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目的 研究纤溶酶原激活剂抑制物 1(plasminogenactivatorinhibitor 1,PAI 1)基因启动子区单核苷酸插入 /缺失 (4G/ 5G)多态性和血浆PAI 1活性与血栓性疾病之间的关系。方法 病例组 :2 35例有心绞痛史的患者 ,2 0 0例心肌梗死患者 ,71例脑梗塞患者。对照组 :30 2例正常人。分别进行PAI 1基因启动子区 4G/ 5G多态性分析 ,并对其中 116例患者和 90例正常人进行血浆PAI 1活性测定 ,同时检测血糖、血脂、血压、体重指数。用酚、氯仿方法抽提DNA。血浆PAI 1活性测定采用发色底物法。结果 (1)病例组与对照组比较 ,4G/ 4G基因型频率较高 ,差异有显著性 (P =0 .0 2 2 ) ;(2 ) 4G/5G基因多态性与血浆PAI 1活性存在显著相关性 (P =0 .0 0 1) ,以 4G/ 4G基因型血浆PAI 1活性最高 ;(3)病例组 4G/ 4G基因型的血浆PAI 1活性与血糖、甘油三酯存在相关性 ;(4 ) 4G/ 4G基因型的血浆PAI 1同时与血糖、甘油三酯、胆固醇、体重指数成正相关。结论 病例组 4G/ 4G基因型频率较高 ,血浆PAI 1活性较高 ,其血浆PAI 1活性与血糖、甘油三酯、胆固醇、体重指数存在基因依赖关系 ,是血栓性疾病发病主要原因之一
Objective To investigate the relationship between single nucleotide insertions / deletions (4G / 5G) polymorphisms in plasminogen activator inhibitor 1 (PAI 1) promoter and plasma PAI 1 activity and thrombotic diseases . Methods Case group: 235 patients with a history of angina, 200 patients with myocardial infarction, 71 patients with cerebral infarction. Control group: 30 2 normal people. The 4G / 5G polymorphism of PAI1 gene promoter region was analyzed respectively. The plasma PAI1 activity was measured in 116 patients and 90 normal subjects. Blood glucose, blood lipid, blood pressure and body mass index were also measured. With phenol, chloroform extraction DNA. Plasma PAI 1 activity assay using chromogenic substrate method. Results (1) The frequency of 4G / 4G genotype was significantly higher in case group than in control group (P = 0. 022). (2) The 4G / 5G polymorphism and PAI1 activity in plasma The plasma PAI 1 activity of 4G / 4G genotype was the highest (P = 0.0001). (3) The plasma PAI 1 activity of 4G / 4G genotype was correlated with the presence of glucose and triglyceride in case group. (4) The plasma PAI 1 of 4G / 4G genotype was positively correlated with blood glucose, triglycerides, cholesterol and body mass index. Conclusions The frequency of 4G / 4G genotype is higher in patients with genotypes and PAI1 activity in plasma is higher. The activity of PAI1 in plasma has a gene-dependent relationship with blood glucose, triglyceride, cholesterol and body mass index, which is one of the major causes of thrombotic diseases