不良妊娠结局患者和正常人群亚甲基四氢叶酸还原酶基因多态性的比较  

Comparison of MTHFR gene polymorphisms in patients with adverse pregnancy outcomes and normal subjects

作　　者：梁玲芝[1] 许美芬[1] 陈贤君[1] 鲍玲芬 杨英梅 潘一红[2] LIANG Ling-zhi;XU Mei-fen;CHEN Xian-jun;BAO Ling-fen;YANG Ying-mei;PAN Yi-hong(Clinical Laboratory,Taizhou Central Hospital,Taizhou,Zhejiang 318000,China)

机构地区：[1]台州市中心医院检验科,浙江台州318000 [2]台州市中心医院妇产科,浙江台州318000

出　　处：《中国卫生检验杂志》2018年第15期1862-1864,1867,共4页Chinese Journal of Health Laboratory Technology

基　　金：台州市科技局科研基金资助项目(162yw02-6);台州市科技局科研基金资助项目(15yw02-1)

摘　　要：目的研究台州地区不良妊娠结局育龄妇女与正常人群育龄妇女亚甲基四氢叶酸还原酶(methylenetrahydrofolate reductase,MTHFR)基因C677T和A1298C基因型的分布情况,探讨MTHFR C677T和A1298C基因位点多态性与不良妊娠结局的相关性。方法应用实时荧光定量PCR仪检测MTHFR C677T和A1298C位点基因多态性,并进行基因分型。结果观察组和对照组MTHFR C677T位点TT基因型频率为23.39%和12.68%,差异有统计学意义(χ2=6.595,P<0.05)。T等位基因频率在观察组和对照组分别为43.15%和31.69%,差异有统计学意义(χ2=7.450,P<0.01)。MTHFR A1298C位点CC基因型在观察组和对照组差异无统计学意义(χ2=1.639,P>0.05)。C等位基因在观察组和对照组相比差异无统计学意义(χ2=1.334,P>0.05)。结论 MTHFR C677T位点的多态性和不良妊娠结局密切相关。台州地区育龄妇女人群MTHFR基因的分布特点与群体遗传学特征具有地域特异性。Objective To investigate the distribution of methylenetetrahydrofolate reductase（MTHFR） C677 T and A1298 C genotypes in pregnancy outcomes and normal women of childbearing age in Taizhou. To investigate the association of MTHFR C677 T and A1298 C gene polymorphisms with adverse pregnancy outcomes. Methods Real-time fluorescent quantitative PCR was used to detect C677 T and A1298 C polymorphisms and genotype of MTHFR. Results The TT genotype frequencies of MTHFR C677 T loci in the observation group and the control group were 23. 39% and 12. 68%,and the difference was statistically significant（χ2= 6. 595,P〈0. 05）. The allele frequencies of T were 43. 15% and 31. 69% in the observation group and the control group,and the difference was statistically significant（χ2= 7. 450,P〈0. 01）. There was no statistical significance on the difference in MTHFR A1298 C CC genotype between the observation group and the control group（χ2= 1. 639,P〈0. 05）. The C allele was not significantly different between the observation group and the control group（χ2= 1. 334,P〈0. 05）. Conclusion Polymorphisms in the MTHFR C677 T locus are associated with adverse pregnancy outcomes. The distribution characteristics of MTHFR gene and population genetic characteristics of women of childbearing age in Taizhou area have regional specificity.

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 不良妊娠 

分 类 号：R714.2[医药卫生—妇产科学]