title: Identification and characterization of the familial adenomatous polyposis coli gene.
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.
authors.affiliation: Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84132.
authors.forename: J
authors.initials: J
authors.lastname: Groden
authors.forename: A
authors.initials: A
authors.lastname: Thliveris
authors.forename: W
authors.initials: W
authors.lastname: Samowitz
authors.forename: M
authors.initials: M
authors.lastname: Carlson
authors.forename: L
authors.initials: L
authors.lastname: Gelbert
authors.forename: H
authors.initials: H
authors.lastname: Albertsen
authors.forename: G
authors.initials: G
authors.lastname: Joslyn
authors.forename: J
authors.initials: J
authors.lastname: Stevens
authors.forename: L
authors.initials: L
authors.lastname: Spirio
authors.forename: M
authors.initials: M
authors.lastname: Robertson
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D005091:Exons; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009841:Oligonucleotides / Q000737:chemistry; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D015183:Restriction Mapping
chemical_list: D009841:Oligonucleotides; D004247:DNA