脂蛋白脂肪酶基因Ser^(447)→stop变异对血脂水平的影响  

Effect of Ser^(447)→stop Mutation in Lipoprotein Lipase Gene on the Triglyceride Level

作　　者：赵郁[1] 杨宇虹[1] 穆云翔[1] 汪军梅[1] 赵莉莉[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》2005年第6期717-720,共4页Chinese Journal of Arteriosclerosis

基　　金：天津市自然科学基金(033607311)资助

摘　　要：目的探讨国人脂蛋白脂肪酶基因外显子9特别是Ser447→stop变异对血脂水平的影响。方法利用聚合酶链反应—单链构象多态性技术筛查基因突变,利用DNA测序和聚合酶链反应—限制片长多态性技术确定突变的性质,并分析突变与血脂水平的关系。结果在420例甘油三酯正常(<1.7 mmol/L)人群检出78例突变,其中1例为纯合子,77例为杂合子;经DNA测序和聚合酶链反应—限制片长多态性技术分析突变均为Ser447→stop无义突变。Stop447携带频率和等位基因频率分别为18.6%和9.4%。Stop447携带组的甘油三酯水平(1.05±0.32 mmol/L)低于Stop447非携带组(1.13±0.28 mmol/L)(P<0.05);Stop447携带组的高密度脂蛋白胆固醇水平(1.28±0.28mmol/L)虽然高于Stop447非携带组(1.25±0.27 mmol/L),但无统计学差异(P>0.05)。结论国人基因外显子9突变单一,仅表现为Ser447→stop多态性,Ser447→stop变异可能有较弱的降低甘油三酯的作用。Aim To screen the mutafions in lipoprotein lipasc （LPL） gene exon 9 and to investigate the effect of mutation on triglycefide （TG） and high density lipoprotein chalesterol （HDLC） level. Methods The exon 9 of LPL gene was amplified by PCR and the mutations were examined by polymerase chain reaction-single strand conformation polymorphism （PCR-SS- CP） ; the natures of mutations were identified by DNA sequencing and polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Results Only nonsense mutation Ser^447→stop was screened by PCR-SSCP, one subject was homozygous and 77 subjects were heterozygous. The frequency of stop^447 allele is 9.4% and the incidence of Ser^447→stop was 18.6% in the 420 subjects with normal TG level. The triglyceride level in I.PL stop^447 carriers（ 1.05 ± 0.32 mmol/L）wss lower than that in LPL stop^447 non-carriers（1.13 ± 0.28 mmol/L） （P 〈 0.05）; HDLC level in the former（1.28 ± 0.28 mmol/L ）was higher than the latter（ 1.25 ±0.27 mmol/L ） （ P 〉 0.05 ）. Conclusions Only Ser^447→stop mutation exists in LPL exon 9 of 420 subjects with normal TG and the Ser^447→stop mutation have the minor effect on lowering TG level.

关 键 词：分子生物学 Ser^447→stop变异有较弱降低甘油三酯的作用 聚合酶链反应-单链构象多态性 限制片长多态性 脂蛋白脂肪酶 基因突变 甘油三酯 

分 类 号：Q54[生物学—生物化学]