心源性晕厥1个家系临床调查及CACNB2b基因突变检测  

Clinical investigation and mutation detection in CACNB2b Gene of a cardiac syncope family

作　　者：宋冰雪[1] 白鸿远[1] 倪雅娟[1] 卓小桢[1] 卢群[1] 马爱群[1] 

机构地区：[1]西安交通大学第一附属医院心内科,西安710061

出　　处：《中国实用内科杂志》2013年第4期300-303,共4页Chinese Journal of Practical Internal Medicine

基　　金：国家自然科学基金重点项目(30830051)

摘　　要：目的评估心源性晕厥合并早期复极、不典型Brugada综合征心电图表现的家系临床特征及CACNB2b基因突变,确定是否存在新的CACNB2b基因突变位点及其与该家系临床特征的相关性。方法 2010-11-28对陕西1个心源性晕厥家系50名成员进行临床资料采集,提取DNA,采用PCR技术扩增目的基因,对PCR产物进行DNA测序,使用Genbank Blast程序比对测序结果以确定突变位点。结果 发现17例无晕厥症状的家系成员的心电图存在早期复极或不典型Brugada综合征表现,同时,包括先证者在内的7名成员存在相同的CACNB2b基因同义突变(C1539T)。结论 该心源性晕厥家系成员晕厥的发生及心电图的特征性表现可能与CACNB2b基因同义突变存在相关性。Objective To elucidate the electrocardiogram characteristics of patients with cardiac syncope complicated early repolarization and atypical Brugada syndrome in a cardiac syncope family and detect mutations in CACNB2b gene, and then to explore the correlation between the clinical characteristics and mutations. Methods Clinical data were collected from the proband and his 49 family members. Genomic DNA was extracted from the peripheral blood leukoeytes, and then amplified by polymerase chain reaction （PCR）. The PCR product was sequenced to screen all exons of CACNB2b gene,which were compared with the DNA seqttences of CACNB2b in GenBank. Results The electrocardiograms with early repolarization or atypical manifestations of Brugada syndrome were found in 17 members. Meanwhile, a sense mutation （C1539T） was found in CACNB2b gene of the proband and other 6 family members. Conclusion The cardiac syncope symptom and the electro- cardiogram characteristics of the family may be related with the sense mutation of CACNB2b gene.

关 键 词：心源性晕厥 CACNB2b基因 早期复极 BRUGADA综合征 同义突变 

分 类 号：R541.7[医药卫生—心血管疾病]