Testing for genetic associations in a spina bifida population: Analysis of the HOX gene family and human candidate gene regions implicated by mouse models of neural tube defects

K. A. Volcik, Susan H Blanton, M. C. Kruzel, I. T. Townsend, G. H. Tyerman, R. J. Mier, H. Northrup

Research output: Contribution to journalArticle

27 Citations (Scopus)

Abstract

Neural tube defects (NTDs) are among the most common severely disabling birth defects in the United States, affecting approximately 1-2 of every 1,000 live births. The etiology of NTDs is multifactorial, involving the combined action of both genetic and environmental factors. HOX genes play a central role in establishing the initial body plan by providing positional information along the anterior-posterior body and limb axis and have been implicated in neural tube closure. There are many mouse models that exhibit both naturally occurring NTDs in various mouse strains as well as NTDs that have been created by "knocking out" various genes. A nonparametric linkage method, the transmission disequilibrium test (TDT), was utilized to test the HOX gene family and human equivalents of genes (when known) or the syntenic region in humans to those in mouse models which could play a role in the formation of NTDs. DNA from 459 spina bifida (SB) affected individuals and their parents was tested for linkage and association utilizing polymorphic markers from within or very close to the HOXA, HOXB, HOXC, and HOXD genes as well as from within the genes/gene regions of eight mouse models that exhibit NTDs. No significant findings were obtained for the tested markers.

Original languageEnglish
Pages (from-to)203-207
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume110
Issue number3
DOIs
StatePublished - Jul 1 2002
Externally publishedYes

Fingerprint

Spinal Dysraphism
Neural Tube Defects
Genetic Testing
Population
Genes
Neural Tube
Live Birth
Extremities
DNA

Keywords

  • HOX genes
  • Mouse models
  • Neural tube defects (NTDs)
  • Spina bifida (SB)
  • Transmission disequilibrium test (TDT)

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Testing for genetic associations in a spina bifida population : Analysis of the HOX gene family and human candidate gene regions implicated by mouse models of neural tube defects. / Volcik, K. A.; Blanton, Susan H; Kruzel, M. C.; Townsend, I. T.; Tyerman, G. H.; Mier, R. J.; Northrup, H.

In: American Journal of Medical Genetics, Vol. 110, No. 3, 01.07.2002, p. 203-207.

Research output: Contribution to journalArticle

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