血管紧张素转换酶基因多态性与扩张型心肌病的关联研究  

Association of the genetic polymorphism of angiotensin converting enzyme and idiopathic dilated cardiomyopathy

作　　者：单江[1] 李忠银 施育平[1] 傅国胜[1] 

机构地区：[1]浙江大学医学院附属第二医院心内科,杭州310009

出　　处：《中华心血管病杂志》2001年第5期286-288,共3页Chinese Journal of Cardiology

基　　金：浙江省医药卫生科研基金资助

摘　　要：目的　研究血管紧张素转换酶基因插入 /缺失 (I/D)多态性与扩张型心肌病的关系。方法　应用聚合酶链反应技术检测 83例扩张型心肌病患者与正常对照组 15 5名健康受试者血管紧张素转换酶基因第 16内含子I/D多态性。结果　正常对照组血管紧张素转换酶基因DD、ID、II型频率分别为 16 .1%、5 1.6 %和 32 .3% ,D、I等位基因频率分别为 0 .419和 0 .5 81;扩张型心肌病组血管紧张素转换酶基因DD、ID、II型频率分别为 37.4%、30 .1%和 32 .5 % ,D、I等位基因频率分别为 0 .5 2 4和0 .476。扩张型心肌病患者血管紧张素转换酶基因DD型 (χ2 =13.5 2 8,P <0 .0 0 1)和D等位基因 (χ2 =4.781,P <0 .0 5 )频率均高于正常对照组。结论　血管紧张素转换酶基因DD型和D等位基因可能是扩张型心肌病遗传易感性的基因标志之一。Objective To investigate the association of the insertion/deletion (I/D) polymorphism of the angiotensin converting enzyme(ACE) gene and idiopathic dilated cardiomyopath (DCM) in Chinese Han nationality. Methods Eighty three patients [63 men and 20 women, mean age (54±16) years] with DCM were studied. One hundred and fifty five normal subjects [97 men and 58 women, mean age (59±9) years] were served as control group. DNA was extracted from blood samples in both groups by standard phenol chloroform methods. ACE genotype was determined by specific polymerase chain reaction (PCR) amplification. Results (1) Among the normal subjects, the frequencies of DD、ID、II genotype were 16.1%、51.6% and 32.3% respectively. The D and I allele frequencies were 0.419 and 0.581 respectively. (2) The frequencies of DD、ID、II genotype in DCM patients were 37.4% 、 30.1% and 32.5%. The D and I allele frequencies were 0.524 and 0.476. The frequencies of DD genotype and D allele in those patients were significantly higher than those in the normal subjects. Conclusion The deletion polymorphism and D allele of ACE gene may be one of the genetic risk factors for DCM in the Chinese population.

关 键 词：肽基二肽酶A 基因 充血性心肌病 病理 

分 类 号：R542.2[医药卫生—心血管疾病]