Patent ID: 8669062
Filing Date: 2014-03-11
Classification: C12Q,G01N

Abstract:
1. A method of detecting a truncating mutation in a gene, comprising: dividing a test sample of alleles of the gene isolated from a patient, to form a plurality of aliquots of alleles of the gene, wherein said aliquots comprise on average between 0 and 20 alleles prior to amplification wherein the gene is selected from the group consisting of: Merlin, CF, hMSH2, APC, hMLH1, hPMS2, and VHL; amplifying said alleles in said plurality of aliquots to form amplified alleles; transcribing and translating proteins in vitro using said amplified alleles as transcription templates; determining size or composition of said proteins, wherein proteins which differ in size or composition from the protein produced by a wild-type allele of the gene indicate a truncating mutation in an amplified allele of the gene in the patient.