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

作　　者：李克深[1] 王滨有[1] 陈黎明[1] 毛东伟[1] 

机构地区：[1]哈尔滨医科大学公共卫生学院,150001

出　　处：《中国公共卫生》2004年第6期762-764,共3页Chinese Journal of Public Health

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C6Objective 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.

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 

分 类 号：R174.6[医药卫生—妇幼卫生保健]