T locus shows no evidence for linkage disequilibrium or mutation in American caucasian neural tube defect families

Marcy C. Speer, Elizabeth C. Melvin, Kristi D. Viles, Kim A. Bauer, Evadnie Rampersaud, Courtney Drake, Timothy M. George, David S. Enterline, Joanne F. Mackey, Gordon Worley, John Gilbert, Jeffery S. Nye, Joanna Aben, Arthur Aylsworth, Cynthia Powell, Timothy Brei, Connie Buran, Joann Bodurtha, Kathleen Sawin, Mark S. DiasBennans Iskandar, Bonnie Ohm, Nicole Lasarsky, David McLone, Joy Ito, W. Jerry Oakes, Marion Walker, Paula Peterson

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

We investigated the T locus as a candidate gene in a series of patients and families with lumbosacral myelomeningocele. Single-strand conformation polymorphism (SSCP) analysis was used to identify sequence variation in all 8 exons and in intron 7 of this locus. We found evidence of substantial polymorphism within this locus, as previously reported [Papapetrou et al., 1999, J Med Genet 36:208-213], and moderately significant evidence of linkage disequilibrium with the CacI polymorphism of exon 8. However, when the locus was considered as a whole, with all single nucleotide polymorphisms (SNPs) integrated into a haplotype, there was no evidence for linkage disequilibrium. In addition, we did not identify any new sequence variants. Thus, we conclude that the T locus is not a major locus for human NTDs in this sample.

Original languageEnglish
Pages (from-to)215-218
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume110
Issue number3
DOIs
StatePublished - Jul 1 2002
Externally publishedYes

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Keywords

  • Lumbosacral myelomeningocele
  • Neural tube defects
  • T locus

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Speer, M. C., Melvin, E. C., Viles, K. D., Bauer, K. A., Rampersaud, E., Drake, C., George, T. M., Enterline, D. S., Mackey, J. F., Worley, G., Gilbert, J., Nye, J. S., Aben, J., Aylsworth, A., Powell, C., Brei, T., Buran, C., Bodurtha, J., Sawin, K., ... Peterson, P. (2002). T locus shows no evidence for linkage disequilibrium or mutation in American caucasian neural tube defect families. American Journal of Medical Genetics, 110(3), 215-218. https://doi.org/10.1002/ajmg.10436