p47^phox基因第10外显子多态性与脑卒中的关联及其对血脂的影响  

The relationship between the exon 10 of the p47^phox polymorphism and stroke and the effect of the polymorphism on pimm liplaon

作　　者：黄晓松[1] 杨期东[1] 郭田生[1] 龙先喻[1] 杨杰[1] 汤清平[1] 申向明[1] 朱晓岩[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008

出　　处：《中华医学遗传学杂志》2007年第5期524-528,共5页Chinese Journal of Medical Genetics

摘　　要：目的探讨p47^phox 基因第10外显子C923T（Ala308Val）多态性与湖南地区汉族人群脑卒中的关联及其对血脂的影响。方法采用PCR-单链构象多态技术和DNA直接测序法检测湖南地区汉族220例脑卒中患者、20个脑卒中家系成员和100名健康对照者的p47衄基因第10外显子C923T（Ala30SVal）多态性；酶法测定总胆固醇、甘油三酯、高密度脂蛋白胆固醇和低密度脂蛋白胆固醇；免疫比浊法测定apoA-I及apoBl00；ELISA法测定血清脂蛋白α水平。结果湖南省汉族人炉基因第10外显子C923T（Ala30SVal）多态存在CC、CT、TT 3种基因型,脑卒中组及其各亚型组C923T（Ala308Val）多态基因频率分布与对照组比较，差异无统计学意义（P〉0．05）；分析不同基因型对血脂、脂蛋白水平的影响，发现脑梗死组和对照组CT基因型血清甘油三酯水平均明显高于CC基因型（P〈0．05）。结论湖南省汉族人群p47^phox基因C923T（Ala308Val）多态性可能与脑卒中的易患性无关联，可能与脑梗死患者血脂代谢相关。Objective To investigate the relationship between C923T （Ala3OSVal）polymorphism in exon 10 of protein 47000 phagocyte oxidase（ p47^phox ） gene and stroke and to evaluate the effect of C923T （Ala3OSVal） polymorphism on plasma lipid levels in nunan Hans population. Methods nunan Han population C923T （Ala3OSVal） polymorphism in p47^phox gene was determined by PCR-single strand conformation polymorphism analysis and DNA sequencing in 100 healthy controls, 220 patients with stroke, and 10 stroke pedigrees. Plasma lipid levels were measured by routine methods. Results No statistically significant differences were found in frequencies of genotypes and alleles of C923T （Ala308Val） polymorphism between the controls and stroke patients （ P 〉 0.05）. The serum levels of triglycefide in cerebral infarction patients and controls with CT genotype were markedly higher than those with CC genotype （ P 〈 0.05）. Condusion There is no association between C923T （Ala308Val） polymorphism and stroke in Hunan Hans; C923T （Ala308Val） polymorphism is associated with plasma lipid metabohsm in Hunan Han population with cerebral infarction.

关 键 词：脑卒中 p47^phox基因 遗传多态性 血脂 

分 类 号：R686[医药卫生—骨科学]