中国先天性心脏病患者TBX1基因突变的研究  

Mutations of TBX1 Gene in Chinese Patients with Congenital Heart Defects

作　　者：黄莹[1] 徐佳伟[2] 吴小艳[2] 林雯[2] 金润铭[2] 孙宗全[3] 

机构地区：[1]湖北省襄樊市中心医院血液科,襄樊441021 [2]华中科技大学同济医学院附属协和医院小儿血液科,武汉430022 [3]华中科技大学同济医学院附属协和医院心外科,武汉430022

出　　处：《华中科技大学学报（医学版）》2009年第4期544-547,共4页Acta Medicinae Universitatis Scientiae et Technologiae Huazhong

基　　金：国家自然科学基金资助项目(No.30400484)

摘　　要：目的检测中国先天性心脏病患者TBX1基因突变以探讨TBX1基因突变与非综合征心脏畸形发生的相关性。方法应用聚合酶链反应-单链构像多态性(PCR-SSCP)技术对73例先天性心脏病患者和70例健康人样本的TBX1基因进行突变分析。结果先天性心脏病患者和对照组中均检测到928G→A核苷酸变异和933A→G核苷酸变异,经χ2检验,928G→A和933A→G核苷酸变异的频率在先天性心脏病患者和对照组之间差异均无统计学意义。结论在非综合征心脏畸形的发病机制中,TBX1基因突变可能不占主导地位。Objective To investigate the mutations of TBX1 gene in Chinese patients with congenital heart defects（CHD）,and study the relationship between mutations of TBX1 gene and nonsyndromic CHD.Methods Polymerase chain reaction-single stranded conformation polymorphism（PCR-SSCP） analysis was performed to analyze mutations of TBX1 in 73 patients with CHD and 70 healthy individuals.Results 928G→A and 933A→G sequence variations were detected in patients with CHD and healthy individuals.No significant difference was observed in frequency of the sequence variations between patients with CHD and healthy individuals.Conclusion TBX1 mutations are not likely to play a major role in nonsyndromic CHD.

关 键 词：TBX1基因 基因突变 先天性心脏病 聚合酶链反应-单链构像多态性技术 

分 类 号：R541.1[医药卫生—心血管疾病]