天津医药

天津医药 ›› 2016, Vol. 44 ›› Issue (10): 1243-1246.doi: 10.11958/20160099

• 临床研究 • 上一篇    下一篇

叶酸代谢酶MTHFR、MTRR基因多态性与原因不明复发性流产的关系

谢晓媛 张颖 辛力 冷俊宏 鲁衍强 薛琰 朱秀兰   

  1. 1 天津市妇女儿童保健中心（邮编 300070）； 2 天津医科大学总医院； 3 上海靶向分子医学研究所； 4 广州医科大学附属广东省妇儿医院生殖健康与不孕症科
  • 收稿日期:2016-03-03 修回日期:2016-06-28 出版日期:2016-10-15 发布日期:2016-10-21
  • 通讯作者: 朱秀兰 E-mail:xiexiaoyuan2001@163.com
  • 作者简介:谢晓媛（1982）， 女， 主治医师， 硕士， 主要从事妇产科优生与遗传研究
  • 基金资助:
    国家自然科学基金青年科学基金（项目编号 81300479）

The relationship of the folate metabolism related gene polymorphisms of MTHFR and MTRR with unexplained recurrent spontaneous abortion

XIE Xiaoyuan, ZHANG Ying, XIN Li, LENG Junhong, LU Yanqiang, XUE Yan, ZHU Xiulan   

  1. 1 Tianjin Women’ s and Children’ s Health Center, Tianjin 300070, China; 2 Tianjin Medical University General Hospital; 3 Shanghai Institute of Targeted Therapy and Molecular Medicine; 4 Department of Reproductive Health and Infertility, Maternal and Child Health Hospital of Guangdong Province, Guangzhou Medical University, Guangzhou 510000， China
  • Received:2016-03-03 Revised:2016-06-28 Published:2016-10-15 Online:2016-10-21
  • Contact: ZHU Xiulan E-mail:xiexiaoyuan2001@163.com

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摘要： 目的 探讨叶酸代谢相关酶亚甲基四氢叶酸还原酶（MTHFR）、甲硫氨酸合酶还原酶（MTRR）基因多态性与原因不明复发性流产（URSA）之间的关系。 方法 采用病例对照的研究方法， 选取天津医科大学总医院和天津市妇女儿童保健中心 2013 年 1 月 1 日—2015 年 3 月 1 日因 URSA 就诊的非妊娠妇女 244 例（URSA 组）和健康非妊娠妇女 116 例（ 对照组）。 获取口腔黏膜上皮细胞， 使用荧光定量 PCR 检测 MTHFR 基因 C677T、A1298C 位点和 MTRR 基因 A66G 位点的单核苷酸多态性（SNP）， 同时测定 MTHFR 酶活性及红细胞叶酸、血浆叶酸、血浆同型半胱氨酸水平， 分析叶酸代谢相关酶 MTHFR、MTRR 基因多态性与 URSA 之间的关系。 结果 URSA 组 MTHFR C677T 位点 TT 基因型频率高于对照组， CT 基因型频率低于对照组（P＜ 0.05）。 2 组间 MTHFR A1298C、MTRR A66G 基因型频率差异无统计学意义。 URSA 组 MTHFR 酶活性、红细胞叶酸、血浆叶酸水平低于对照组， 同型半胱氨酸水平高于对照组（P＜ 0.05）； URSA 组中＜ 35 岁、≥35 岁患者血浆叶酸、红细胞叶酸、同型半胱氨酸水平差异无统计学意义。结论 MTHFR C677T 基因多态性与 URSA 有一定关系。

关键词: 流产, 自然, 5,10-亚甲基四氢叶酸还原酶（FADH2）, 多态性, 单核苷酸, 原因不明复发性流产, 甲硫氨酸合成酶还原酶

Abstract: Objectives To investigate the relationship of methylenetetrahydrofolate reductase (MTHFR) and methioninesynthase reductase (MTRR) with unexplained recurrent spontaneous abortion (URSA). Methods Case control study was used to select 244 patients with URSA (miscarriage group) and 116 normal women (control group) who were admitted to Tianjin Medical University General Hospital and Tianjin Women’ s and Children’ s Health Center from January 2013 to March 2015. The oral mucosal epithelial cells were extracted using fluorescence quantitative PCR to detect MTHFR gene C677T, A1298C and MTRR gene loci of A66G single nucleotide polymorphisms (SNP). The relationship between folate metabolism related gene polymorphisms of MTHFR and MTRR and URSA was analysed. Results The frequency of C677T genotype MTHFR was significantly higher in URSA group than that in the control group, and the frequency of CT genotype was significantly lower than that of the control group (P<0.05). There was no significant difference in the frequencies of A1298C MTRR and A66G MTHFR between the two groups. The activity of MTHFR, red cell folate and plasma folate levels were significantly lower in URSA group than those of control group. Homocysteine levels were significantly higher in URSA group than those of control group (P<0.05). There were no significant differences in serum folic acid, red cell folate, homocysteine cysteine levels between patients <35 years old and ≥ 35 years old in URSA group. Conclusion C677T MTHFR gene polymorphism is associated with unexplained recurrent spontaneous abortion .

Key words: abortion, spontaneous, 5,10- methylenetetrahydrofolate reductase (FADH2), polymorphism, single nucleotide, unexplained recurrent spontaneous abortion, methionine synthase reductase