先兆流产与MTHFR、MTRR基因多态性的关系  

Investigation of the correlation of genetic polymorphism of MTHFR and MTRR and the threatened abortion

作　　者：李小兰 林琼珊[2] 鲁衍强 李瑛 汤萍 陈春宝 杨琦[5] 

机构地区：[1]重庆市黔江区中心医院妇产科,重庆409099 [2]海南省三亚市妇幼保健院妇产科,572000 [3]上海靶向分子医学研究所,上海200433 [4]海南主健细胞分子遗传医学检验中心,海口570206 [5]中国疾病预防控制中心妇幼保健中心,北京100101

出　　处：《重庆医学》2017年第6期770-772,共3页Chongqing medicine

基　　金：中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(FY-ZX-ZD-0050);三亚市医疗卫生科技创新项目(YW1231)

摘　　要：目的调查叶酸代谢相关基因5,10-亚甲基四氢叶酸还原酶(MTHFR)、甲硫氨酸合成酶还原酶(MTRR)多态性与先兆流产的关系。方法选择海南省三亚市妇幼保健院在2009-2011的139例具有先兆流产症状的育龄妇女(病例组)和139例健康对照(对照组)来进行病例对照研究,通过刮取受检者口腔黏膜上皮细胞,提取其基因组DNA,对受检者MTHFR和MTRR基因多态性采用荧光定量PCR进行分析检测。通过分析病例组和对照组基因多态性的分布差异,评估其与先兆流产的相关性。结果病例组和对照组基因分布均符合Hardy-Weinberg平衡定律,但经比较分析,病例组MTHFR C677T、MTHFR A1298C和MTRR A66G的基因型构成与对照组比较差异均无统计学意义(P>0.05)。结论在先兆流产患者和健康人中,基因多态性分布无显著差异,叶酸代谢相关基因是否为先兆流产的风险因子还有待进一步研究。Objective To investigate the influence of the genotype distribution of methylenetetrahydrofolate reductase（MTHFR）C677T,A1298 Cand methionine synthase reductase（MTRR）A66Gin threatened abortion of Chinese Han gestationalage women in Sanya city,which involved in the folic acid biosynthetic pathway among.Methods One hundred and thirty-nine samples of case group and the same number of control group were recruited from Sanya region in Hainan Province.Genomic DNA was extracted from the mucosal epithelium of the subjects.The gene polymorphisms of MTHFR and MTRR were detected by Fluorescence quantitative PCR technology.The distribution frequencies of both case group and control group were analyzed and compared,to investigate the effect of the gene polymorphisms on threatened abortion.Results Both the case group and the control group complied with Hardy-Weinberg law.The genotype frequency of MTHFR C677 T,MTHFR A1298 Cand MTRR A66 Gwere not significantly different.Conclusion This study suggests that the gene polymorphism which involved in folic metabolism was not significantly different from the group of threatened abortion and the control group,and whether the metabolism related genes are the risk factors of threatened abortion need to be further discussed.

关 键 词：叶酸代谢障碍 流产 先兆 基因 多态性 单核苷酸 5 10-亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 

分 类 号：R714.21[医药卫生—妇产科学]