血管紧张素转换酶基因插入/缺失多态性在人群中的分布及其与原发性高血压的关系  

The distribution of angiotensin converting enzyme gene I/D polymorp hism and its relationship with essential hypertension

作　　者：张琦[1] 沈志霞[2] 李宏芬[2] 程爱斌[1] 侯秋霞[1] 吴寿岭[1] 

机构地区：[1]华北煤炭医学院附属开滦医院心内科,唐山现在附属医院心内科063000 [2]华北煤炭医学院附属开滦医院检验科,唐山063000

出　　处：《中华医学遗传学杂志》2003年第5期438-440,共3页Chinese Journal of Medical Genetics

摘　　要：目的　研究血管紧张素转换酶 (angiotensin converting enzyme,ACE)基因 I/ D多态性在人群中的分布特征及其与原发性高血压的关系。方法　应用 PCR方法对 2 966名开滦矿务局职工进行 ACEI/ D基因型检测 ,并分析比较。结果　研究人群中 II、ID、DD基因型分布频率分别为 41.5%、3 8.4%、2 0 .1% ,I、D等位基因分布频率分别为 60 .7%和 3 9.3 %。ACE DD基因型在高血压组 (13 0 8例 )和对照组(1658名 )的频率分别为 18.9%和 2 1.0 % ,差异无显著性 (P>0 .0 5) ,按年龄及性别分层后差异也无显著性(P>0 .0 5)。DD基因型及 D等位基因分布频率有随年龄的增长而下降的趋势 (P<0 .0 0 1)。结论　 ACE I/D多态性与原发性高血压无关 ,基因型及等位基因的分布因年龄不同而不同 ,并提示具有Objective: To observe the distribution character of angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism in Chinese population and its relationship with essential hypertension. Methods: Polymerase chain reaction (PCR) technique was used to detect the angiotensin converting enzyme gene I/D polymorphism in 2966 subjects of Kailuan Coal Mine, and further restriction analysis was performed. Results: The frequencies of ACE II, ID, DD genotypes in total study population were 41.5%, 38.4%, 20.1%, respectively. The DD genotypes in hypertensive group and that in control group were 18.9% and 21.0%, respectively. There was no significant difference between hypertensive group and control group (P>0.05). The same result was seen after stratification by age and gender in each group, respectively (P>0.05). The DD genotype and D allele showed a tendency to decrease with the increase of age (P<0.001). Conclusion: The above results suggested that essential hypertension was not associated with ACE I/D polymorphism. The distributions of ACE genotype and allele varied with age, and the subjects with the character of DD genotype were at higher risk of early death.

关 键 词：血管紧张素转换酶 ACE 基因插入 基因缺失 原发性高血压 心血管疾病 

分 类 号：R544.1[医药卫生—心血管疾病]