The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2

Hum Genet. 1991 Dec;88(2):215-8. doi: 10.1007/BF00206075.


Recently, it has been shown that Charcot-Marie-Tooth disease type 1a (CMT1a) is linked with a duplication of a DNA segment that is detected by probe VAW409R3, and that is located on chromosome 17p11.2. Here, we show that this duplication also contains VAW412R3a, but not A10-41 and EW503. Accounting for the duplication in recombination analysis, we found recombinants between CMT1a and EW301 and EW502, but not with A10-41, VAW409R3, and VAW412R3. Using pulsed-field gel electrophoresis analysis, we estimated the minimal size of the duplicated region in CMT1a patients to be 1100 kb.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosomes, Human, Pair 17*
  • Deoxyribonuclease HpaII
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Electrophoresis, Gel, Pulsed-Field
  • Female
  • Genetic Linkage / genetics*
  • Genetic Markers / genetics
  • Humans
  • Male
  • Multigene Family / genetics*


  • Genetic Markers
  • Deoxyribonuclease HpaII
  • Deoxyribonucleases, Type II Site-Specific