摘要
为探讨胆固醇酯转运蛋白基因突变对低密度脂蛋白亚组分颗粒大小的影响 ,采用聚合酶链反应片段长度多态性技术检测 2 0 0例冠心病患者胆固醇酯转运蛋白基因 15外显子D44 2G错义突变 ,并分析低密度脂蛋白颗粒直径及图形。共检测出 6例杂合子和 1例纯合子突变 ,冠心病患者该基因突变率为 3.5 %。突变患者 (7例 )低密度脂蛋白颗粒直径显著大于非突变患者 (4 0例 ) (2 6 .92± 0 .79nm比 2 5 .71± 0 .6 6nm ,P <0 .0 1) ,突变组低密度脂蛋白亚组分图形均为A型 ;而非突变组A型占 5 2 .5 % ,B型占 47.5 %。突变组胆固醇酯转运蛋白水平显著降低 ,而高密度脂蛋白胆固醇和载脂蛋白AⅠ浓度明显升高。结果提示胆固醇酯转运蛋白基因突变患者低密度脂蛋白亚组分颗粒直径增大。
Aim To study the relation between cholesterol ester transfer protein (CETP) gene mutation and size of low density lipoprotein (LDL) particle. Methods Exon 15 missense mutation (442D∶G) in CETP was determined using PCR-RFLP method in 200 patients with coronary artery disease (CHD). LDL particle size was analyzed by non-denaturing polyacrylamide gradient gels. Results 6 heterozygotes and 1 homozygote were found to had the 442D∶G mutation among 200 CHD patients. Frequency of this mutation was 3.5%. The patients with gene mutation (n=7) had significantly larger particle diameters than those without the mutation (n=40) (26.92±0.79 nm vs. 25.71±0.66 nm, respectively; P<0.01). LDL subfraction pattern in all the patients with gene mutation is pattern A. The distribution of LDL subfraction pattern was significantly difference between two groups. The patients with gene mutation had decreased plasma CETP level, while elevated level of HDLC and apoAⅠ compared with control. Conclusion LDL particle size in patients with CETP gene mutation increases.
出处
《中国动脉硬化杂志》
CAS
CSCD
2000年第3期217-220,共4页
Chinese Journal of Arteriosclerosis
基金
江苏省应用基础研究课题!(BJ97111)
关键词
胆固醇酯
低密度脂蛋白
动脉粥样硬化
Cholesterol Ester
Lipoprotein
LDL
Mutation
Coronary Artery Disease
Atherosclerosis
