武汉地区育龄期汉族女性叶酸代谢相关酶基因多态性研究  

Gene polymorphism of folate metabolism related enzymes in women of childbearing age in Han nationality Wuhan

作　　者：李卉 江雨霏 高唐鑫子 刘丽君 姚妍怡[1] 易美琪 徐闰红 宋婕萍[1] LI Hui;JIANG Yufei;GAO Tangxinzi;LIU Lijun;YAO Yanyi;YI meiqi;XU Runhong;SONG Jieping(Department of Clinical Laboratory,Maternal and Child Health Hospital of Hubei Province,Wuhan,Hubei 430070,China)

机构地区：[1]湖北省妇幼保健院检验科,湖北武汉430070

出　　处：《国际检验医学杂志》2020年第20期2473-2476,2480,共5页International Journal of Laboratory Medicine

基　　金：湖北省卫生和计划生育委员会联合基金项目(WJ2018H0171);湖北省科技计划项目(2017CFB271);湖北省妇幼保健院科研课题(220936022)。

摘　　要：目的分析武汉地区育龄期汉族女性叶酸代谢关键酶5,10-亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)基因多态性分布,为出生缺陷的个体化防控、孕期叶酸增补提供依据。方法选取2016年5月至2020年1月于该院进行孕前与孕期检查的4216例育龄期汉族女性为研究对象,对其叶酸利用能力基因进行分型,分析该地区MTHFR和MTRR基因多态性的分布特征并与我国不同地区的汉族女性进行比较。结果该地区育龄期汉族女性MTHFR基因C677T和A1298C基因与等位基因频率与北方地区尚志、太原、烟台、郑州,南方地区湘潭、柳州、阳江、琼海的结果比较,差异均有统计学意义(P<0.05);MTRR基因A66G基因与等位基因频率与太原、烟台、柳州、阳江、琼海地区的结果比较,差异有统计学意义(P<0.05)。结论武汉地区育龄期汉族女性MTHFR和MTRR基因多态性分布具有明显的地域特异性,实施叶酸增补时应考虑叶酸代谢能力相关基因多态性的影响,从而制订个性化的增补方案。Objective To analyze the gene polymorphism and distribution of 5,10-methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR)which involved in folate metabolism in women of Han nationality in Wuhan,and to provide evidence for individualized folic acid supplementation and to prevent birth defect.Methods A total of 4216 women of childbearing age in Han nationality who came for pre-pregnancy and prenatal examination were enrolled in this study.The gene polymorphism of MTHFR and MTRR were analyzed and compared with those in other cities of China.Results There were significant differences in MTHFR gene C677T and A1298C gene frequencies and allele frequencies between Wuhan and Shangzhi,Taiyuan,Yantai,Zhengzhou,Xiangtan,Liuzhou,Yangjiang and Qionghai(P<0.05).There were significant differences in the frequencies of A66G genotype and allele between Wuhan and Taiyuan,Yantai,Liuzhou,Yangjiang and Qionghai(P<0.05).Conclusion The distribution of MTHFR and MTRR gene polymorphism in Han nationality women in Wuhan has obvious regional specificity.The genetic polymorphism related to folic acid utilization should be considered in the individualized supplementation of folic acid.

关 键 词：5 10-亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 基因多态性 叶酸 

分 类 号：R446.1[医药卫生—诊断学]