陕西省延安地区育龄女性MTHFR基因多态性和国内多地区相关报道比较分析

Comparative Analysis of MTHFR Gene Polymorphisms in Women of Childbearing Age in Yan'an Area of Shaanxi Province and Related Reports in Many Regions in China

目的分析陕西省延安地区育龄女性叶酸代谢关键酶亚甲基四氢叶酸还原酶(MTHFR)的基因多态性及地区遗传分布特征。方法以延安市第二医疗集团1 508例育龄女性为研究对象,用荧光定量PCR法检测其MTHFR C677T,A1298C基因位点多态性,并和国内多地区相关报道比较分析。结果该地区三种表现型正常型、较弱型和弱型分别占22.5%,50.7%和26.8%。MTHFR C677T位点CC,CT和TT基因频率分别为24.7%,48.6%和26.7%;MTHFRA1298C位点AA,AC和CC基因频率分别为71.0%,26.7%和2.3%,与已报道的南方城市湘潭、武汉、南宁等地区相比,差异均有统计学意义(P<0.05)。MTHFR C677T和A1298C等位基因分布情况与其基因型分布情况类似。结论该地区育龄女性MTHFR基因以基因型(MTHFR C677T/A1298C)CT/AA型为主,MTHFR C677TTT纯合突变型呈现北高南低的趋势,其T等位基因频率也呈现随纬度的递减而降低的走向。

Objective To analyze the gene polymorphisms of 5,10-methylenetetrahydrofolate reductase(MTHFR),a key enzyme in folate metabolism,and its genetic distribution in women of childbearing age in Yan’an area.Methods A total of 1508 women of childbearing age in Yan’an Second Medical Group were selected as the study subjects.Their MTHFR C677 T and MTHFR A1298 Cgene locus polymorphisms were analyzed by fluorescent quantitative PCR and analyzed.Regional polymorphism distribution characteristics of the genes,and compared with related reports in various regions of China.Results The gene expression pattern of folicacid metabolizing enzyme was 22.5%for women of reproductive age in Yan’an and50.7%for weaker.26.8%of the phenotypes were weak.The frequencies of CC,CT and TT genes of MTHFR 677 in Yan’an were 24.7%,48.6%and 26.7%,respectively.The frequencies of AA,AC and CC genes in 1 298 MTHFR sites in Yan’an were 71.0%,26.7%and 2.3%,respectively.There was a statistically significant difference in gene distribution among Xiangtan,Wuhan and Nanning,etc(P<0.05).The distribution of the alleles MTHFR C677 Tand A1298 Cwas similar to that of their genotypes.Conclusion The polymorphism of MTHFR gene in women of childbearing age in Yan’an Area in Shaanxi Province was dominated by the genotype(MTHFR C677 T/A1298 C)CT/AA type,and the pure mutation of MTHFR C67 TTT showed a trend of high North and low South,and the gene frequency of allele T also showed a trend of decreasing with the decrease of latitude.