Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Hum Genet. 1992 Jan;88(3):279-82. doi: 10.1007/BF00197259.


An interesting feature of neurofibromatosis type 1 (NF1) is its high mutation rate of 1 x 10(-4) per gamete per generation. The molecular basis for frequent NF1 mutation in unknown; the gene is not deletion prone. We have found that in all ten families examined, the apparent new NF1 mutation occurred on the paternally-derived chromosome. The probability of observing this result by chance is less than 0.001 assuming an equal frequency of mutation of paternal and maternal NF1 genes. We hypothesize a role for genomic imprinting that may either enhance mutation of the paternal NF1 gene or confer protection from mutation to the maternal NF1 gene.

MeSH terms

  • Chromosomes, Human*
  • DNA / genetics
  • Female
  • Genes, Neurofibromatosis 1*
  • Genetic Markers
  • Haplotypes
  • Humans
  • Male
  • Mutation*
  • Paternity*
  • Pedigree
  • Polymorphism, Restriction Fragment Length


  • Genetic Markers
  • DNA