The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.
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.
Hoogendijk
J E
JE
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Hensels
G W
GW
Zorn
I
I
Valentijn
L
L
Janssen
E A
EA
de Visser
M
M
Barker
D F
DF
Ongerboer de Visser
B W
BW
Baas
F
F
Bolhuis
P A
PA
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*
D005819:Genetic Markers; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific