极低密度脂蛋白受体基因多态性与动脉粥样硬化性脑梗死的相关性研究

Study on the correlation between CGG triplet repeat ploymorphism of VLDL-R gene and atherosclerosis brain infarction.

目的 探讨人极低密度脂蛋白受体 (VLDL R)基因CGG三核苷酸串联重复序列与动脉粥样硬化性脑梗死(ABI)的相关性。方法 检测 6 5例ABI患者和 16 0例正常汉族人 (对照组 )的该重复序列 ,同时分析各项血脂水平。结果 共检出CGG重复次数为 5、8、9、11的 4种等位基因及 5 / 5、5 / 8、8/ 8、8/ 9、9/ 9、5 / 9、8/ 11及 5 / 11等 8种基因型。ABI组和对照组比较 ,VLDL R等位基因频率、基因型频率分布均无显著差异 (P >0 .0 5 )。ABI组患者血脂水平与对照组相比明显异常 ,但以VLDL R基因CGG重复序列基因型分 5个亚组后比较分析显示 ,各亚组间差异无显著性 (P >0 .0 5 )。结论 VLDL R基因CGG重复序列多态性与ABI、血清中脂质水平没有关联。

Objective To explore the correlation between CGG triplet repeat polymorphism on the 5′ non coding region of very low density lipoprotein receptor (VLDL R) gene and atherosclerosis brain infarction (ABI) in Chinese Han nationality. 225 subjects with no blood links in Hubei region, including 65 cases of ABI and 160 healthy controls were studied. Methods Polymerase chain reaction (PCR) denature polyacrylamide gel electrophoresis silver stain technique was employed to determine the CGG triplet repeat polymorphism of VLDL R gene and its relation with blood lipid level.Results The Chinese Han nationality in Hubei region had VLDL R gene polymorphism, 4 alleles with 5, 8, 9, 11CGG triplet repeats and 8 genotypes with 5/5, 5/8, 8/8, 8/9, 9/9, 5/9,8/11 and 5/11 were detected. There were no significant differences ( P > 0.05 ) in VLDL R gene allele and genotype frequencies between ABI and normal controls. ABI groups had abnormal level of blood lipid. When the subjects were divided into 5 groups according to VLDL R genotype, the differences among the subgroups were not statistically significant.Conclusion There was VLDL R gene polymorphism in the Han Chinese in Hubei region. CGG triplet repeat polymorphism of VLDL R gene had no correlation with ABI. It is not an independent risk factor. VLDL R gene polymorphism does not have obvious influence on lipid metabolism.