Skip to main content
PMC home page
Nucleic Acids Research logoLink to Nucleic Acids Research
. 1987 Dec 10;15(23):9761–9769. doi: 10.1093/nar/15.23.9761

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

T J Smith 1, S M Forrest 1, G S Cross 1, K E Davies 1
PMCID: PMC306529  PMID: 3697082

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.

Full text

PDF
9761

Images in this article

9763Image
on p.9763
9766Image
on p.9766
9768Image
on p.9768

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Boyd Y., Buckle V. J. Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin Genet. 1986 Feb;29(2):108–115. doi: 10.1111/j.1399-0004.1986.tb01232.x. [DOI] [PubMed] [Google Scholar]
  2. Davies K. E., Pearson P. L., Harper P. S., Murray J. M., O'Brien T., Sarfarazi M., Williamson R. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res. 1983 Apr 25;11(8):2303–2312. doi: 10.1093/nar/11.8.2303. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Forrest S. M., Cross G. S., Speer A., Gardner-Medwin D., Burn J., Davies K. E. Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature. 1987 Oct 15;329(6140):638–640. doi: 10.1038/329638a0. [DOI] [PubMed] [Google Scholar]
  4. Kenwrick S., Patterson M., Speer A., Fischbeck K., Davies K. Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis. Cell. 1987 Jan 30;48(2):351–357. doi: 10.1016/0092-8674(87)90438-7. [DOI] [PubMed] [Google Scholar]
  5. Kingston H. M., Sarfarazi M., Thomas N. S., Harper P. S. Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences. Hum Genet. 1984;67(1):6–17. doi: 10.1007/BF00270551. [DOI] [PubMed] [Google Scholar]
  6. Kunkel L. M., Hejtmancik J. F., Caskey C. T., Speer A., Monaco A. P., Middlesworth W., Colletti C. A., Bertelson C., Müller U., Bresnan M. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature. 1986 Jul 3;322(6074):73–77. doi: 10.1038/322073a0. [DOI] [PubMed] [Google Scholar]
  7. Kunkel L. M., Monaco A. P., Middlesworth W., Ochs H. D., Latt S. A. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A. 1985 Jul;82(14):4778–4782. doi: 10.1073/pnas.82.14.4778. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Lehrman M. A., Schneider W. J., Südhof T. C., Brown M. S., Goldstein J. L., Russell D. W. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science. 1985 Jan 11;227(4683):140–146. doi: 10.1126/science.3155573. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Monaco A. P., Neve R. L., Colletti-Feener C., Bertelson C. J., Kurnit D. M., Kunkel L. M. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 1986 Oct 16;323(6089):646–650. doi: 10.1038/323646a0. [DOI] [PubMed] [Google Scholar]
  10. Nicholls R. D., Fischel-Ghodsian N., Higgs D. R. Recombination at the human alpha-globin gene cluster: sequence features and topological constraints. Cell. 1987 May 8;49(3):369–378. doi: 10.1016/0092-8674(87)90289-3. [DOI] [PubMed] [Google Scholar]
  11. Smith T. J., Wilson L., Kenwrick S. J., Forrest S. M., Speer A., Coutelle C., Davies K. E. Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients. Nucleic Acids Res. 1987 Mar 11;15(5):2167–2174. doi: 10.1093/nar/15.5.2167. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]

Articles from Nucleic Acids Research are provided here courtesy of Oxford University Press

RESOURCES