【摘要】 目的探讨MTHFR基因C677T多态性及血浆Hcy水平与神经管缺陷的关系。方法采用PCR-RFLP方法对30例生育过NTD患儿的母亲(NTD组)和34例生育过正常儿的母亲(对照组)进行MTHFR基因C677T等位基因检测,同时用高效液相色谱结合荧光检测法对两组母亲血浆中Hcy水平进行测定。结果NTD母亲组中VV基因型的频率为(36.7%),V等位基因频率为(65.0%),正常对照母亲组中VV基因型的频率为(17.6%),V等位基因频率为(44.1%),两组比较有显著性差异(P<0.05)。NTD母亲组Hcy水平为(11.24±3.2)μmol/L,正常对照母亲组Hcy水平为(8.96±3.3)μmol/L,两组比较也有显著性差异(P<0.01)。结论MTHFR基因C677T多态是神经管缺陷发病的遗传危险因素,它通过血浆中同型半胱氨酸水平升高而引起神经管缺陷。更多还原

【Abstract】 Objective:To discuss the relation between the methylenetetrahydrofolate reductase(MTHFR) gene C667T polymorphism and plasma homocysteine and neural tube defects.Methods:The MTHFR genotypes were analyzed in women who had NTD-affected pregnancies(n = 30) and a control group of women who had a pregnancy unaffected by a birth defect(n = 34) by the PCR-RFLP method,plasma homocysteine was determined by high-pressure liquid chromatography and fluorescence.Results:The frequency of VV genotype(36.7%) and V allele(65.0%) in women with NTD-affected pregnancies were markedly higher than controls(17.6% and 44.1%,P<0.05,=,plasma homocysteine in women with NTD-affected pregnancies(11.24±3.2)μmol/L was also higher than controls(8.96±3.3)μmol/L(P<0.01=.Conclusion:The MTHFR C667T polymorphism is the genetic high risk factory for NTDs.It contributed to neural tube defects by elevating plasma homocysteine level.更多还原