Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients
Open Access
- 15 March 1987
- journal article
- research article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 15 (5), 2167-2174
- https://doi.org/10.1093/nar/15.5.2167
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.Keywords
This publication has 12 references indexed in Scilit:
- Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophyNature, 1986
- Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophyClinical Genetics, 1986
- Molecular genetics of the human X chromosome.Journal of Medical Genetics, 1985
- Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segmentNature, 1985
- Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.Proceedings of the National Academy of Sciences, 1985
- PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPsThe Lancet, 1985
- Report of the committee on the genetic constitution of the X and Y chromosomesCytogenetic and Genome Research, 1985
- Y-encoded, species-specific DNA in mice: Evidence that the Y chromosome exists in two polymorphic forms in inbred strainsCell, 1984
- Duchenne muscular dystrophy: Pathogenetic aspects and genetic preventionHuman Genetics, 1984
- Interferon inhibits transformation by murine sarcoma viruses before integration of provirusNature, 1980