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广州地区汉族人群LDL受体基因Hinc Ⅱ多态性及其与高血清胆固醇的相关性研究 被引量:1

The Hinc Ⅱ polymorphism at the human LDL receptor gene and its relation to hypercholesterolemia in Southern China
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摘要 目的 研究低密度脂蛋白 (LDL)受体基因外显子 12中HincⅡ限制性片段多态性在广州地区正常人群及高血清胆固醇患者中的频率分布 ,分析基因型与高血清胆固醇之间的相关性。方法 应用多聚酶链反应结合限制性酶切方法 ,对 5 0例健康体检者和 5 0例高血清胆固醇患者进行LDL受体基因多态性进行检测。结果 在正常对照组中 ,C等位基因 (具有HincⅡ酶切位点 )频率为 0 71,T等位基因(无HincⅡ酶切位点 )频率为 0 2 9;在高血清胆固醇组中 ,C等位基因出现的频率为 0 74,T等位基因的频率是 0 2 6。两组间无显著性差异。结论 广州地区汉族人群LDL受体基因中存在着HincⅡ多态性位点。 Objective To detect HincⅡ polymorphism in low density lipoprotein (LDL) receptor gene, and to analysis its relation to high LDL cholesterol levels in the Han nationality of Southern China. Methods Polymerase chain reaction combined with restriction enzyme digestion was used to determine Hinc Ⅱ polymorphism at the human LDL receptor gene in 50 subjects with high total serum and LDL cholesterol levels and 50 controls. Results C allele (with Hinc Ⅱ cut site) frequency was 0.71 and T allele (no Hinc Ⅱ cut site) frequency was 0.29 in control group. The C allele frequency was 0 74, and T allele frequency was 0 26 in patient group. There is no significance difference between the control and patient group in Hinc Ⅱ polymorphism ( P>0.05 ). Conclusion The Han nationality of Southern China has HincⅡ polymorphism at the human LDL receptor gene. But it may be not involved in the pathogensis of high LDL cholesterol levels.
出处 《岭南心血管病杂志》 2001年第3期163-165,共3页 South China Journal of Cardiovascular Diseases
基金 广东省自然科学基金 (95 0 64 4 )
关键词 LDL受体基因 聚合酶链反应-限制性片段长度多态性 高血清胆固醇 汉族 LDL receptor gene\ polymerase chain reaction/restriction fragment length polymorphism\ LDL cholesterol
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