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 S. Dias; Bennans Iskandar; Bonnie Ohm; Nicole Lasarsky; David McLone; Joy Ito; W. Jerry Oakes; Marion Walker; Paula Peterson

doi:10.1002/ajmg.10436

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 S. DiasBennans Iskandar, Bonnie Ohm, Nicole Lasarsky, David McLone, Joy Ito, W. Jerry Oakes, Marion Walker, Paula Peterson

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21 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 language	English (US)
Pages (from-to)	215-218
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	110
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.10436
State	Published - Jul 1 2002

All Science Journal Classification (ASJC) codes

Genetics(clinical)

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10.1002/ajmg.10436

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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. R., 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

@article{b4dd9461b2d44c9dbbd95e274bd128d3,

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

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 Dias, {Mark S.} 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",

year = "2002",

month = jul,

day = "1",

doi = "10.1002/ajmg.10436",

language = "English (US)",

volume = "110",

pages = "215--218",

journal = "American Journal of Medical Genetics",

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publisher = "Wiley-Liss Inc.",

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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, MS, 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

TY - JOUR

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 S.

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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UR - http://www.scopus.com/inward/citedby.url?scp=0036644019&partnerID=8YFLogxK

U2 - 10.1002/ajmg.10436

DO - 10.1002/ajmg.10436

M3 - Article

C2 - 12116228

AN - SCOPUS:0036644019

SN - 0148-7299

VL - 110

SP - 215

EP - 218

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 3

ER -

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

Abstract

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