Genetic studies in neural tube defects

Neural tube defects (NTD) are one of the most common birth defects and are caused by both environmental and genetic factors. The approach to identifyi ng the genes predisposing to NTD, through linkage analysis and candidate ge ne analysis, is reviewed along with characteristics of a large, nationally ascertained cohort of families. Results from specific assessments of p53, P AX3 and MTHFR failed to suggest that these genes play a major role in NTD d evelopment in these families. Advances in genetic laboratory and statistica l techniques have made this a prime opportunity for investigation into the causes of complex disorders, such as NTD. However, traditional approaches m ay prove to be challenging due to the difficulty of ascertaining samplable multiplex families. Copyright(C)2000S.Karger AG, Basel.