Literature DB >> 1683643

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region.

R V Lebo1, P F Chance, P J Dyck, M T Redila-Flores, E D Lynch, M S Golbus, T D Bird, M C King, L A Anderson, J Hall.   

Abstract

The Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy) loci have been reported to be on at least three chromosomes: 1 (CMT1B, HMSN1B), 17 (CMT1A), and X (CMTX). In this study multipoint linkage analysis of two Duffy-linked families given a combined LOD score of 8.65 to establish that the Duffy-linked CMT1B gene exists in the 18 centimorgan region between the antithrombin III gene and the Duffy/sodium-potassium ATPase loci. The simultaneous segregation of polymorphisms near the CMT1A locus on chromosome 17 excludes linkage to this chromosome region in both families. Polymorphic sites that flank the CMT1B gene have been subchromosomally localized to the proximal chromosome-1 long arm (1q21.2----1q25) by spot blot analysis of sorted chromosomes, polymorphic deletion analysis, in situ hybridization, and multipoint linkage analysis.

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Year:  1991        PMID： 1683643     DOI： 10.1007/bf00204921

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


  39 in total

1.  Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.

Authors:  P I Patel; B Franco; C Garcia; S A Slaugenhaupt; Y Nakamura; D H Ledbetter; A Chakravarti; J R Lupski
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

2.  Tissue-specific and developmental regulation of rat Na,K-ATPase catalytic alpha isoform and beta subunit mRNAs.

Authors:  J Orlowski; J B Lingrel
Journal:  J Biol Chem       Date:  1988-07-25       Impact factor: 5.157

3.  The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1.

Authors:  P Raeymaekers; C Van Broeckhoven; H Backhovens; A Wehnert; L Muylle; P De Jonghe; J Gheuens; A Vandenberghe
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

4.  Twenty-eight loci form a continuous linkage map of markers for human chromosome 1.

Authors:  P O'Connell; G M Lathrop; Y Nakamura; M L Leppert; R H Ardinger; J L Murray; J M Lalouel; R White
Journal:  Genomics       Date:  1989-01       Impact factor: 5.736

5.  The polymorphic Fc gamma receptor II gene maps to human chromosome 1q.

Authors:  H O Grundy; G Peltz; K W Moore; M S Golbus; L G Jackson; R V Lebo
Journal:  Immunogenetics       Date:  1989       Impact factor: 2.846

6.  NIH Conference: Immunoglobulin G Fc receptor-mediated clearance in autoimmune diseases.

Authors:  M M Frank; T J Lawley; M I Hamburger; E J Brown
Journal:  Ann Intern Med       Date:  1983-02       Impact factor: 25.391

7.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

8.  Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations.

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

9.  Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13.

Authors:  J Beckett; J J Holden; N E Simpson; B N White; P M MacLeod
Journal:  J Neurogenet       Date:  1986-07       Impact factor: 1.250

10.  Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).

Authors:  T D Bird; J Ott; E R Giblett; P F Chance; S M Sumi; G H Kraft
Journal:  Ann Neurol       Date:  1983-12       Impact factor: 10.422
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  8 in total

1.  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

2.  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

3.  Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.

Authors:  Y Su; D G Brooks; L Li; J Lepercq; J A Trofatter; J V Ravetch; R V Lebo
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-15       Impact factor: 11.205

4.  Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy? Diagnostic value of morphological criteria.

Authors:  A A Gabreëls-Festen; F J Gabreëls; J E Hoogendijk; P A Bolhuis; P J Jongen; H M Vingerhoets
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

5.  Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.

Authors:  F P Thomas; R V Lebo; G Rosoklija; X S Ding; R E Lovelace; N Latov; A P Hays
Journal:  Acta Neuropathol       Date:  1994       Impact factor: 17.088

6.  Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

Authors:  E Nelis; V Timmerman; P De Jonghe; L Muylle; J J Martin; C Van Broeckhoven
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

7.  Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I).

Authors:  L Leonardis; J Zidar; J Trontelj; B Peterlin
Journal:  Pflugers Arch       Date:  1996       Impact factor: 3.657

Review 8.  The 2-5A system: modulation of viral and cellular processes through acceleration of RNA degradation.

Authors:  M R Player; P F Torrence
Journal:  Pharmacol Ther       Date:  1998-05       Impact factor: 12.310
  8 in total

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