【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。更多还原

【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 Ser⁴⁴⁷→stop was screened by PCR-SSCP,one subject was homozygous and 77 subjects were heterozygous.The frequency of stop⁴⁴⁷ allele is 9.4% and the incidence of Ser⁴⁴⁷→stop was（18.6%） in the 420 subjects with normal TG level.The triglyceride level in LPL stop⁴⁴⁷ carriers（1.05±0.32 mmol/L）was lower than that in LPL stop⁴⁴⁷non-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 Ser⁴⁴⁷→stop mutation exists in LPL exon 9 of 420 subjects with normal TG and the Ser⁴⁴⁷→stop mutation have the minor effect on lowering TG level.更多还原