一个房室传导阻滞家系心脏钠离子通道α亚单位基因检测  

Detection of genetic variations on the cardiac sodium ion channel gene SCN5A in a family with atrioventricular block

作　　者：周熙惠[1,2] 惠智艳[1,2] 史瑞明[1,2] 白玲[1,2] 张葳[1,2] 马爱群[1,2] 

机构地区：[1]西安交通大学医学院第一附属医院 [2]西安交通大学环境与疾病相关基因教育部重点实验室离子通道病研究室,陕西西安710061

出　　处：《中国心脏起搏与心电生理杂志》2011年第5期392-395,共4页Chinese Journal of Cardiac Pacing and Electrophysiology

基　　金：国家自然科学基金项目(项目编号:30900580);西安交通大学自然科学基金项目(项目编号:Y100 573018)

摘　　要：目的研究一个房室传导阻滞(AVB)家系心脏钠离子通道α亚单位基因(SCN5A)的遗传变异情况。方法收集一个AVB家系的临床资料,采用聚合酶链反应及直接测序法对该家系进行SCN5A检测,对新发现的错义突变位点在家系外103例健康对照者中进行单链构象多态性分析。结果在AVB家系先证者中检测到了2个单核苷酸多态位点和1个外显子遗传变异,分别为c.87G>A(A29A)、c.5457T>C(D1819D)、c.3002T>A(L1001Q)。c.87G>A(A29A)和c.5457T>C(D1819D)是已经报道过的多态位点。c.3002T>A(L1001Q)是新发现的错义突变位点,位于第17号外显子,碱基的变异导致第1001位氨基酸由谷氨酰胺代替亮氨酸,家系中有5名成员携带c.3002T>A,但是103名健康对照者中未发现该变异。结论在一个AVB家系中发现了SCN5A基因新的遗传变异c.3002T>A(L1001Q)。Objective To investigate the genetic variations on the cardiac sodium channel gene SCNSA in a Chinese family with atrioventricular block. Methods Polymerase chain reaction and DNA sequencing were used to screen SCN5A genetic variation in the family members of a Chinese pedigree with atrioventricular block. If a new missense variant was identified, single strand conformation polymorphism analysis was performed in 103 healthy controls. Results Three genetic variations, which included a missense mutation（ L1001 Q） and two single nucleotide polymorphisms （c. 87G 〉 A, c. 5457T 〉 C）, were identified on SCNSA gene coding region in the proband with atrioventricular block, c. 87G 〉 A and c. 5457T 〉 C were reported polymorphism sites. The variant （c. 3002T 〉 A） ,which was in exon 17 and caused a L1001Q amino acid change, was reported for the first time. It was found in 5 individuals of the family, but not detected in 103 controis. Conclusion A novel missense variation（L1001Q） on SCNSA is found in this family with atrioventricular block.

关 键 词：心血管病学 房室传导阻滞 SCN5A 遗传变异 心律失常 衰老 

分 类 号：R541.76[医药卫生—心血管疾病] R541.7[医药卫生—内科学]