摘要
目的评估亚甲基四氢叶酸还原酶(methylenetetrahydrofolate recuctase,MTHFR)C677T,A1298C和G1793A基因多态性与死胎的关系。方法收集2014年8月~2016年8月延安大学附属医院33例出现不明原因死胎的妇女和582例正常活胎的妇女进行病例对照研究。使用PCR-RFLP法检测MTHFR基因C677T,A1298C和G1793A多态性,通过logistic回归分析MTHFR基因多态性与死胎易感性之间的关系。结果病例组与对照组MTHFR A1298C和G1 793A多态性位点的基因型频率间不存在显著性差异,但是多态性位点C677T的突变基因型频率间存在显著性差异(CT:P=0.02,x^2=3.67;TT:P=0.02,x^2=3.65),杂合子CT和纯合子TT可能是死胎发生的高风险因子。MTHFR C677T突变基因型在早期死胎中出现1例(14.3%,1/7),在晚期死胎中出现3例(11.5%,3/26),两组差异无统计学意义。双胎妊娠使死胎风险增加8倍(P<0.001,x^2=13.28),MTHFR C677T的存在使死胎的风险增加了3.4倍(P=0.02,x^2=3.65)。结论 MTHFR C677T基因多态性是死胎发生的危险因素,可以作为妊娠患者出现死胎现象的预后指标。
Objective To determine the relationship between Methylenetetrahydrofolate reductase （MTHFR）（C677T, A1298C and G1793A） polymorphisms and stillbirth. Methods 33 unexplained stillbirth and 582 normal livebirth were col- lected for case-control study from August 2014 to August 2016. The genotyping of C677T, A1298C and G1793A polymor phisms of the MTHFR gene was tested by using restriction fragment length polymorphism polymerase chain reaction. The relationship between MTHFR polymorphisms and stillbirth susceltibility was analyzed by logistic regression. Results There was no significant difference in the genetype frequencies of A1298C and G1793A of MTHFR polymorphisms between case and control. But there was significant difference in the genetype frequencies of C677T between case and control （CT： P= 0.02,χ2 =3.67;TT：P=0.02,χ2=3. 65）. Heterozygous CT and homozygous TT would be high risk factors of stillbirth. C677T was found in one （14.3%） of the cases with early stillbirth and in three （11.5%） of the cases with late stillbirth, having no significant difference. Twin pregnancy and MTHFR C677T increased the risk 8-fotd （P〈0. 001 ,χ2 = 13.28） and 3.4（P=0.02,χ2 =3.65） for stillbirth,respectively. Conclusion MTHFR C677T polymorphism is high risk factors associ ated with the susceptibility of stillbirth. MTHFR C677T may be used as a prognostic marker of pregnancy cases predisposed to preterm delivery.
出处
《现代检验医学杂志》
CAS
2017年第1期72-76,共5页
Journal of Modern Laboratory Medicine
基金
科技惠民计划项目(2015HM-01-02)
