MTHFR基因C677T位点多态性与胎儿生长受限的相关性

目的:探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点多态性与胎儿生长受限(FGR)的关系。方法:FGR患者62例,正常妊娠妇女65例。聚合酶链反应—限制性内切酶片段长度多肽性(PCR-RFLP)法检测MTHFR C677T基因多态性;荧光偏振免疫法测定血浆总同型半胱氨酸水平;微粒子酶免分析法测定血浆叶酸、VitB12浓度。结果:①FGR组MTHFR C677TC/T基因型频率显著高于正常对照组,C/C基因型频率显著低于对照组,总的突变T等位基因频率显著高于对照组(P<0.05)。②FGR组MTHFRT/T基因型Hcy水平较C/C、C/T基因型患者显著增高,而血清叶酸水平则明显降低(P<0.05)。血清VitB12水平在FGR3种基因型之间差异无显著性(P>0.05)。对照组MTHFR C677T3种基因型之间血清Hcy、叶酸、VitB12,水平差异无显著性(P>0.05)。结论:MTHFR基因C677T位点多态性与FGR有关,高同型半胱氨酸血症是FGR发病的危险因素。

Relationship of MTHFR C677T polymorphisms and fetal growth restriction

Objective:To study the relationship between MTHFR C677T polymorphisms and fetal growth restriction.Methods:Analyze 62 cases of FGR and 65 cases of normal pregnancy.MTHFR C677T polymorphisms were identified by PCR-RFLP,homocysteine was determined by Fluorescence polarization immunassay,folate and VitB12 were measured by microparticle enzymeimmunoassay.Results:①The frequency of MTHFR C677T C/T was significantly higher than normal group,the frequency of C/C was significantly lower than control.The total mutation allele T frequency was obviously higher than controls(P<0.05);②In FGR group,the concentration of Hcy in MTHFR T/T was obviously higher than MTHFR C/C and C/T,but the concentration of folate was generally decreased(P<0.05).Among the three genotypes,there was no significant difference in level of serum VitB12 in FGR group(P>0.05).Among the three genotypes,there was no significant difference in level of serum Hcy,folate and VitB12 in control group(P>0.05).Conclusion:Maternal MTHFR C677T polymorphisms is associated with FGR,hyperhomocysteinemia is a risk factor of FGR.