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 R. Gilbert, Jeffery S. Nye, Joanna Aben, Arthur Aylsworth, Cynthia Powell, Timothy Brei, Connie Buran, Joann Bodurtha, Kathleen Sawin, Mark DiasBennans Iskandar, Bonnie Ohm, Nicole Lasarsky, David McLone, Joy Ito, W. Jerry Oakes, Marion Walker, Paula Peterson

Research output: Contribution to journalArticle

16 Citations (Scopus)

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

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Neural Tube Defects
Linkage Disequilibrium
Exons
Viverridae
Meningomyelocele
Mutation
Introns
Haplotypes
Single Nucleotide Polymorphism
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Speer, M. C., Melvin, E. C., Viles, K. D., Bauer, K. A., Rampersaud, E., Drake, C., ... 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
Speer, Marcy C. ; Melvin, Elizabeth C. ; Viles, Kristi D. ; Bauer, Kim A. ; Rampersaud, Evadnie ; Drake, Courtney ; George, Timothy M. ; Enterline, David S. ; Mackey, Joanne F. ; Worley, Gordon ; Gilbert, John R. ; Nye, Jeffery S. ; Aben, Joanna ; Aylsworth, Arthur ; Powell, Cynthia ; Brei, Timothy ; Buran, Connie ; Bodurtha, Joann ; Sawin, Kathleen ; Dias, Mark ; Iskandar, Bennans ; Ohm, Bonnie ; Lasarsky, Nicole ; McLone, David ; Ito, Joy ; Oakes, W. Jerry ; Walker, Marion ; Peterson, Paula. / T locus shows no evidence for linkage disequilibrium or mutation in American caucasian neural tube defect families. In: American Journal of Medical Genetics. 2002 ; Vol. 110, No. 3. pp. 215-218.
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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.",
author = "Speer, {Marcy C.} and Melvin, {Elizabeth C.} and Viles, {Kristi D.} and Bauer, {Kim A.} and Evadnie Rampersaud and Courtney Drake and George, {Timothy M.} and Enterline, {David S.} and Mackey, {Joanne F.} and Gordon Worley and Gilbert, {John R.} and Nye, {Jeffery S.} and Joanna Aben and Arthur Aylsworth and Cynthia Powell and Timothy Brei and Connie Buran and Joann Bodurtha and Kathleen Sawin and Mark Dias and Bennans Iskandar and Bonnie Ohm and Nicole Lasarsky and David McLone and Joy Ito and Oakes, {W. Jerry} and Marion Walker and Paula Peterson",
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Speer, MC, Melvin, EC, Viles, KD, Bauer, KA, Rampersaud, E, Drake, C, George, TM, Enterline, DS, Mackey, JF, Worley, G, Gilbert, JR, Nye, JS, Aben, J, Aylsworth, A, Powell, C, Brei, T, Buran, C, Bodurtha, J, Sawin, K, Dias, M, Iskandar, B, Ohm, B, Lasarsky, N, McLone, D, Ito, J, Oakes, WJ, Walker, M & 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, vol. 110, no. 3, pp. 215-218. https://doi.org/10.1002/ajmg.10436

T locus shows no evidence for linkage disequilibrium or mutation in American caucasian neural tube defect families. / Speer, Marcy C.; Melvin, Elizabeth C.; Viles, Kristi D.; Bauer, Kim A.; Rampersaud, Evadnie; Drake, Courtney; George, Timothy M.; Enterline, David S.; Mackey, Joanne F.; Worley, Gordon; Gilbert, John R.; Nye, Jeffery S.; Aben, Joanna; Aylsworth, Arthur; Powell, Cynthia; Brei, Timothy; Buran, Connie; Bodurtha, Joann; Sawin, Kathleen; Dias, Mark; Iskandar, Bennans; Ohm, Bonnie; Lasarsky, Nicole; McLone, David; Ito, Joy; Oakes, W. Jerry; Walker, Marion; Peterson, Paula.

In: American Journal of Medical Genetics, Vol. 110, No. 3, 01.07.2002, p. 215-218.

Research output: Contribution to journalArticle

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T1 - T locus shows no evidence for linkage disequilibrium or mutation in American caucasian neural tube defect families

AU - Speer, Marcy C.

AU - Melvin, Elizabeth C.

AU - Viles, Kristi D.

AU - Bauer, Kim A.

AU - Rampersaud, Evadnie

AU - Drake, Courtney

AU - George, Timothy M.

AU - Enterline, David S.

AU - Mackey, Joanne F.

AU - Worley, Gordon

AU - Gilbert, John R.

AU - Nye, Jeffery S.

AU - Aben, Joanna

AU - Aylsworth, Arthur

AU - Powell, Cynthia

AU - Brei, Timothy

AU - Buran, Connie

AU - Bodurtha, Joann

AU - Sawin, Kathleen

AU - Dias, Mark

AU - Iskandar, Bennans

AU - Ohm, Bonnie

AU - Lasarsky, Nicole

AU - McLone, David

AU - Ito, Joy

AU - Oakes, W. Jerry

AU - Walker, Marion

AU - Peterson, Paula

PY - 2002/7/1

Y1 - 2002/7/1

N2 - 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.

AB - 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.

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