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

Mol Cell Probes. 1993 Oct;7(5):415-8. doi: 10.1006/mcpr.1993.1061.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15
  • Cricetinae
  • DNA Mutational Analysis
  • Genes, Neurofibromatosis 1*
  • Genetic Testing / methods*
  • Humans
  • Hybrid Cells
  • Molecular Sequence Data
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / genetics
  • Polymerase Chain Reaction
  • Pseudogenes
  • Sequence Homology, Nucleic Acid

Associated data

  • GENBANK/X72619