国人ACE基因插入/缺失多态性分析及与血清ACE水平的相关性

Polymorphism analysis of ACE gene in Chinese and its relation with serum ACE level

目的：调查中国人血管紧张素转换酶（ＡＣＥ）基因的插入／缺失多态性分布与及血清ＡＣＥ水平的相关性。方法：采用多聚酶链反应方法测定了６３例健康中国人ＡＣＥ基因型，同时采用微量比色法测定其血清ＡＣＥ水平。结果：中国人中ＡＣＥ基因ＤＤ型占２０．６％，ＤＩ型占４６．１％，Ｉ型占３３．３％，Ｄ与Ｉ等位基因出现频率分别为０．４４和０．５６。ＡＣＥ基因多态性与血清ＡＣＥ水平密切相关，插入／缺失多态性可解释５５％的血清ＡＣＥ总变异。结论：ＤＤ型ＡＣＥ基因可能通过影响ＡＣＥ水平而导致冠心病发病，为临床ＡＣＥ抑制剂应用提供新依据。

Objective: To determine angiotension converting enzyme (ACE) gene insertion/deletion(I/D) polymorphism distribution in Chinese and its relation with serum ACE level. Methods: ACE genotype of 63 healthy Chinese was detected by PCR method, and serum ACE levels were concomitantly measured by microcolorimetric assay. Results: DD genotype of ACE gene in Chinese was 20.6%, DI genotype was 46.1% and II genotype was 33.3%. Allele frequencies were 0.44 for the D allele and 0.56 for the I allele. The I/D polymorphism accounted for 55% of the total variance of serum ACE. Conclusion: DD genotype ACE gene might result in pathogenesis by influencing ACE level, and the new basis of clinical usage of ACEI is provided in this study.