摘要
目的:探讨叶酸代谢过程中的关键酶亚甲基四氢叶酸还原酶(MTHFR)基因C677T、A1298C位点和甲硫氨酸合成酶还原酶(MTRR)基因A66G位点多态性与不良孕产史的关系。方法:选取359例有不良孕产史的妇女和1032例正常生育妇女,采集口腔黏膜上皮细胞提取基因组DNA,采用实时荧光定量PCR技术对MTHFR基因C677T、A1298C位点和MTRR基因A66G位点的多态性进行检测,分析多态基因型的分布特点及其与不良孕产的关系。结果:不良孕产史组MTHFR基因C677T位点的TT突变纯合型、A1298C位点的CC突变纯合型和MTRR基因A66G位点GG突变纯合型基因频率均高于对照组(X^2=4.95,P<0.05;X^2=5.92,P<0.05;X^2=10.73,P<0.01);而MTHFR基因C677T位点、A1298C位点和MTRR基因A66G位点的AA野生纯合型基因频率均低于对照组(X2=31.60,P<0.01;X^2=16.69,P<0.01;X^2=9.47,P<0.01)。结论:MTHFR基因C677T、A1298C位点和MTRR基因A66G位点的突变纯合型基因频率的增加与不良孕产的发生有关。
Objective： To explore the relationship between the gene polymorphism of methylenetetrahydrofolate reductase（MTHFR）C677T,A1298C and methionine synthase reductase（MTRR）A66G among women with abnormal pregnancy history. Methods： A total of 359 women with abnormal pregnancy history （study group） and 1032 controls were included in this study. Oral epithelial cell samples were collected to extract genome DNA, and fluorescence quantitative polymerase chain reaction（FQ-PCR）technique was used to detect gene polymorphism of MTHFR and MTRR and analyze the correlation between MTHFR and MTRR gene polymorphism distribution and the occurrence of undesirable pregnancy. Results： The frequencies of MTHFR 677TT, MTHFR 1298CC and MTRR 66GG homozygous mutation in the study group were statistically significantly higher than those in the control group（X^2=4.95,P〈0.05;X^2=5.92,P〈0.05;X^2==10.73,P〈0.01）; The frequencies of MTHFR 677AA, MTHFR 1298AA and MTRR 66AA homozygous in the study group were statistically significantly lower than those in the control group. Conclusion： The homozygous mutation of MTHFR C677T, MTHFR A1298C and MTRR A66G may be related to the increased risk of abnormal pregnancy.
出处
《中国计划生育学杂志》
2015年第5期318-320,共3页
Chinese Journal of Family Planning
关键词
亚甲基四氢叶酸还原酶
甲硫氨酸合成酶还原酶
基因多态性
不良孕产史
Methylenetetrahydrofolate reductase
Methionine synthase reductase
Gene polymorphism
Abnormal pregnancy history
Abnormal pregnancy history
