摘要
背景:关于MTHFR和CBS基因是否为脑血管病易感基因存在争议。目的:研究人体MTHFR和CBS基因多态性与脑梗死及脑出血的遗传相关性。设计:病例对照研究。地点和对象:中国北方汉族人群中选取54例脑梗死患者(脑梗死组)、27例脑出血患者(脑出血组)及96例健康人(对照组)。干预:采用限制性内切酶片段长度多态性方法(PCR-RFLP)。对人的MTHFR基因C677T多态性位点、CBS基因T27796C进行检测。主要观察指标:MTHFR,CBS基因PCR与限制性酶切结果。3组MTH-FR,CBS的基因型及等位基因频率分布。结果:MTHFR基因的C677T位点与脑梗死及脑出血均有显著相关,脑梗死组(47.2%)、脑出血组(44.4%)与对照组(60.9%)之间T/C等位基因频率存在差异(χ2=5.28,4.69,P<0.05)。TT等位基因型较CC型患脑梗死、脑出血的风险高(OR=2.53;OR=3.0)。CBS基因T27796C多态性位点与脑梗死及脑出血无明显相关(P>0.05)。结论:MTHFR基因C677T突变位点与脑梗死及脑出血有相关性,MTH-FR基因可能是脑卒中的一个易感基因。CBS基因T27796C多态性位点与脑梗死、脑出血无明显相关。
BACKGROUND:It is controversial on whether the gene methylenetetrahydrofolate r eductase(MTHFR) and cytathionine beta-synthase(CBS) are the susceptible genes o f cerebrovascular diseases. OBJECTIVE:To study the correlation between polymorphism of gene MTHFR and CBS and heredity of cerebral infarction and hemorrhage. DESIGN:A case-control study. SETTINGS and PARTICIPANTS:Fifty-four patients with cerebral infarction(cerebr al infarction group), 27 patients with cerebral hemorrhage(cerebral hemorrhage g roup) and 96 healthy people(control group) were selected from the Han nationalit y population in northern China. INTERVENTION:Method of restriction fragment length polymorphism(PCR-RFLP) was used to detect the C677T polymorphism of gene MTHFR and T27796C of gene CBS. MAIN OUTCOME MEASURES:PCR-RFLP results of gene MTHFR and CBS; genotypes of MT HFR and CBS of three groups as well as the frequency distribution of allclomorph ic gene. RESULTS:C667T of gene MTHFR had significant correlation with cerebral infarcti on and hemorrhage. There was difference(χ2=5.28,4.69,P< 0.05) on allele frequen cy of T/C among infraction group(47.2%), hemorrhage group(44.4%) and control g roup(60.9%).There was higher risk for allelotype TT suffering from cerebral inf raction, hemorrhage than type CC(OR=2.53,OR=3.0).There was no clear correlation between T27796C of gene CBS and cerebral infraction and hemorrhage(P >0.05). CONCLUSION:There is correlation between mutable site C667T of gene MTHFR and c erebral infraction and hemorrhage.MTHFR is more likely a susceptible gene for ce rebral apoplexy.There is no association between polymorphism T27796C of gene CBS with cerebral infraction and hemorrhage.
出处
《中国临床康复》
CSCD
2004年第22期4654-4656,共3页
Chinese Journal of Clinical Rehabilitation
