现代检验医学杂志2013，Vol.28Issue(2)：28-31,4.DOI:10.3969/j.issn.1671-7414.2013.02.008
孕中期唐氏综合征产前筛查血清标志物与ApoE及MTHFR基因多态性的相关性研究
Investigation of Relationship between ApoEand MTHFR Gene Polymorphism and Serum Markers of DS Prenatal Screening in Second Trimester
刘薇 1尹志农 2程珍 2王俊文2
作者信息
- 1. 河北医科大学,石家庄,050017
- 2. 清华大学附属北京市垂杨柳医院实验中心,北京,100022
- 折叠
摘要
Abstract
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.关键词
血清标志物/基因多态性/唐氏综合征Key words
serum markers/gene polymorphism/Down's syndrome分类
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刘薇,尹志农,程珍,王俊文..孕中期唐氏综合征产前筛查血清标志物与ApoE及MTHFR基因多态性的相关性研究[J].现代检验医学杂志,2013,28(2):28-31,4.
