Objective To explore the association between ApoE and MTHFR C677T gene polymorphisms and serum concentration of AFP,β-hCG and uE3 in second trimester in DS prenatal screening.Methods 87 pregnant women with high DS risk after DS prenatal screening were selected as high risk group, 100 pregnant women with low DS risk were selected as low risk group,and 80 non-pregnant healthy women were selected as controls.Chemolummescence immunoassay was applied to detect the AFP,β-hCG and uE3 concentration in serum.PCR-RFLP was explored to detect MTHFR C677T gene polymorphisms, and multi-MARS was used for identifying the ApoE gene polymorphisms.Finally,serum marker concentrations and MTHFR C677T and ApoE genotype frequencies were compared in different groups.Results ①The concentration of β-hCG was accumulated in controls, low risk group and high risk group.The concentration of AFP and uE3 in high risk group were higher than that in controls but lower than that in low risk group (t=-6.74~8.71, P<0.01,all).②The binary logistic a-nalysis showed that interaction between ε3 and low uE3,low AFP and high β-hCG,and between C allele and low AFP were risk factors of high DS risk (OR=5.132~44.347,P<0.05 ,all).Conclusion The MTHFRC677T and ApoE polymorphism may be related with changes of serum AFP,β-hCG and uE3 concentrations of pregnant women with high DS risk.%目的 探讨ApoE及亚甲基四氢叶酸还原酶(MTHFRC)677T基因多态性与孕中期血清标志物β-hCG,AFP和uE3水平在唐氏综合征产前筛查中的关联性.方法 选取87名唐氏综合征初筛高危孕中期孕妇设为高危组,100名初筛低危孕中期孕妇设为低危组,80名正常非孕女性设为对照组.所有受试对象均抽取空腹肘静脉血5 ml.化学发光法检测血清AFP,β-hCG和uE3水平;multi-MARS快速分型法检测各组ApoE基因多态性;PCR-RFLP法检测MTHFRC677T基因多态性.对不同组血清标志物水平及MTHFR和ApoE基因型、等位基因进行logistic分析.结果 ①对照组、低危组和高危组β-hCG水平依次升高,高危组AFP和uE3水平均高于对照组,但均低于低危组(t=-6.74～8.71,P值均<0.01).②经logistic分析,ApoE ε3与uE3降低,AFP降低,β-hCG升高,及MTHFR677的C等位基因与AFP降低的交互作用是唐氏综合征高危的危险因素(OR=5.132～44.347,P值均<0.05).结论 MTHFR677与ApoE基因多态性可能会与唐氏综合征高危孕妇血清AFP,β-hCG和uE3含量异常变化存在关联.
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