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
Marcy C
MC
Duke University Medical Center, Center for Human Genetics, Durham, North Carolina 27710, USA. marcy@chg.mc.duke.edu
Melvin
Elizabeth C
EC
Viles
Kristi D
KD
Bauer
Kim A
KA
Rampersaud
Evadnie
E
Drake
Courtney
C
George
Timothy M
TM
Enterline
David S
DS
Mackey
Joanne F
JF
Worley
Gordon
G
Gilbert
John R
JR
Nye
Jeffery S
JS
D000483:Alleles; D019943:Amino Acid Substitution; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005326:Fetal Proteins; D005787:Gene Frequency; D006801:Humans; D015810:Linkage Disequilibrium; D009154:Mutation; D009436:Neural Tube Defects / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D020825:T-Box Domain Proteins / Q000235:genetics*; D014481:United States; D044465:White People / Q000235:genetics*; D000098908:Brachyury Protein
D004247:DNA; D005326:Fetal Proteins; D020825:T-Box Domain Proteins; D000098908:Brachyury Protein