育龄女性MTHFR基因多态性与叶酸浓度的关系研究

摘要

目的：通过对孕期育龄女性叶酸代谢关键酶5，10‐亚甲基四氢叶酸还原酶（MTHFR）C677T的基因多态性检测，分析MTHFRC677T基因多态性与外周血红细胞中叶酸浓度之间的关系。方法收集孕期育龄女性100例，采用基因芯片法检测外周血红细胞中MTHFRC677T的基因多态性，并对所有研究对象中的育龄女性给予口服800μg／d叶酸1个月，抽取口服叶酸前后EDTA抗凝血各5mL，化学发光法检测口服叶酸前后不同基因型女性外周血细胞中叶酸浓度的变化。结果100例育龄妇女MTHFRC677T基因CC型、CT型、TT型的检出频率分别为26％、54％、20％；CC型受试者口服叶酸前后平均红细胞叶酸浓度之间差异无统计学意义（P＞0．05），CT型和TT型受试者口服叶酸后红细胞叶酸浓度较口服前升高，差异有统计学意义（P＜0．05）。结论外周血中MTHFRC677T基因分型可以影响细胞内叶酸的浓度，口服叶酸可以提高育龄女性红细胞内叶酸浓度。%Objective To explore the correlation of MTHFR C677T gene polymorphism and the concentrations of folic acid in fertile women .Methods Gene chip method was used to examine the polymorphism ,and all the women were given oral administra‐tion of folic acid 800μg/d for one month .5 mL anticoagulant blood from the fertile women were detected before and after giving the oral folic acid .And the level of folic acid in peripheral blood was analyzed by chemiluminescence .Results The detection rate of gene polymorphism of CC ,CT and TT were 26% ,54% and 20% ,respectively .The levels of folic acid in peripheral blood of CC genotype groups before and after giving the oral folic acid had no significant differences (P> 0 .05) ,and the rates in CT and TT genotype groups after giving the oral folic acid were significantly higher than before(P<0 .05) .Conclusion MTHFR C677T genotypes can affect the concentration of folic acid in peripheral blood .And oral folic acid can improve the concentration of folic acid in peripheral blood in fertile women .