张术鑫,魏明纯,冯勇,鲁衍强,李国侠,胡季芳,杨琦

• 1:固始县妇幼保健院
• 2:上海张江普汇转化医学研究院
• 3:中国疾病预防控制中心妇幼保健中心

摘要(Abstract)：

目的调查固始县育龄女性叶酸代谢关键酶5, 10-亚甲基四氢叶酸还原酶MTHFR C677T、A1298C与甲硫氨酸合成酶还原酶MTRR A66G基因位点多态性与不良孕产的相关性。方法到固始县妇幼保健院进行孕期保健的育龄女性,选取57例曾有不良孕产史的女性作为病例组,110例正常女性作为对照组,采集口腔黏膜细胞,提取人体DNA,采用荧光定量PCR方法检测MTHFR C677T、A1298C和MTRR A66G基因位点,并进行统计学分析比较。结果病例组和对照组MTHFR和MTRR基因分布符合Hardy-Weinberg平衡定律。MTHFR C677T高风险基因型TT型在不良孕产史病例组的分布频率为(27.3%)高于对照组(16.4%),差异有统计学意义(χ~2=6.41,P<0.05),MTHFR A1298C和MTRR A66G基因位点多态性在两组中的分布无统计学差异(P>0.05)。结论 MTHFR C677T中TT基因型增加了不良妊娠的发生风险,对于该位点检测出TT的孕妇,应于孕前补充足量的叶酸,加强产检来降低不良妊娠结局的发生。

关键词(KeyWords)： MTHFR;MTRR;不良孕产;基因多态性

Abstract:

Keywords:

基金项目(Foundation): 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-0170)

作者(Author): 张术鑫,魏明纯,冯勇,鲁衍强,李国侠,胡季芳,杨琦

DOI: 10.13515/j.cnki.hnjpm.1006-8414.2020.12.014

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