摘要
目的调查河南省女性亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)基因多态性分布情况,为临床医师指导育龄妇女个体化的叶酸补服方案提供科学依据。方法以河南省9826例育龄期妇女为研究对象,利用单碱基延伸方法检测MTHFR C677T、A1298C位点和MTRR A66G位点的基因型,统计分析基因多态性的分布特征,与文献已经报道的其他地区基因型频率进行统计学分析。根据基因型结果评估叶酸代谢能力强弱,得出河南省育龄女性是否有叶酸补充风险及风险级别。结果统计全部标本中的MTHFR C677T位点,其中野生型(CC)、杂合突变型(CT)及纯合突变型(TT)基因型频率分别占15.78%、45.33%和38.89%;MTHFR A1298C位点野生型(AA)、杂合突变型(AC)及纯合突变型(CC)基因型频率分别为75.03%、23.12%和1.85%;MTRR A66G位点野生型(AA)、杂合突变型(AG)及纯合突变型(GG)基因型频率分别为56.75%、37.09%和6.17%。MTHFR C677T、A1298C和MTRR A66G位点基因型分布与中国人群差异均具有统计学意义(P<0.05)。育龄女性存在叶酸代谢障碍者高达66.57%。结论河南省育龄女性MTHFR C677T、A1298C和MTRR A66G基因多态性的分布具有地域特异性,超过60.00%的育龄女性携带高风险基因,需根据叶酸代谢基因检测结果,给予补充相应剂量的叶酸,以降低出生缺陷。
Objective To explore the distribution of methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR)gene polymorphisms among women in Henan,and to provide scientific evidence for the clinicians to guide the individualized folic supplementation scheme for women of child-bearing age.Methods Data were collected from 9826 child-bearing women in Henan province;Single Base Extension was used to analyze MTHFR C677T,A1298C and MTRR A66G loci polymorphisms.Data were statistically analyzed,and compared with those reported in other regions of China.Folic acid metabolism ability was determined according to genotypes,which predicts the risk level of folic acid supplementation for childbearing women in Henan.Results Among all samples in the MTHFR C667T locus,wild type(CC),heterozygous mutant(CT)and homozygous mutant(TT)accounted for 15.78%,45.33%,and 38.89%,respectively.Wild type(AA),heterozygous mutant(AC)and homozygous mutant(CC)in the MTHFR A1298C locus were 75.03%,23.12%,and 1.85%,respectively.Wild type(AA),heterozygous mutant(AG)and homozygous mutant(GG)in the MTRR A66G loci were 56.75%,37.09%,and 6.17%,respectively.There was statistically significant difference in the distributions of genotypes of MTHFR C667T,A1298C and MTRR A66G loci between the women in Henan and national norm(P<0.05).There were 66.57%of child-bearing women with folic acid metabolism disorder.Conclusion The gene polymorphisms distribution of MTHFR C677T,A1298C and MTRR A66G among child-bearing women in Henan has regional specificity.More than 60.00%of child-bearing women carry high-risk genes,so it is necessary to give corresponding folic acid supplements based on genetic polymorphism of folic acid metabolism to reduce newborn birth defect.
作者
马新利
张婷婷
王玥
张暋
MA Xinli;ZHANG Tingting;WANG Yue;ZHANG Min(Zhengzhou Kingmed Clinical Laboratory Inc.,Zhengzhou,Henan 450000,China)
出处
《河南预防医学杂志》
2021年第3期170-173,210,共5页
Henan Journal of Preventive Medicine
关键词
叶酸代谢
基因多态性
育龄女性
Folate metabolism
Genetic polymorphism
Women of childbearing age
