Literature DB >> 7783177

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

C Cudrey1, C Chevillard, D Le Paslier, A Vignal, E Passage, M Fontes.   

Abstract

Charcot-Marie-Tooth disease type 1A (CMT1A), the most prevalent form of the peripheral hereditary neuropathies, has been associated with a duplication of a genomic segment of 1.5 Mb, located in 17p11.2. Recently, the same segment has been found to be deleted in patients with another peripheral neuropathy, hereditary neuropathy with liability to pressure palsies (HNPP). Highly polymorphic markers are rare in this area, rendering the diagnosis highly dependent either on invasive examinations (like nerve biopsy) or not totally reliable (like gene dosage). Thus, we used a contig of YACs, including the whole region duplicated in CMT1A, to map highly polymorphic microsatellite loci, designed in Genethon. We showed that four of these loci are located in the duplicated region, allowing us to propose them as diagnostic markers for CMT1A and HNPP.

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Year:  1995        PMID： 7783177      PMCID： PMC1050325          DOI： 10.1136/jmg.32.3.231

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  11 in total

1.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

2.  The 1993-94 Généthon human genetic linkage map.

Authors:  G Gyapay; J Morissette; A Vignal; C Dib; C Fizames; P Millasseau; S Marc; G Bernardi; M Lathrop; J Weissenbach
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

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

Authors:  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
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

4.  Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

Authors:  P J Dyck; E H Lambert
Journal:  Arch Neurol       Date:  1968-06

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.  Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A.

Authors:  L J Valentijn; F Baas; I Zorn; G W Hensels; M de Visser; P A Bolhuis
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

7.  Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome.

Authors:  C Chevillard; D Le Paslier; E Passage; P Ougen; A Billault; S Boyer; S Mazan; J P Bachellerie; A Vignal; D Cohen
Journal:  Hum Mol Genet       Date:  1993-08       Impact factor: 6.150

8.  Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication.

Authors:  V V Ionasescu; R Ionasescu; C Searby; D F Barker
Journal:  Hum Mol Genet       Date:  1993-04       Impact factor: 6.150

9.  DNA deletion associated with hereditary neuropathy with liability to pressure palsies.

Authors:  P F Chance; M K Alderson; K A Leppig; M W Lensch; N Matsunami; B Smith; P D Swanson; S J Odelberg; C M Disteche; T D Bird
Journal:  Cell       Date:  1993-01-15       Impact factor: 41.582

10.  Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.

Authors:  F Palau; A Löfgren; P De Jonghe; S Bort; E Nelis; T Sevilla; J J Martin; J Vilchez; F Prieto; C Van Broeckhoven
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150
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  3 in total

1.  Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

Authors:  J Lopes; E LeGuern; R Gouider; S Tardieu; N Abbas; N Birouk; M Gugenheim; P Bouche; Y Agid; A Brice
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  A comparison of methods for gene dosage analysis in HMSN type 1.

Authors:  J S Rowland; D E Barton; G R Taylor
Journal:  J Med Genet       Date:  2001-02       Impact factor: 6.318

3.  Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).

Authors:  V Timmerman; A Löfgren; E Le Guern; P Liang; P De Jonghe; J J Martin; D Verhalle; W Robberecht; R Gouider; A Brice; C Van Broeckhoven
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132
  3 in total

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