Neural Tube Defects and 19 bp Deletion Within Intron-1 of Dihydrofolate Reductase Gene

Akar N., Akar E., Egin Y., Deda C., ARSAN S., Ekim M.

TURKISH JOURNAL OF MEDICAL SCIENCES, vol.38, no.5, pp.383-386, 2008 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 5
  • Publication Date: 2008
  • Journal Name: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.383-386
  • Keywords: Neural tube defects, spina bifida, dihydrofolate reductase, SPINA-BIFIDA, RISK-FACTOR, DHFR, POLYMORPHISM
  • Ankara University Affiliated: Yes

Abstract

Aims: Dihydrofolate reductase (DHFR) is necessary for the reduction of the ingested folates before they are used in the body metabolism. Thus, the DHFR enzyme has an important role in folate supplementation and the DHFR gene is a strong candidate for a teratogenic locus for neural tube defects (NTDs). There is a 19 bp deletion within the first intron of the DHFR gene, which may have an effect on folate reduction. We thus studied this mutation in Turkish spina bifida patients and their mothers to determine whether there is an association with the occurrence of NTD.