Identification and Characterization of the Familial Adenomatous Polyposis Coli Gene

Cell. 1991 Aug 9;66(3):589-600. doi: 10.1016/0092-8674(81)90021-0.

Abstract

DNA from 61 unrelated patients with adenomatous polyposis coli (APC) was examined for mutations in three genes (DP1, SRP19, and DP2.5) located within a 100 kb region deleted in two of the patients. The intron-exon boundary sequences were defined for each of these genes, and single-strand conformation polymorphism analysis of exons from DP2.5 identified four mutations specific to APC patients. Each of two aberrant alleles contained a base substitution changing an amino acid to a stop codon in the predicted peptide; the other mutations were small deletions leading to frameshifts. Analysis of DNA from parents of one of these patients showed that his 2 bp deletion is a new mutation; furthermore, the mutation was transmitted to two of his children. These data have established that DP2.5 is the APC gene.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Deletion
  • DNA / genetics
  • Exons
  • Genes*
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Oligonucleotides / chemistry
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Restriction Mapping

Substances

  • Oligonucleotides
  • DNA