Literature DB >> 3024556

X-linked neuropathy: gene localization with DNA probes.

K H Fischbeck, N ar-Rushdi, M Pericak-Vance, M Rozear, A D Roses, J P Fryns.   

Abstract

We used probes for DNA polymorphisms on the X chromosome to study genetic linkage in four families with X-linked neuropathy. Despite clinical variability, all four families showed the same linkage pattern. We found evidence in each family of linkage to the marker DXYS1 on the proximal long arm of the X chromosome, as reported by others. We also found linkage to p58-1 (DXS14) on the proximal short arm. We found only loose linkage or nonlinkage to nine other markers located elsewhere on the chromosome. Our analysis places the gene defect for this disorder in the region of DXYS1 and p58-1, near the centromere of the X chromosome.

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Year:  1986        PMID: 3024556     DOI: 10.1002/ana.410200414

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  22 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.  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

3.  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

4.  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

5.  Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

Authors:  C K Abrams; M M Freidin; V K Verselis; M V Bennett; T A Bargiello
Journal:  Brain Res       Date:  2001-05-04       Impact factor: 3.252

Review 6.  Hereditary motor and sensory neuropathies.

Authors:  J M Vance
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

7.  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

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.  Charcot-marie-tooth disease: seventeen causative genes.

Authors:  Jung-Hwa Lee; Byung-Ok Choi
Journal:  J Clin Neurol       Date:  2006-06-20       Impact factor: 3.077

Review 10.  Diagnosis of genetic disease using recombinant DNA. Supplement.

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

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