平顶山地区汉族育龄女性MTHFR基因多态性研究

Study on MTHFR gene polymorphism in women of childbearing age of Han ethnic group in Pingdingshan Region

目的 研究河南省平顶山地区汉族育龄女性亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性分布,为育龄女性合理补充叶酸提供分子医学理论依据。方法 选取2017-01-01-2020-11-30平顶山市妇幼保健院行孕前或孕期检查的2 453名平顶山地区汉族育龄女性作为研究对象。采用PCR-金磁微粒层析法测定其MTHFR C677T位点的基因型,分析该地区基因多态性的分布特征,并与其他地区的数据进行比较,统计学分析采用χ^(2)检验。结果 Hardy-Weinberg遗传平衡检验结果显示,实际频数与理论频数之间差异无统计学意义,χ^(2)=0.600,P>0.05。表明入组对象的基因多态性分布符合遗传平衡,该样本具有本区域群体代表性。平顶山地区汉族育龄女性MTHFR C677T基因型构成比为野生型(CC)、纯合突变型(TT)和杂合突变型(CT),占比分别为16.3%、46.8%和36.9%;野生等位基因(C)、突变等位基因(T)频率分别为39.7%和60.3%。与其他地区的数据分析比较结果显示,MTHFR C677T基因型与等位基因频率与郑州地区相比,差异无统计学意义,P>0.05;与北方地区齐齐哈尔、长春、营口、张家口、太原、烟台,南方地区宜兴、武汉、长沙、六盘水、柳州、阳江比较,差异有统计学意义,均P<0.05。结论 平顶山地区汉族育龄女性MTHFR C677T基因多态性分布具有地域特异性,>60%的育龄女性携带叶酸代谢障碍高风险基因。因此,应重视这部分人群的叶酸增补,为其制定个体化的叶酸增补方案。

Objective To study the distribution of gene polymorphisms of methylenetetrahydrofolate reductase(MTHFR)C677T in women of childbearing age of Han ethnic group in Pingdingshan area of Henan province,and to provide a molec-ular medical theoretical basis for rational folic acid supplementation in women of childbearing age.Methods A total of 2453 cases of Han women of childbearing age in Pingdingshan area who came to Maternal and Child Health Hospital of Pingdingshan for pre-pregnancy or pregnancy examination from January 1,2017 to November 30,2020 were selected as re-search objects.The gene type of MTHFR C677T was detected by PCR-gold magnetic particle chromatography.and the distribution characteristics of gene polymorphism was analyzed and compared with the data in the other regions.Statistical analysis was conducted using x’test.Results The Hardy Weinberg genetic balance test results showed that there was no statistically significant difference between the actual frequency and the theoretical frequency,with x=0.600 and P>0.o5.This indicated that the distribution of gene polymorphisms of the participants was consistent with the genetic bal-ance.This sample was representative of the local population.In the Han women of childbearing age in Pingdingshan area,the genotype compusition of MTHFRC677T was CC,TT and CT,accounting for 16.3%,46.8%and 36.9%,respective-ly,and the gene frequency of allele C and T was 39.7%and 60.3%,respectively.As compared those the data in Zheng-zhou City,there was no significant difference in the MTHFR C677T genotype and allele frequency(P>0.05),However there was significant differences in the MTHFRC677T genotype and allele frequency between Pingdingshan area and the northern area including Qiqihaer,Changchun,Yingkou,Zhangjiakou,Taiyuan,Yantai,and the southern area including Yixing,Wuhan,Changsha,Liupanshui,Liuzhou,Yangjiang(P<0.05).Conclusions The distribution of MTHFR C677T gene polymorphism in the Han women of childbearing age in Pingdingshan area has obvious regional specificity.More than 60%of women of childbearing age carry a high-risk gene for folic acid metabolism disorder.Therefore,we should attach importance to the supplementation of folic acid,and make personalized supplementary plan.