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Identification and characterization of the familial adenomatous polyposis coli gene.

Cell | Aug 9, 1991

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.

Pubmed ID: 1651174 RIS Download

Mesh terms: Adenomatous Polyposis Coli | Amino Acid Sequence | Base Sequence | Chromosome Deletion | DNA | Exons | Genes | Humans | Molecular Sequence Data | Mutation | Oligonucleotides | Pedigree | Polymerase Chain Reaction | Polymorphism, Genetic | Restriction Mapping

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Associated grants

  • Agency: NCI NIH HHS, Id: 5T32 CA09602
  • Agency: NHGRI NIH HHS, Id: HG-00320
  • Agency: NIGMS NIH HHS, Id: R01-GM40886-03

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