Inventors:
Weilong Gong - Philadelphia PA
Beverly S. Emanuel - Broomall PA
Marcia L. Budarf - Moylan PA
Bruce Roe - Norman OK
Assignee:
Children's Hospital of Philadelphia - Philadelphia PA
University of Oklahoma - Norman OK
International Classification:
C07H 2104
C12N 1512
C12P 1934
C12Q 168
Abstract:
Transcription units encoded in the minimal DGS/VCFS critical region, primer pairs effective for amplifying said transcripts in a genomic DNA sample for the preparation of probes for detecting genetic deletions/mutations in the minimal DGS/VCFS critical region, and kits containing the probes are disclosed. One or more of said transcription units is implicated for the abnormalities associated with DGS/VCFS.