Hoogendijk J E, Hensels G W, Zorn I, Valentijn L, Janssen E A, de Visser M, Barker D F, Ongerboer de Visser B W, Baas F, Bolhuis P A
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
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.
