I have continued working to locate mutations in the TGF-alpha pase, which has previously been associated with nonsyndromic cleft lip with or without cleft palate (NSCL+/-CP). We have identified two polymorphisms that are in the 3' untranslated region of the TGF- alpha mRNA. These do not have any apparent biological significance. One of the polymorphisms has been shown to not be associated with NSCL+/-CP, while the other one is still being characterized as to the frequency of the four alleles found in both the case and control population. Work is being continued to locate other polymorphisms by using PCL amplification of TGF-alpha gene fragments and /m/cg for mobility shifts using two techniques that are sensitive to single base-pair changes. These are the single strand information polymorphism technique and the denaturing gradient gel electrophoresis technique. In addition, sequencing of MRNA form patients with various clefts is being done to look for sequence changes.
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