Literature DB >> 3697082

Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene.

T J Smith1, S M Forrest, G S Cross, K E Davies.   

Abstract

We have isolated overlapping human fetal muscle cDNAs encompassing 2.6kb which are localised very close to the 5' end of the Duchenne muscular dystrophy (DMD) gene. Using DNA from patients with deletions of previously reported genomic probes, we have mapped the exons across the region. Investigation of deletions in both DMD and Becker muscular dystrophy (BMD) patients shows the deletions to be present in 10% of cases and heterogeneous.

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Year:  1987        PMID： 3697082      PMCID： PMC306529          DOI： 10.1093/nar/15.23.9761

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  12 in total

1.  Preferential deletion of exons in Duchenne and Becker muscular dystrophies.

Authors:  S M Forrest; G S Cross; A Speer; D Gardner-Medwin; J Burn; K E Davies
Journal:  Nature       Date:  1987 Oct 15-21       Impact factor: 49.962

2.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

3.  Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.

Authors:  S Kenwrick; M Patterson; A Speer; K Fischbeck; K Davies
Journal:  Cell       Date:  1987-01-30       Impact factor: 41.582

4.  Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Authors:  L M Kunkel; J F Hejtmancik; C T Caskey; A Speer; A P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; M A Pericak-Vance; A D Roses; M W Thompson; P N Ray; R G Worton; K H Fischbeck; P Gallano; M Coulon; C Duros; J Boue; C Junien; J Chelly; G Hamard; M Jeanpierre; M Lambert; J C Kaplan; A Emery; H Dorkins; S McGlade; K E Davies; C Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; M Bobrow; F Benham; E Boswinkel; C Cole; V Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; A Ferlini; C Nobile; G Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; C Searby; R Ionasescu; E Bakker; G J van Ommen; P L Pearson; C R Greenberg; J L Hamerton; K Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; J F Harper; B T Darras; U Francke
Journal:  Nature       Date:  1986 Jul 3-9       Impact factor: 49.962

5.  Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences.

Authors:  H M Kingston; M Sarfarazi; N S Thomas; P S Harper
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients.

Authors:  T J Smith; L Wilson; S J Kenwrick; S M Forrest; A Speer; C Coutelle; K E Davies
Journal:  Nucleic Acids Res       Date:  1987-03-11       Impact factor: 16.971

7.  Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.

Authors:  M A Lehrman; W J Schneider; T C Südhof; M S Brown; J L Goldstein; D W Russell
Journal:  Science       Date:  1985-01-11       Impact factor: 47.728

8.  Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.

Authors:  A P Monaco; R L Neve; C Colletti-Feener; C J Bertelson; D M Kurnit; L M Kunkel
Journal:  Nature       Date:  1986 Oct 16-22       Impact factor: 49.962

9.  Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

Authors:  L M Kunkel; A P Monaco; W Middlesworth; H D Ochs; S A Latt
Journal:  Proc Natl Acad Sci U S A       Date:  1985-07       Impact factor: 11.205

10.  Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome.

Authors:  K E Davies; P L Pearson; P S Harper; J M Murray; T O'Brien; M Sarfarazi; R Williamson
Journal:  Nucleic Acids Res       Date:  1983-04-25       Impact factor: 16.971
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  8 in total

1.  Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

Authors:  B T Darras; P Blattner; J F Harper; A J Spiro; S Alter; U Francke
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

2.  Molecular deletion patterns in Duchenne and Becker type muscular dystrophy.

Authors:  S Liechti-Gallati; M Koenig; L M Kunkel; D Frey; E Boltshauser; V Schneider; S Braga; H Moser
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

3.  Localisation of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping.

Authors:  S J Kenwrick; T J Smith; S England; F Collins; K E Davies
Journal:  Nucleic Acids Res       Date:  1988-02-25       Impact factor: 16.971

4.  A PvuII polymorphism near exon 2 of the dystrophin gene.

Authors:  G S Cross; J T Donnelly; A L Sharif
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

5.  Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouse.

Authors:  D R Love; G E Morris; J M Ellis; U Fairbrother; R F Marsden; J F Bloomfield; Y H Edwards; C P Slater; D J Parry; K E Davies
Journal:  Proc Natl Acad Sci U S A       Date:  1991-04-15       Impact factor: 11.205

6.  Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy.

Authors:  S Hodgson; K Hart; S Abbs; J Heckmatt; E Rodillo; M Bobrow; V Dubowitz
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

7.  Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115.

Authors:  M R Passos-Bueno; D Rapaport; D Love; T Flint; E R Bortolini; M Zatz; K E Davies
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

8.  Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.

Authors:  L V Nicholson; M A Johnson; K M Bushby; D Gardner-Medwin; A Curtis; I B Ginjaar; J T den Dunnen; J L Welch; T J Butler; E Bakker
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318
  8 in total

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