ASSOCIATION OF TGF-ALPHA WITH NONSYNDROMIC CLEFT LIP/PALATE
- Clark Stanford(PI),
- Kirk Baumgardner(PI),
- Andrew Lidral(PI),
- Cynthia Kleinegger(PI),
- Steven Amstrong(PI),
- Paul Tompach(PI)
- UNIVERSITY OF IOWA,
- UNIVERSITY OF IOWA,
- UNIVERSITY OF IOWA,
- UNIVERSITY OF IOWA,
- UNIVERSITY OF IOWA,
- UNIVERSITY OF IOWA
Grant:
Research project
Project status
Finished
About the Project
Nonsyndromic Cleft Lip or Cleft Palate.
Previous studies have shown an association of the transforming growth
factor-alpha (TGFA) locus with non-syndromic cleft lip with or without cleft
palate. To further characterize this association, we have continued to look
for mutations in the gene. We have identified four polymorphisms that are
in the 3' untranslated region of the mRNA. One of the polymorphisms was
found to be in a weak association with non-syndromic cleft lip with or
without cleft palate. The same polymorphism was found to be in association
with nonsyndromic, isolated cleft palate. Currently, experiments are being
performed to determine if the associated allele is transcribed at the same
level as the other alleles. In addition, we are undertaking efforts to
expand our search for mutations by sequencing further into the promotor and
also all of the exon/intron boundaries. This will allow for mutation
detection in our population of patients using our current techniques of SSCP
and DGGE.
Project Information
Project Type
Research project