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Am J Med Genet. 2002 Jul 1;110(3):215-8.

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

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  • 1Duke University Medical Center, Center for Human Genetics, Durham, North Carolina 27710, USA. marcy@chg.mc.duke.edu


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.

Copyright 2002 Wiley-Liss, Inc.

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