载脂蛋白B基因EcoR I、Xba l及Msp I位点多态性的联合作用与血脂的相关性研究

目的探讨新疆石河子地区汉族人载脂蛋白B(apoB)基因EcoR I、Xba I及Msp I位点多态性的联合作用与血脂异常的相关性。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,检测247例血脂异常组和221例对照组apoB基因多态性,并测定其总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)、apoB、载脂蛋白AI(apoAI)。结果对照组和血脂异常组各基因型组合的总体分布不同(P0.01),组合3和组合5频率显著高于对照组,差异有统计学意义(P均0.01);血脂异常组组合3的apoB水平明显高于血脂异常组的平均水平(P0.01),apoAI/apoB均显著低于本组中其他组合的平均水平,组合5的apoAI/apoB水平低于本组中其他组合平均水平(P0.05)。结论 apoB基因三个位点基因型多态性组合中,组合3和组合5与新疆石河子地区汉族人血脂异常相关,其机制可能与基因变异引起apoB、apoAI/apoB的变化有关。

Study on relationship between joint action of EcoR I,Xba I and Msp I polymorphisms of apoB gene and dyslipidemia

Objective To explore the relationship between polymorphisms of EcoR I,Xba I and Msp I of apoB gene and dyslipidemia in Han People in Shehezi,Xinjiang.Methods Two hundred and twenty one normal persons and 247 patients with dyslipidemia were involved in this study.The polymorphism of apoB was analyzed by PCR-PFLP.The serum levels of TC,TG,LDL-C,HDL-C and apolipoproteins apoB and apoA I were examined.Results ① Frequency of genotypic combination was different in dyslipidemia group in comparison with their controls（P0.01）.Frequency of genotypic combination 3 and 5 was significantly higher in dyslipidemia group in comparison with that of control group.② ApoB in genotypic combination 3 was higher and apoAI/apoB in genotypic combination 3 was lower in comparison with other polymorphism combination as an unit in dyslipidemia group（both P0.01）.ApoAI/apoB in genotypic combination 5 was also lower than other combination in dyslipidemia group（both P0.05）.Conclusion Genotypic combination 3 and 5 may be related to dyslipidemia,and perhaps these phenomena bring about increased apo B and decreased apoAI/apoB,and they are related with disorder of blood lipids.