X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq

Hum Genet. 1985;70(1):38-42. doi: 10.1007/BF00389456.


A large kindred with the X-linked dominant form of peroneal muscular atrophy (Charcot-Marie-Tooth disease) was analyzed for individual variation in the length of DNA fragments after restriction endonuclease digestion. A systematic search was performed for linkage with a series of cloned single-copy DNA sequences of known regional assignment to the human X chromosome. Close linkage was found with the pDP34 probe (DXYS1 locus, Xq13-q21), suggesting that the gene responsible for the disease is located on the proximal long arm of the X chromosome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Mapping
  • DNA / genetics*
  • DNA Restriction Enzymes
  • Female
  • Genes, Dominant*
  • Genetic Linkage*
  • Genetic Variation
  • Humans
  • Male
  • Muscular Atrophy / genetics*
  • Nucleic Acid Hybridization
  • Pedigree
  • Polymorphism, Genetic
  • X Chromosome*


  • DNA
  • DNA Restriction Enzymes