An AT-Rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening

Raffaele Palmirotta, Maria Laura De Marchis, Giorgia Ludovici, Barbara Leone, Maria Giovanna Valente, Jhessica Alessandroni, Antonella Spila, David Della-Morte, Fiorella Guadagni

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Familial adenomatous polyposis (FAP) is an autosomal-dominant conditionmainly due to amutation of the adenomatous polyposis coli (APC) gene. The present study reports evidence of a technical issue occurring during the mutational analysis of APC exon 4. Genetic conventional direct sequence analysis of a repetitive AT-rich region in the splice acceptor site of APC intron 3 could be misinterpreted as a pathogenetic frameshift result. However, this potential bias may be bypassed adopting a method for random mutagenesis of DNA based on the use of a triphosphate nucleoside analogues mixture. Using this method as a second-level analysis, we also demonstrated the nonpathogenic nature of the variant in the poly A trait in APC exon 4 region (c.423-4delA) that do not result in aberrant splicing of APC exons 3-4; conversely, we did not find a previously reported T deletion/insertion polymorphism.

Original languageEnglish (US)
Pages (from-to)895-898
Number of pages4
JournalHuman mutation
Volume33
Issue number5
DOIs
StatePublished - May 1 2012

Keywords

  • APC
  • Exon 4
  • FAP
  • Random mutagenesis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'An AT-Rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening'. Together they form a unique fingerprint.

  • Cite this

    Palmirotta, R., De Marchis, M. L., Ludovici, G., Leone, B., Valente, M. G., Alessandroni, J., Spila, A., Della-Morte, D., & Guadagni, F. (2012). An AT-Rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening. Human mutation, 33(5), 895-898. https://doi.org/10.1002/humu.22043