低密度脂蛋白受体基因型检测及其应用
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A Method for Low Density Lipoprotein Receptor Genotype
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    摘要:

    为分析低密度脂蛋白受体基因多态性对血脂水平的影响,用聚合酶链反应—限制片长多态性技术检测了81例血脂正常者和51例高胆固醇血症患者的低密度脂蛋白受体、载脂蛋白E基因型,并测定其血清脂质水平。结果表明“+”等位基因与高总胆固醇和高低密度脂蛋白胆固醇有关。在同一载脂蛋白E基因型背景下,低密度脂蛋白受体基因多态性对血脂水平影响模式不变。结果提示,低密度脂蛋白受体基因多态性影响人群的血清胆固醇水平,低密度脂蛋白受体和载脂蛋白E基因多态性可能是相互独立地影响血脂水平。

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    Aim To establish a method for low density lipoprotein receptor (LDLR) genotyping and research the relationship between genetic polymorphism of LDLR and variation in serum lipid levels. Methods The frequency distribution of LDLR, apo E genotypes and aelles were analysed in the method for LDLR, apo E genotyping using polymerase chain reaction restriction fragment length polymorphism (PCR RFLP), in samples of 81 unrelated normallipidaemic individuals and 51 hypercholesterolemia patients. And to examine the interaction effect on lipid level between the LDLR/AvaⅡ and apolipoprotein E polymorphisms. Results There is a significant relationship between“ + ”allele and high total cholesterol, LDL cholesterol levels. The apo E 3/2 and LDLR AvaⅡ(-/-) individual’s cholesterol level was lower than apo E 4/3 and LDLR AvaⅡ (+/+)individual’s. Conclusions The present study suggests that the LDLR polymorphism may be associated with interindividual variation in plasma cholesterol level. The effects of apo E and LDLR genes on cholesterol levels were independent from each other.

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郑芳,周新,鲁敏翔,胡波.低密度脂蛋白受体基因型检测及其应用[J].中国动脉硬化杂志,1999,7(1):75~78.

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