重庆市主城区育龄期女性叶酸代谢酶MTHFR,MTRR基因多态性研究  

Genetic polymorphism study of the folate metabolizing enzymes,such as methylenetetrahydrofolate reductase and methionine synthase reductase,of women of childbearing age in the central districts of Chongqing

作　　者：袁红霞 刘长金 李彦黎 郭冲 王惠[1] 唐荟 郭成雨 魏红璐[1] YUAN Hongxia;LIU Changjin;LI Yanli;GUO Chong;WANG Hui;TANG Hui;GUO Chengyu;WEI Honglu(The Fifth People’s hospital of Chongqing,Chongqing,400062)

机构地区：[1]重庆市第五人民医院,400062

出　　处：《中国计划生育学杂志》2024年第11期2695-2700,共6页Chinese Journal of Family Planning

摘　　要：目的:探讨重庆市主城区育龄期女性叶酸代谢酶基因多态性分布和叶酸利用风险等级特征。方法:回顾性分析2022年2月-2023年10月来本院检查的963名妇女基因检测结果。采用连接酶测序法对5,10-亚甲基四氢叶酸还原酶(MTHFR)基因c.677C>T、c.1298A>C位点和甲硫氨酸合成还原酶(MTRR)基因c.66A>G位点进行基因型检测,分析基因多态性,评估叶酸利用风险度。结果:MTHFR c.677C>TCC、CT及TT的基因型频率分别为53.1%、37.5%、9.4%,C、T等位基因频率分别为71.8%、28.2%;MTHFR c.1298A>C AA、AC及CC的基因型频率分别61.4%、34.3%及4.3%,A、C等位基因频率分别为78.5%、21.5%;MTRR c.66A>G AA、AG及GG的基因型频率分别52.9%、38.6%及8.5%,A、G等位基因频率分别为72.2%、27.8%。与其它地区相比,MTHFR c.677C>T、c.1298A>C基因多态性具有显著区域性差异,MTRR c.66A>G基因多态性区域性差异不明显。叶酸利用中度风险43.3%,高度风险9.7%。MTHFR c.677C>T和c.1298A>C连锁及单倍型分析两点分布存在连锁不平衡。结论:重庆市主城区育龄期妇女MTHRF、MTRR基因多态性分布具有区域性特点;叶酸利用中高度风险比例较高。Objective:To explore the genetic polymorphism distribution of the 5,10-methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR)genes of women of childbearing age in the central districts of Chongqing,and to evaluate the rank characteristic of the risk of folic acid utilization of the women by the folate metabolizing enzymes gene polymorphism analyzed.Methods:A total of 963women who came to the hospital for pregnancy tests were selected as the study subjects from February 2022 to October 2023.The c.677C>T locus and c.1298A>C locus of MTHFR genotypes and the MTRR c.66A>G locus of MTRR of the women were detected by ligase sequencing.The gene polymorphism of the women was analyzed to evaluate the risk of the folic acid utilization of the women.Results:The genotype frequencies of MTHFR c.677C>T CC,CT and TT of the women were 53.1%,37.5%and 9.4%,respectively,and the allele frequencies of C and T of the women were 71.8% and 28.2%.The gene frequencies of MTHFR c.1298A>C AA,AC and CC of the women were 61.4%,34.3% and 4.3%,respectively,and the allele frequencies of A and C of the women were 78.5% and 21.5%.The genotype frequencies of AA,AG and GG of MTRR c.66A>G of the women were 52.9%,38.6% and 8.5%,respectively,and the allele frequencies of A and G of the women were 72.2% and 27.8%.Compared with those of the women in the other regions,the gene polymorphisms of MTHFR c.677C>T and c.1298A>C had significant regional differences,while the gene polymorphisms of MTRR c.66A>G of the women had no significant regional differences.The proportions of the medium and high risk of the folic acid utilization of the women were 43.3% and 9.7%.The linkage and haplotype analysis of MTHFR c.677C>T and c.1298A>C showed the linkage disequilibrium between MTHFR c.677C>T and c.1298A>C.Conclusion:The distribution of MTHRF and MTRR genetic polymorphisms of the women of childbearing age in the central districts of Chongqing shows the regional characteristic.The proportions of the medium and high risk of the folic acid util

关 键 词：育龄期女性 叶酸利用风险度 亚甲基四氢叶酸还原酶 甲硫氨酸合成还原酶 基因多态性 

分 类 号：R173[医药卫生—妇幼卫生保健]