University of Utah Research Foundation

Therese Tuohy

Raymond L White

Lisa Spirio

Robert Weiss

Margaret Robertson

Joanna L Groden

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.

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Cincinnati, OH, United States of America

Therese Tuohy