Genetic studies in neural tube defects. NTD Collaborative Group.

Journal Article (Journal Article;Review)

Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifying the genes predisposing to NTD, through linkage analysis and candidate gene analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, PAX3 and MTHFR failed to suggest that these genes play a major role in NTD development in these families. Advances in genetic laboratory and statistical techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches may prove to be challenging due to the difficulty of ascertaining samplable multiplex families.

Full Text

Duke Authors

Cited Authors

  • Melvin, EC; George, TM; Worley, G; Franklin, A; Mackey, J; Viles, K; Shah, N; Drake, CR; Enterline, DS; McLone, D; Nye, J; Oakes, WJ; McLaughlin, C; Walker, ML; Peterson, P; Brei, T; Buran, C; Aben, J; Ohm, B; Bermans, I; Qumsiyeh, M; Vance, J; Pericak-Vance, MA; Speer, MC

Published Date

  • January 2000

Published In

Volume / Issue

  • 32 / 1

Start / End Page

  • 1 - 9

PubMed ID

  • 10765131

International Standard Serial Number (ISSN)

  • 1016-2291

Digital Object Identifier (DOI)

  • 10.1159/000028889


  • eng

Conference Location

  • Switzerland