载脂蛋白AI基因的基因型与冠心病临床表现型的关系  

ASSOCIATION OF THE GENOTYPES OF APOLIPOPROTEIN AI GENE WITH CLINICAL PHENOTYPES IN CORONARY ARTERY DISEAE

作　　者：但青宏[1] 黄元伟[1] 彭章平[1] 刘忠[1] 韩阳[1] 金争鸣[1] 孙坚[1] 

机构地区：[1]浙江医科大学附属第一医院心血省研究室,空军杭州疗养院

出　　处：《中华医学遗传学杂志》1995年第6期337-340,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金

摘　　要：对４３例经冠状动脉造影证实的冠心病患者及６０例正常人载脂蛋白（Ａｐｏ）ＡＩ基因ＰｓｔⅠ酶切位点限制性片段长度多态性（ＲＦＬＰｓ）进行检测，结果表明：冠心病组中少见Ｐ２等位基因的相对频率为０．１４，明显高于正常对照组的０．０５（Ｐ＜０．０５）；Ｐ２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；冠心病组中具Ｐ１Ｐ２基因型者与具Ｐ１Ｐ１基因型者比较，ＨＤＬ－Ｃ和ＳＯＤ水平明显降低（Ｐ分别＜０．０１，＜０．０５），而ＴＣ及ＬＰＯ水平则明显增高（Ｐ分别＜０．０５，＜０．０５），提示ＡＰＯＡＩ基因ＲＦＬＰｓ的变异可能与冠心病发病及病变范围有一定关系，ＡＰＯＡＩ基因的基因型可能对冠心病临床表现型有一定影响。Pst Ⅰ restriction fragment length polymorphisma of the apolipoprotein AI(ApoAI)gene was investigated in a sample of 43 patients with documented coronary artery disease(CAD)and 60 healthy individuals selected from a population of Chinese Han nationality.The frequency of the rare P2 allele(3.3kb)was 0.14 in CAD cases,which was higher than that(0.05)in the controls(P<0.05).And the more the vessels were diseased in CAD cases,the higher the frequency of P2 allele was noted;the frequency of P2 allele was the highest in the group of 3-vessel disease.In the group of CAD cases,the genotype of P1P2 was associated with lower levels of HDL-C and SOD and higher levels ofTC and LPO compared with the genotype of P1P2.Therefore,it is suggested that genetic variation at Pst Ⅰ site of Apo AI gene may contribute to the development of CAD and the genotypes of APOAI gene may have an impact on the diverse clinical phenotypes in CAD cases.

关 键 词：冠心病 载脂蛋白 基因型 临床表现型 

分 类 号：R541.4[医药卫生—心血管疾病]