DIAGNOSIS METHOD AND REAGENTS

摘要

The invention relates to methods and reagents for the diagnosis and treatment of a disease caused by or associated with an RNA molecule having a transcript mutation giving rise to a frameshift mutation. The diagnostic methods include the steps of providing a body fluid or tissue sample from a patient; and analyzing the sample for the presence of an RNA molecule having a frameshift mutation or a protein encoded thereby, wherein the presence of the mutated RNA molecule or encoded protein is indicative of the disease. The therapeutic treatments include administering substances which selectively eliminate mutate RNA molecule from the cell.