ABCA1基因R219K多态性在新疆维吾尔族、汉族分布特征及与血脂水平关系  

Distributional characteristics of adenosine triphosphate binding cassette transport protein A1 gene R219K polymorphism and association with blood lipid level in healthy Han and Uygur population in Xinjiang

作　　者：孙明慧[1] 马依彤[1] 谢翔[1] 袁山[1] 王磊[1] 杨毅宁[1] 付真彦[1] 彭潇[1] 刘芬[1] 陈邦党[1] 

机构地区：[1]新疆医科大学第一附属医院心脏中心,乌鲁木齐市830054

出　　处：《中华实用诊断与治疗杂志》2011年第1期14-17,共4页Journal of Chinese Practical Diagnosis and Therapy

基　　金：新疆自治区重大科技专项课题(200733146-3)

摘　　要：目的:探讨三磷酸腺苷结合盒转运蛋白A1(ABCA1)基因R219K多态性在新疆汉族和维吾尔族健康人群中的分布特征及与血脂水平的相关性。方法:采用聚合酶链反应-限制性片段长度多态性技术,对新疆640名汉族和468名维吾尔族健康体检者的ABCA1基因R219K多态性进行检测,比较2个民族基因型和等位基因的分布特征,并分析ABCA1基因R219K多态性与血脂水平的相关性。结果:ABCA1基因R219K多态性位点在汉族和维吾尔族KK的基因型频率(20.5%,14.3%)、RK基因型频率(51.1%,51.5%)及RR基因型频率(28.4%,34.2%)比较差异均有统计学意义(P<0.05)。2个民族K等位基因频率(46.0%,40.1%)和R等位基因频率(54.0%,59.9%)比较差异有统计学意义(P<0.05)。2个民族KK、RK基因型携带者较RR基因型携带者血清三酰甘油水平降低(P<0.05),维吾尔族KK基因携带者,汉族KK、RK基因型携带者血清高密度脂蛋白胆固醇水平高于RR基因型携带者,差异均有统计学意义(P<0.05)。结论:ABCA1基因R219K多态性在新疆维吾尔族、汉族之间存在差异,且该多态性与血清高密度脂蛋白与三酰甘油水平有关。Objective To investigate the distributional characteristics of adenosine triphosphate binding cassette transport protein A1（ABCA1） gene R219K polymorphism and the association with blood lipid level in healthy Han and Uygur population in Xinjiang.Methods A total of 640 Han and 468 Uygur people were examined ABCA1 gene R219K polymorphism with polymerase chain reaction and restriction fragment length polymorphism technique.The allele frequencies and genotypes of Han group were compared with Uygur group.The association of ABCA1 gene R219K polymorphism with blood lipid level was investigated.Results The allele frequencies of ABCA1 gene R219K were 20.5% and 14.3% in KK,51.1% and 51.5% in RK,28.4% and 34.2% in RR,46.0% and 40.1% in K,and 4.0% and 59.9% in R in Han and Uygur population,which showed significant differences（P0.05）.The serum high density lipoprotein-cholesterol concentrations were higher and triacylglycerol levels were lower in Uygur and Han population with KK genotype than in those with RR genotype,which showed significant differences（P0.05）.Conclusion The frequencies of ABCA1 gene R219K genotypes and alleles in Han population are different from those in Uygur population in Xinjiang.The polymorphism may be associated with level of serum triacylglycerol in Uygur and Han population in Xinjiang.

关 键 词：基因多态性 三磷酸腺苷结合盒转运蛋白A1 汉族 维吾尔族 高密度脂蛋白胆固醇 三酰甘油 

分 类 号：R394[医药卫生—医学遗传学]