混合型高脂血症患者脂蛋白脂酶基因S447X的多态性  

Detection of lipoprotein lipase S447X polymorphisms in combined hyperlipidemia

作　　者：林育芳[1] 赵迎社[2] 周羽並 郑辉[3] 杨中汉[2] 周天鸿[1] 

机构地区：[1]暨南大学生物工程学系,广东广州510632 [2]暨南大学医学院生化教研室,广东广州510632 [3]暨南大学医学院生理教研室,广东广州510632

出　　处：《暨南大学学报（自然科学与医学版）》2002年第5期71-74,共4页Journal of Jinan University(Natural Science & Medicine Edition)

基　　金：广东省自然科学基金(990467)

摘　　要：　目的:研究中国人混合型高脂血症患者脂蛋白脂酶基因多态性.方法:应用聚合酶链反应(PCR)扩增114例混合型高脂血症患者LPL基因外显子9片段,采用低离子浓度-单链DNA构象多态性方法(LIS-SSCP),结合RFLP技术,进行筛查.结果:检测到S447X多态性.114例患者中,野生型100例,突变体杂合子12例,纯合子2例.结论:中国人中存在S447X多态性,在所研究的混合型高脂血症患者中,与脂质水平无关联.Aim: To study the polymorphism of lipoprotein lipase(LPL)gene exon 9 in Chinese combined hyperlipidemia(CHL). Methods: A DNA segment of 174 bp including exon 9 was amplified by PCR. The products were analyzed by low ionic strength single-strand conformation polymorphism (LIS-SSCP) and restriction fragment length polymorphism (RFLP) to detect the mutation in exon 9. Results:〖WTBZ〗 14 subjects (1228%) carried at least one copy of the S447X allele, only 2(175%) were homozygous for this allele. The rest 100 (8772%)subjects were wild homozygous. Plasma lipid levels were not significantly associated with S447X polymorphism. Conclusion: S447X of LPL in Chinese combined hyperlipidmia patients may not be associated with the lipid level.

关 键 词：患者 脂蛋白脂酶 LPL基因 S447X多态性 混合型高脂血症 PCR-LIS-SSCP技术 发病机制 

分 类 号：R589.2[医药卫生—内分泌]