Isolation of a conserved sequence deleted in duchenne muscular dystrophy patients

  • Terry J. Smith
  • , Lynn Wilson
  • , Susan J. Kenwrick
  • , Susan M. Forrest
  • , Astrid Speer
  • , Charles Coutelle
  • , Kay E. Davies

Research output: Contribution to a Journal (Peer & Non Peer)Articlepeer-review

25 Citations (Scopus)

Abstract

We Have isolated a DNA sequence (HJP25) by subtraction-hybridisation which is deleted in a number of Duchenne muscular dystrophy (DMD) patients. HIP25 is conserved in evolution and hybridises to human fetal and adult muscle mRNA. HIP25 is absent in human fetal fibroblast mRNA. Physical mapping data localise this sequence within Xp21 between the breakpoints or Xiautosome translocations found in two females suffering from the disease. HIP25 is a candidate exon sequence for the basic defect in DMD boys deleted at this locus.

Original languageEnglish
Pages (from-to)2167-2174
Number of pages8
JournalNucleic Acids Research
Volume15
Issue number5
DOIs
Publication statusPublished - 15 Mar 1987
Externally publishedYes

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