心脑血管疾病患者胆固醇酯转运蛋白及某些基因缺陷  

Cholesteryl ester transfer protein levels and gene deficiency caused by two prevalent mutations in patients with cardiocerebrovascular diseases

作　　者：庄一义[1] 汪俊军[1] 强红娟[1] 李勇[1] 刘小传[1] 李露言[2] 陈光辉[2] 

机构地区：[1]南京军区南京总医院全军医学检验中心，南京 210002 [2]南京军区南京总医院，南京 210002

出　　处：《中华检验医学杂志》2001年第2期98-101,共4页Chinese Journal of Laboratory Medicine

基　　金：军队九五科研基金资助(96D025)

摘　　要：目的　分析心脑血管疾病患者和健康人血清胆固醇酯转运蛋白 (CETP)水平、CETPD44 2G和I14A突变频率和基因突变者血脂异常的特点。方法　 94例心肌梗死、110例脑卒中和 335名健康人 ,应用ELISA测定CETP浓度 ;合成14 C胆固醇酯标记的含载脂蛋白AI的双盘状、双层颗粒作基质测定CETP活性 ;并采用聚合酶链反应 限制性片断长度多态性分析CETP基因突变。结果　心梗组、脑卒中组CETP水平较健康人明显增高。心梗组、脑卒中组和健康人D44 2G检出率分别为 3 5 %、3 6 %和 5 % ;I14A检出率分别为 1.2 %、0 .9%和 1% ,其中 1名为健康人D44 2G纯合子。心梗、脑卒中患者两种CETP基因突变频率与健康人无差别。基因突变者CETP浓度和活性仅为非基因突变者1/3,并伴有血清高密度脂蛋白胆固醇升高 ,甘油三酯降低。结论　心脑血管疾病患者CETP水平升高 ;Objectives To detect cholesteryl ester transfer protein (CETP) levels, frequencies of CETP exon 15 missense mutation(D442G) and intron 14 splice donor(I14A) mutation and characteristics of abnormal lipid in patients with cardio cerebro vascular diseases. Methods 94 myocardial infarction survivors (MIS)、110 stroke patients and 335 healthy controls were selected. The CETP concentration was determined using ELISA. The CETP activity was measured using the substrate of 14 C radiolabeled discoidal bilayer particles. The CETP gene mutations were detected by PCR RFLP. Results The CETP concentration in MIS and stroke group was higher than that in controls. The frequencies of D442G in MIS, stroke and control group were 3.5%, 3.6% and 5% respectively, and the frequencies of I14A were 1.2%, 0.9% and 1% respectively. One case of D442G homozygote was detected from healthy group. The frequency of two CETP gene mutation had no significant difference in patients and controls. The CETP concentration and activity in subjects with CETP mutation were one thirds in controls. The level of HDL C increased in the mutation subjects, while TG level decreased. Conclusion The CETP level increases significantly in patients with cardio cerebro vascular diseases. The carriers of CETP deficiency had abnormality of CETP and lipids.

关 键 词：心肌梗死 脑血管意外 胆固醇酯类 基因频率 胆固醇酯转运蛋白 基因缺陷 

分 类 号：R446.1[医药卫生—诊断学]