Literature DB >> 2987105

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

A Gal, J Mücke, H Theile, P F Wieacker, H H Ropers, T F Wienker.   

Abstract

A large kindred with the X-linked dominant form of peroneal muscular atrophy (Charcot-Marie-Tooth disease) was analyzed for individual variation in the length of DNA fragments after restriction endonuclease digestion. A systematic search was performed for linkage with a series of cloned single-copy DNA sequences of known regional assignment to the human X chromosome. Close linkage was found with the pDP34 probe (DXYS1 locus, Xq13-q21), suggesting that the gene responsible for the disease is located on the proximal long arm of the X chromosome.

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Year:  1985        PMID： 2987105     DOI： 10.1007/bf00389456

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


  25 in total

1.  Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography.

Authors:  F Buchthal; F Behse
Journal:  Brain       Date:  1977-03       Impact factor: 13.501

2.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

3.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

4.  Genetic and clinical aspects of Charcot-Marie-Tooth's disease.

Authors:  H Skre
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

5.  A general model for the genetic analysis of pedigree data.

Authors:  R C Elston; J Stewart
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

6.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors:  D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

Review 7.  The application of DNA recombinant technology to the analysis of the human genome and genetic disease.

Authors:  K E Davies
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

8.  Charcot-Marie-Tooth disease with sex-linked inheritance, linkage studies and abnormal serum alkaline phosphatase levels.

Authors:  C J de Weerdt
Journal:  Eur Neurol       Date:  1978       Impact factor: 1.710

9.  Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.

Authors:  P Wieacker; K E Davies; H J Cooke; P L Pearson; R Williamson; S Bhattacharya; J Zimmer; H H Ropers
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

Review 10.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors:  D Botstein; R L White; M Skolnick; R W Davis
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025
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  26 in total

1.  Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).

Authors:  P F Chance; T D Bird; P O'Connell; H Lipe; J M Lalouel; M Leppert
Journal:  Am J Hum Genet       Date:  1990-12       Impact factor: 11.025

2.  Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.

Authors:  A Gal; M Beck; A C Sewell; C P Morris; E Schwinger; J J Hopwood
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

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

Authors:  R V Lebo; 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
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

4.  X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region.

Authors:  M L Mostacciuolo; E Müller; P Fardin; G F Micaglio; B Bardoni; S Guioli; G Camerino; G A Danieli
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

5.  Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.

Authors:  R V Lebo; E D Lynch; T D Bird; M S Golbus; D F Barker; P O'Connell; P F Chance
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

Review 6.  Charcot-Marie-Tooth disease: lessons in genetic mechanisms.

Authors:  J R Lupski
Journal:  Mol Med       Date:  1998-01       Impact factor: 6.354

7.  Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp.

Authors:  A Gal; A Schinzel; U Orth; N A Fraser; F Mollica; I W Craig; T Kruse; M Mächler; M Neugebauer; L M Bleeker-Wagemakers
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

8.  Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy.

Authors:  P R Fain; D F Barker; P F Chance
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

9.  Autosomal recessive and dominant forms of polycystic kidney disease are not allelic.

Authors:  B Wirth; K Zerres; M Fischbach; D Claus; H P Neumann; T Lennert; J Brodehl; M Neugebauer; D E Müller-Wiefel; J Geisert
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

10.  A 45,X male with Y-specific DNA translocated onto chromosome 15.

Authors:  A Gal; B Weber; G Neri; A Serra; U Müller; W Schempp; D C Page
Journal:  Am J Hum Genet       Date:  1987-06       Impact factor: 11.025
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