Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

Genomics. 1991 Apr;9(4):623-8. doi: 10.1016/0888-7543(91)90355-i.


Charcot-Marie-Tooth (CMT) disease type 1a has been previously localized to chromosome 17 using the markers D17S58 and D17S71. In that report we were unable to provide unequivocal localization of the CMT1A gene on either the proximal p or the q arm. Therefore, data from one additional CMT1A family and typing of other probes spanning the pericentromeric region of chromosome 17 (D17S73, D17S58, D17S122, D17S125, D17S124) were analyzed. Multipoint analysis demonstrates convincing evidence (log likelihood difference greater than 5) that the CMT1A gene lies within 17p11.2 and most likely between the flanking markers D17S122 and D17S124.

Publication types

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

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17*
  • DNA Probes
  • Female
  • Genetic Linkage
  • Humans
  • Lod Score
  • Male
  • Polymorphism, Restriction Fragment Length


  • DNA Probes