纤溶酶原激活物抑制物-1基因短串联重复序列多态性与心肌梗死关系的研究  

Relationship of polymorphism of short tandem repeats in the plasminogen activator inhibitor-1 gene with myocardial infarction.

作　　者：富路[1] 张翠丽[1] 沈景霞[1] 郭桂玲 孙心海 金红[1] 黄永麟[1] 

机构地区：[1]哈尔滨医科大学第一临床医学院心内科,150001

出　　处：《中华心血管病杂志》2000年第6期440-442,共3页Chinese Journal of Cardiology

摘　　要：目的　研究纤溶酶原激活物抑制物 1(plasminogenactivatorinhibitor 1,PAI 1)基因内含子3中CA二核苷酸重复序列的多态性 ,分析其与血浆PAI 1活性及急性心肌梗死 (AMI)发生情况的相互关系。方法　选择AMI患者 92例 ,正常对照 10 2例 ,提取外周血DNA ,进行聚合酶链反应(polymerasechainreaction ,PCR)扩增、变性聚丙烯酰胺凝胶电泳及银染。结果　检测出存在于汉族人中的 12种PAI 1基因CA二核苷酸重复序列基因型 ,CA拷贝数在 18～ 2 9之间 ;青年 (年龄≤ 45岁 )发病的AMI组 (5 1例 )PAI 1基因CA拷贝数n≤ 2 1的例数明显高于对照组 (5 2例 ) ,中老年 (年龄 >45岁 )发病的AMI(4 1例 )与对照组 (5 0例 )间基因型差异无显著性。基因型与血浆PAI 1活性相关 ,拷贝数越少 ,PAI 1活性越高 ;极低密度脂蛋白 (verylowdensitylipoprotein ,VLDL)及血糖增高时 ,PAI 1活性亦增高。结论　PAI 1活性增高可能促进AMI的发生 ;青年的AMI患者基因中可能存在影响PAI 1基因表达的序列异常 ;中老年的AMI患者遗传并非其主要致病因素 ;VLDL和血糖可能对PAI 1基因表达起调节作用。Objective To analyze the polymorphism of CA dinucleotide repeat sequence in the intron 3 of plasminogen activator inhibitor 1 (PAI 1) gene and to determine the correlation of the genotypes and PAI 1 activity with acute myocardial infarction (AMI). Methods The polymerase chain reaction (PCR) was employed to amplify the PAI 1 gene from the blood of 92 patients with AMI and 102 healthy people as a control group, and the PCR products were further analyzed by denaturing polyacrylamide gel electrophoresis with silver staining. Results Twelve allele dinucleotide repeat genotypes were found at the PAI 1 locus. The number of dinucleotide repeats was from 18 to 29. The number of patients with shorter dinucleotide repeats was significantly higher in AMI group (51 patients) at a young age than that in control group (52 patients), while no significant difference was found in the genotypes between the elder groups of AMI (41 patients)and the control (50 patients). Furthermore, there was correlation between the genotypes and the plasma PAI 1 activity. The shorter the dinucleotide repeats, the higher the level of plasma PAI 1 activity. In addition, the higher level of PAI 1 activity was often found in the patients with higher level of very low density lipoprotein (VLDL) or glucose. Conclusion PAI 1 may play an important role in the development of AMI. The patients with AMI at a young age may have the sequence variation that might affect the expression of PAI 1 gene. However, heredity may not be the main cause for the elder patients to develop AMI. Otherwise, VLDL and glucose may regulate the expression of PAI 1 gene according to the study.

关 键 词：PAI-1 急性心肌梗塞 基因 CA短串联重复序列 

分 类 号：R542.22[医药卫生—心血管疾病]