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  

The association of methylenetetrahydrofolate reductase gene mutation with unexplained recurrent miscarriage

作　　者：胡晓东 梁佩燕 刁梁辉 刘翠翠 陈晓燕 黄春宇 曾勇 陈现 

机构地区：[1]深圳中山泌尿外科医院生殖医学中心,深圳市围着床期生殖免疫重点实验室,深圳518000

出　　处：《中国优生与遗传杂志》2014年第11期87-89,共3页Chinese Journal of Birth Health & Heredity

基　　金：深圳市基础研究项目(编号:JCYJ201208291500 19348;JCYJ20120829150019349)

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。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.

关 键 词：不明原因复发性流产 亚甲基四氢叶酸还原酶 C677T A1298C 

分 类 号：R714.21[医药卫生—妇产科学]