title: Genetic studies in neural tube defects. NTD Collaborative Group.
abstract: 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.
authors.affiliation: Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: E C
authors.initials: EC
authors.lastname: Melvin
authors.forename: T M
authors.initials: TM
authors.lastname: George
authors.forename: G
authors.initials: G
authors.lastname: Worley
authors.forename: A
authors.initials: A
authors.lastname: Franklin
authors.forename: J
authors.initials: J
authors.lastname: Mackey
authors.forename: K
authors.initials: K
authors.lastname: Viles
authors.forename: N
authors.initials: N
authors.lastname: Shah
authors.forename: C R
authors.initials: CR
authors.lastname: Drake
authors.forename: D S
authors.initials: DS
authors.lastname: Enterline
authors.forename: D
authors.initials: D
authors.lastname: McLone
authors.forename: J
authors.initials: J
authors.lastname: Nye
authors.forename: W J
authors.initials: WJ
authors.lastname: Oakes
authors.forename: C
authors.initials: C
authors.lastname: McLaughlin
authors.forename: M L
authors.initials: ML
authors.lastname: Walker
authors.forename: P
authors.initials: P
authors.lastname: Peterson
authors.forename: T
authors.initials: T
authors.lastname: Brei
authors.forename: C
authors.initials: C
authors.lastname: Buran
authors.forename: J
authors.initials: J
authors.lastname: Aben
authors.forename: B
authors.initials: B
authors.lastname: Ohm
authors.forename: I
authors.initials: I
authors.lastname: Bermans
authors.forename: M
authors.initials: M
authors.lastname: Qumsiyeh
authors.forename: J
authors.initials: J
authors.lastname: Vance
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: M C
authors.initials: MC
authors.lastname: Speer
mesh_terms: D000818:Animals; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D015331:Cohort Studies; D005492:Folic Acid / Q000378:metabolism; D008040:Genetic Linkage; D005821:Genetic Techniques; D006801:Humans; D009436:Neural Tube Defects / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors
chemical_list: D005492:Folic Acid