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

J. E. Hoogendijk; G. W. Hensels; I. Zorn; L. Valentijn; E. A. Janssen; M. de Visser; D. F. Barker; B. W. Ongerboer de Visser; F. Baas; P. A. Bolhuis

doi:https://doi.org/10.1007/BF00206075

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

J. E. Hoogendijk, G. W. Hensels, I. Zorn, L. Valentijn, E. A. Janssen, M. de Visser, D. F. Barker, B. W. Ongerboer de Visser, F. Baas, P. A. Bolhuis

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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

Original language	English
Pages (from-to)	215-218
Journal	Human genetics
Volume	88
Issue number	2
DOIs	https://doi.org/10.1007/BF00206075
Publication status	Published - 1991

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https://doi.org/10.1007/BF00206075

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@article{814cf8b0491246d4a360d6f3a32fc141,

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",

author = "Hoogendijk, {J. E.} and Hensels, {G. W.} and I. Zorn and L. Valentijn and Janssen, {E. A.} and {de Visser}, M. and Barker, {D. F.} and {Ongerboer de Visser}, {B. W.} and F. Baas and Bolhuis, {P. A.}",

year = "1991",

doi = "https://doi.org/10.1007/BF00206075",

language = "English",

volume = "88",

pages = "215--218",

journal = "Human genetics",

issn = "0340-6717",

publisher = "Springer Verlag",

number = "2",

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TY - JOUR

T1 - The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2

AU - Hoogendijk, J. E.

AU - Hensels, G. W.

AU - Zorn, I.

AU - Valentijn, L.

AU - Janssen, E. A.

AU - de Visser, M.

AU - Barker, D. F.

AU - Ongerboer de Visser, B. W.

AU - Baas, F.

AU - Bolhuis, P. A.

PY - 1991

Y1 - 1991

N2 - 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

AB - 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

U2 - https://doi.org/10.1007/BF00206075

DO - https://doi.org/10.1007/BF00206075

M3 - Article

C2 - 1721895

SN - 0340-6717

VL - 88

SP - 215

EP - 218

JO - Human genetics

JF - Human genetics

IS - 2

ER -