心脑血管疾病患者胆固醇酯转运蛋白及某些基因缺陷

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、CETPD442G和114A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GETP浓度；合成^14C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GETP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D442G检出率分别为3.5%、3.6%和5％；114A检出率分别为1.2%、0.9%和1％，其中1名为健康人D442G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ETP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；CETP基因突变者有显著的脂蛋白异常。

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

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　14C-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.