T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families |
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Authors: | 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;NTD Collaborative Group Neural Tube Defects |
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Institution: | Duke University Medical Center, Center for Human Genetics, Durham, North Carolina 27710, USA. marcy@chg.mc.duke.edu |
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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. |
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