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PMID: 3697082 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Nucleic acids research ·Vol. 15 ·No. 23 ·1987-12-10 ·Pages 9761-9

Smith TJ, Forrest SM, Cross GS, Davies KE

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.

MeSH Terms
Adult Chromosome Deletion Cloning, Molecular/methods Exons Female Genes Humans Male Muscles/analysis Muscular Dystrophies/genetics Mutation Nucleic Acid Hybridization RNA, Messenger/analysis Translocation, Genetic
Chemicals
RNA, Messenger
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Smith T J
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, UK.
Forrest S M
Cross G S
Davies K E
References (12)
12 references, click to expand
  1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.
    J Mol Biol. 1975 Nov 5;98(3):503-17 PMID: 1195397
  2. 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):2303-12 PMID: 6304647
  3. 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 PMID: 6086495
  4. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.
    Science. 1985 Jan 11;227(4683):140-6 PMID: 3155573
  5. 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):4778-82 PMID: 2991893
  6. Preferential deletion of exons in Duchenne and Becker muscular dystrophies.
    Nature. 1987 Oct 15-21;329(6140):638-40 PMID: 2821406
  7. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
    Nature. 1986 Jul 3-9;322(6074):73-7 PMID: 3014348
  8. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.
    Nature. 1986 Oct 16-22;323(6089):646-50 PMID: 3773991
  9. Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.
    Cell. 1987 Jan 30;48(2):351-7 PMID: 3026644
  10. Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients.
    Nucleic Acids Res. 1987 Mar 11;15(5):2167-74 PMID: 3562224
  11. Recombination at the human alpha-globin gene cluster: sequence features and topological constraints.
    Cell. 1987 May 8;49(3):369-78 PMID: 3032452
  12. Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy.
    Clin Genet. 1986 Feb;29(2):108-15 PMID: 3955860
Article Info
Journal
Nucleic acids research
Abbr.
Nucleic Acids Res
ISSN
0305-1048
Published
1987-12-10
Pages
9761-9
Language
English
Region
England
NLM ID
0411011
PMCID
PMC306529
Subset
IM
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