一种新的脂蛋白脂肪酶基因突变(C^(562)→T)  

A Novel Mutation C^(562)→T in Exon 3 of the Lipoprotein Lipase Gene

作　　者：赵莉莉[1] 汪军梅[1] 穆云翔[1] 杨宇虹[1] 赵郁[1] 刘新宇[1] 解用虹[1] 

机构地区：[1]天津医科大学基础医学院生物化学教研室,300070

出　　处：《天津医药》2006年第7期433-435,共3页Tianjin Medical Journal

基　　金：天津市自然科学基金资助项目(项目编号:033607311)

摘　　要：目的:筛查国人(天津地区)脂蛋白脂肪酶基因突变情况,并探讨其对血脂水平的影响。方法:利用聚合酶链反应-单链构象多态性分析技术,对386例患者(血脂正常组278例,血脂异常组108例)的脂蛋白脂肪酶基因进行突变筛查,对可疑突变的扩增样品进行DNA序列测定。结果:在386例样本中,检出1例外显子3C562→T(Leu103→Leu)同义突变杂合子。结论:新LPL突变(C562→T)的发现,对进一步阐述LPL结构与功能的关系有重要的参考价值。Objective： To screen the mutations of lipoprotein lipase gene in Chinese population and study the possible effects of the mutations on the lipoprotein metabolism. Methods： The mutation screen of lipoprotein lipase of 386 cases（the normal lipoprotein group was group 278 cases and abnormal lipoprotein group was 108 cases） was examined with polymerase chain reaction-single strand conformation polymorphism analysis and DNA sequence of suspect of mutation amplified samples was examined. Results： One novel mutation （C^56→T） was found in 386 Chinese people, which was one samesense mutation heterozygote（Leu^103→Leu） in exon 3. Conclusion： The discovery of the novel LPL mutation （C^56→T） may be certainly valuable to study the relationship between the structure and the function of iipoprotein lipase.

关 键 词：脂蛋白脂酶 基因突变 聚合酶链反应 多态现象 单链构象 

分 类 号：R392.11[医药卫生—免疫学] R749.16[医药卫生—基础医学]