胆囊胆固醇结石病与载脂蛋白AI-CIII-AIV基因PstI、SstI位点多态性关联的临床实验研究

A Study on Apolipoprotein AI、CIII and AIV Gene Cluster Polymorphisms at PstI、SstI sites in Relation to Patients with Gallstone

目的探讨载脂蛋白AI-CIII-AIV基因簇多态性与胆囊胆固醇结石病的关系,揭示胆固醇结石病的遗传易感性。方法应用多聚酶链反应技术(PCR)对161例胆固醇结石病患者及94例正常人载脂蛋白(Apo)AI-CIII-AIV基因簇的限制性片段长度多态性(RFLP)进行研究,检测ApoAI-CIII-AIV基因位点PstI、SstI。结果胆石组P1P1基因型和P1等位基因频率明显低于对照组,P1P2和P2P2基因型以及P2等位基因频率明显高于对照组(P<0.05),SstI酶切位点的基因型和等位基因频率在两组间的分布无显著性差异。结论ApoAI-CIII-AIV基因簇PstI位点的多态性可能与女性胆囊胆固醇结石病有关联。

Objective： To investigate the frequency of variant at PstI, SstI sites of apolipopretein （APO） AⅠ - CⅢ - AⅣ gene cluster and its relation to cholesterol gallstone in Chinese patients. Methods： Restriction fragment length polymorphisms （RFLP） at PstI, SstI sites of ApoAⅠ- CⅢ- AⅣ gene cluster were studied using polymerase chain reaction （PCR） in 161 patients with cholesterol gallstone and 94 healthy subjects from a Chinese population in Sichuan Province. Results： The frequencies of P allele were significantly difference between gallstone group and control group （P〈 0.05）, but no differences were found in the frequency of S alleles （P 〉 0.05） . Conclusions： The data showed that PstI RFLP of ApoAⅠ - CⅢ - AⅣ gene cluster is associated in some extent with cholesterol gallstone in Chinese patients.