A rapid screening method to detect nonsense and frameshift mutations: Identification of disease-causing APC alleles

Liliana Varesco, Joanna Groden, Lisa Spirio, Margaret Robertson, Robert Weiss, Viviana Gismondi, G. B. Ferrara, Ray White

Research output: Contribution to journalArticlepeer-review

Abstract

A functional screen for nonsense and frameshift mutations has been devised that allows genes of interest to be scanned in segments. This assay is based on the cloning of these segments in-frame with a colorimetric marker gene (lacZ) followed by screening for the level of functional activity from the marker polypeptide (β-galactosidase). Individuals at risk for any one of a number of genetic diseases, in particular familial adenomatous polyposis coli (APC), can be quickly screened for chain-terminating mutations introduced by stops and frameshifts. At present, scanning of the APC gene for mutation requires significant effort because it is a large gene and most APC mutations are unique. Therefore, this assay offers a powerful option for the diagnosis of this and other genetic diseases, as well as great potential for the development of a similar rapid screen to detect APC mutations in colorectal adenomas and carcinomas.

Original languageEnglish
Pages (from-to)5581-5584
Number of pages4
JournalCancer Research
Volume53
Issue number23
Publication statusPublished - Dec 1 1993

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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