New mutations in the APC gene in familial adenomatous polyposis: detection, characterization, and analysis

Bull Exp Biol Med. 2005 Mar;139(3):352-4. doi: 10.1007/s10517-005-0292-4.
[Article in English, Russian]

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.

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Base Sequence
  • Codon, Terminator
  • DNA Mutational Analysis
  • Genes, APC*
  • Humans
  • Introns
  • Mutation*
  • Mutation, Missense
  • Polymerase Chain Reaction
  • Sequence Deletion

Substances

  • Codon, Terminator