脂蛋白脂肪酶基因Ser~(447)→stop变异对血脂水平的影响
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天津市自然科学基金(033607311)资助


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

    Abstract:

    Aim To screen the mutations in lipoprotein lipase(LPL) gene exon 9 and to investigate the effect of mutation on triglyceride(TG) and high density lipoprotein cholesterol(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-SSCP);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 LPL stop~(447) carriers(1.05±0.32 mmol/L)was 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.

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赵郁,杨宇虹,穆云翔,汪军梅,赵莉莉,解用虹.脂蛋白脂肪酶基因Ser~(447)→stop变异对血脂水平的影响[J].中国动脉硬化杂志,2005,13(6):717~720.

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  • 收稿日期:2005-03-25
  • 最后修改日期:2005-10-30
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