脑梗死与一氧化氮合酶基因多态性的关系

Correlation between cerebral infarction and nitricoxide synthase gene polymorphism

目的:研究脑梗死与一氧化氮合酶(nitricoxidesynthase,NOS)外显子7处第894位G被T替代的多态性突变的关系。方法:华中科技大学同济医学院附属同济医院收治的100例脑梗死患者为脑梗死组,均符合1996年中华神经科学会和中华神经外科学会制定的“各类脑血管病诊断标准,不包括出血性脑梗死及无症状腔隙性脑梗死;按年龄、性别相匹配收集100例非脑卒中人群为对照组。两组均采用聚合酶链反应-限制性片段多态性(PCR-RFLP)方法进行NOS基因外显子7处第894位变异的分析。结果:脑梗死组患者组NOS基因外显子7处第894位纯合子TT型5例,NOS基因杂合子TC型26例。NOS基因CC型为69例,对照组纯合子TT型2例,杂合子TC型14例,CC型84例。脑梗死组NOS突变率为31%,对照组突变率为16%,结果显示两组NOS基因的外显子7处第894位多态性有显著意义(P<0.05)。OR(oddsratio)为2.39。结论:NOS基因的外显子7处第894位G被T替代的突变与脑梗死的发生有关。

AIM:To study the relation of cerebral infarction(CI) with G894T mutation of ni tricoxide synthase(NOS) gene polymorphism. METHODS: G894T mutation of NOS of 100 CI patients(CI group),who were in the Af filiated Tongji Hospital of Huazhong University of Science and Technology,and th at of 100 non-CI people(control group),who were matched with the subjects in th e CI group in age and sex, were selected for mutation analysis with polymerase c hain reaction-restriction fragment length polymorphism(PCR-RFLP).Patients in t he CI group met the diagnostic criteria of all kinds of cerebrovascular disease made up by the China Neuroscience Society and China Neurosurgery Society, exclud ing hemorrhagic CI and symptomless lacunar CI. RESULTS:In the CI group,TT homozygote of G894T mutation in exon 7 was revealed in 5 patients,TC heterozygote in 26 patients and CC genotype in 69 patients.In the control group,TT homozygote was revealed in 2 patients,TC heterozygote in 14 patients and CC genotype in 84 patients.The mutation rate was 31% in the CI g roup and 16% in the control group.The results showed that the polymorphism of G894T of NOS gene in exon 7 was significantly different between the two groups(P < 0.05). CONCLUSION:The G894T mutation of NOS is related with the occurrence of CI.