海南汉族高血压人群血管紧张素转换酶基因多态性研究

采用聚合酶链反应(PCR)技术,对海南汉族106例高血压患者和97例汉族正常人的血管紧张素转换酶(ACE)基因插入/缺失(I/D)多态性检测,观察DD,DI,II基因型频率及等位基因频率,并对所有普通PCR定为DD型的样本进行插入特异性PCR检测,以减少误分型率.结果显示:高血压组DD,DI,II基因型频率分别为16.0%,28.3%,55.7%;D及I等位基因频率分别为30.2%,69.8%.正常对照组DD,DI,II基因型频率分别为15.5%,44.3%,40.2%;D及I等位基因频率分别为37.1%,62.8%.两组之间的DD,DI,II基因型频率及D,I等位基因频率均有显著性差异(P<0.05).高血压组与正常对照组比较,体重指数(BMI)、总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)均有显著性差异(P<0.05);高血压组收缩压、舒张压与正常对照组有显著性差异(P<0.05);高血压组和正常对照组的D等位基因频率都比I等位基因频率低;ACE基因I/D多态性与汉族高血压的发病有相关性,是汉族高血压的主要致病基因.

A Study on ACE Gene Polymorphisms of Hypertension in Hainan Han Nationality

This paper detects the polymorphisms of angiotension-converting enzyme(ACE) gene insertion/deletion(I/D) in 106 patients with hypertension and 97 healthy people from Hainan Han nationality and investigates the genotype frequencies and allele frequencies of DD,DI and II by PCR technology. Furthermore the paper tests all subjects with DD genotype that had been determined by common PCR in order to reduce any wrong-classification rate using insertion-specific PCR.Results showed that the genotype frequencies of DD,DI and II were 16.0%,28.3% and 55.7%,and the allele frequencies of D and I were 37.1% and 62.8% in the hypertension group,respectively.In the healthy group,the genotype frequencies of DD,DI and II were 15.5%,44.3% and 40.2%,respectively,whereas the allele frequencies of D and I were 37.1% and 62.8%,respectively.There were significant differences among the genotype frequencies of DD,DI,and II and among allele frequencies of D and I between these two groups(P<0.05).There were significant differences among body mass index(BMI),total serum cholesterol(TC),triglyceride(TG),and LDL-C,systolic pressure and diastolic pressure between hypertension group and healthy group(P<0.05).The D allele frequency of both hypertension group and healthy group is less than the I allele frequency.There is correlativity between ACE gene I/D polymorphisms and the development of hypertension in Han nationality.It is the major gene that causes hypertension in Han nationality.