《中国康复理论与实践》

《中国康复理论与实践》 ›› 2009, Vol. 15 ›› Issue (02): 135-137.

• 基础研究 • 上一篇    下一篇

Hcy、MTHFR基因多态性与急性脑梗死关系的临床研究

杨凌宇1,2;余华峰3a;杨凌3b;文江平3c   

  1. 1. 首都医科大学康复医学院，北京市 100068;2. 中国康复研究中心北京博爱医院神经康复科，北京市 100068;3. 首都医科大学附属北京同仁医院a. 神经内科;b.中心实验室;c.检验科，北京市 100730
  • 收稿日期:2008-04-15 修回日期:2008-12-15 出版日期:2009-02-01 发布日期:2009-02-01

Clinical Study on Relationship between Polymorphism in Methylenetetrahydrofolate Reductase and Hcy and Acute Cerebral Infarction

YANG Ling-yu, YU Hua-feng, YANG Ling, et al   

  1. Capital Medical University School of Rehabilitation Medicine, Beijing Charity Hospital, China Rehabilitation Research Centre, Beijing 100068, China
  • Received:2008-04-15 Revised:2008-12-15 Published:2009-02-01 Online:2009-02-01

PDF (PC)

摘要： 目的 探讨N5,10-亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性及同型半胱氨酸（Hcy）与急性脑梗死的关系。方法 采用Hcy微板底物诱导酶方法检测28例脑梗死患者急性初期（发病后1～3 d）、急性后期（发病后10～15 d）及27例健康对照者的空腹血浆Hcy 水平；应用聚合酶链（PCR）限制性内切酶片段的长度多态性分析检测MTHFRC677T基因型。结果 MTHFRC677T三种基因型在脑梗死组和对照组的分布频率以及677位点等位基因的频率均无显著性差异（P>0.05）；杂合子突变、纯合子突变型的Hcy水平均明显高于野生型（P<0.01），纯合子突变型虽高于杂合子突变型，但差异无显著性意义（P>0.05）。脑梗死组急性初期高Hcy 血症检出率高于健康对照组（P<0.05）；脑梗死组病程急性初期空腹血浆Hcy水平与急性后期无显著性差异（P>0.05），但均明显高于健康对照组（P<0.01）；脑梗死组中各基因型病例的Hcy水平在急性初期和急性后期无显著性差异（P>0.05）。结论 MTHFR基因C677T突变是高Hcy血症的成因之一，并不直接导致脑梗死；高Hcy血症作为脑梗死的独立危险因素，与脑梗死急性期病程发展无关。

关键词: 同型半胱氨酸, N5, 10-亚甲基四氢叶酸还原酶, 基因多态性, 脑梗死

Abstract: Objective To investigate the relationship between polymorphism in methylenetetra-hydrofolate reductase (MTHFR ) and acute cerebral infarction (CI), observe the variation regular of fasting plasma homocysteine (Hcy) level.Methods Using Homocysteine Microplate STE Assay to examine the fasting plasma homocysteine level of 28 CI patients during their initial stage (flaring up between 1 to 3 days) and later stage (flaring up 10 to 15 days) of acute period and 27 healthy controls. The presence of the MTHFR genetic type was determined by polymerase chain reaction (PCR) assay and subsequent restriction enzyme digestion.Results There was no significant difference among the three MTHFR genotypes in distributed frequency of the CI group, normal controls and the 677 allelic gene (P>0.05). The discrepancy of Hcy level in various kinds of genotypes: heterozygote mutation and homozygoto mutation were much higher than wild type (P<0.01). Homozygoto mutation was higher than heterozygote mutation, but there was no significant difference between them (P>0.05). The high homocysteine of group CI during the acute early stage were found out more frequent than normal control (P<0.05). There was no significant difference of fasting plasma Hcy level between the initial stage and later stage of CI group which were in acute period (P>0.05), both of the Results were higher than normal control (P<0.01). There was no significant difference among the Hcy level of various genetypes in CI group during the initial stage and later stage of acute period (P<0.05).Conclusion MTHFR gene C677T mutation is one of the cause of high homocystinemia, while it dose not lead to CI directly. High Hcy level is the independent risk factor of CI, but has no concern to the course of acute CI.

Key words: homocystine, methylenetetra-hydrofolate reductase (MTHFR), polymorphism, cerebral infarction