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Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.

Publication ,  Journal Article
Monaco, AP; Bertelson, CJ; Middlesworth, W; Colletti, CA; Aldridge, J; Fischbeck, KH; Bartlett, R; Pericak-Vance, MA; Roses, AD; Kunkel, LM
Published in: Nature
August 29, 1985

The Duchenne muscular dystrophy (DMD) locus has been localized to the short arm of the human X chromosome (Xp21) by detection of structural abnormalities and by genetic linkage studies. A library highly enriched for human DNA from Xp21 was constructed using DNA isolated from a male patient who had a visible deletion and three X-linked disorders (DMD, retinitis pigmentosa and chronic granulomatous disease). Seven cloned DNA probes from this library and the probe 754 (refs 5, 8) are used in the present study to screen for deletions in the DNA isolated from 57 unrelated males with DMD. Five of these DMD males are shown to exhibit deletions for one of the cloned DNA segments and at least 38 kb of surrounding DNA. In addition, two subclones from the same region detect four restriction fragment length polymorphisms which exhibit no obligate recombination with DMD in 34 meiotic events. These new DNA segments will complement the existing Xp21 probes for use in carrier detection and prenatal diagnosis of DMD. Elucidation of the end points of the five deletions will help delineate the extent of the DMD locus and ultimately lead to an understanding of the specific sequences involved in DMD.

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Published In

Nature

DOI

ISSN

0028-0836

Publication Date

August 29, 1985

Volume

316

Issue

6031

Start / End Page

842 / 845

Location

England

Related Subject Headings

  • X Chromosome
  • Sex Factors
  • Muscular Dystrophies
  • Male
  • Humans
  • Genetic Carrier Screening
  • General Science & Technology
  • Female
  • DNA Restriction Enzymes
  • Cloning, Molecular
 

Citation

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Monaco, A. P., Bertelson, C. J., Middlesworth, W., Colletti, C. A., Aldridge, J., Fischbeck, K. H., … Kunkel, L. M. (1985). Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature, 316(6031), 842–845. https://doi.org/10.1038/316842a0
Monaco, A. P., C. J. Bertelson, W. Middlesworth, C. A. Colletti, J. Aldridge, K. H. Fischbeck, R. Bartlett, M. A. Pericak-Vance, A. D. Roses, and L. M. Kunkel. “Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.Nature 316, no. 6031 (August 29, 1985): 842–45. https://doi.org/10.1038/316842a0.
Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, et al. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature. 1985 Aug 29;316(6031):842–5.
Monaco, A. P., et al. “Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.Nature, vol. 316, no. 6031, Aug. 1985, pp. 842–45. Pubmed, doi:10.1038/316842a0.
Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature. 1985 Aug 29;316(6031):842–845.
Journal cover image

Published In

Nature

DOI

ISSN

0028-0836

Publication Date

August 29, 1985

Volume

316

Issue

6031

Start / End Page

842 / 845

Location

England

Related Subject Headings

  • X Chromosome
  • Sex Factors
  • Muscular Dystrophies
  • Male
  • Humans
  • Genetic Carrier Screening
  • General Science & Technology
  • Female
  • DNA Restriction Enzymes
  • Cloning, Molecular