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探讨中国人内源性高甘油三酯血症患者载脂蛋白AⅠ基因MspI酶切位点变异频率及其对血脂、载脂蛋白水平的影响。应用多聚酶链反应对成都地区汉族 2 5 5例正常人和 134例内源性高甘油三酯血症患者apoAⅠ基因启动子 (- 78bp)及内含子I(+83bp)两个MspI限制性片段多态性进行分析。内源性高甘油三酯血症组及对照组载脂蛋白AⅠ基因MspI的多态性以G/G基因型占优势。载脂蛋白AⅠ基因启动子区MspI酶切位点A等位基因频率内源性高甘油三酯血症组显著高于对照组 (0 .35 0比 0 .2 73,P <0 .0 5 ) ,并显著高于欧美的白种人 (0 .30 0vs 0 .12 0～ 0 .191,P <0 .0 1) ,而 +83bpT等位基因则未见差异。在所研究对象中具有A/A基因型者血清甘油三酯水平、甘油三酯 /高密度脂蛋白胆固醇比值及载脂蛋白CⅢ水平较具有G/G及G/A基因型者显著升高 (P <0 .0 5 ) ,血清载脂蛋白CⅡ水平有增加趋势 (P >0 .0 5 )。载脂蛋白AⅠ基因启动子 (- 78bp)MspI酶切位点的突变与中国人内源性高甘油三酯血症有一定关联 ,载脂蛋白AⅠ基因A/A基因型对血清甘油三酯、载脂蛋白CⅡ水平及甘油三酯 /高密度脂蛋白胆固醇比值的升高有一定影响。
To investigate the frequency of MspI mutation and its effect on serum lipids and apolipoproteins in Chinese patients with endogenous hypertriglyceridemia. Polymerase chain reaction (PCR) was used to detect the apoA Ⅰ gene promoter (-78bp) and intron I (+ 83bp) two MspI restriction fragments in 235 healthy subjects and 134 patients with endogenous hypertriglyceridemia in Han nationality in Chengdu area. Polymorphism analysis. Polymorphisms of MspI of apolipoprotein AⅠgene in endogenous hypertriglyceridemia group and control group were predominant in G / G genotype. Apolipoprotein A Ⅰ gene promoter region MspI restriction site A allele frequency of endogenous hypertriglyceridemia group was significantly higher than the control group (0.35 0 to 0.273, P <0.05 ), Which was significantly higher than that in European and American Caucasians (0 .30 0vs 0.12 0-0.19l, P <0.01), while there was no difference in the + 83bpT allele. Serum triglyceride levels, triglyceride / high density lipoprotein cholesterol ratio, and apolipoprotein C III levels in subjects with A / A genotypes were significantly higher than those with G / G and G / A genotypes ( P <0.05), serum apolipoprotein CⅡ level increased (P> 0.05). The mutation of MspI restriction site of the apolipoprotein AⅠ gene promoter (- 78bp) has some correlation with the endogenous hypertriglyceridemia in Chinese. The A / A genotype of apolipoprotein AⅠ gene is positively correlated with serum triglyceride, Apolipoprotein C Ⅱ levels and triglyceride / high density lipoprotein cholesterol ratio increased to some extent.