Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis

Eur J Hum Genet. 1999 Sep;7(6):695-703. doi: 10.1038/sj.ejhg.5200344.


We describe three unrelated kindreds, affected by familial adenomatous polyposis (FAP), with 5q submicroscopic deletions that encompass the entire adenomatous polyposis coli (APC) gene and the adjacent DP1 gene. In one family the deletion encompasses also the MCC (mutated in colon cancer) gene. Affected members of these families had dysplastic adenomatous polyps and congenital hypertrophy of the retinal pigment epithelium (CHRPE); no individual was affected by mental retardation or facial dysmorphism. The deletions were detected by linkage analysis with several intragenic and closely flanking polymorphic markers and confirmed by a quantitative PCR analysis. This procedure could have an impact on the detection of the molecular defect in FAP patients in whom mutational analysis fails to identify the specific mutation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli Protein
  • Adolescent
  • Adult
  • Cell Cycle Proteins / genetics
  • Child
  • Chromosomes, Human, Pair 5
  • Colonic Neoplasms / genetics
  • Cytoskeletal Proteins / genetics*
  • DNA Mutational Analysis / methods
  • Female
  • Gene Deletion*
  • Genetic Linkage
  • Genotype
  • Haplotypes
  • Humans
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Pedigree
  • Penetrance
  • Polymerase Chain Reaction / methods*
  • Proteins / genetics
  • Transcription Factor DP1
  • Transcription Factors / genetics
  • Tumor Suppressor Proteins*


  • Adenomatous Polyposis Coli Protein
  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • Proteins
  • TFDP1 protein, human
  • Transcription Factor DP1
  • Transcription Factors
  • Tumor Suppressor Proteins
  • MCC protein, human