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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 被引量:5

Detection of methylenetetrahydrofolate reductase gene polymorphism
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摘要 目的 探讨妊高征患者亚甲基四氢叶酸还原酶 (MTHFR)基因C6 77T多态与血浆同型半胱氨酸 (Homo cysteine ,Hcy)、叶酸及维生素B12 水平的关系。方法 采用 (PCR -RFLPCPR -restrictionfragmentlengthpolymdor phism)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C6 77T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T6 77/T6 77频率 (0 34)显著高于妊高征组B(无Hcy血症组 ) (0 11,P <0 0 1)和正常对照组 (0 13,P <0 0 1) ;各组中随 6 77T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 MTH FR基因C6 77T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C6 Objective To investigate the methylenetetraphydrofolate reductase(MTHFR) gene polymorphism and its interaction with plasma homocysteine,folate and vitamin B 12 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 B 12 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 hyperhomocystienemia) 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 folate and vitamin B 12 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.
出处 《中国公共卫生》 CAS CSCD 北大核心 2004年第6期762-764,共3页 Chinese Journal of Public Health
关键词 亚甲基四氢叶酸还原酶 同型半胱氨酸 妊娠高血压综合征 多态 维生素 methylenetetraphydrofolate reductase(MTHFR) homocysteine pregnancy induced hypertension polymorphism vitamin
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