原发性二尖瓣脱垂综合征与血管紧张素转换酶基因I/D多态性的相关性

Relationship between angiotensin I-converting enzyme gene insertion /deletion polymorphism and mitral prolapse syndrome

目的 :探讨原发性二尖瓣脱垂综合征 (MVPS)与人类血管紧张素Ⅰ转换酶 (ACE)基因I/D多态性的相关性。方法 :研究 5 0例与对照组相匹配的经超声心动图诊断为MVPS患者 ,并分为轻、重度两亚组 ,重度MVPS患者经手术、病理及电镜检查 ;用多聚酶链反应技术检测MVPS患者与ACE基因I/D多态性的相关性。结果 :重度MVPS患者手术、病理及电镜检查均证实为原发性二尖瓣黏液样变性 ,胶原、弹力纤维溶解或离断。且重度MVPS患者其I等位基因频率 (0 .6 8)明显高于对照组 (0 .5 4 ) ,P <0 .0 5 ;轻度MVPS患者其Ⅰ等位基因频率 (0 .6 0 )高于对照组 (0 .5 4 ) ,但P >0 .0 5。结论 :MVPS患者尤其是重度MVPS患者显示典型的二尖瓣黏液样变性 ,且与ACE基因I/D多态性有显著相关 ,存在有ACE基因I等位基因的异常表达。而轻度MVPS患者与ACE基因I/D多态性无显著相关 。

Objective:To investigate the relationship between angiotension I-conventing enzyme gene polymorphism and mitral valve prolaps syndrome (MVPS).Method:Fifty patients with MVPS diagnosed by echocardiography and 70 age-and sex-matched normal subjects were studied, MVPS patients were classified into two groups (mild and severe MVPS), severe patients with MVPS were diagnosed by surgery, pathology and electron-microscope.ACE gene insertin/deletion(I/D) polymorphrphisms were identified by polymerase chain reaction-based restriction analysis.Result:Severe patients with MVPS were diagnosed as primary myxomatous degeneration by surgery, pathology and electron-microscope. Frequency of the ACE gene I allele in severe patients with MVPS( 0.68) was higher than that in normal subjectos ( 0.54),P< 0.05.Conclusion:The study indicate that patients with MVPS showe primary myxomatous degeneration; there is a significant relationship between angiotensin I-converting enzyme gene insertion/deletion polymorphism and mitral prolapse syndrome, and there is a abnormal expression of ACE gene I allele.