T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families.
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.
Speer, MC; Melvin, EC; Viles, KD; Bauer, KA; Rampersaud, E; Drake, C; George, TM; Enterline, DS; Mackey, JF; Worley, G; Gilbert, JR; Nye, JS; NTD Collaborative Group. Neural Tube Defects,
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