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Abstract Objective: To explore the 5, 10-methylenetetrahydrofolate reductase (MTHFR) and 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) gene polymorphisms among the Han women in Yanbian Prefecture. Method: A total of 2620 Han women were recruited. And their oral epithelial cells were collected to extract genome DNA in order to detect gene polymorphisms of MTHFR and MTRR using fluorescence quantitative PCR. Then the results were compared with those in other cities in China. Results: The frequency of MTHFR 677TT among Yanbian women is significantly different to Urumqi, Langfang, Yinchuan, Jiyuan, Zibo, Zhenjiang, Xiangtan, Deyang, Huizhou, Nanning and Qionghai (P<0.05). The frequency of MTHFR 1298CC is significantly different to Jiyuan, Zibo, Zhenjiang, Xiangtan, Deyang, Huizhou, Nanning and Qionghai (P<0.05). The frequency of MTRR A66GG is significantly different to Deyang and Qionghai, but not different to Urumqi, Langfang, Yinchuan, Jiyuan, Zibo, Zhenjiang, Xiangtan, Huizhou, and Nanning. Conclusion: The MTHFR, MTRR polymorphism distribution of Han women in Yanbian Province is region specific, respectively.
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