Genes mapping in the digeorge and velocardiofacial syndrome minimal critical region

US5935783A · kind A · utility

Assignees

• THE CHILDREN'S HOSPITAL OF PHILADELPHIA · US
• The Regents of the University of Oklahoma · US

Inventors

• Weilong Gong · Philadelphia, US
• Beverly S. Emanuel · Broomall, US
• Marcia L. Budarf · Moylan, US
• Bruce Roe · Aurora, US

Key dates

• Filing date: Dec 27, 1996
• Grant date: Aug 10, 1999
• Expiry date: Dec 27, 2016

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q2600/158
• WIPO field: Biotechnology
• WIPO sector: Chemistry

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.