天津医药

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ABCA1基因启动子区域VNTR-ZNF位点多态性与血浆HDL水平的关系

高慎霞1,毛用敏2,陈倩3,赵莉莉。4,崔让庄2   

  1. 1. 天津医科大学
    2. 天津市胸科医院
    3. 天津市胸科心血管病研究所
    4. 天津市胸科医院心研所
  • 收稿日期:2010-08-13 修回日期:2010-12-10 出版日期:2011-05-15 发布日期:2011-05-15
  • 通讯作者: 高慎霞

Frequency Distribution of VNTR-ZNF ACCCC Inserted and Deleted Polymorphism in the Promoter Region of ATP-binding Cassete Transporter 1 and the Association with Plasma Level of High-density Lipoprotein

  • Received:2010-08-13 Revised:2010-12-10 Published:2011-05-15 Online:2011-05-15

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摘要： 摘要 目的：探讨腺苷三磷酸结合盒转运体A1(ABCA1)基因启动子区域VNTR-ZNF位点多态性的分布频率及其与血浆高密度脂蛋白(HDL)水平的关系。方法:共选天津地区实验者255例，其中冠心病（CHD）组166例，正常对照组99例，采用PCR扩增法和聚丙烯酰胺凝胶电泳对VNTR-ZNF位点ACCCC插入和缺失进行检测。结果：被检者ABCA1基因VNTR-ZNF位点等位基因频率插入型为0.325，缺失型0.714，基因型频率分别为插入型6.7%，缺失型45.5%，插入/缺失型51.8%，三种基因型频率和等位基因频率在两组间分布无显著性差异，血浆HDL含量在三种基因型中亦无显著性差异(P>0.05)，结论：天津地区ABCA1基因VNTR-ZNF位点缺失型分布显著高于欧洲地区，此基因变异对血浆HDL水平无明显影响。

关键词: 腺苷三磷酸结合盒转运体A1, 高密度脂蛋白, 基因多态性

Abstract: Abstract Objective:To invstigate the frequency distribution of VNTR-ZNF ACCCC inserted and deleted polymorphism in the promoter region of ATP-binding cassete Transporter 1(ABCA1) and the association with plasma level of high-density lipoprotein (HDL). Methods: A total of 265 cases were recruited from Tianjin district,including166 patients with coronary heart disease (CHD) and 99 healthy donors. The corresponding DNA fragments were amplified with PCR and the genotypes were separated by polyarcrylamide gel electrophoresis. Results:the allele frequences of inserted form and deleted form of VNTR-ZNF were 0.325,0.714,and the genotypic frequencies of VNTR-ZNF were 6.7% for the inserted form ,45.5% for the deleted form and 51.8% for the inserted/ deleted form,but the frequency distribution of allele and genotype didn’t significantly differ between CHD and contol groups and there were no significant differences of HDL level in three different genotypes .Conclusion: the frequency of deleted form of VNTR-ZNF in ABCA1 in Tianjin district was markedly higher than that in European district ,but the variation of ABCA1 VNTR-ZNF was not associated with plasma level of HDL.

Key words: ATP-binding cassete Transporter 1, high-density lipoprotein, polymorphism