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目的：探讨中国广东汉族群体血管紧张素转换酶基因（ＡＣＥ）第１６内含子中２８７ｂｐ片段的插入／缺失多态性分布。方法：应用ＰＣＲ扩增技术检测２４４名广东籍汉族人ＡＣＥ基因型。结果：广东汉族群体中ＡＣＥ基因插入纯合型Ｉ／Ｉ占４１％；插入和缺失杂合型Ｉ／Ｄ占４０％，缺失纯合型Ｄ／Ｄ占１９％；Ｉ与Ｄ等位基因出现频率分别为０．６２和０．３９。经Ｘ２检验男女之间无显著性差异（Ｐ＞０．０５）。本组资料Ｉ／Ｉ、Ｉ／Ｄ、Ｄ／Ｄ型三种基因频率与中国汉族人群ＡＣＥ基因多态性分布比较均无显著性差异（Ｐ＞０．０５）与日本人群比较发现日本人与广东汉族人Ｉ／Ｉ、Ｉ／Ｄ、Ｄ／Ｄ三种基因分布频率均无显著性差异（Ｐ＞０．０５）。与欧洲英、法、德三国人群比较发现国人的Ｄ／Ｄ发生频率低于上述三国。Ｉ／Ｉ型发生频率则明显高于欧洲三国。结论：本组资料对ＡＣＥ基因Ｉ／Ｄ多态性分析可能有助于从基因水平对防治ＡＣＥ酶相关疾病进行前瞻性研究具有多方面的应用价值。
OBJECTIVE: To investigate the insertion / deletion polymorphism of the 287 bp fragment in the 16th intron of angiotensin-converting enzyme gene (ACE) in the Han population in Guangdong province, China. Methods: ACE genotypes were detected in 244 Hans of Guangdong province by PCR amplification. Results: The insertion of homozygous I / I in ACE gene in Guangdong Han population was 41%, heterozygous I / D insertion and deletion accounted for 40%, deletion homozygous D / D accounted for 19%, I and D allele The frequencies were 0.62 and 0.39, respectively. There was no significant difference between male and female (P> 0.05) by X2 test. The frequencies of I / I, I / D and D / D genes in this group were not significantly different from the ACE gene polymorphisms in Chinese Han population (P> 0.05) There was no significant difference in the frequencies of I / I, I / D and D / D among Guangdong Han people (P> 0.05). Compared with the European, French and German groups, the frequency of D / D of Chinese people was lower than that of the above three countries. I / I frequency was significantly higher than the three European countries. Conclusion: The data of this group of I / D polymorphisms of ACE gene may be helpful in the prospective study of prevention and treatment of ACE enzyme related diseases at gene level.