A Tsp509I variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level

Hum Genet. 1995 Jul;96(1):131-2. doi: 10.1007/BF00214202.


We describe here a new sequence variant occurring in the coding region of the neurofibromatosis (NF1) gene (exon 13). This exonic polymorphism can be directly investigated by simple restriction enzyme digestion of RT-PCR (reverse transcription-polymerase chain reaction) products, making it a powerful tool for examining allele-specific mRNA expression levels.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Base Sequence
  • Exons / genetics*
  • Humans
  • Molecular Sequence Data
  • Neurofibromatosis 1 / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • RNA, Messenger / genetics*
  • RNA, Neoplasm / genetics


  • RNA, Messenger
  • RNA, Neoplasm