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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。
Objective To investigate the effect of exon 9 of human lipoprotein lipase gene, especially Ser447 → stop mutation, on serum lipid levels. Methods The gene mutation was screened by polymerase chain reaction-single strand conformation polymorphism. The DNA sequencing and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to determine the mutation. The relationship between the mutation and serum lipid level was analyzed. Results A total of 78 mutations were detected in 420 subjects with normal triglycerides (<1.7 mmol / L), including 1 homozygous and 77 heterozygous. DNA sequencing and polymerase chain reaction-restriction fragment length polymorphism Technical analysis of mutations are nonsense Ser447 → stop mutation. The frequencies of carrier and allele of Stop447 were 18.6% and 9.4% respectively. (1.05 ± 0.32 mmol / L) in Stop447 group was significantly lower than that in Stop447 non-carrier group (1.13 ± 0.28 mmol / L) (P <0.05); HDL cholesterol level in Stop447 group was 1.28 ± 0.28 mmol / L) was higher than that of Stop447 non-carrier group (1.25 ± 0.27 mmol / L), but there was no significant difference (P> 0.05). CONCLUSION: Exon 9 of human gene mutation is single, showing Ser447 → stop polymorphism only. Ser447 → stop variation may have weaker role of lowering triglyceride.