title: New mutations in the APC gene in familial adenomatous polyposis: detection, characterization, and analysis.
abstract: The spectrum of mutations in the APC gene in familial adenomatous polyposis was detected in a sampling from the Russian population. Fifteen new mutations were found. Deletions associated with the loss of only 1 or 2 nucleotides (89% cases) prevailed among new (unique) mutations, while all known deletions were caused by the loss of 4 or 5 nucleotides. The detected differences in the deletion characteristics between unique and repeated mutations in the APC gene were typical of samples of patients from a number of populations. Samplings from different populations were heterogeneous by this sign. The incidence of 1-2-nucleotide deletions among unique and repeated deletions in the APC gene in patient samplings from different countries were in negative correlation.
authors: Medical Genetic Research Center, Russian Academy of Medical Sciences, Moscow.
authors: T A
authors: TA
authors: Muzaffarova
authors: N I
authors: NI
authors: Pospekhova
authors: I Yu
authors: IY
authors: Sachkov
authors: A M
authors: AM
authors: Kuz'minov
authors: E K
authors: EK
authors: Ginter
authors: A V
authors: AV
authors: Karpukhin
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D001483:Base Sequence; D018388:Codon, Terminator; D004252:DNA Mutational Analysis; D017491:Genes, APC; D006801:Humans; D007438:Introns; D009154:Mutation; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D018388:Codon, Terminator