载脂蛋白AI基因启动子区域G→A置换与冠心病关系的研究  

The relationship between G→A substitution at position -78 bp in promoter of apoAI gene and coronary heart disease

作　　者：陈倩[1] 毛用敏[1] 崔让庄[1] 程津新[1] 赵燕行 朱天慧[2] 

机构地区：[1]天津心血管病研究所,天津300051 [2]南开大学医学院

出　　处：《临床心血管病杂志》2001年第4期149-151,共3页Journal of Clinical Cardiology

摘　　要：目的 :探讨载脂蛋白 AI(apo AI)基因启动子区域 - 78bp位点 G→ A置换与血浆高密度脂蛋白(HDL )含量及冠心病 (CHD)的关系。方法 :PCR扩增 apo AI基因启动子 - 2 5 9至 - 1bp DNA片段 ,限制性内切酶 Msp I酶切的 PCR产物 ,3%琼脂糖凝胶电泳分离酶切后的 DNA,确定基因型。结果 :共检测 CHD患者 16 9例(CHD组 ) ,健康对照者 115例 (正常对照组 )。两组间基因型及等位基因频率分布差异无显著性意义。总体看基因型不影响血浆 apo AI及高密度脂蛋白胆固醇 (HDL- C)水平。在 CHD伴 HDL- C低下的患者中 ,AA型纯合子例数 ,尤其是男性患者高于正常对照者 (P =0 .0 0 2 8)。结论 :AA纯合子并伴有 HDL- C低下的男性患者患 CHD的危险性可能会增加 ,应予以重视。Objective:To observe the relationship between G→A substitution at position -78 bp in promoter of apoAI gene and plasma HDL content as well as coronary heart disease.Method:PCR method was used to amplify apoAI gene promoter DNA fragment (from -259 to -1 bp).PCR product was digested with MspI.Three percent agarose electrophoresis was used to separate DNA fragment after digestion with MspI and to determine the gene type by different size of DNA bands.Result:The allele and genotype frequencies of AA,AG and GG in 169 patients with CHD and 115 controls were studied,which showed no significant difference between patients and controls.ApoAI and HDL levels were not affected by gene type.The number of AA genotype in CHD patients with low HDL,especially in men,was much higher than that of controls.Conclusion:People with AA genotype and low HDL levels,especially in male,are easier to develop atherosclerosis.

关 键 词：冠状动脉疾病 脂蛋白AI基因 高密度脂蛋白 基因多态性 冠心病 G→A置换 启动子 

分 类 号：R541.402[医药卫生—心血管疾病]