我院MTHFR基因C677T多态性与妊娠早期妇女叶酸补充合理性分析

Analysis of Rationality of Folic Acid Supplementation in Women with MTHFR Gene C677T Polymorphism and Early Pregnancy

摘要: 目的：分析云南省第三人民医院244例妊娠早期妇女MTHFR基因C677T多态性探讨其叶酸补充合理性。方法：选取2020年5月~2020年11月在我院接受叶酸基因检测的妊娠早期妇女共244例，运用TL998A荧光检测仪检MTHFR C677T基因型，比较不同基因型妊娠早期妇女叶酸补充的合理性。结果：244名妊娠早期妇女MTHFR C677T基因突变率为55.3%，合理补充叶酸的有109例，所占比例为44.7%；CC组合理补充所占比例最高(62.4%)；TT组不合理补充所占比例最高(96.2%)，妊娠早期妇女补充叶酸的合理性比较具有统计学意义(P < 0.05)。不同年龄组的基因型、等位基因分别进行卡方分析，结果P > 0.05，说明该地区不同年龄阶段妊娠妇女MTHFR C677T基因型和等位基因无明显差异。结论：妊娠早期妇女合理补充叶酸可以减少妊娠不良反应。我院妊娠早期妇女MTHFR C677T基因突变率较高，服用叶酸前进行叶酸基因检测可指导叶酸个体化补充，有效降低胎儿出生畸形等不良后果。

Abstract: Objective: To analyze the MTHFR gene C677T polymorphism in 244 pregnant women in the Third People’s Hospital of Yunnan Province and to analyze the rationality of folic acid supplementation. Methods: A total of 244 early pregnancy women who received folic acid gene testing in our hospital from October 2018 to March 2019 were enrolled. The MTHFR C677T genotype was detected by TL998A fluorescence detector to compare the rationality of folic acid supplementation in women with different genotypes. Results: The mutation rate of MTHFR C677T gene in early 244 pregnant women was 55.3%, 109 cases were rationally supplemented with folic acid, accounting for 44.7%; the proportion of CC combination supplement was the highest (62.4%); TT group was unreasonable supplement, the proportion was the highest (96.2%), and the rationality of folic acid supplementation in women during early pregnancy was statistically significant (P < 0.05). The genotypes and alleles of different age groups were analyzed by chi-square analysis. The results showed that P > 0.05, indicating that there were no significant differences in MTHFR C677T genotypes and alleles among pregnant women of different ages in the region. Conclusion: Reasonable supplementation of folic acid in women during early pregnancy can reduce adverse reactions in pregnancy. The MTHFR C677T gene mutation rate in women in early pregnancy is high. The folic acid gene test before folic acid can guide the individual supplementation of folic acid, and effectively reduce the adverse consequences of fetal birth malformation.