叶酸代谢相关基因多态性与不良妊娠结局的相关性研究  

Study on the relations of genetic polymorphisms of folic metabolic enzymes and adverse pregnancy outcomes

作　　者：孙庆梅[1] 林晓娟[1] 田昕 寇瑞 姜岩[1] 傅玉[1] 唐中锋 赵媛[1] 宋筱玉[1] SUN Qing-Mei;LIN Xiao-Juan;TIAN Xin(Gansu Provincial Maternity and Child-care Hospital,Lanzhou,Gansu 730050,China)

机构地区：[1]甘肃省妇幼保健院,甘肃兰州730050 [2]海南主健细胞分子遗传医学检验中心,海南海口570100 [3]上海恒健生物技术有限公司,上海200433

出　　处：《中国妇幼保健》2020年第12期2281-2284,共4页Maternal and Child Health Care of China

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-0046);甘肃省自然科学基金(18JR3RA031);甘肃省出生缺陷防控重点实验室(1506RTSA158)。

摘　　要：目的探讨5,10-亚甲基四氢叶酸还原酶(MTHFR)基因和甲硫氨酸合成酶还原酶(MTRR)基因与不良妊娠结局的相关性。方法选取2016年11月-2018年1月在该院进行孕前或孕期检查的汉族女性1006例,将其分为有不良孕产史的病例组619例(其中包括复发性流产105例、胎儿畸形271例、其他不良妊娠结局243例)和有健康生育史的对照组387例,所有入组人群进行MTHFR C677T、A1298C和MTRR A66G位点的多态性检测,探讨其与不良妊娠结局的相关性。结果病例组、复发性流产及胎儿畸形人群的MTHFR-677 TT基因型频率高于对照组,病例组、复发性流产人群的MTRR-66 AG基因型频率高于对照组,差异有统计学意义(P<0.05)。结论MTHFR C677T和MTRR A66G位点的基因多态性分布与不良妊娠的发生有相关性,MTHFR-677 TT和MTRR-66 AG是不良妊娠发生的独立危险因素。Objective To investigate the relationship between genetic polymorphisms of folic metabolic enzymes and adverse pregnancy outcomes.Methods 1006 women in prepregnancy or early pregnancy were selected as the research objects in our hospital from November 2016 to January 2018.According to whether there was adverse pregnancy,the patients are divided into the experimental group(619 cases of adverse pregnancy,including 105 cases of recurrent abortion,271 cases of fetal anomaly)and control group(387 cases without adverse pregnancy).Genotype of MTHFR C677T、A1298C and MTRR A66G site was detected for the 1006 women.Results The genotype frequency of MTHFR 677TT in experimental group,recurrent abortion women and fetal anomaly women was significantly higher than control group(P<0.05).The genotype frequency of MTRR 66AG in experimental group and recurrent abortion women was significantly higher than control group(P<0.05).Conclusion The genetic polymorphisms of MTHFR C677T and MTRR A66G may contribute to adverse pregnancy outcomes.MTHFR-677 TT and MTRR-66 AG are independent risk factors for adverse pregnancy.

关 键 词：5 10-亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 不良妊娠结局 基因多态性 

分 类 号：R714.2[医药卫生—妇产科学]