母亲MTHFR基因A1298C突变与后代NTDs的关系

Case-control study of relationship between mother MTHFR A1298C mutation and their offspring NTDs

目的:探讨母亲亚甲基四氢叶酸还原酶(MTHFR)基因A1298C突变与其后代发生NTD s风险性的关系。方法:在山西省搜集41例生育神经管畸形儿的母亲和41例生育正常儿的母亲形成1∶1匹配的病例对照研究,采用PCR-RFLP技术检测研究对象MTHFR基因1298位点多态性。结果:MTHFR基因1298位点呈多态性,本次研究发现两种基因型别A/A、A/C在病例组中为70.7%、29.3%,在对照组中为75.6%、24.4%,经统计学分析,χ2=0.25,P>0.10。等位基因(A、C)频率在病例组(85.4%、14.6%)和对照组(87.8%、12.2%)的分布经分析,χ2=0.21,P>0.10。结论:母亲MTHFR基因A1298C突变与后代NTD s可能无相关性。

Objective： A case - control study was conducted in order to explore the relationship between mother MTHFR A1298C mutation and the risk of fetal neural tube defects （NTDs） . Methods： The case - control study included 41 cases and 41 controls matched in certain conditions. MTHFR genotype at the A1298C site was analyzed by PCR -RFLP method. Results： MTHFR gene in 1298 site had polymorphism. The genotype AA and AC frequencies was 70. 7% and 29. 3% respectively, among cases and 75. 6% and 24. 4% respectively among controls, the differences were statistical significant （χ^2 = 0. 25, P 〉 0. 10）, the alley （ A, C） frequencies distribution in cases of 85.4% and 14. 6% and in controls of 87. 8 and 12. 2% were statistical significant （χ^2 = 0. 21, P 〉 0.0 ） too. Conclusion： MTHFR A1298C mutation perhaps has no association with offspring NTDs.