SCREENING OF THE C677T MUTATION ON THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IN FRENCH PATIENTS WITH NEURAL-TUBE DEFECTS

Authors
MORNET E MULLER F LENVOISEFURET A DELEZOIDE AL COL JY SIMONBOUY B SERRE JL
Citation
E. Mornet et al., SCREENING OF THE C677T MUTATION ON THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IN FRENCH PATIENTS WITH NEURAL-TUBE DEFECTS, Human genetics, 100(5-6), 1997, pp. 512-514
Citations number
12
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
100
Issue
5-6
Year of publication
1997
Pages
512 - 514
Database
ISI
SICI code
0340-6717(1997)100:5-6<512:SOTCMO>2.0.ZU;2-C
Abstract
We report the analysis of the distribution of the C677T mutation on th e methylenetetrahydrofolate reductase (MTHFR) gene in prenatally diagn osed neural tube defects (NTD) cases and controls. In contrast to prev ious reports, we found the same distribution in fetuses with NTD and c ontrols, which suggests that the MTHFR C677T mutation cannot be regard ed as a genetic risk factor for NTD.