PAI-1基因启动子区4G/5G单核苷酸多态性与乳腺癌的相关性研究

The correlation between 4G/5G polymorphism located in the promoter region of PAI-I gene and breast cancer

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)多态性在温州地区的分布特点及其与乳腺癌之间的关系。方法 病例组 :5 3例乳腺癌患者。对照组 :在温州汉族人群中随机选取 14 6例女性为对照。应用聚合酶链式反应 (PCR)、聚丙烯酰胺凝胶电泳及银染显带技术对上述人群进行PAI- 1基因启动子区 4G/ 5G多态性分析。结果 (1)正常女性与正常男性比较 4G/ 4G、4G/ 5G、5G/ 5G基因型中 ,女性 5G/ 5G基因型高于男性 (χ2 =6 .6 2 6 P =0 .0 1)。 (2 )疾病和对照组的基因型和基因频率均无显著性差异 (P >0 .0 5 )。结论 (1)PAI- 1基因启动子区 4G/ 5G单核苷酸多态性随种族和地区的不同而存在差异。 (2 )PAI- 1基因启动子区单核苷酸插入 /缺失(4G/ 5G)遗传多态性与乳腺癌的发生发展可能没有直接相关性。

Objective: To investigate the relationship between the plasminogen activator inhibitor-1(PAI-1)promoter region gene polymorphism 94G/5G) and breast cancer. Methods: Peripheral blood beulocytes were collected from 146 nomal controls, 53 patients with breast cancer. The 4G/5G allele polymorphism in The PAI-1 gene promoter region of the leukocytes was genotyped by PCR followed by PAGE and silver stains. Results: (1) The frequency of 5G/5G genotype in nomal women was higher than that in nomal men (χ2=6.626 P=0.01) ?(2)There were no significant differences between breast cancer PAI-1 gene polymorphism and controls (P>0.05). Conclusion: (1)PAI-1 gene promoter region gene polymorphism (4G/5G0 varies with different races and regions. (2) The 4G/5G polymorphism may not be associated with appearance and/or progression of breast.