title: The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.
abstract: 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.
authors.affiliation: Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: J E
authors.initials: JE
authors.lastname: Hoogendijk
authors.forename: G W
authors.initials: GW
authors.lastname: Hensels
authors.forename: I
authors.initials: I
authors.lastname: Zorn
authors.forename: L
authors.initials: L
authors.lastname: Valentijn
authors.forename: E A
authors.initials: EA
authors.lastname: Janssen
authors.forename: M
authors.initials: M
authors.lastname: de Visser
authors.forename: D F
authors.initials: DF
authors.lastname: Barker
authors.forename: B W
authors.initials: BW
authors.lastname: Ongerboer de Visser
authors.forename: F
authors.initials: F
authors.lastname: Baas
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
mesh_terms: D015139:Blotting, Southern; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D016521:Electrophoresis, Gel, Pulsed-Field; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D005810:Multigene Family / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific