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[胆固醇结石病患者低密度脂蛋白受体基因位点的多态性]

[Polymorphism at the LDL receptor gene locus in patients with cholesterol gallstone disease].

作者信息

Feng D, Han T, Chen S

机构信息

Department of Surgery, Ruijin Hospital, Shanghai Second Medical University.

出版信息

Zhonghua Yi Xue Za Zhi. 1998 Jan;78(1):63-5.

Abstract

OBJECTIVE

To investigate the association between the dinucleotide repeat polymorphism at the 3' end of the LDL receptor gene and cholesterol gallstone disease.

METHODS

Polymorphism of the (dTA)n was amplified by using polymerase chain reaction, and the alleles identification was performed with denaturing polyacrylamide gel electrophoresis and silver stain technique.

RESULTS

Analysis of allele frequencies in 131 unrelated Chinese gallstone patients and 79 controls indicated that the C allele was more frequent in the patients with cholesterol gallstones than that in the controls (0.40 vs 0.27, P < 0.01), and the frequency of the BB genotype of the LDL receptor gene was markedly lower (P < 0.005), while the CC and BC genotypes were significantly higher in the patients with cholesterol gallstones than in the controls respectively (P < 0.05, P < 0.05).

CONCLUSION

The present study suggests that the LDL receptor gene polymorphism may be associated with cholesterol gallstone disease.

摘要

目的

探讨低密度脂蛋白受体基因3'端二核苷酸重复多态性与胆固醇结石病之间的关联。

方法

采用聚合酶链反应扩增(dTA)n多态性,并用变性聚丙烯酰胺凝胶电泳和银染技术进行等位基因鉴定。

结果

对131例无亲缘关系的中国胆结石患者和79例对照者的等位基因频率分析表明,胆固醇结石患者中C等位基因的频率高于对照组(0.40对0.27,P<0.01),低密度脂蛋白受体基因BB基因型的频率明显较低(P<0.005),而胆固醇结石患者中CC和BC基因型分别显著高于对照组(P<0.05,P<0.05)。

结论

本研究提示低密度脂蛋白受体基因多态性可能与胆固醇结石病有关。

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