关键词: 叶酸, 5,10-亚甲基四氢叶酸还原酶, 甲硫氨酸合酶还原酶, 基因多态性

Abstract: Objective The high-risk population with poor folic acid utilization of childbearing age women was screened by gene detection technology to guide women of childbearing age to supplement folic acid reasonably. Methods The 5,10-methylenetetrahydrofolate reductase (MTHFR) C667T and A1298C loci were collected from 2 652 women of childbearing age in Zhongyuan district of Zhengzhou city from December 2017 to October 2018 by real-time PCR sequencing. Genotyping of the methionine synthase reductase (MTRR) A66G locus, and comparing with the genotype and allele frequency distribution of other populations, and then comprehensively judging the folate metabolism ability of women of childbearing age according to genotype, this gives women of childbearing age the risk and risk level of folic acid supplementation. Results Among the MTHFR C667T loci, wild type (CC), heterozygous mutant (CT) and homozygous mutant (TT) accounted for 15.05%, 46.60% and 38.35%, respectively, and the gene frequency of the mutant gene T was 61.65%; different age groups (≤30 and ＞30 years old) were mainly heterozygous mutants. The MTHFR A1298C locus was 74.55%,23.49%,and 1.96%, respectively, and the gene frequency of the mutated gene C was 13.71%;The different age groups (≤30 and ＞30 years old) were mainly wild type. The MTRR A66G loci were 57.43%,36.73%,and 5.84%, respectively, and the gene frequency of the mutated gene G was 24.21%. Conclusions The distribution of MTHFR C677T gene polymorphism in women of childbearing age in Zhengzhou is related to the region, more than 50% of women of childbearing age carry high-risk genes. Therefore, the detection of folic acid metabolism gene polymorphism in high-risk pregnant women supports increase of the folic acid prescription to reduce neonatal birth defects.

Key words: folic acid, 5,10-methylenetetrahydrofolate reductase, methionine synthase reductase, gene polymorphism