遵义地区育龄女性叶酸代谢关键酶基因位点多态性研究

Study on SNP polymorphism of key enzymes in folic acid metabolism in women of childbearing age in Zunyi area

目的:调查遵义地区育龄女性叶酸代谢关键酶5,10-亚甲基四氢叶酸还原酶(5,10-methylenetetrahydrofolate reductase、MTHFR)及甲硫氨酸合成酶还原酶(Methionine Synthase Reductase、MTRR)关键位点基因多态性,获取本地区育龄女性叶酸利用能力情况,同时为叶酸营养增补方案提供分子医学理论依据,更好地指导孕期保健。方法:选取2019年3月至2019年5月在本院进行备孕及孕期检查的籍贯为遵义市的女性作为研究对象,共计317例。采集并提取研究对象口腔黏膜上皮脱落细胞,抽提DNA,利用荧光定量PCR方法检测并分析受检者MTHFR(C677T,A1298C)和MTRR(A66G)基因分型情况,并与已报导的其他地区女性的数据进行比较。结果:入组对象的基因多态性分布符合遗传平衡;遵义地区育龄女性MTHFR 677CC、CT、TT的基因型频率分别为36.0%、50.5%、13.6%,MTHFR 1298AA、AC、CC的基因型频率分别为65.6%、30.9%、3.5%,MTRR 66AA、AG、GG的基因型频率分别为53.9%、40.4%、5.7%;遵义地区育龄女性MTHFR(C677T,A1298C)位点基因型和等位基因频率与以下地区育龄女性相比有显著差异(P<0.05)与延边、廊坊、淄博、阳江、南宁、琼海比较,差异有统计学意义(P<0.05),MTRR A66G位点基因型频率与延边、琼海相比,有显著差异。结论:遵义地区育龄女性叶酸代谢关键酶基因位点多态性与其他地区女性有所区别,具有地域特性。

Objective:Study about the characteristics of the key enzyme folic acid metabolism MTHFR(C677T,A1298C)and MTRR(A66G)in Han women in Zunyi city,Guizhou province,and compared with the samples from other regions that have been reported,understand the folic acid metabolism ability of the study subjects and provide some reference for guiding the local folic acid health during pregnancy.Methods:The origins of pregnancy and pregnancy examinations in our hospital from March to May 2019 were selected for the study of women in Zunyi city,with a total of 317.Genomic DNA were obtained from oral mucosa cells.Detections of MTHFR and MTRR gene polymorphisms conducted with Taqman-MGB technology.Gene type and allele frequency were compared with other ethnic minorities women have been reported before.Results:The genetic polymorphism distribution of the enrolled subjects is consistent with the genetic balance;The genotype frequencies of MTHFR 677CC,CT,and TT in Han nationality women in Zunyi city were 36.0%,50.5%,and 13.6%,respectively.The genotype frequencies of MTHFR 1298AA,AC,and CC were 65.6%,30.9%,and 3.5%,respectively.MTRR 66AA,AG The genotype frequencies of GG were 53.9%,40.4%,and 5.7%,respectively.There were significant differences in MTHFR(C677T,A1298C)and MTRR A66G genotypes and allele frequencies between women in Zunyi city and other ethnic groups(P<0.05),such as Yanbian,Langfang,Zibo,Yangjiang,Nanning,Qionghai.Conclusion:MTHFR(C677T,A1298C)and MTRR(A66G)gene type frequency in women in Zunyi city were different from others minorities,which could guide for a more individualized folic acid supplement program for different ethnic women.