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目的对孤立性心房颤动(AF)患者进行垂体同型框2(PITX2)基因的突变扫描,并分析突变患者的相应临床特点。方法对160例孤立性AF患者和200名健康者的PITX2基因进行突变扫描。采用聚合酶链反应(PCR)扩增PITX2基因,通过单链构象多态性技术筛查突变,对发现异常的个体采用双脱氧核苷链末端合成终止法进行直接测序。采用Sequence scanner v 1.0软件分析测序图。结果在2例永久性AF患者中发现位于内含子区域的新改变g.766C>A、位于5’UTR区域的新改变g.8310C>T(c.-150C>T)。这两例携带者对药物及电复律治疗的反应较差,接受环肺静脉消融手术后,随访1年未再复发。200名健康者中未发现此改变。结论首次在中国孤立性AF患者中发现影响肺静脉肌袖发育基因PITX2的非编码区改变,其可能为我们进一步理解肺静脉肌袖在AF的发病过程中的作用提供新的启示。
Objective To investigate the mutation of PITX2 in patients with isolated atrial fibrillation (AF) and to analyze the clinical features of the patients with mutations. Methods PITX2 gene was amplified in 160 isolated AF patients and 200 healthy controls. The PITX2 gene was amplified by polymerase chain reaction (PCR) and screened by single-strand conformation polymorphism (PCR). The abnormal individuals were directly sequenced by dideoxynucleoside chain termination synthesis. Sequence scanner v 1.0 software was used to analyze the sequencing images. Results Two new cases of permanent AF were found in the intron region of the new changes g.766C> A, located in the 5’UTR region of the new changes g.8310C> T (c.-150C> T). The two carriers had poor response to drugs and cardioversion. After receiving pulmonary vein ablation, follow-up of 1 year did not recur. No changes were found in 200 healthy people. Conclusion For the first time, it is found that the non-coding region of PITX2, a gene involved in the development of pulmonary sleeve muscle sleeves, is found in isolated AF patients in China. This may provide new insights into the role of pulmonary sleeve in the pathogenesis of AF.