四川东北部地区孕妇MTHFR C677T基因多态性分布研究  

Study on Distributions of MTHFR C677T Gene Polymorphism in Pregnant Women from Northeast of Sichuan

作　　者：方莉[1,2] 母春兰[2] 张玲琳[2] 许媛[1] 赵维皎[1] 陈莹[1] Fang Li;Mu Chunlan;Zhang Linglin;Xu Yuan;Zhao Weijiao;Chen Ying(Clinical Laboratory, Affilated Hospital of Noah Sichuan Medical College, Nanchong, 637000;Department of Medical Laboratory, North Sichuan Medical College, Nanchong, 637000)

机构地区：[1]川北医学院附属医院检验科,南充637000 [2]川北医学院医学检验系,南充637000

出　　处：《基因组学与应用生物学》2018年第4期1820-1824,共5页Genomics and Applied Biology

基　　金：四川省大学生创新创业训练计划项目(201510634018)资助

摘　　要：为了研究四川东北部地区孕妇亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase,MTHFR）基因C677T多态性的分布情况,从而指导孕妇的叶酸补充,我们从我国四川东北部地区收集了2 544例孕妇血液样本,并运用PCR-基因芯片技术检测了MTHFR C677T基因多态性,我们发现这些孕妇的MTHFR基因中突变型CT和TT比野生型CC高22.24%,其中野生型CC占38.88%,杂合突变型CT占47.13%,纯合突变型TT占13.99%（χ2=251.85,p〈0.05）。结合现有对MTHFR基因多态性与流产、不孕、畸胎瘤、神经管缺陷、胚胎停止发育等的研究,我们对MTHFR C677T基因多态性的调查将对相关疾病的临床诊疗有一定指导意义。This study aimed to explore the distribution of methylenetetrahydrofolate reductase（MTHFR） C677 T gene polymorphism in pregnant women from northeast of Sichuan so as to provide guide on foliage supplementation for pregnant women. We collected 2 544 fasting blood samples of pregnant women from Northeast Sichuan and used PCR-gene chip technology to detect the gene polymorphism of MTHFR. We found that the mutant CT and TT in MTHFR gene from these pregnant women were 22.24% higher than wildtype CC, in which wildtype CC accounted for 38.88%, heterozygous mutant CT accounted for 47.13% and homozygous mutant accounted for 13.99%（χ2=251.85, p〈0.05）. Combined with the present researches on the relationship between MTHFR gene polymorphism and abortion, infertility, teratoma, neural tube defects and pregnancy failure, our study on MTHFR gene polymorphism would be helpful for clinical diagnosis and treatment of related diseases.

关 键 词：亚甲基四氢叶酸还原酶(MTHFR) 基因多态性 PCR-基因芯片技术 

分 类 号：R714[医药卫生—妇产科学]