血脂正常人群检出LPL内含子3C→T突变

A splice site mutation of the lipoprotein lipase gene intron 3 in normo lipidemia

目的:检测中国人群脂蛋白脂肪酶基因的突变情况,并探讨这些突变对机体脂质代谢可能产生的影响。方法:利用聚合酶链反应-单链构象多态性分析技术对检测人群脂蛋白脂肪酶基因进行突变筛查,并利用DNA测序确定基因突变性质。结果:在1例血脂正常人员LPL基因内含子3的3'端-6bp处检出C→T转换突变。结论:与以往国内外报道该突变仅见于高甘油三酯血症患者不同,本文在一名血脂正常人员检出LPL基因内含子3C→T突变,对探讨该突变的可能影响具有一定的参考价值。

Objective To screen the mutations of lipoprotein lipase gene 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 nature of mutation was confirmed by dideoxy-mediated chain-termination method . Results A heterozygous C→T transition at 6 bp up stream from acceptor splicing site of intron 3 was found in a Chinese without hypertriglyceridemia. Conclusion Up to day all this mutation in references was only found in hypertriglyceridemia so the discovery of the mutation in person with normolipidemia may be certainly valuable to study the possible effects of the mutation