先天性长QT间期综合征KVLQT1基因新的同义突变位点  

Mutations of KVLQT1 gene in familial long QT syndrome

作　　者：张守焰[1] 杨钧国[1] 康彩练[1] 李歧爱[2] 陈志坚[1] 胡骏[1] 李裕舒[1] 王秋芬[1] 应康[1] 

机构地区：[1]华中科技大学同济医学院心血管病研究所华中科技大学同济医学院附属协和医院心内科,武汉430022 [2]解放军第107医院心内科

出　　处：《临床心血管病杂志》2002年第4期145-147,共3页Journal of Clinical Cardiology

基　　金：卫生部科研经费资助课题 (No .98 1 130 )

摘　　要：目的 :研究中国人先天性长QT间期综合征 (LQTS)患者KVLQT1和HERG基因突变位点。方法 :采用聚合酶链反应和DNA测序对 11个LQTS家系KVLQT1和HERG基因跨膜编码区进行突变检测。结果 :①15例患者在国外已知的突变位点上 ,均未发现有突变。②发现KVLQT1基因 2个新的同义突变 (C6 36T ,G912A) ,位置分别在KVLQT1基因的S4、Pore跨膜片段。结论 :这Objective: To study mutation of KVLQT1 gene in Chinese family with long QT syndrome (LQTS).Method: Eleven Chinese families with LQTS were brought together for screening KVLQT1 gene mutation. Genomic DNA from each proband was examined by the polymerase chain reaction (PCR) and followed by direct DNA sequencing. Result:Two sense mutations(C636T,G912A)were found. The mutations were present in patients with LQTS, and absent in unaffected family members or in 100 normal, unrelated individuals.Conclusion: Two sense mutations were associated with LQTS. It may be related to Iks channel.

关 键 词：长QT间期综合征 KVLQT1基因 DNA突变 

分 类 号：R541.7[医药卫生—心血管疾病]