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目的探讨血浆同型半胱氨酸(homocysteine 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、VitB_(12)水平,运用多聚酶链反应-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(methylenetetra-hydrofolate 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±11.67μmol/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无显著差异(P>0.05)。MTHFR 有三种基因型,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无显著差异(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型相比亦有显著差异(P<0.01)。脑梗死组与脑出血组叶酸、VitB_(12)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VitB_(12)与Hcy水平也有关联。
Objective To investigate the relationship between plasma homocysteine homocysteine (Hcy) level and cerebrovascular disease and its genetic and nutritional factors. Methods Plasma Hcy levels were measured by high performance liquid chromatography (HPLC) in 130 patients with cerebral infarction and 77 patients with cerebral hemorrhage and 65 normal controls. The levels of folic acid and VitB 12 were determined by radioimmunoassay. Polymerase chain reaction-restriction The polymorphism of methylenetetra-hydrofolate reductase (MTHFR) gene was analyzed by PCR-RFLP and analyzed. Results The levels of Hcy in cerebral infarction group and cerebral hemorrhage group were 19.87 ± 11.67μmol / L and 20.15 ± 10.12 μmol / L, respectively, which were significantly higher than those in control group (11.41 ± 3.28 μmol / L, P <0.01) No significant difference between cerebral hemorrhage group (P> 0.05). There were three genotypes of MTHFR. The frequencies of C / C genotype in cerebral infarction group, cerebral hemorrhage group and control group were 0.39,0.46,0.53, C / T genotype were 0.35,0.31,0.30, T / T genotype were 0.26, 0.23,0.17, T allele frequencies were 0.43,0.39,0.32, the genotypes and allele frequency was no significant difference (P> 0.05). Plasma homocysteine levels in T / T genotypes were significantly different from those in C / C genotypes (P <0.01), but C / T plasma Hcy levels were also significantly different from those in C / C genotypes (P <0.01) P <0.01). The levels of folic acid and VitB_ (12) in cerebral infarction group and intracerebral hemorrhage group were significantly lower than those in normal control group (P <0.01). Conclusion The plasma Hcy level is the main risk factor of cerebrovascular disease. The C → T mutation at base 677 of MTHFR gene may be the main influencing factor of plasma Hcy level, but the direct relationship with cerebrovascular disease remains to be further studied. VitB_ (12) folic acid is also associated with Hcy level.