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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.