New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy?

@article{Johnson2004New1B,
  title={New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy?},
  author={William G. Johnson and Edward S Stenroos and John R Spychala and Sansnee Chatkupt and Sue X Ming and Steven Buyske},
  journal={American journal of medical genetics. Part A},
  year={2004},
  volume={124A 4},
  pages={339-45}
}
Up to 72% of spina bifida cystica (SB) is preventable by maternal periconceptual folic acid supplementation. The C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene and some other functional polymorphisms are risk factors for SB in some populations. However, despite extensive study, the genetic risk factors for SB are incompletely understood. Polymorphic alleles that diminish bioavailability of reduced folate in the mother during pregnancy could contribute to SB in her fetus… CONTINUE READING
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