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

Marina De Rosa, Maria I. Scarano, Luigi Panariello, Nicola Carlomagno, Giovanni B. Rossi, Alfonso Tempesta, Patrizia Borgheresi, Andrea Renda, Paola Izzo

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)695-703
Number of pages9
JournalEuropean Journal of Human Genetics
Volume7
Issue number6
DOIs
Publication statusPublished - 1999

Keywords

  • Adenomatous polyposis coli gene mutations
  • Familial adenomatous polyposis
  • Hereditary colorectal cancer

ASJC Scopus subject areas

  • Genetics(clinical)

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