Genomic organization of the neurofibromatosis 1 gene (NF1)

Genomics. 1995 Jan 1;25(1):9-18. doi: 10.1016/0888-7543(95)80104-t.


Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated. The 5' end of NF1 is embedded in a CpG island containing a NotI restriction site, and the remainder of the gene lies in the adjacent 350-kb NotI fragment. In our efforts to develop a comprehensive screen for NF1 mutations, we have isolated genomic DNA clones that together harbor the entire NF1 cDNA sequence. We have identified all intron-exon boundaries of the coding region and established that it is composed of 59 exons. Furthermore, we have defined the 3'-untranslated region (3'-UTR) of the NF1 gene; it spans approximately 3.5 kb of genomic DNA sequence and is continuous with the stop codon. Oligonucleotide primer pairs synthesized from exon-flanking DNA sequences were used in the polymerase chain reaction with cloned, chromosome 17-specific genomic DNA as template to amplify NF1 exons 1 through 27b and the exon containing the 3'-UTR separately. This information should be useful for implementing a comprehensive NF1 mutation screen using genomic DNA as template.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17*
  • DNA / genetics
  • DNA / isolation & purification
  • DNA Primers
  • Exons
  • Genes, Neurofibromatosis 1*
  • Humans
  • Introns
  • Molecular Sequence Data
  • Neurofibromin 1
  • Oligonucleotide Probes
  • Polymerase Chain Reaction
  • Protein Biosynthesis
  • Proteins / genetics*
  • Restriction Mapping


  • DNA Primers
  • Neurofibromin 1
  • Oligonucleotide Probes
  • Proteins
  • DNA

Associated data

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  • GENBANK/U17685
  • GENBANK/U17686