Author/Authors :
N. M. J. van der Put، نويسنده , , F. J. M. Trijbels، نويسنده , , L. P. van den Heuvel، نويسنده , , H. J. Blom، نويسنده , , R. P. M. Steegers-Theunissen، نويسنده , , T. K. A. B. Eskes، نويسنده , , E. C. M. Mariman، نويسنده , , M. den Heyer، نويسنده , , P. Frosst، نويسنده , , R. Rozen، نويسنده ,
Abstract :
Periconceptional folate supplementation reduces the risk of neural-tube defects. We studied the frequency of the 677C→T mutation in the 5,10–methylenetetrahydrofolate reductase (MTHFR) gene in 55 patients with spina bifida and parents of such patients (70 mothers, 60 fathers), 5% of 207 controls were homozygous for the 677C→T mutation compared with 16% of mothers, 10% of fathers, and 13% of patients. The mutation was associated with decreased MTHFR activity, low plasma folate, and high plasma homocysteine and red-cell folate concentrations. The 677C→T mutation should be regarded as a genetic risk factor for spina bifida.
