亚甲基四氢叶酸还原酶基因突变与不明原因复发性流产的关系

目的探讨亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase,MTHFR）基因C677T和A1298C突变与不明原因复发性流产（unexplained recurrent miscarriage,u RM）的关系。方法利用聚合酶链式反应（polymerase chain reaction,PCR）和限制性片段长度多态性（restriction fragment length polymorphisms,RFLP）方法,检测52例u RM患者（u RM组）和16例可孕妇女（对照组）MTHFR C677T和MTHFR A1298C位点多态性。结果 u RM组中MTHFR 677C/T（26.9%vs 25.0%,P=1.00）和677T/T（17.3%vs 6.3%,P=0.43）基因型频率以及T等位基因频率（30.8%vs 18.8%,P=0.19）高于对照组但无显著性差异;u RM组中MTHFR 1298 A/C（23.1%vs 18.8%,P=0.98）和1298 C/C（13.5%vs 12.5%,P=0.73）基因型频率以及C等位基因频率（25.0%vs 15.6%,P=0.27）高于对照组亦无显著性差异。结论我们的研究结果表明MTHFR C677T和A1298C基因位点突变可能与u RM无关。

The association of methylenetetrahydrofolate reductase gene mutation with unexplained recurrent miscarriage

Objective：The aim of this study was to investigate the association of methylenetetrahydrofolate reductase（MTHFR）C677T and A1298 C gene mutations with unexplained recurrent miscarriage（u RM）. Methods：The gene mutations of MTHFR C677 T and MTHFR A1298 C were analyzed by polymerase chain reaction（PCR）and restriction fragment length polymorphisms（RFLP）assay in 52 u RM patients（u RM group）and 16 fertile women（control group）. Results：The frequencies of MTHFR 677C/T（26.9% vs 25.0%,P=1.00）genotype,677T/T（17.3% vs 6.3%,P=0.43）genotype and the T allele（30.8% vs 18.8%,P=0.19）in u RM group were higher than those in control group,but there were no significant difference between the two groups. The frequencies of MTHFR 1298 A/C（23.1% vs 18.8%,P=0.98）genotype,1298 C/C（13.5% vs 12.5%,P=0.73）genotype and the C allele（25.0% vs 15.6%,P=0.27）in u RM group were higher than those in control group,but there were also no significant difference between the two groups. Conclusions：Our results suggest that the mutations of MTHFR C677 T and A1298 C genes might not be associated with unexplained recurrent miscarriage.