海南汉、黎族正常人群胆固醇酯转运蛋白基因的多态性  

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

作　　者：周代锋[1] 蔡望伟[1] 云美玲[2] 张云霞[1] 张勇[3] 习隽丽[3] 王镇[3] 

机构地区：[1]海南医学院生物化学教研室,海南海口571101 [2]海南医学院附属医院心内科,海南海口570102 [3]海南省老年病医院,海南海口571100

出　　处：《基础医学与临床》2010年第7期754-758,共5页Basic and Clinical Medicine

基　　金：海南省自然科学基金(琼科函[2004]37号-1);海南医学院苗圃基金(海医学[2005]47号-1)

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多态位点可检测出B1B1、B1B2、B2B2 3种基因型,I405V位点可检测出Ⅱ、Ⅳ、VV3种基因型,D442G位点可检测出DD、DG 2种基因型,未检测到R451Q、A373P和I14A 3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)在两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多态位点,且I405V多态位点在两组人群之间的分布存在明显的种族差异,R451Q、A373P和I14A3种突变在海南汉、黎族人群中非常罕见。Objective To understand the frequency of 6 polymorphism sites in CETP gene in healthy population of Li and Han nationalities in Hainan province： TaqIB,I405V,D442G,R451Q,A373P and I14A.Methods We identified the mutations of the 6 polymorphism sites in CETP gene in the healthy population of Li and Han nationality in Hainan province by the special allele specific-PCR system and analyzed the data by the statistics method.ResultsThree genotypes were detected according to TaqIB polymorphism site in both Han and Li as B1B1,B1B2 and B2B2.The genotypes were detected according to I405V polymorphism site in both Han and Li as Ⅱ,Ⅳ and VV.Two genotypes can be detected according to D442G polymorphism site in both Han and Li as DD and DG.Mutation of R451Q、A373P and I14A3 was not found in Han and Li.Genotype frequency（P0.000 1） and allele frequency（P0.000 1） of polymorphism site I405V exist significant difference between Han and Li humanity,while the other polymorphism sites exist no significant difference.Conclusion The frequent mutation sites of CETP gene in Han and Li in Hainan province are TaqIB,I405V and D442G,of which I405V exist significant differenc,while the mu-tations in R451Q,A373P and I14A are infrequent.

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 

分 类 号：R394[医药卫生—医学遗传学]