T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families
✍ Scribed by 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. ;,
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 52 KB
- Volume
- 110
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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. © 2002 Wiley‐Liss, Inc.