育龄女性MTHFR基因多态性与HCY关系的研究  

Study on the relationship between the MTHFR gene polymorphism of fertile women and the level of HCY

作　　者：杨丰美[1] 于艳 张丽萍[1] 

机构地区：[1]湖北医药学院附属太和医院妇产科,湖北十堰442000 [2]泰州市姜堰区太宇医院检验科,江苏泰州225500

出　　处：《川北医学院学报》2016年第2期205-207,共3页Journal of North Sichuan Medical College

基　　金：太和医院院级项目(2014JJXM019)

摘　　要：目的:通过对育龄女性叶酸代谢关键酶5,10-亚甲基四氢叶酸还原酶MTHFR C677T的基因多态性检测,分析MTHFR C677T基因多态性与外周血中同型半胱氨酸HCY的关系。方法:选取孕前或孕期育龄女性100名,基因芯片法检测外周血中MTHFR C677T的基因多态性,并对所有育龄女性口服800μg叶酸1个月,循环酶法检测口服叶酸前后不同基因型女性外周血中HCY水平。结果:本地区育龄妇女中MTHFR C677T基因CC型、CT型、TT型的检出频率分别为26%、54%、20%;口服叶酸前CC型、CT型、TT型受试者HCY水平分别为9.5±3.4、11.8±3.1、15.3±3.5,口服叶酸后CC型、CT型、TT型受试者HCY浓度较口服前低,分别为8.1±2.8、8.4±2.7、11.0±3.3,CC型受试者口服叶酸前后平均HCY水平之间差异无统计学意义(P>0.05),CT型和TT型受试者口服叶酸前后平均HCY水平之间差异有统计学意义(P<0.05)。结论:口服叶酸可以改善由于MTHFR C677T基因突变引起的高HCY血症,合理补充叶酸可以避免由于高HCY血症引起的出生缺陷。Objective： To detect the MTHFR gene polymorphism,the HCY levels and analyze the correlation of MTHFR C677 T gene polymorphism and the HCY levels in childbearing age women. Methods： Gene chip method was used to examine the polymorphism,and given dose of folacin 800 μg for a month,and the level of HCY was analyzed by cyclophorase assay in 100 women of childbearing age. Results： Detection rate of gene polymorphism were 26%,54%,20% in CC,CT,TT; before oral folic acid,the HCY levels were 9. 5 ± 3. 4,11. 8 ± 3. 1,15. 3 ± 3. 5 in CC,CT,TT,after oral folic acid,the HCY levels were 8. 1 ± 2. 8,8. 4 ± 2. 7,11. 0 ± 3. 3 in CC,CT,TT. CC genotype groups resulted in no significant difference（ P 〉 0. 05）,and CT,TT genotype groups resulted in significant differences（ P 〈 0. 05）. Conclusion： Oral folic acid can reduce the HCY levels caused by the MTHFR gene C677 T mutation; a reasonable folic acid supplementation can prevent birth defects caused by high HCY levels.

关 键 词：亚甲基四氢叶酸还原酶 同型半胱氨酸 叶酸 多态性 

分 类 号：R715.5[医药卫生—妇产科学]