叶酸代谢基因MTHFR及MTRR多态性与河南地区复发性流产的相关性分析

MTHFR and MTRR gene polymorphisms involved in folate metabolism and their relations to unexplained recurrent spontaneous abortion in Henan province

目的研究叶酸代谢基因多态性在河南地区育龄妇女的分布情况,探索其与不明原因复发性流产的相关性。方法选取无合并症的423名孕妇(对照组)和不明原因复发性流产就诊的378名妇女(观察组),采用PCR荧光探针法检测亚甲基四氢叶酸还原酶基因(MTHFR)C677T、A1298C位点及甲硫氨酸合成还原酶基因(MTRR)A566G位点的多态性分布。结果观察组MTHFR 677位点携带突变T基因、MTHFR 1298位点携带突变C基因与对照组比较差异有统计学意义,观察组MTR 566位点携带G基因与对照组比较差异未见统计学意义。当有两个基因位点同时发生突变时,增加了复发性流产的概率。结论 MTHFR C677T和A1298C与育龄妇女发生不明原因复发性流产有一定的关联。

Objective To analyze the relationships between gene polymorphism involved in folate metbolism and the maternal risks for unexplained recurrent spontaneous abortion in Henan province. Methods A case control study was conducted. The pol-ymorphism of C677T,A1298C in methyleneterahydrofolate reductase（ MTHFR）and A66G in methionine synthase reductase （MTRR）were analyzed among 378 females of recurrent spontaneous abortion（observation group）and 423 normal females（con-trol group）by polymerase chain reaction（PCR）fluorescence probe. Results The distribution frequency of MTHFR C677T and A1298C genotype in the observation group were significantly increased compared with the control group. The distribution frequen-cy of MTRR A66G genotype had no statistical difference between the two groups. The interactive analysis of 2 genes indicated that simultaneous carrying the MTHFR 677,1298 mutation site and MTRR A66G mutation site increased the possibility of recur-rent spontaneous abortions occurrence. Conclusion MTHFR C677T and A1298 have a certain correlation with female unex-plained recurrent spontaneous abortion.