陕西西安地区育龄期女性叶酸代谢基因多态性分布:单中心研究  

Distribution of folate metabolism gene polymorphisms in women of childbearing age in Xi’an of Shaanxi Province:A single-center study

作　　者：焦鹏 张小印 孙可 周静 姚含秉 张蕊 王刚锋 JIAO Peng;ZHANG Xiao-yin;SUN Ke;ZHOU Jing;YAO Han-bing;ZHANG Rui;WANG Gang-feng(Blood Disease Laboratory,Xi’an International Medical Center Hospital,Xi’an 710100;Nuclear Medicine Department,the First Affiliated Hospital of Xi’an Jiao Tong University,Xi’an 710061)

机构地区：[1]西安国际医学中心医院血液病实验室,西安710100 [2]西安交通大学第一附属医院核医学科,西安710061

出　　处：《生殖医学杂志》2025年第2期192-198,共7页Journal of Reproductive Medicine

基　　金：陕西省自然科学基金(2023-JC-QN-0229)。

摘　　要：目的分析在西安国际医学中心医院自愿进行叶酸代谢能力检测的4714名育龄期女性亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C位点和甲硫氨酸合成酶还原酶(MTRR)A66G位点基因多态性情况,为该地区育龄期女性叶酸补充提供遗传学参考依据。方法运用荧光PCR扩增结合毛细管电泳法检测纳入女性MTHFR C677T、MTHFR A1298C和MTRR A66G基因多态性并统计分析其基因型和等位基因频率,采用Hardy-Weinberg平衡分析研究对象是否具有区域群体代表性,最后根据基因型特征评估所检测群体的叶酸代谢能力风险。结果在所检测的4714例育龄期女性中,MTHFR C677T位点CC、CT和TT的基因型频率分别为21.49%、48.94%和29.57%,其中突变基因T的频率为54.04%;MTHFR A1298C位点AA、AC和CC基因型频率分别为72.72%、24.76%和2.52%,突变基因C的基因频率为14.90%;MTRR A66G位点AA、AG和GG基因型频率分别为55.39%、37.76%和6.85%,其中突变基因G的基因频率为25.73%。Hardy-Weinberg平衡分析显示MTHFR C677T、MTHFR A1298C和MTRR A66G位点基因多态性分布符合遗传平衡规律。叶酸代谢能力评估中,未发现风险者占比5.54%,低度风险者占比23.23%,中度风险者占比41.39%,高度风险者占比29.85%。结论在所检测的育龄期女性中叶酸代谢相关基因多态性具有区域特异性,存在叶酸代谢障碍风险的人群占比较高,合理提高叶酸服用剂量,有可能达到更好的预防效果。Objective:To analyze the genetic polymorphisms of methylenetetrahydrofolate reductase(MTHFR)C677T,A1298C locus and methionine synthase reductase(MTRR)A66G locus in 4714 women of reproductive age who voluntarily participated in folic acid metabolism testing in Xi’an International Medical Center Hospital,and to provide a genetic reference for folate supplementation in women of childbearing age in this area.Methods:Fluorescent PCR amplification combined with capillary electrophoresis was used to detect MTHFR C677T,MTHFR A1298C and MTRR A66G gene polymorphisms and to statistically analyze their genotypes and allele frequencies among recruited women.Hardy-Weinberg equilibrium was used to investigate whether the participants of the study were representative of the regional groups.Finally,the risk of folate metabolism ability was evaluated on the basis of genotypic characteristics in the tested population.Results:In a total of 4714 women of childbearing age tested,for the MTHFR C677T gene polymorphism,the genotype frequencies of CC,CT and TT were 21.49%,48.94%and 29.57%,respectively,with the frequency of mutant gene T was 54.04%;for the MTHFR A1298C gene polymorphism,the genotype frequencies of AA,AC and CC were 72.72%,24.76%and 2.52%,respectively,and the gene frequency of mutant gene C was 14.90%;for the MTRR A66G gene polymorphism,the genotype frequencies of AA,AG and GG genotype frequencies were 55.39%,37.76%and 6.85%,respectively,of which the gene frequency of mutant gene G was 25.73%.Hardy-Weinberg equilibrium analysis showed that the gene polymorphism distribution of MTHFR C677T,MTHFR A1298C and MTRR A66G loci conformed to the genetic equilibrium law.The folate metabolism capacity assessment revealed the proportion of no risk,low-risk,medium-risk and high-risk in recruited women was 5.54%,23.23%,41.39%and 29.85%,respectively.Conclusions:Folate metabolism gene polymorphisms in the tested women of reproductive age are region-specific,and a relatively high proportion of people are at risk of folate metabolism disor

关 键 词：叶酸 亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 多态性 西安 

分 类 号：R714[医药卫生—妇产科学]