血管紧张素转换酶1基因单倍型与血浆酶活性及血压的关系  

Haplotypes of Angiotensin-1 converting enzyme (ACE1) gene,serum enzyme activity and essential hypertension in Chinese Hans

作　　者：孔祥东[1] 杨宇霞[2] 

机构地区：[1]郑州大学第一附属医院妇产科,郑州450052 [2]郑州大学第一附属医院急救中心,郑州450052

出　　处：《陕西医学杂志》2005年第8期921-924,共4页Shaanxi Medical Journal

摘　　要：目的:探讨中国汉族群体血管紧张素转换酶1(ACE1)活性、ACE1基因连锁不平衡状态及与高血压间相互关系。方法:检测204例汉族个体ACE1基因4个常见多态位点的分布,估计基因连锁不平衡状态和单倍型结构,并检测血浆酶活性,同时对295例高血压患者与198例血压正常人中进行关联分析。结果:ACE1基因多态间存在高度连锁不平衡(P<0.0001),4个多态存在于常见的7个单倍型中,最常见的单倍型为A(A-A-T-I)和B(C-T-C-D)。ACE1基因各位点多态性在个体中的分布与血浆中ACE1活性有关。单个位点除A-240T外,其余各位点均未见与高血压关联,单倍型D的频率在高血压患者中高于对照组。结论:本组研究群体中,T-240位点可能与高血压易感位点连锁不平衡。Objective：To investigated the relationship among angiotensin-1 converting enzyme and essential hypertension in Chinese population. Methods： Four polymorphisms of ACE1 gene were detected by PCR combined with restriction enzyme digestion or electrophoresis directly, The pattern of intragenic linkage disequilibrium and the haplotype structure were estimated. ACE1 in serum activity was measured, Results：Four polymorphisms exhibited significantly pairwise lingkage disequilibrium, Accept for A-240T and haplotype D, no other single-locus or haplotype frequencies are different significantly between the patient and control groups. Conclusion： In present population, T-240 site of ACE1 may increase the risk of EH.

关 键 词：血管紧张素转换酶1 基因单倍型 血浆 酶活性 高血压 

分 类 号：R544.1[医药卫生—心血管疾病]