海南黎族冠心病患者胆固醇酯转运蛋白基因多态性测定及分析

目的探讨胆固醇酯转运蛋白（CETP）基因多态性在海南黎族人群冠心病发病中的作用。方法应用等位基因特异性PCR方法,对海南黎族47例冠心病患者（观察组）及330例健康查体者（对照组）的CETP基因6种多态位点进行检测,比较两组基因型频率和等位基因频率。结果两组TaqIB突变位点可检测出B1B1、B1B2、B2B23种基因型,I405V突变位点可检测出Ⅱ、Ⅳ、ⅤⅤ3种基因型,D442G突变位点可检测出DD、DG2种基因型;两组TaqIB突变位点的等位基因频率及D442G突变位点的基因型分布和等位基因频率存在显著差异（P〈0.05）。结论 CETP基因TaqIB和D442G位点的多态性与海南黎族人群冠心病显著相关;本研究样本数较少,有关CETP基因多态性与海南黎族人群冠心病的确切关系尚有待于开展大样本流行病学调查。

Determination of cholesterol ester transport protein gene polymorphism in patients with coronal heart disease from Hainan Li nationality

Objective To investigate the roles of cholesterol ester transport protein（CETP）gene polymorphism in the incidence of coronal heart disease in Hainan Li nationality.Methods The six polymorphic loci of CETP gene was probed with an allele specific-PCR（AS-PCR） in 47 patients with coronal atherosclerosis heart disease and 330 healthy controls from Hainan Li nationality.The frequencies of genotype and allele in the two groups were compared.Results The TaqIB locus was detected in B1B1,B1B2 and B2B2 three genotypes in the two groups,the I405V locus was detected in II,IV,and VV three genotypes,the D442G locus was detected in DD and DG two genotypes;The appearing frequencies of alleles at TaqIB and the distributions of genotypes and appearing frequencies of alleles at D442G loci in the two groups（P0.05）.Conclusions The polymorphism of TaqIB and D442G is significantly correlated with coronal heart disease in Hainan Li nationality.The B2 allele of TaqIB locus is the susceptibility gene,B1 allele has protective effects.The G allele of D442G is the susceptibility gene,and the DG genotype significantly increased the incidence of coronal heart disease in Hainan Li nationality.Sample size used in this research is not so big and the correlations between the polymorphism of CETP gene and coronary heart disease of Hainan Li nationality may be reveled by epidemiology research based on big quantity of samples.