摘要
目的利用基因检测技术,调查广东地区育龄妇女叶酸代谢相关基因多态性分布,筛查出机体叶酸利用能力有缺陷的高风险个体,为其叶酸增补方案提供科学理论指导。方法选取5386例育龄妇女作为研究样本,利用DNA提取以及多重连接探针扩增(multiplex ligation-dependent probe amplification,MLPA)检测技术,检测亚甲基四氢叶酸还原酶(methyltetrahydrofolate reductase,MTHFR)叶酸代谢相关基因多态性分布。结果MTHFR基因677位点CC、CT、TT基因型频率分别为53.5%、37.4%、9.1%;MTHFR基因1298位点AA、AC、CC基因型的频率分别为59.7%,35.1%,5.2%。结论MTHFR基因相关位点的检测可成功筛查出叶酸利用欠缺的高风险育龄妇女,为其叶酸增补方案提供科学量化指导。
Objective is to use genetic detection technology,investigate the distribution of the folate metabolism gene polymorphism in women of childbearing age in Guangdong,select high-risk group of individuals where the body cannot use folic acid efficiently,and provide scientific and theoretical guidance for women’s folic acid supplementation strategies.Methods is to select a research sample of 5386childbearing age women,and to detect folate metabolism gene polymorphism related to methylenetetrahydrofolate reductase(MTHFR)using DNA extraction and multiplex ligation-dependent probe amplification(MLPA)detection technique.Results shows that the genotype frequencies of CC,CT and TT at MTHFR 677loci were 53.5%,37.4%,9.1%respectively,and the genotype frequencies of AA,AC and CC at MTHFR 1298loci were 59.7%,35.1%,5.2%respectively.Conclusion is that the detection of gene loci of MTHFR can be used to successfully select high-risk group with the deficiency of using folic acid,and provide scientific and quatitative guidance for their folic acid supplement strategies.
作者
陈延冰
梁杰
张艳霞
Chen Yanbing;Liang Jie;Zhang Yanxia(Guangdong Women and Children Health Care Hospital,Guangzhou 511440,Guangdong,China)
出处
《中国产前诊断杂志（电子版）》
2022年第1期50-52,共3页
Chinese Journal of Prenatal Diagnosis(Electronic Version)
关键词
叶酸代谢
亚甲基四氢叶酸还原酶
多态现象
Folic acid deficiency
Methylenetetrahydrofolate reductase(MTHFR)
Polymorphism
Genetic
Methionine synthase reductase
