佛山地区不良妊娠结局与MTHFR基因C677T位点多态性相关性研究  

Correlation between adverse pregnancy outcomes and MTHFR gene C677T polymorphism in Foshan area

作　　者：杨康 周少雄 欧阳佩雯 庄锡伟 彭健桥 YANG Kang;ZHOU Shaoxiong;OUYANG Peiwen;ZHUANG Xiwei;PENG Jianqiao(Department of Laboratory Pathology and Diagnosis,Foshan Fuxing Chancheng Hospital,Foshan,Guangzhou 528000,China)

机构地区：[1]佛山复星禅诚医院检验病理诊断部,广东佛山528000

出　　处：《检验医学与临床》2022年第15期2105-2107,共3页Laboratory Medicine and Clinic

摘　　要：目的研究佛山地区不良妊娠结局患者与正常妊娠女性亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点分布情况,探讨佛山地区不良妊娠结局与MTHFR基因C677T位点多态性的关系。方法选取2019年6月至2021年5月该院不良妊娠结局患者(病例组)454例和同期正常妊娠女性(对照组)265例,应用荧光原位杂交法对两组的MTHFR C677T基因位点进行检测,分析检测结果在病例组与对照组中的差异及MTHFR C677T基因型发生不良妊娠结局的情况。结果病例组中野生型(CC型)255例(56.18%)、突变杂合型(CT型)147例(32.37%)、突变纯合型(TT型)52例(11.45%),突变T基因频率27.64%;对照组中CC型166例(62.64%)、CT型89(33.58%)、TT型10例(3.77%),突变基因T基因频率20.60%。两组女性基因型频率及等位基因频率比较,差异均有统计学意义(P<0.05)。TT型女性发生不良妊娠结局的风险为CC型女性的3.385倍(P<0.05)。结论佛山地区不良妊娠结局患者与正常妊娠女性MTHFR C677T基因型频率及等位基因频率存在差异,MTHFR C677T基因多态性与女性妊娠发生不良结局有一定关系。Objective To study the distribution of methylenetetrahydrofolate reductase(MTHFR)gene C677T locus between patients with adverse pregnancy outcome in Foshan area and normal pregnant women,and to explore the relationship between adverse pregnancy outcome and the polymorphism of MTHFR gene C677T locus in Foshan area.Methods Totally 454 patients with adverse pregnancy outcomes in the hospital(case group)and 265 normal pregnant women(control group)From June 2019 to May 2021 were selected.Fluorescence in situ hybridization was used to analyze the MTHFR C677T locus of the two groups.The difference of test results between the case group and the control group and the adverse pregnancy outcome of MTHFR C677T genotype were analyzed.Results In the case group,there were 255 cases(56.18%)of CC type,147(32.37%)of CT type,52 cases of TT type(11.45%),and the frequency of mutant T gene was 27.64%.In the control group,there were 166 cases of CC type(62.64%)and 89 cases of CT type(33.58%),10 cases of TT type(3.77%),and the frequency of the mutant gene T gene was 20.60%.There were significant differences in genotype frequency and allele frequency between the two groups(P<0.05).The risk of adverse pregnancy outcomes in TT type women was 3.385 times higher than that in CC type women(P<0.05).Conclusion There are differences in the distribution of MTHFR C677T genotypes and allele frequencies between patients with adverse pregnancy outcomes and normal pregnant women in Foshan area.MTHFR C677T gene polymorphism is associated with adverse pregnancy outcomes in women.

关 键 词：不良妊娠 MTHFR C677T基因 多态性 

分 类 号：R715.5[医药卫生—妇产科学]