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妊娠高血压综合征患者亚甲基四氢叶酸还原酶基因多态性与血浆中同型半胱氨酸水平测定 被引量:22

Study on the Relationship between Methylenetetrahydrofolate Reductase Gene Polymorphism and Plasma Homocysteine Level in Pregnancy Induced Hypertension Patients
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摘要 目的 探讨亚甲基四氢叶酸还原酶 (MTHFR)基因C 6 77T多态性及血浆同型半胱氨酸水平与妊娠高血压综合征 (妊高征 )的关系。方法 采用聚合酶链反应和限制性片段长度多态分析法对 6 2例妊高征患者 (妊高征组 )及 90例正常孕妇 (对照组 )进行MTHFR基因C6 77T等位基因检测 ,并同时用高效液相色谱法测量两组孕妇血浆中的同型半胱氨酸水平。结果 妊高征组纯合变异型T6 77/T 6 77频率为 0 2 7,T 6 77等位基因频率为 0 5 2 ,明显高于对照组的 0 13与 0 31(P <0 0 5 ,P <0 0 1) ,妊高征组同型半胱氨酸水平为 (9 6 2± 2 11) μmol/L ,也明显高于对照组的 (6 85± 1 98) μmol/L(P <0 0 1)。结论 MTHFR基因C 6 77T多态是妊高征发病的遗传危险因素之一 ,它可以导致孕妇血液中同型半胱氨水平升高而引发妊高征。 Objective To investigate the methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and plasma homocysteine level in pregnancy induced hypertension (PIH) patients. Methods The MTHFR genotypes were determined in 62 PIH patients and 90 normal pregnant women by the restriction fragment length polymorphism method, plasma homocysteine level was measured by high performance liquid chromatography and fluorescence detection. Results The frequencies of T677 allele (0.52) and the T677/T677 genotype (0.27) in the PIH group were markedly higher than those in the control group (0.31 and 0.13, P< 0 05, P <0.01 respectively), mean plasma homocysteine level in the PIH group (9.62±2.11) μmol/L was also significantly higher than that in the control group (6.85±1.98) μmol/L ( P <0.01). Conclusion The MTHFR gene T677 variant is the genetic high risk factor for PIH. It can induce the hyperhomocysteinemia, potentially contributing to the pathogeny of PIH.
出处 《中华妇产科杂志》 CSCD 北大核心 2000年第4期205-207,共3页 Chinese Journal of Obstetrics and Gynecology
关键词 半胱氨酸 MTHFR基因 妊娠高血压综合征 Amine oxidoreductases Cysteine Pregnancy complications cardiovascular Hypertension
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