The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Mar. 02, 1999
Filed:
Jun. 02, 1997
Joanna L Groden, Cincinnati, OH (US);
Raymond L White, Salt Lake City, UT (US);
Lisa Spirio, Salt Lake City, UT (US);
Margaret Robertson, Salt Lake City, UT (US);
Robert Weiss, Salt Lake City, UT (US);
Therese Tuohy, Cincinnati, OH (US);
University of Utah Research Foundation, Salt Lake City, UT (US);
Abstract
The present invention relates to a functional screen assay for nonsense or frameshift mutations that allows genes of interest to be scanned. This assay is based on the cloning of segments of the gene of interest in-frame with a sequence coding for a marker followed by screening for the level of expression of the marker. Individuals at risk for any one of a number of genetic diseases, which are associated with such nonsense or frameshift mutations, can be quickly screened for chain-terminating mutations introduced by these nonsense and frameshift mutations. At present, scanning of many genes for mutations requires significant effort because the genes are large and most mutations are unique. Therefore, this assay offers a powerful option for the diagnosis of many genetic diseases.