Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy (original) (raw)

Nature volume 300, pages 69–71 (1982)Cite this article

Abstract

Duchenne muscular dystrophy (DMD) is one of the most common and serious human X-linked disorders. It occurs at a frequency of up to 1 in 5,000 newborn males in most populations studied, with about one-third of all cases due to new mutations1. The primary biochemical defect remains unknown, and no proven prenatal diagnostic test exists, although raised serum creatine kinase levels act as a somewhat equivocal guide to carrier females2. Previous studies have shown no measurable genetic linkage of the DMD locus with any X-chromosome marker3,4. Therefore, if a cloned sequence of the X chromosome could be used to define the locus, and to provide a closely linked set of markers, it would be of considerable importance in the prediction and prevention of DMD, as well as a step towards identifying the basic biochemical defect causing the disease. We present here evidence of an X-chromosome sequence, defined by its restriction enzyme polymorphism, that is loosely linked to DMD, at a distance of approximately 10 centimorgans, as determined by studies on nine informative families. The polymorphism occurs in 29% of women in a control London population and in 22% of carriers for DMD. The linkage data support cytogenetic evidence that DMD is on the short arm of the X chromosome. The object of this letter is to encourage others to make use of our probe, which seems to be linked to the DMD locus.

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Authors and Affiliations

  1. Department of Biochemistry, St Mary's Hospital Medical School, University of London, London, W2 1PG, UK
    J. M. Murray, K. E. Davies & R. Williamson
  2. Department of Medical Genetics, University Hospital of Wales, Cardiff, CF4 4XN, UK
    J. M. Murray, P. S. Harper & L. Meredith
  3. Department of Human Genetics, University of Freiburg, 7800, Freiburg, FRG
    C. R. Mueller

Authors

  1. J. M. Murray
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  2. K. E. Davies
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  3. P. S. Harper
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  4. L. Meredith
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  5. C. R. Mueller
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  6. R. Williamson
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Murray, J., Davies, K., Harper, P. et al. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy.Nature 300, 69–71 (1982). https://doi.org/10.1038/300069a0

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