The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2 |
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| Authors: | 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 |
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| Affiliation: | (1) Department of Neurology, Academic Medical Center, Meibergdreef 9, NL-1105 AZ Amsterdam, The Netherlands;(2) Department of Medical Informatics, University of Utah School of Medicine, 84108 Salt Lake City, UT, USA |
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| Abstract: | 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. |
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