血管紧张素转换酶基因定量性状位点多态性与脑血管病的关系研究

目的:研究血管紧张素转换酶(ACE)基因定量性状位点:16内含子插入/缺失(I/D)和3’非翻译区4656(CT)23多态性与高血压、脑血管病的关系。方法:对54例动脉粥样硬化性血栓性脑梗塞(ACI)、45例腔隙性脑梗塞、33例脑出血、40例高血压患者及66例正常对照者以多聚酶链反应-扩增片段长度多态性(PCR-AFLP)方法分析ACE基因I/D多态性、以多聚酶链反应-变性梯度凝胶电泳(PCR-DGGE)方法检测4656(CT)23多态性。结果:各受试组之间比较,仅ACI患者ACE基因I/D等位基因频率(0.546/0.454)分布与对照人群(0.674/0.326)显著不同(X2=4.114,P<0.05),而高血压、脑出血及腔隙性脑梗死患者与对照人群无显著差别;D等位基因决定高水平血AT-Ⅱ。本受试人群中未发现3'非翻泽区4656(CT)23多态现象。结论:ACE D等位基因并非高血压的危险因素,而是ACI发病的遗传性危险因素;中国人3’非翻译区可能无4656(CT)23多态性。

A study on the relationship of angiotensin converting enzyme gene QTLs polymorphism to cerebrovascular diseases

Objective: To study the relationship of ACE gene quantitative trait loci(QTLs):I/D in 16th intron and 4656 (CT)2/3 in 3 untranslation region (UTR) polymorphisms tohypertension and cerebrovascular diseases. Methods: The ACE gene I/D and 4656(CT)2/3 polymorphisms was analyzed by PCR-AFLP and DGGE methods, respectively, in the 54 patients with atheothrombotic cerebral infarction (ACI), 45 patients with lacunar infarction (LI), 33patients with cerebral hemorrhage (CH), 40 patients with essential hypertension (EH) and 66healthy controls (HC). Results: The frequencies of I/D alleles (0. 546/0. 454) in ACI patients weresignificantly different from that in the controls (0. 674/0. 326) (x2 =4. 114, P<0. 05). while there wereno differences between those in EH, LI and CH patients and controls. D allele was responsible tothe increased plasma AT-Ⅱlevel. No polymorphism of 4656(CT)2/3 in 3'UTR was found in thisstudy subjects. Conclusions: ACE D allele may be a genetic risk factor for ACK but not forhypertension. There may be no 3 UTR 4656(CT)2/3 polymorphism in Chinese population.