摘要:
目的 探讨高脂血症患者载脂蛋白B,CⅢ,E中ApoB MspI,ApoB XbaI,ApoB EcorI,ApoCⅢ3175,ApoCⅢ3206,ApoE112/158等6个位点基因多态性的频率分布.方法 采用病例-对照相关性研究策略,选择昆明地区汉族作为研究对象,用基因芯片检测技术,对91例高脂血症患者及76例健康对照者进行上述6个位点基因多态性检测,用直接计算法计算其基因型及等位基因频率.结果 昆明地区汉族76例健康人群及91例高脂血症患者检测结果:①ApoB MspI位点的+/+,+/-基因型频率分别是0.618,0.382及0.978,0.022,差异有统计学极显著性意义(χ2=35.42,P=0.000),未检出-/-基因型;+和-的等位基因频率分别是0.809,0.191及0.989,0.011,差异有统计学极显著性意义(χ2=31.80,P=0.000).②ApoB XbaI位点的+/+,+/-,-/-基因型频率分别为0.013,0.145,0.842及0.000,0.077,0.923,差异无统计学显著性意义(χ2=3.259,P=0.195);+和-等位基因频率分别是0.086,0.914及0.038,0.962,差异无统计学显著性意义(χ2=3.70,P=0.071).③ApoB EcorI位点的+/+,+/-基因型频率分别是0.961,0.039及0.857,0.143,差异有统计学显著性意义(χ2=5.109,P=0.024),未检出-/-基因型;+和-等位基因频率分别是0.980,0.020及0.929,0.071,差异有统计学显著性意义(χ2=4.852,P=0.028).④ApoC Ⅲ3175位点的CC,CG,GG基因型频率分别是0.363,0.560,0.077及0.421,0.553,0.026,差异无统计学显著性意义(χ2=2.336,P=0.311);C和G等位基因频率分别是0.643,0.375及0.697,0.303,差异无统计学显著性意义(χ2=1.109,P=0.292).⑤ApoC Ⅲ3206位点的GG,GT,TT基因型频率分别是0.527,0.396,0.077及0.671,0.276,0.053,差异无统计学显著性意义(χ2=3.538,P=0.171);G和T等位基因频率分别是0.725,0.275及0.809,0.191,差异无统计学显著性意义(χ2=3.231,P=0.072).⑥ApoE112/158位点的E3/E3,E2/E3,E2/E4,E3/E4,E2/E2基因型频率分别是0.725,0.132,0.022,0.110,0.011,0.000及0.263,0.421,0.237,0.066,0.000,0.013,差异有统计学极显著性意义(χ2=49.21,P=0.000),其中E3/E4及E2/E3基因频率差异有统计学极显著性意义(χ2=35.41,17.85,P=0.000,0.000);E2,E3和E4等位基因频率分别是0.077,0.846,0.077及0.342,0.506,0.152,差异有统计学极显著性意义(χ2=47.42,P=0.000),未检出E4/E4基因型.结论 ①昆明地区汉族健康人群上述6个位点基因型多态性有地区特征.②昆明地区汉族高脂血症患者ApoE112/158位点基因型频率(E3/E3,E2/E3,E2/E4,E3/E4),AopB MpsI基因位点的基因型(+/+,+/-)与ApoCⅢ3175位点(CC,CG)基因型,ApoC Ⅲ3206位点的(GG,GT,TT)基因型与高脂血症易感性相关.