【摘要】 目的 探讨血浆同型半胱氨酸(homocystei

    ne，Hcy)水平与脑血管病的关系及其水平升高的遗传和营养因素。方法 对130例脑梗死和77例脑出血患者及65例正常对照者采用高效液相色谱(HPLC)法检测血浆Hcy水平、放射免疫法测定叶酸、VitB12水平，运用聚合酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP)分析亚甲基四氢叶酸还原酶methylenetetrahydrofol

    ate reductase，MTHFR)基因多态性，并加以对照分析。结果 脑梗死组、脑出血组血浆Hcy水平分别为(19.87±11.67)μmol/L、(20.15±10.12)μmol/L均显著高于对照组(11.41±3.28)μmol/L(P<0.01)；而脑梗死组与脑出血组间差异无显著性(P>0.05)。MTHFR有3种基因型，脑梗死组、脑出血组和对照组C/C型基因频率分别为(0.39、0.46、0.53)，C/T型分别为(0.35、0.31、0.30)，T/T型分别为(0.26、0.23、0.17)，T等位基因频率分别为(0.43、0.39、0.32)，各基因型及等位基因频率差异无显著性(P>0.05)。各组中T/T基因型血浆Hcy水平与C/C型比较差异有非常显著性(P<0.01)，而病例组中C/T型血浆Hcy水平与C/C型相比亦差异有非常显著性(P<0.01)。脑梗死组与脑出血组叶酸、VitB12水平显著低于正常对照组(P<0.01)。结论 血浆Hcy水平升高是脑血管病的主要危险因素。MTHFR基因677位点碱基C→T突变可能是血浆Hcy水平升高的主要影响因素，但与脑血管病的直接关系有待进一步研究，而叶酸VitB12与Hcy水平也有关联。

    关键词 同型半胱氨酸 亚甲基四氢叶酸还原酶 脑血管病 基因多态性

    Correlation analysis between plasma homocysteine level and the gene polymorphism of MTHFR in cerebrovascular disease patients

    Cai Yimin,Lin Lin,Zhou Weizhi,et al.

    Department of Neurology,Shanghai Putuo District People’s Hospital,Shanghai 200060.

    【Abstract】 Objective To investigate the relationship of plasma homocysteine homocysteine level with cerebrovascular disease and the genetic & nutritional factors of elevated plasma Hcy level.Methods 130 patients with cerebral infarction,77 patients with cerebral bleeding and 65 healthy controls were recruited in the study.Their plasma total Hcy levels were measured by high-performance liquid chromatography(HPLC)method,the level of folate & VitB12 was measured by using radioimmuoassay and MTHFR genotype was measure by polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP).Results The plasma Hcy level in cerebral infarction patients[(19.87±11.67) μmol/L] and cerebral bleeding patients[(20.15±10.12) μmol/L] were both markedly higher than that of the controls[(11.41±3.28) μmol/L](P<0.01)；however,there were no significant difference between them(P>0.05).There were 3 kinds of genotypes.The frequencies of c/c genotype in cerebral infarction patients,cerebral bleeding patients and the controls were(0.39,0.46,0.53)respectively,C/T genotype were(0.35,0.31,0.30),T/T genotype were(0.26,0.23,0.17),frequencies of T allele were(0.43,0.39,0.32).Neither the genotype nor the allele frequency was importantly different between patients and control subjects.The plasma Hcy levels were the higest in each group with T/T genotype.Furthermore,the Hcy level elevated could also be seen in two disease groups with C/T genotype.The folate and VitB12 levels of patients were obviously lower than that of control group.Conclusion The higher plasma Hcy level might be ......