Literature DB >> 1674726

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

J M Vance1, D Barker, L H Yamaoka, J M Stajich, L Loprest, W Y Hung, K Fischbeck, A D Roses, M A Pericak-Vance.   

Abstract

Charcot-Marie-Tooth (CMT) disease type 1a has been previously localized to chromosome 17 using the markers D17S58 and D17S71. In that report we were unable to provide unequivocal localization of the CMT1A gene on either the proximal p or the q arm. Therefore, data from one additional CMT1A family and typing of other probes spanning the pericentromeric region of chromosome 17 (D17S73, D17S58, D17S122, D17S125, D17S124) were analyzed. Multipoint analysis demonstrates convincing evidence (log likelihood difference greater than 5) that the CMT1A gene lies within 17p11.2 and most likely between the flanking markers D17S122 and D17S124.

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Year:  1991        PMID： 1674726     DOI： 10.1016/0888-7543(91)90355-i

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  14 in total

1.  Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage.

Authors:  M A Pericak-Vance; J L Bebout; P C Gaskell; L H Yamaoka; W Y Hung; M J Alberts; A P Walker; R J Bartlett; C A Haynes; K A Welsh
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

2.  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

3.  Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B.

Authors:  J M Vance; M C Speer; J M Stajich; S West; C Wolpert; P Gaskell; F Lennon; R M Tim; M Rozear; K B Othmane
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.

Authors:  I P Blair; J Nash; M J Gordon; G A Nicholson
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

5.  Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a).

Authors:  C M Gabriel; N A Gregson; N W Wood; R A C Hughes
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-02       Impact factor: 10.154

6.  Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

Authors:  P Raeymaekers; V Timmerman; E Nelis; W Van Hul; P De Jonghe; J J Martin; C Van Broeckhoven
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

7.  Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Authors:  C A Wise; C A Garcia; S N Davis; Z Heju; L Pentao; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

Review 8.  Mouse homologues of human hereditary disease.

Authors:  A G Searle; J H Edwards; J G Hall
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

9.  Regional localization of rat peripheral myelin protein 22 (Pmp22) gene to chromosome 10q22 by FISH.

Authors:  T Liehr; B Rautenstrauss
Journal:  Mamm Genome       Date:  1995-07       Impact factor: 2.957

10.  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
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