【摘要】 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。更多还原

【Abstract】 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.更多还原