【论著】MTHFR C677T基因多态性及血浆HCY与复发性流产的关系

  09-06- 12  

摘要目的探讨MTHFR C677T基因多态性及血浆同型半胱氨酸与复发性流产发病的相关性。方法采用聚合酶链反应限制性片段长度多态性分析MTHFR C677T的基因型并以小分子捕获（small molecular trapping, SMT）技术测定血浆HCY水平。结果流产组MTHFR C677TT基因型频率和T等位基因频率高于对照组(P<0.05)；流产组与对照组比较血浆HCY水平显著增高(P<0.001)。结论患者MTHFR C677T突变及血浆HCY水平的增高与复发性流产的发生有相关性。
关键词复发性流产MTHFR（亚甲基四氢叶酸还原酶）HCY（同型半胱氨酸）
The relationship of plasma homocysteine and the gene polymorphism of MTHFR with recurrent abortion
MA ShufangZHENG Meiling
ABSTRACTObjectiveTo investigate the relationship of plasma homocysteine and the polymorphism of methylintetrahydrofolate reductase(MTHFR) gene with recurrent abortion. MethodsThe polymorphism of C677T of MTHFR gene was analyzed by a technique of polymerase chain reactionrestriction fragment length polymorphism(PCRRFLP), and the plasma HCY was measured by means of SMT. ResultsMTHFR C677T genotype frepuency, T allele frepuencyes and the plasma HCY of RA case were significantly higher than those in controls; ConclusionThe mutation of MTHFR C677T and the Hyperhomocysteinemia were relateto RA.
KEY WORDSRecurrent abortion(RA)Methylintetrahydrofolate reductase(MTHFR)Homocysteine(HCY)

作者单位山西医科大学第一医院遗传室
复发性流产(recurrent abortion，RA)是指连续2次或2次以上的自然流产，临床发病率约为1％~3％\[1\]。其发病原因复杂，影响着患者的治疗效果。近来研究表明，高同型半胱氨酸（Hyperhomocysteimemia，HHCY）水平可使胎盘血栓形成、胚胎发育异常从而引发流产，这可能与同型半胱氨酸（homocysteimemia，HCY）代谢相关的MTHFR基因C677T位点突变相关。本研究通过分析RA患者MTHFR C677T基因多态性及血浆HCY水平的测定，了解MTHFR C677T基因型及血浆HCY水平与RA的相关性。为RA的病因学预防及治疗提供科学依据。