摘要
目的利用基因检测技术筛查出育龄女性叶酸利用能力差的高风险人群,指导育龄女性合理补充叶酸。方法通过荧光定量PCR,对2017年12月至2018年10月采集的2652例郑州市中原区育龄女性进行5,10-亚甲基四氢叶酸还原酶(MTHFR)C667T、A1298C位点和甲硫氨酸合酶还原酶(MTRR)A66G位点的基因型测定,并与其他地区人群基因型和等位基因频率分布进行比较,然后根据基因型综合判断育龄女性叶酸代谢能力强弱,由此得出育龄女性是否有叶酸补充风险及风险级别。结果检测的MTHFR C667T位点中,野生型(CC)、杂合突变型(CT)及纯合突变型(TT)分别占15.05%、46.60%和38.35%,突变基因T的基因频率为61.65%;不同年龄组(≤30和>30岁)均以杂合突变型为主。MTHFR A1298C位点中分别为74.55%、23.49%和1.96%,突变基因C的基因频率为13.71%;不同年龄组(≤30和>30岁)均以野生型为主。MTRR A66G位点中分别为57.43%、36.73%和5.84%,突变基因G的基因频率为24.21%;不同年龄组(≤30和>30岁)均以野生型为主。结论郑州地区育龄女性MTHFR C677T基因多态性分布与地域有相关性,超过50%以上的育龄女性携带高风险基因。因此,对叶酸代谢基因多态性检测高风险孕妇合理增补叶酸剂量,可进一步降低新生儿出生缺陷。
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 2652 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 MTR R 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.
作者
郭婷婷
刘芳
归婧
杨小风
GUO Ting-ting;LIU Fang;GUI Jing;YANG Xiao-feng(Department of Obstetrics and Gynecology,Zhengzhou Central Hospital Affiliated to Zhengzhou University,Zhengzhou 450000,China)
出处
《基础医学与临床》
CSCD
2020年第2期215-218,共4页
Basic and Clinical Medicine
