GNAS1基因T393C多态性与特发性室性心律失常的相关分析  

Association between T393C polymorphism of GNAS1 gene and idiopathic ventricular arrhythmias

作　　者：谭珍妮[1] 赖文岩[1] 邓伟[1] 孙少喜[1] 罗苑苑[1] 李蘅[1] 彭健[1] 

机构地区：[1]南方医科大学南方医院,广州510515

出　　处：《山东医药》2010年第20期7-9,共3页Shandong Medical Journal

基　　金：广东省科技计划项目(2008B030301142);南方医科大学南方医院新业务新技术院级课题(2008009)

摘　　要：目的分析Gs蛋白α亚基基因(GNAS1)T393C单核苷酸多态性(SNP)与特发性室性心律失常的相关性。方法分别选取特发性室性心律失常患者165例及健康对照162例,采用PCR-RFLP分析GNAS1基因T393C等位基因型及等位基因频率分布。结果两组基因型频率分布均符合Hardy-Weinberg平衡(P值分别为0.545 4和0.663 5)。T393C多态性等位基因型频率和等位基因频率在两组间比较具有显著性差异(P<0.01),CC基因型及393C等位基因的频率在病例组中显著增高。结论GNAS1基因T393C多态性与特发性室性心律失常有相关性。Objective To determine the relativity between T393C single nucleotide polymorphism（SNP）of GNAS1 which encodes the Gs protein α-subunit（Gsα） and idiopathic ventricular arrhythmias.Methods A total of 165 subjects with idiopathic ventricular arrhythmias were selected as case group and 162 healthy subjects as control group.The T393C polymorphism of GNAS1 was determined by PCR-RFLP.Results All observed genetype frequencies in both case group and control group were in Hardy-Weinberg equilibrium（P=0.545 4,0.663 5）.The differences of genetype frequencies and allele frequencies between two groups were significant（P0.01）,the CC genetype as well as the 393C allele were significantly more common in the case group than in the control group.Conclusion The T393C polymorphism of GNAS1 may be associated with idiopathic ventricular arrhythmias.

关 键 词：心律失常 GNAS1 T393C 多态性 单核苷酸 

分 类 号：R541.7[医药卫生—心血管疾病]