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李克深, 王滨有, 陈黎明, 毛东伟. 妊高征患者亚甲基四氢叶酸还原酶基因多态的检测[J]. 中国公共卫生, 2004, 20(6): 762-764.
引用本文: 李克深, 王滨有, 陈黎明, 毛东伟. 妊高征患者亚甲基四氢叶酸还原酶基因多态的检测[J]. 中国公共卫生, 2004, 20(6): 762-764.
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LI Ke-shen, WANG Bin-you, CHEN Li-ming, . Detection of methylenetetrahydrofolate reductase gene polymorphism[J]. Chinese Journal of Public Health, 2004, 20(6): 762-764.
Citation: LI Ke-shen, WANG Bin-you, CHEN Li-ming, . Detection of methylenetetrahydrofolate reductase gene polymorphism[J]. Chinese Journal of Public Health, 2004, 20(6): 762-764.
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妊高征患者亚甲基四氢叶酸还原酶基因多态的检测

Detection of methylenetetrahydrofolate reductase gene polymorphism

    摘要
  • 摘要:
      目的   探讨妊高征患者亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态与血浆同型半胱氨酸(Homocysteine, Hcy)、叶酸及维生素B12水平的关系。
      方法   采用(PCR-RFLP CPR-restriction fragment length polymdorphism)法对82例妊高征患者(Hcy血症组和无Hcy血症组)及90例正常孕妇(对照组)进行MTHFR基因C677T等位基因检测, 并同时测量孕妇血浆中的同型半胱氨酸、叶酸和维生素B12水平。
      结果   妊高征组A(Hcy血症组)纯合变异型T677/T677频率(0.34)显著高于妊高征组B(无Hcy血症组)(0.11, P < 0.01)和正常对照组(0.13, P < 0.01); 各组中随677T等位基因数量的增加, 血浆Hcy水平也增加, 但是对叶酸和维生素B12水平没有明显影响。
      结论   MTHFR基因C677T多态可以导致妊高征孕妇血液中同型半胱氨水平升高, MTHFR基因C677T多态是妊高征发病的遗传危险因素之一。

     

    Abstract:
      Objective   To investigate the methylenetetr aphydrofolate reductase(MTHFR)gene polymorphism and its interaction with plasma homocysteine, folate and vitamin B12 levels in pregnancy induced hypertension(PIH)patients.
      Methods   The MTHFR genotypes were determined in 82 PIH patietns(with or without hyperhomocystienemia)and 90 normal pregnant women by the PCR-RFLP method.Plasma homocysteine, folate, and vitamin B12 level were also measured.
      Results   The frequency of the T677/T677 genotype(0.34)in the PIH group A(with hyperhomocystienemia)was significantly higher than that in PIH group B(without hyperho mocyst ienemia)or in the control group(P < 0.01, P < 0.01 respectively), Influence of each mutant C677T allele showed a positive trend for Hcy levels but not for the fo late and vitamin B12 levels.
      Conclusion   Increased Hcy level in women with PIH was associated with MTHFR gene polymerphisim.The MTHFR gene T677 variant was one of the genetic risk factor for PIH.

     

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