基础医学与临床 ›› 2010, Vol. 30 ›› Issue (7): 754-758.

• 研究论文 • 上一篇    下一篇

海南汉、黎族正常人群胆固醇酯转运蛋白基因的多态性

周代锋 蔡望伟 云美玲 张云霞 张勇 习隽丽 王镇   

  • 收稿日期:2009-11-17 修回日期:2010-01-12 出版日期:2010-07-05 发布日期:2010-07-05

Polymorphism of the CETP gene in the healthy population of Hainan Li and Han nationality

Dai-feng ZHOU, Wang-wei CAI, Mei-ling YUN, Yun-xia ZHANG, Yong ZHANG, Jun-li XI, Zhen WANG   

  • Received:2009-11-17 Revised:2010-01-12 Online:2010-07-05 Published:2010-07-05

摘要: 目的 了解海南汉、黎族正常人群CETP基因TaqIB、I405V、D442G、R451Q、A373P和I14A 6种多态位点频率的分布情况。方法 应用等位基因特异性PCR,分析海南汉、黎族正常人群CETP基因。结果 在海南汉、黎族正常人群中,TaqIB 、I405V和D442G多态位点可分别检测出B1B1、B1B2、B2B2 3种基因型,II、IV、VV 3种基因型和DD、DG 2种基因型,未检测到R451Q、A373P和I14A3种突变类型。I405V多态位点的基因型分布(P<0.0001)和等位基因频率(P<0.0001)在2组人群之间存在显著性差异,其余多态位点无统计学意义。结论 CETP基因TaqIB、I405V和D442G多态位点是海南汉、黎族正常人群中的常见突变位点,且I405V多态位点在2组人群之间存在明显的种族差异,R451Q、A373P和I14A 3种突变在海南汉、黎族人群中非常罕见。

关键词: 胆固醇酯转运蛋白基因, DNA多态性, 聚合酶链反应(PCR), 黎族, 汉族

Abstract: Objective To understand the frequency of the 6 Polymorphism sites in the CETP gene in the healthy population of Hainan Li and Han nationality: TaqIB、I405V、D442G、R451Q、A373P and I14A .Method We detected the mutations of the 6 Polymorphism sites in the CETP gene in the healthy population of Hainan Li and Han nationality by the special allele specific-PCR system and analyzed the data by the statistics method. Result 3 genotypes can be detected according to TaqIB Polymorphism site in both Hainan Han and Li humanity which is B1B1,B1B2 and B2B2.3 genotypes can also be detected according to I405V Polymorphism site in both Hainan Han and Li humanity which is II,IV and VV. 2 genotypes can be detected according to D442G Polymorphism site in both Hainan Han and Li humanity which is DD and DG .Mutation of R451Q、A373P and I14A3 can't be detected both in Han and Li humanity. Genotype frequency(P<0.0001) and allele frequency(P<0.0001) of polymorphism site I405V exist significant difference between Hainan Han and Li humanity,while the other polymorphism sites exist no significant difference. Conclusion The frequent mutation sites of CETP gene in Hainan Han and Li humanity is TaqIB、I405V and D442G, of which I405V exist significant differenc, while the mutations in R451Q、A373P and I14A are infrequent.

Key words: cholesterol ester transfer protein (CETP) gene, DNA polymorphism, polymerase chain reaction (PCR), Li nationality, Han nationality