对法国神经管缺陷患者亚甲基四氢叶酸还原酶基因C677T突变的筛查。
Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.
作者信息
Mornet E, Muller F, Lenvoisé-Furet A, Delezoide A L, Col J Y, Simon-Bouy B, Serre J L
机构信息
Laboratoire de Cytogénétique et Génétique Moléculaire Humaine, Université de Versailles-Saint Quentin, France.
出版信息
Hum Genet. 1997 Oct;100(5-6):512-4. doi: 10.1007/s004390050544.
We report the analysis of the distribution of the C677T mutation on the methylenetetrahydrofolate reductase (MTHFR) gene in prenatally diagnosed neural tube defects (NTD) cases and controls. In contrast to previous reports, we found the same distribution in fetuses with NTD and controls, which suggests that the MTHFR C677T mutation cannot be regarded as a genetic risk factor for NTD.
我们报告了对产前诊断的神经管缺陷（NTD）病例和对照中，亚甲基四氢叶酸还原酶（MTHFR）基因上C677T突变分布的分析。与之前的报告相反，我们发现在患有NTD的胎儿和对照中该突变分布相同，这表明MTHFR C677T突变不能被视为NTD的遗传风险因素。
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