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

摘要: We investigated the T locus as a candidate gene in series of patients and families with lumbosacral myelomeningocele. Single-strand conformation polymorphism (SSCP) analysis was used to identify sequence variation all 8 exons intron 7 this locus. found evidence substantial within locus, previously reported [Papapetrou et al., 1999, J Med Genet 36:208-213], moderately significant linkage disequilibrium CacI exon 8. However, when considered whole, single nucleotide polymorphisms (SNPs) integrated into haplotype, there no for disequilibrium. In addition, we did not any new variants. Thus, conclude that is major human NTDs sample.