育龄女性基因多态性对补充叶酸降低HCY的影响

目的阐明MTHFRC677T、A1298C和MTRRA66G多态性在河南汉族育龄女性中的分布特征及其对补充叶酸降低HCY的影响。方法选取2011年7月至2013年4月在郑州大学第三附属医院进行优生咨询的育龄女性425名。荧光定量PCR检测MTHFRC677T、A1298C和MTRRA66G的基因多态性；化学发光法测定血叶酸浓度；循环酶法测定血HCY浓度。结果①河南地区汉族育龄女性中MTHFR677T、1298C和MTRR66G等位基因频率分别为62．1％、13．1％、23．7％。②补充叶酸前MTHFRC677T基因型叶酸浓度Tr〈CT〈CC，TT基因型HCY浓度远高于CC和CT基因型（P〈0．001）。400μg／d补充后HCY浓度迅速下降（TT〉CT〉CC），但6．3％CT、16．9％TT基因型HCY浓度没有降低至正常范围。结论河南地区汉族育龄女性具有其他省份不同的遗传特征，MTHFRC677T各基因型对补充叶酸降低HCY的反应不同。

Genetic polymorphism impact lowering homocysteine with folic acid in childbearing age women

Objective To explore the distribution of MTHFR A1298C, C677T and MTRR A66G among Henan women, which impact lowering homocysteine with folic acid. Methods Data collected from 425 Henan reproductive women from July 2011 to April 2013 at the Third Affiliated Hospital of Zhengzhou University for Pregnancy consultant. MTHFR and MTRR polymorphisms were detected by fluorescent quantization PCR. Concentrations of serum folate were measured by chemiluminescence, homocysteine were determined by cyelophorase assay. Results （1）The frequencyies of 677T, 1298C, 66G was 62.1%, 13.1%, 23.7% in Henan Han women. （2）Among all participants, folate concentration trend was TT 〈 CT 〈 CC, homocysteine was significantly higher in TT genotype than the CC, CT （P 〈 0. 001 ）. Homocysteine decreased rapidly after supplementation （TF 〉 CT 〉 CC）. But 6.3% CT, 16.9% TT HCY concentration was not decreased to the normal. Conclusion Henan women have different genetic characteristics from other provinces. MTHFR C677T have difference response in lowering homocysteine with folic acid.