冠心病的载脂蛋白AⅠ－CⅢ－AⅣ基因簇多态性分析

DNA Polymorphisms of the apo AⅠ-CⅢ-AⅣ gene cluster in coronary artery disease

为探讨载脂蛋白（ａｐｏ）ＡＩ－ＣＩＩＩ－ＡＩＶ基因簇的变异与冠心病的关系，应用ａｐｏＡＩ基因探针Ｓｏｕｔｈｅｒｎ杂交的方法，检测了４３例冠心病患者及６０例正常人ａｐｏＡＩ－ＣＩＩＩ－ＡＩＶ基因区域ＰｓｔＩ和ＳｓｔＩ酶切位点上限制性片段长度多态性（ＲＦＬＰｓ），结果表明，冠心病组中ＰｓｔＩ和ＳｓｔＩ酶切位点上少见Ｐ２和Ｓ２等位基因的相对频率高于正常对照组；Ｓ２等位基因的相对频率随冠状动脉病变支数的增多而增高，以３支病变增高最为明显；不同基因型的冠心病患者其部分血脂及氧自由基指标的变化水平不同。本研究结果提示，ａｐｏＡＩ－ＣＩＩＩ－ＡＩＶ基因区域ＰｓｔＩ和ＳｓｔＩ酶切点的基因变异可能与冠心病的发病及病变程度有一定关系。

Two polymorphic sites of the apolipoprotein AI (ApoAI) gene, PstI and SstI, were examined in a sample of 43 unrelated Chinese patients with coronary artery disease (CAD) and 60 unrelated healthy individuals.Allele frequencies were compared between patients and controls and their impact on lipid and oxygen free radicals metabolism were also studied. The frequencies of the uncommon P2 and S2 alleles in CAD cases were found as 0.14 and 0.22 respectively , which were significantly higher than 0. 05 and 0. 13 in controls. The more the number of vessel disease in CAD cases, the higher the frequencies of S2 alleles which were the highest in the group of 3 vessel diseases.Some serum lipid and oxygen free radicals levels differed between CAD cases of different genotypes. These data suggest that genetic variation in P2 and S2 alleles of APOAI gene may contribute to the development and extent of CAD in Chinese subjects.