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目的观察血管紧张素转换酶(ACE)基因16内含子插入/缺失(I/D)多态性与海南黎族高血压的关系。方法采用聚合酶链反应(PCR)检测146例黎族正常对照组与111例高血压病人血中ACE基因16内含子I/D多态标记,得到3种基因型:缺失纯合子(DD型)、插入纯合子(Ⅱ型)及插入缺失杂合子(DI型)。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。统计各基因型频率,计算等位基因频率。结果海南黎族正常对照组DD、DI、Ⅱ基因型频率分别为13.0%、43.8%、43.2%;D及I等位基因频率分别为34.9%、65.1%。海南黎族高血压组DD、DI、Ⅱ基因型频率分别为10.8%、37.8%、51.4%;D及I等位基因频率分别为29.7%、70.3%。两组之间DD、DI、Ⅱ基因型频率及D、I等位基因频率均无显著性差异。结论黎族正常人和高血压病人的D等位基因频率均比I等位基因频率低;ACE基因I/D多态性与黎族高血压无显著关联。
Objective To investigate the relationship between intron insertion / deletion (I / D) polymorphism of angiotensin converting enzyme (ACE) 16 gene and Hainan Li nationality hypertension. Methods Polymerase chain reaction (PCR) was used to detect ACE gene 16 intron I / D polymorphism in 146 cases of normal control group and 111 cases of hypertensive patients. Three genotypes were obtained: deletion of homozygote (DD) , Insertion of homozygote (type II) and insertion of deletion heterozygotes (type DI). And all the ordinary PCR set DD type samples insert specific PCR detection, in order to reduce the error rate. Statistics of each genotype frequency, calculate the allele frequency. Results The frequency of DD, DI and Ⅱ genotypes were 13.0%, 43.8% and 43.2% respectively in Hainan Li nationality control group. The frequencies of D and I alleles were 34.9% and 65.1% respectively. The frequencies of DD, DI, and Ⅱ genotypes in Hainan Li population were 10.8%, 37.8% and 51.4%, respectively. The frequencies of D and I alleles were 29.7% and 70.3%, respectively. There was no significant difference in the frequencies of DD, DI, and II genotypes and D and I allele frequencies between the two groups. Conclusion The frequencies of D allele in both normal and hypertensive patients are lower than those in I allele. The ACE gene I / D polymorphism is not significantly associated with Li hypertension.