摘要
目的探索亚甲基四氢叶酸还原酶基因位点(MTHFR,C677T)在育龄女性中的多态性,指导育龄妇女合理补充叶酸,防止叶酸缺乏导致新生儿出生缺陷的发生。方法选取来本院行孕前及孕期检查的育龄女性,采用荧光定量PCR法(Real-time PCR)对MTHFR基因的C677T位点进行检测。分析基因位点多态性并与其他地区育龄女性位点多态性进行比较分析。结果4983例育龄女性共检测到3种基因型,频率分别为CC型20.61%(1027/4983)、CT型48.44%(2414/4983)和TT型30.95%(1542/4983),CT型为主。与已报道张家口、郑州、临沂等地育龄女性相比无显著差异(χ^(2)=1.071,P>0.05),与新乡、西安、德阳、三河市、淄博相比则存在显著差异(P<0.05)。结论本地区以CT型为主,在育龄女性中MTHFR基因C677T位点多态性存在区域差异。育龄期女性开展MTHFR C677T基因位点检测,对孕期合理补充叶酸具有指导作用。
Objective To understand the distribution of methylenetetrahydrofolate reductase(MTHFR C677T)gene locus polymorphisms in women of childbearing age,and to guide women of childbearing age to supplement folic acid reasonably.Methods Women of childbearing age who underwent preconception and pregnancy examination in our hospital were selected and the genotype of MTHFR C677T locus was detected by quantitative real-time PCR.The gene locus polymorphism was analyzed and compared with the women of childbearing age in other regions.Results Among the 4983 women of childbearing age,the MTHFR C677T genotypes were CC,CT and TT,and the frequencies were 20.61%(1027/4983),48.44%(2414/4983)and 30.95%(1542/4983),respectively.CT was the main genotype.There was no significant difference compared with the reported women of childbearing age in Zhangjiakou,Zhengzhou,Linyi and other places(χ^(2)=1.071,P>0.05),however,the difference was significant compared with other regions(P<0.05).Conclusion MTHFR C677T gene polymorphisms have specific distribution characteristics in women of childbearing age,and CT type is the main female of childbearing age in this study.MTHFR C677T gene mutation detection in women of childbearing age has a guiding effect on reasonable folic acid supplementation during pregnancy.
作者
滕俊萍
索峰
张燕
王亿
缑灵山
顾茂胜
TENG Jun-ping;SUO Feng;ZHANG Yan;WANG Yi;GUO Ling-shan;GU Mao-sheng(Xuzhou Maternity and Child Health Care Hospital,Xuzhou 221009,Jiangsu Province,China)
出处
《罕少疾病杂志》
2023年第7期6-7,共2页
Journal of Rare and Uncommon Diseases
基金
江苏省妇幼保健重点学科FXK202140。
关键词
育龄女性
亚甲基四氢叶酸还原酶
基因多态性
Women of Child-bearing Age
Methylenetetrahydrofolate Reductase
Gene Polymorphism
