Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

Science. 1987 May 29;236(4805):1100-2. doi: 10.1126/science.3107130.

Abstract

Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis (NF) is located near the centromere on chromosome 17. The families also gave no evidence for heterogeneity, indicating that a significant proportion of NF cases are due to mutations at a single locus. Further genetic analysis can now refine this localization and may lead to the eventual identification and cloning of the defective gene responsible for this disorder.

Publication types

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

MeSH terms

  • Centromere
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17* / ultrastructure
  • DNA, Recombinant
  • Female
  • Genes*
  • Genetic Linkage
  • Humans
  • Male
  • Neurofibromatosis 1 / genetics*
  • Nucleic Acid Hybridization

Substances

  • DNA, Recombinant