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Abstract Objective: To explore the polymorphisms of methylenetetrahydrofolate reductase (MTHFR) C677T, al298C and methionine synthase (MTRR) A66G gene among Chinese Han women in Jingang Town of Zhangjiagang City. Methods: A total of 348 women of childbearing age in Jingang Town of Zhangjiagang City were recruited into this study. Genomic DNA was extracted from oral mucosa cells. Taqman MGB technology was used to detect MTHFR and MTRR gene polymorphisms. The frequencies of different polymorphisms of MTHFR and MTRR were analyzed with HaploView 4.2 and SPSS 19.0. We also compared the differences of gene polymorphisms between the women in Jingang Town and other districts. Results: Among the Han women of reproductive age in Jingang Town, the frequency of MTHFR 677TT genotype(16.7%) was lower than those in Yantai (32.2%), Zhenjiang (21.8%, P all <0.05), while higher than those in Songzi (15.4%), Deyang (13.8%), Kunming (14.1%), Huizhou (10.9%, P all<0.05); The frequency of MTHFR 1298CC genotype(2.9%) was higher than those in Yantai (1.8%), Songzi (2.6%), Kunming (2.7%) and lower than those in Zhenjiang (3.5%), Deyang (6.3%), Huizhou (7.2%, P all <0.05); The frequency of MTRR 66GG genotype(3.5%) was significantly lower than those in Yantai (7.2%), Songzi(6.4%), Deyang (82%, P all<0.01). Conclusion: The MTHFR, MTRR polymorphism distribution of the Han women in Jingang Town is generally higher than those in the south with regional specificity. More and longer folic acid supplement should be improved so as to achieve the purpose of primary prevention.
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