PAI-1启动子区插入/缺失(5G/4G)多态性与脑血管病的相关性研究

来源 :中华医学遗传学杂志 | 被引量 : 0次 | 上传用户:heixianshengzhs
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目的 初步探讨人类纤溶酶原激活物抑制物 - 1(plasminogen ativator inhibitor- 1,PAI- 1)启动子区基因多态性与脑血管病的关系 ,及其在脑血管病发病过程中的作用。方法 通过多聚酶链反应技术和发色底物法 (EL ISA) ,测定了 96例脑卒中患者和 6 0名健康对照者的白细胞 PAI- 1启动子区 4G/ 5 G多态位点的基因型及血浆 PAI- 1活性。结果 脑梗死 (cerebral infarction,CI)组血浆 PAI- 1活性明显高于脑出血 (cerabral hemorrhage,CH)组及对照组 ,脑梗死和脑出血组中均以纯合子 4G/ 4G基因型患者的 PAI-1血浆活性水平最高 ,5 G/ 5 G基因型最低 ,杂合子 4G/ 5 G基因型居中 ;4G纯合子基因型与其它二型之间比较差异均有显著性 ,4G/ 5 G与 5 G/ 5 G基因型之间比较差异无显著性。CI组 4G/ 4G纯合子基因型与对照组比较差异有显著性 (P<0 .0 5 ) ,CI组基因型与 CH组及 CH组与对照组基因型比较差异均无显著性 (P>0 .0 5 )。CI组女性 4G纯合子基因型患者血浆 PAI- 1活性与同型男性患者比较差异有显著性 (P<0 .0 5 )。结论 纯合子 4G/ 4G基因型可能是 CI发病的危险因素之一 ,4G纯合子个体可能具有较高的 CI发病倾向 ,尤其可能与女性 CI发病相关 Objective To investigate the relationship between polymorphism of PAI-1 promoter region and cerebrovascular disease and its role in the pathogenesis of cerebrovascular disease . Methods The genotypes of 4G / 5 G polymorphism in PAI-1 promoter region of white blood cells in 96 stroke patients and 60 healthy controls were determined by polymerase chain reaction and ELISA. And plasma PAI-1 activity. Results The plasma PAI-1 activity in cerebral infarction (CI) group was significantly higher than that in cerebral hemorrhage (CH) group and control group. The levels of PAI-1 in homozygous 4G / 4G genotype in cerebral infarction and intracerebral hemorrhage group were significantly higher than those in control group 1 had the highest level of plasma activity, the lowest genotype of 5 G / 5 G and the homozygous 4G / 5 G genotype. The 4G homozygote genotype was significantly different from the other two genotypes. The ratio of 4G / 5 G to 5 G / 5 G genotype was no significant difference between. The genotypes of 4G / 4G homozygote in CI group were significantly different from those in control group (P <0.05). There was no significant difference in genotype between CI group and CH group and CH group and control group (P> 0 .0 5). PAI-1 activity in plasma of patients with homozygote 4G genotype of CI group was significantly different from that of the same type of male patients (P <0.05). Conclusion The homozygote 4G / 4G genotype may be one of the risk factors for CI. 4G homozygote individuals may have a higher incidence of CI, especially related to the incidence of CI in women
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