国人脂蛋白脂肪酶基因突变的筛查  

Genetic Screening of the Lipoprotein Lipase Gene for Mutations in Chinese Peoples

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]天津医科大学生物化学教研室,天津市300070

出　　处：《中国动脉硬化杂志》2006年第8期712-716,共5页Chinese Journal of Arteriosclerosis

基　　金：天津市自然科学基金(033607311)资助

摘　　要：目的筛查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例样本(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。对于频率较高的多态性位点,引入限制性核酸内切酶位点利用聚合酶链反应限制片长多态性进行鉴定。结果在386例样本中,共检出4种突变,检出率为14.5%,其中1例为目前国内外未见报道的外显子3 Leu103→Leu同义突变杂合子,1例为目前亚洲首报的外显子5 Pro207→Leu突变杂合子,3例内含子3受位剪接点上游6 bp的C→T转换的突变杂合子,1例Ser447→stop突变纯合子,50例Ser447→stop突变杂合子。结论我国天津地区人群存在着广泛的脂蛋白脂肪酶基因变异,既具有与大多数国家相同的Ser447→stop多态性位点,也具有自身的特点。Aim To screen the mutations of lipoprotein lipase gene in Chinese peoples and to study the possible effects of the mutations on the lipoprotein metabolism. Methods The lipoprotein lipase fragments were examined with 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 chain termination method. Results Four kinds of mutations were found in 386 Chinese people, including one samesense mutation （Leu^103→Leu in exon 3） in one sample, a C→T transition at 6 bp upstream from acceptor splicing site of intron 3 detected in three samples, a C875→T transition resulting in a P207L mutation in exon 5 in one hypertriglyceidemic patient, and a C1595→G transversion resulting in a Ser^447→stop mutation. One homozygous and fifty hetemzygous mutations were found. Conclusions Except for Ser^447→stop, the character of mutations of the lipoprotein lipase gene occurred in Chinese population is different from the Europe and American population.

关 键 词：分子生物学 脂蛋白脂肪酶的基因突变 聚合酶链反应-单链构象多态性 脂蛋白脂肪酶 基因突变 高甘油三酯血症 

分 类 号：Q7[生物学—分子生物学]