Single-cell PCR performed with neurofibroma Schwann cells reveals the presence of both alleles of the neurofibromatosis type 1 (NF1) gene

Hum Genet. 1995 Nov;96(5):619-23. doi: 10.1007/BF00197423.

Abstract

It is commonly held that Schwann cells (SC) are the progenitor cells of benign neurofibromas. To test for loss of heterozygosity (LOH) at the neurofibromatosis 1 (NF1) gene locus, three intragenic polymorphic markers were analyzed after polymerase chain reaction amplification, starting from 98 single SC isolated from primary cultures of neurofibromas, of five informative NF1 patients. The patterns obtained did not provide evidence for LOH at the NF1 gene. LOH by nondisjunction, large deletions, or somatic recombination in SC seems not to be the mechanism of generation of neurofibromas.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • Female
  • Genes, Neurofibromatosis 1 / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Neurofibroma / genetics*
  • Neurofibromatosis 1 / genetics*
  • Polymerase Chain Reaction
  • Repetitive Sequences, Nucleic Acid
  • Schwann Cells / chemistry*
  • Skin Neoplasms / genetics*