血管紧张素转换酶基因多态性与白族脑血管病患者的相关性研究  

The relationship between insertion/deletion polymorphism of angiotensin-converting enzyme gene and cerebrovascular diseases in Yunnan Bai ethnic groups

作　　者：许虹[1] 范茜君[1] 郭春[1] 聂荔[1] 常履华[1] 聂志[1] 杨桂益 

机构地区：[1]昆明医学院第一附属医院神经内科,云南昆明650032 [2]大理市第一人民医院神经内科,云南大理671000

出　　处：《中风与神经疾病杂志》2010年第3期211-214,共4页Journal of Apoplexy and Nervous Diseases

基　　金：云南省科学技术厅资助项目(2008CD010)

摘　　要：目的研究血管紧张素转换酶(ACE)基因插入/缺失多态性与云南大理白族脑血管病患者的相关性。方法应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术,对73例白族脑血管病(ICVD)组患者(其中脑梗死40例,脑出血33例)和43例性别年龄相匹配的白族健康对照组进行ACE基因型检测和基因插入/缺失多态性分析;并进行ACE基因双向测序。结果(1)脑梗死组的DD基因型频率和D等位基因频率明显高于对照组(P<0.05);(2)脑出血组与对照组相比较,未发现DD基因型频率和D等位基因频率有明显差异(P>0.05);(3)脑血管组内伴高血压与不伴高血压,伴糖尿病与不伴糖尿病,伴血脂异常与血脂正常者相比较,未发现DD基因型频率和D等位基因频率有显著差异(P>0.05);(4)D等位基因和I等位基因其核苷酸序列和长度与国内外文献报道无明显差别。结论(1)ACE基因插入/缺失多态性与脑梗死的发生有关联性,DD基因型和D等位基因是脑梗死患者的高危因素;(2)ACE基因插入/缺失多态性与脑出血发生未发现有关联性;(3)脑血管病的其他相关危险因素如高血压,糖尿病,血脂与ACE基因多态性可能无关联;(4)ACE基因16内含子中一段287bp的插入片段造成I/D多态性。Objective To study the relationship between the insertion/deletion（I/D）polymorphism of angiotensin-converting enzyme（ACE）gene and cerebrovascular diseases in Bai ethnic groups of Yunnan Province. Methods I/D polymorphism of ACE gene was analysed in 73 patients with cerebrovascular diseases in Yunnan Bai ethnic groups（40 patients with cerebral infarction and 33 patients with intracerebral hemorrhage）and 43 healthy controls which were matched on sex and age by polymerase chain reaction-restricted fragments length polymorphism（PCR-RFLP）analysed. Single nucleotide polymorphism of some ACE gene was detected by the fluorescent labeling automatic two directional sequencing method. Results The frequencies of DD genotype and D alleles in cerebral infarction group were obviously higher than those in control group（P0.05）. The frequencies of DD genotype and D alleles in cerebral hemorrhage group were not higher than those in control group（P0.05）. Obviously differences between the frequencies of DD genotype of patients with cerebrovascular diseases and those of healthy controls were not discovered,comparing the patients complicated with hypertension and those without hypertension,patients with diabetes and those without diabetes,patients with hyperlipemia and those with ortholiposis within the group. There was no significant difference between the lengths of D and I alleles and their nucleotide sequences with the results of foreign countries. Conclusion There was some relevance between I/D polymorphism of ACE gene and cerebral infarction. The DD genotype was the high risk factor of brain infarction. Its relative dangerous factors includes hypertension and diabetes;blood lipids were no relation with cerebrovascular diseases. There was no relation between cerebral hemorrhage and those with hypertension. 287bp insertion segment results in the I/D polymorphism of ACE gene.

关 键 词：血管紧张素转换酶 基因多态性 脑血管病 聚合酶链反应-限制性片段长度多态性(PCR-RFLP)基因测序 

分 类 号：R743[医药卫生—神经病学与精神病学]