Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: Implications for the diagnosis and screening of genetic diseases

P. Gasparini, A. Grifa, P. Origone, D. Coviello, R. Antonacci, M. Rocchi

Research output: Contribution to journalArticlepeer-review

Abstract

The neurofibromatosis type I (NF1) gene was extensively screened for mutations using single strand conformation polymorphism (SSCP) technology. During the analysis of the NF1 GAP-related domain, electrophoretically abnormal fragments were detected. Direct sequencing of these fragments allowed us to identify the presence of a NF1 highly homologous sequence (NF1HHS). A detailed analysis of a hybrid panel located this sequence on chromosome 15q24→qter. An accurate search through several data banks demonstrated that this sequence is a new NF1 homologue. This report shows how it is possible to find homologous sequences at random, and subsequently to make wrong interpretations.

Original languageEnglish
Pages (from-to)415-418
Number of pages4
JournalMolecular and Cellular Probes
Volume7
Issue number5
DOIs
Publication statusPublished - 1993

Keywords

  • Homologous sequences
  • Neurofibromatosis type I (NF1)
  • PCR

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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