两个汉族Brugada综合征核心家系SCN5A基因单核苷酸多态性分析及新突变检测  

Polymorphic analysis and new mutations detection of SCN5A gene single nucleotide in two Brugada syndrome nuclear pedigrees

作　　者：秦皓轩 李菲[1] 许瑞[1] 周贤惠[1] 王顺凯 汤宝鹏[1] 

机构地区：[1]新疆医科大学第一附属医院心脏起搏电生理科,新疆乌鲁木齐830054

出　　处：《中国心脏起搏与心电生理杂志》2013年第6期511-515,共5页Chinese Journal of Cardiac Pacing and Electrophysiology

基　　金：新疆维吾尔自治区自然科学基金(2011211A066);新疆医科大学第一附属医院科研专项基金(2012YFY23)

摘　　要：目的研究两个汉族Brugada综合征家系成员相关基因SCN5A外显子的突变情况,探讨相关基因SCN5A外显子在新疆汉、哈、维族健康人群中的单核苷酸多态性(SNP)。方法已明确诊断为Brugada综合征的2位汉族患者及其家系成员共27人作为研究对象,同时纳入246例(汉族75人,哈族68人,维吾尔族103人)健康人群作为对照,采用聚合酶链反应(PCR)进行外显子序列扩增,双脱氧末端中止法进行核酸序列检测,测序结果经核酸序列比对软件(DNAMAN)比对、在线基因序列筛查(http://genome.ucsc.edu/及http://blast.ncbi.nlm.nih.gov/)检测相关基因SCN5A外显子的突变情况,运用统计学软件分析目标基因SNP。结果在2个已明确诊断为Brugada综合征患者SCN5A基因的7号外显子上发现了一个突变位点(T909-),在2个Brugada综合征家系其余7名家族成员中同样发现了该突变位点,健康对照人群中共有29人存在T909-突变。通过比对筛查,T909-突变在SNP数据库中尚没有记录,且T909-在2个Brugada综合征家系及健康汉族人群基因型频率和等位基因频率分布有显著性差异(P<0.05),在汉族、哈族、维吾尔族健康人群中基因型频率分布及等位基因频率分布无显著性差异(P>0.05)。结论 T909-可能是Brugada综合征患者SCN5A基因一个新的突变位点,该突变位点多态性在汉族、哈族、维吾尔族健康人群中分布可能无差异。Objective To investigate the mutations of SCN5A gene single nucleotide polymorphism（ SNP） in two Chinese Brugada syndrome families and to understand the gene polymorphism of SCN5A in three different ethnic groups included Han, Kazak and Uygur in Xinjiang. Methods Two patients who had been diagnosed as Brugada syndrome and their family members were incorporated as research subjects,246 healthy person（ Han 75,Kazak 68,Uygur 103） were included as a control. Polymerase chain reaction（ PCR） was used to amplify the exon sequences and direct DNA sequences,which were used for mutations,The sequencing results were screened by DNAMAN,UCSC,NCBI gene Bank,nucleic acid sequence detection and statistical analysis to understand the gene polymorphism. Results One mutation site（ T909-） on exon 7 of SCN5A was found in two Brugada syndrome patients and some other family members,totally 29 person had the T909- mutation in the group of healthy people. By comparing and screening,T909-had not yet been recorded in SNP database,And there was a significant statistically difference（ P 0. 05） of T909-Genotype frequencies and Allele distribution between the healthy Han group and Brugada syndrome families,and there was no significant statistically difference（ P 0. 0 5） in Han,Kazak and Uygur. Conclusion The T909- on exon7 may be a new mutation,The distribution of the sites may not vary among different ethnicities.

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

分 类 号：R541.7[医药卫生—心血管疾病]