Literature DB >> 1721895

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

J E Hoogendijk1, 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.   

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.

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Year:  1991        PMID： 1721895     DOI： 10.1007/bf00206075

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 in total

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Authors:  E C Wright; D E Goldgar; P R Fain; D F Barker; M H Skolnick
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Authors:  G Chu; D Vollrath; R W Davis
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4.  Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17.

Authors:  J C Defesche; J E Hoogendijk; M de Visser; O de Visser; P A Bolhuis
Journal:  Neurology       Date:  1990-09       Impact factor: 9.910

5.  DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

Authors:  J R Lupski; R M de Oca-Luna; S Slaugenhaupt; L Pentao; V Guzzetta; B J Trask; O Saucedo-Cardenas; D F Barker; J M Killian; C A Garcia; A Chakravarti; P I Patel
Journal:  Cell       Date:  1991-07-26       Impact factor: 41.582

6.  Separation of chromosomal DNA molecules from yeast by orthogonal-field-alternation gel electrophoresis.

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Authors:  D Barker; E Wright; K Nguyen; L Cannon; P Fain; D Goldgar; D T Bishop; J Carey; B Baty; J Kivlin
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8.  Prevalence of hereditary motor and sensory neuropathy in Cantabria.

Authors:  O Combarros; J Calleja; J M Polo; J Berciano
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9.  Multipoint linkage analysis in neurofibromatosis type I: an international collaboration.

Authors:  D E Goldgar; P Green; D M Parry; J J Mulvihill
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  6 in total

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Authors:  C M Gabriel; N A Gregson; N W Wood; R A C Hughes
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2.  Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Authors:  A Brice; N Ravisé; G Stevanin; M Gugenheim; P Bouche; C Penet; Y Agid
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

3.  Inheritance of CMT1A duplication from a mosaic father.

Authors:  E Sorour; P Thompson; J MacMillan; M Upadhyaya
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

4.  Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis.

Authors:  C Cudrey; C Chevillard; D Le Paslier; A Vignal; E Passage; M Fontes
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

5.  Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

Authors:  M Upadhyaya; S H Roberts; J Farnham; J C MacMillan; A Clarke; J P Heath; I C Hodges; P S Harper
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6.  Preimplantation genetic diagnosis for Charcot-Marie-Tooth disease.

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  6 in total

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