MTHFR基因C677T多态与神经管缺陷及先兆子痫关系的研究

The common C677T polymorphism in the methylenetetrahydrofolate reductase gene is associated with neural tube defects and preeclampsia

目的 探讨亚甲基四氢叶酸还原酶 (methylenetetrahydrofolate reductase,MTHFR)基因C6 77T多态与神经管缺陷 (neural tube defects,NTD)及先兆子痫发生的关系。方法 采用 PCR/ RFL P技术对 2 7位生过 NTD患儿的母亲和 2 4位生过正常孩子的母亲 ,以及 5 7例患过先兆子痫的妇女和 12 0名正常对照妇女进行了 MTHFR等位基因检测。结果 (1)正常对照母亲组中 VV基因型的频率为 0 .13,而生过 NTD患儿母亲组中 VV基因型的频率为 0 .33,携带 VV基因型的母亲生 NTD患儿的危险性比非VV基因型的母亲提高 3倍 ;(2 )患过先兆子痫的妇女组中 VV基因型的频率为 0 .31,而未患过先兆子痫的对照组中 VV基因型的频率为 0 .15 ,VV基因型的妇女患先兆子痫的危险性比非 VV基因型的妇女提高2 .5倍。结论 MTHFR基因 C6 77T多态与 NTD及先兆子痫的发生有关。

Objective To assess whether MTHFR gene C677T polymorphism is associated with neural tube defects and preeclampsia. Methods Twenty four mothers who had given birth to normal children, 27 mothers who had given birth to NTDs children,120 normal women, and 57 women who had suffered from preeclampsia were genotyped for C677T polymorphism by using PCR/RFLP method. Results (1) VV genotype frequency in the normal mothers group it was 0.13,while in the NTDs mothers group it was 0.33; mothers with VV genotype were at 3 times increased risk to have a NTDs child, compared with the normal mothers. (2) In the normal women group VV genotype frequency was 0.15, while in the preeclampsia women group it was 0.31; women with VV genotype were at 2.5 times increased risk to have preeclampsia, compared with the normal women. Conclusion The authors believe that MTHFR VV genotype is associated with the development of NTDs and preeclampsia.