载脂蛋白AI基因MspI多态性与原发性高血压病及血脂关系的研究

Study of apoAI gene promoter polymorphism with primary hypertension disease and serum lipid levels

目的探讨原发性高血压患者载脂蛋白(apo)AI基因多态性及其对血脂的影响。方法应用聚合酶链反应对190例正常人和200例原发性高血压患者apoAI基因启动子多态性进行分析,扩增含apoAI基因启动子-75bp和第一内含子+83 bp的DNA片段,限制性内切酶(MspI酶)切此片段,琼脂糖凝胶电泳分离基因多态性。结果两组apoAI基因-75 bp位点均为G/G基因型占优势,但两组间基因型比较差异无统计学意义;两组间-75 bp位点A、G等位基因频率差异无统计学意义。+83 bp位点中基因型与等位基因频率在两组间比较差异均无统计学意义。ApoAI基因-75 bp位点中GA/AA基因型携带者高密度脂蛋白(HDL-C)血浆水平显著低于GG基因型携带者;ApoAI基因-75 bp与+83 bp位点基因变异在高血压不同分级间差别无统计学意义。结论apoAI基因启动子(-75 bp)MspI酶切位点的突变与HDL-C血浆水平降低相关,与高血压病发生及其严重程度无相关性。

Objective To investigate the frequency of variant at two MspI polymorphisms in the apolipoprotein A-I（apoAI） gene and relations to primary hypertension disease and serum lipid levels in Chinese population. Methods The restriction fragment polymorphisms （RFLP） at two MspI sites in the 5 end at -75 bp and ＋83 bp of apolipoprotein AI gene were detected using polymerase chain reaction in 200 primary hypertension disease patients and 190 healthy subjects. Results Both in primary hypertension disease group and control group,G/G genotype was the most frequent one, but no significant differences were found between two groups. No difference was found in the frequencies of rare A, G allele for -75 bp and rare T allele for ＋83 bp. In -75 bp site, subjects with GA/AA genotype had a lower serum mean concentration of high density lipoprotein compared with subjects with the genotype G/G. Conclusion MspI RFLP at - 75 bp of apoAI gene is not associated with primary hypertension disease to some extent in Chinese population,and the GA/AA genotype of apoAI gene is associated with the decrease of serum HDL C level.