Human Genetics

, Volume 88, Issue 2, pp 215–218

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

  • Jessica E. Hoogendijk
  • Gerard W. Hensels
  • Ina Zorn
  • Linda Valentijn
  • Emiel A. M. Janssen
  • Marianne de Visser
  • David F. Barker
  • Bram W. Ongerboer de Visser
  • Frank Baas
  • Pieter A. Bolhuis
Original Investigations

DOI: 10.1007/BF00206075

Cite this article as:
Hoogendijk, J.E., Hensels, G.W., Zorn, I. et al. Hum Genet (1991) 88: 215. doi:10.1007/BF00206075

Summary

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.

Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • Jessica E. Hoogendijk
    • 1
  • Gerard W. Hensels
    • 1
  • Ina Zorn
    • 1
  • Linda Valentijn
    • 1
  • Emiel A. M. Janssen
    • 1
  • Marianne de Visser
    • 1
  • David F. Barker
    • 2
  • Bram W. Ongerboer de Visser
    • 1
  • Frank Baas
    • 1
  • Pieter A. Bolhuis
    • 1
  1. 1.Department of NeurologyAcademic Medical CenterAZ AmsterdamThe Netherlands
  2. 2.Department of Medical InformaticsUniversity of Utah School of MedicineSalt Lake CityUSA

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