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

目的：研究纤溶酶原激活物抑制物－１（ｐｌａｓｍｉｎｏｇｅｎ ａｃｔｉｖａｔｏｒ ｉｎｈｉｂｉｔｏｒ－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９２例，正常对照１０２例，提取外周血ＤＮＡ，进行聚合酶链反应（ｐｏｌｙｍｅｒａｓｅ ｃｈａｉｎ ｒｅａｃｔｉｏｎ，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１８～２９之间；青年（年龄≤４５岁）发病的ＡＭＩ组（５１例）ＰＡＩ－１基因ＣＡ拷贝数ｎ≤２１的例数明显高于对照组（５２例），中老年（年龄〉４５岁）发病的ＡＭＩ（４１例）与对照组（５０例）间基因型差异无显性。基因型与血浆ＰＡ

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

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.