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

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

Research output: Contribution to journal › Article › Academic › peer-review

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)	215-8
Number of pages	4
Journal	Human Genetics
Volume	88
Issue number	2
Publication status	Published - Dec 1991

Keywords

Blotting, Southern
Charcot-Marie-Tooth Disease
Chromosomes, Human, Pair 17
Deoxyribonuclease HpaII
Deoxyribonucleases, Type II Site-Specific
Electrophoresis, Gel, Pulsed-Field
Female
Genetic Linkage
Genetic Markers
Humans
Male
Multigene Family
Journal Article
Research Support, Non-U.S. Gov't

Cite this

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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.",

keywords = "Blotting, Southern, Charcot-Marie-Tooth Disease, Chromosomes, Human, Pair 17, Deoxyribonuclease HpaII, Deoxyribonucleases, Type II Site-Specific, Electrophoresis, Gel, Pulsed-Field, Female, Genetic Linkage, Genetic Markers, Humans, Male, Multigene Family, Journal Article, Research Support, Non-U.S. Gov't",

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",

month = dec,

language = "English",

volume = "88",

pages = "215--8",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Science and Business Media Deutschland GmbH",

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 - 1991/12

Y1 - 1991/12

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.

KW - Blotting, Southern

KW - Charcot-Marie-Tooth Disease

KW - Chromosomes, Human, Pair 17

KW - Deoxyribonuclease HpaII

KW - Deoxyribonucleases, Type II Site-Specific

KW - Electrophoresis, Gel, Pulsed-Field

KW - Female

KW - Genetic Linkage

KW - Genetic Markers

KW - Humans

KW - Male

KW - Multigene Family

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

M3 - Article

C2 - 1721895

SN - 0340-6717

VL - 88

SP - 215

EP - 218

JO - Human Genetics

JF - Human Genetics

IS - 2

ER -

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

Abstract

Keywords

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