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为了探讨母亲的亚甲基四氢叶酸还原酶基因Ｃ６７７Ｔ突变和神经管缺陷发生的关系，我们采用ＰＣＲＲＦＬＰ技术对２７ 位生过ＮＴＤ患儿的母亲和２４ 位生过正常孩子的母亲的等位基因进行了检测。结果发现正常对照母亲组中ＶＶ 基因型的频率为１２－５％ ，而生过ＮＴＤ患儿母亲组中ＶＶ 基因型的频率为３３－３％ ，携带ＶＶ 基因型的母亲生ＮＴＤ患儿的危险性比非ＶＶ 基因型的母亲提高３ 倍。因此，我们认为在ＮＴＤ 发生和母亲的ＭＴＨＦＲ的ＭＴＨＦＲＣ６７７Ｔ突变有一定的关联。
In order to investigate the relationship between maternal methylenetetrahydrofolate reductase C677T mutation and neural tube defects, we used PCR RFLP technique to evaluate the equivalence of mothers with 27 NTD mothers and 24 mothers with normal children The gene was tested. The frequency of VV genotypes in the normal control mothers group was found to be 12-5%, whereas the frequency of VV genotypes in mothers with NTD was 33-3%, and the risk of mothers with VV genotypes was higher in mothers with NTD Sex is threefold higher than mothers with non-VV genotypes. Therefore, we believe that there is a certain relationship between NTD occurrence and MTHFRC677T mutation in MTHFR of the mother.