)患者及疑似者中SCN5A基因变异情况。方法对5例确诊和12例疑似BrS患者及部分家属进行临床分析并随访,用直接测序法检测SCN5A基因多态/突变情况。结果在1例确诊者中发现R1913C错义突变;在17例患者中共发现10种单核苷酸多态性(SNPs)位点,分别为G87A、703+130G>A、1141-3C>A、A1673G、G3578A、3840+73G>A、4245+81G>T、4245+82A>G、4299+53T>C、T5457C。其中在1例疑似患者中发现的位点4245+81G>T为首次报道。结论首次在BrS患者中发现R1913C突变;同时在一例疑似患者中发现了1种新SNP4245+81G>T。Objective To investigate the SCNSA variations in Chinese patients with diagnostic or suspected Brugada syndrome （BrS）. Methods Clinical features of 5 probands with BrS and 12 suspected patients and some family members were evaluated. In addition, most of them were followed up after registry. Direct sequencing was used to screen SCN5A to detect polymorphisms/mutations. Results A missense mutation R1913C was identified in 1 of 5 probands with BrS . 10 single nucleotide polymorphisms （SNPs） were found in 17 patients： G87A, 703 ＋ 130G 〉 A, 1141-3C 〉 A, A1673G, G3578A,3840 ＋ 73G 〉 A,4245 ＋ 81G 〉 T,4245 ＋ 82A 〉 G, 4299 ＋ 53T 〉 C and T5457C. Among them 4245 ＋ 81G 〉 T was a novel SNP in one suspected BrS patient. Conclusion For the first time a missense mutation R1913C is identified in a patient with BrS and 1 novel SNP is found in one suspected patient.

关 键 词：心血管病学 BRUGADA综合征 SCN5A 突变 单核苷酸多态性 

分 类 号：R541.7[医药卫生—心血管疾病] R596.1[医药卫生—内科学]