冠心病、原发性高血压人群ACE基因多态性分布及序列测定

Angiotensin 1converting enzyme gene insertion/deletion polymorphism in patients with coronary artery disease and essential hypertension and its nucleotide sequence

目的研究血管紧张素转换酶（ＡＣＥ）基因插入／缺失（Ｉ／Ｄ）多态性在冠心病（ＣＡＤ）、原发性高血压（ＥＨ）和健康人群中的分布，并进行序列分析。方法以多聚酶链反应（ＰＣＲ）方法检测了１３７例ＣＡＤ患者、４２例ＥＨ患者和６３例健康人群的ＡＣＥ基因型，以荧光标记自动测序法测定Ｄ和Ｉ等位基因序列。结果ＣＡＤ组ＤＤ型ＡＣＥ基因出现频率显著高于对照组（０．４５对０．２１，Ｐ＜０．０１），而ＥＨ组与对照组比较无显著差异。Ｄ等位基因长１９１ｂｐ，Ｉ等位基因长４７９ｂｐ，其核苷酸序列与国外文献报道略有不同。结论ＡＣＥ基因Ｉ／Ｄ多态性是ＣＡＤ发病的独立危险因素，与ＥＨ无相关，ＡＣＥ基因１６内含子中一段２８８ｂｐ的插入片段造成Ｉ／Ｄ多态性。

Objective To determine angiotensin 1coverting enzyme(ACE) gene insertion/deletion(I/D) polymorphism distributions in patients with coronary artery disease (CAD) and essential hypertension (EH), and to detect its nucleotide sequence. Methods ACE genotypes of 137 patients with CAD, 42 patients with EH and 63 healthy people were detected by PCR methods. At the same time,neucleotide sequences of D and I alleles were determined by fluorescein labeling automatic sequencing method. Results The frequency of DD genotype in CAD group was significantly higher than that in control group (0.45 and 0.21, P<0.01), but there was no significant difference of ACE gene I/D polymorphism distribution between EH and control group. The lengths of D and I alleles are 191bp and 479bp seperately and their necleotide sequences are somewhat different with the results of foreign countries. Conclusion ACE gene I/D polymorphism is an independent risk factor of CAD, but it has no relationship with EH. A 288 bp insertion segment results in the I/D polymorphism of ACE gene.