脂蛋白脂肪酶内含子3C→T突变  

A Splice Site Mutation in Intron 3 of the Lipoprotein Lipase Gene Resulting in Hypertriglyceridemia

作　　者：杨宇虹[1] 葛林[1] 赵郁[1] 解用虹[1] 

机构地区：[1]天津医科大学生物化学教研室,天津市300070

出　　处：《中国动脉硬化杂志》2003年第6期570-572,共3页Chinese Journal of Arteriosclerosis

基　　金：天津市自然科学基金 ( 0 3 3 60 73 11)资助

摘　　要：为筛查中国人群脂蛋白脂肪酶基因的突变情况 ,并探讨这些突变对脂蛋白代谢可能产生的影响 ,研究者利用聚合酶链反应—单链构象多态性分析技术 ,对 14 0例人群 (高甘油三酯血症组 5 1例 ,正常对照组 89例 )的脂蛋白脂肪酶基因进行了突变筛查 ,对可疑突变的扩增样品进行DNA序列测定。结果在外显子 4扩增片段 (包括内含子—外显子交界区 )有 2例可疑突变被检出 ,经测序证实均为内含子 3受位剪接位点上游 6bp的C→T转换突变杂合子。由于该突变仅见于重度高甘油三酯血症患者 ,结合国内外相关文献 ,研究者认为我国人群存在脂蛋白脂肪酶基因内含子 3受位剪接位点的C→T突变 ,该突变可能是我国人群高甘油三酯血症的遗传易患因子。Aim To screen the lipoprotein lipase gene for mutations in Chinese population and to study the possible effects of the mutations on the lipoprotein metabolism. Methods The lipoprotein lipase gene was examined by polymerase chain reaction-single strand conformation polymorphism analysis, and the polymerase chain reaction products showing abnormal pattern on single strand conformation polymorphism were sequenced using dideoxy-mediated chain-termination method. Results Two mutations were found in 140 Chinese people and both were heterozygous C→T transitions at 6 bp upstream from acceptor splicing site of intron 3. Conclusion The mutation in intron 3 of the lipoprotein lipase gene may be the genetic risk of hyperglyceridemia in Chinese population.

关 键 词：脂蛋白脂肪酶 聚合酶链反应-单链构象多态性分析 高甘油三酯血症 内含子突变 

分 类 号：R589.2[医药卫生—内分泌] Q55[医药卫生—内科学]