Literature DB >> 3462379

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

J Beckett, J J Holden, N E Simpson, B N White, P M MacLeod.   

Abstract

A family is described in which Charcot-Marie-Tooth disease is inherited as an X-linked dominant mutation (CMT2). Ten DNA marker loci on the X chromosome were used to map the disease locus by linkage analysis. The DXYS1 sequence at Xq13 was found to be linked to the CMT2 locus at an estimated distance of 6 cM (Zmax = 2.87 at theta max = 0.06). The data also suggested close linkage of the CMT2 locus to PGK1 (Zmax = 1.51 at theta max = 0) which has also been mapped to Xq13. Another DNA locus (DXS3), in the Xq21.3----Xq22 region, did not show close linkage (Zmax = -2.231 at theta max = 0.01). We conclude that the CMT2 locus is probably in or close to band Xq13.

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Year:  1986        PMID： 3462379     DOI： 10.3109/01677068609106852

Source DB:  PubMed          Journal:  J Neurogenet        ISSN： 0167-7063            Impact factor:   1.250


  12 in total

1.  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

2.  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

3.  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

4.  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

5.  A DNA marker closely linked to the factor IX (haemophilia B) gene.

Authors:  L Mulligan; J J Holden; B N White
Journal:  Hum Genet       Date:  1987-04       Impact factor: 4.132

Review 6.  Molecular genetics of X-linked Charcot-Marie-Tooth disease.

Authors:  Kleopas A Kleopa; Steven S Scherer
Journal:  Neuromolecular Med       Date:  2006       Impact factor: 3.843

7.  Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

Authors:  V V Ionasescu; J Trofatter; J L Haines; A M Summers; R Ionasescu; C Searby
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

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

Review 9.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

10.  Linkage localization of X-linked Charcot-Marie-Tooth disease.

Authors:  J Bergoffen; J Trofatter; M A Pericak-Vance; J L Haines; P F Chance; K H Fischbeck
Journal:  Am J Hum Genet       Date:  1993-02       Impact factor: 11.025
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