Abstract
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder for which the biochemical defect is as yet unknown. Recently, two cloned segments of human X-chromosome DNA have been described which detect structural alterations within or near the genetic locus responsible for the disorder1,2. Both of these cloned segments were described as tightly linked to the locus and were capable of detecting deletions in the DNA of boys affected with DMD. In an attempt to determine more precisely the occurrence of these deletions within a large population of DMD patients and the accuracy of one of the segments, DXS164 (pERT87), in determining the inheritance of the DMD X chromosome, the subclones 1, 8 and 15 were made available to many investigators throughout the world. Here we describe the combined results of more than 20 research laboratories with respect to the occurrence of deletions at the DXS164 locus in DNA samples isolated from patients with DMD and Becker muscular dystrophy (BMD). The results indicate that the DXS164 locus apparently recombines with DMD 5% of the time, but is probably located between independent sites of mutation which yield DMD. The breakpoints of some deletions are delineated within the DXS164 locus, and it is evident that the deletions at the DMD locus are frequent and extremely large.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Monaco, A. P. et al. Nature 316, 842–845 (1985).
Ray, P. N. et al. Nature 318, 672–675 (1985).
Bender, W. et al. Science 221, 23–29 (1983).
Frischauf, A. M. et al. J. molec. Biol 170, 827–842 (1983).
Botstein, D. et al. Am. J. hum. Genet. 32, 314–331 (1980).
Brown, C. S. et al. Hum. Genet. 71, 62–74 (1985).
Fadda, S. et al. Hum. Genet. 71, 33–36 (1985).
Wilcox, D. E. et al. Hum. Genet. 70, 365–378 (1985).
de la Chapelle, A. (ed.) Human Gene Mapping 8 (Karger, Basel, 1985).
Hofker, M. H. et al. Hum. Genet. 70, 148–156 (1985).
Aldridge, J. et al. Am. J. hum. Genet. 36, 546–564 (1984).
de Martinville, B. et al. Am. J. hum. Genet. 37, 235–249 (1985).
Francke, U. et al. Am. J. hum. Genet. 37, 250–267 (1985).
Kunkel, L. M. et al. Proc. natn. Acad. Sci. U.S.A. 82, 4778–4782 (1985).
Drayna, D. et al. Science 230, 753–758 (1985).
Mohandas, T. et al. Proc. natn. Acad. Sci. U.S.A. 77, 6759–6763 (1980).
Worton, R. et al. Science 224, 1447–1449 (1984).
Jacobs, P. A. et al. Am. J. hum. Genet. 33, 531–538 (1981).
Pearce, J. M. S. et al. J. Neural. Neurosurg. Psychiat. 27, 181–185 (1964).
Emery, A. E. H. & Holloway, S. Hum. Hered. 27, 118–126 (1977).
Appel, S. H. & Roses, A. D. in The Metabolic Basis of Inherited Disease (ed. Stanbury, J.B.) 1470–1495 (McGraw-Hill, New York, 1983).
Southern, E. M. J. molec. Biol 98, 503–517 (1975).
Middlesworth, W. et al. Nucleic Acids Res. 13, 5723 (1985).
Singer, M. F. Int. Rev. Cytol 76, 67–112 (1982).
Author information
Authors and Affiliations
Consortia
Rights and permissions
About this article
Cite this article
Kunkel, L., co-authors. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322, 73–77 (1986). https://doi.org/10.1038/322073a0
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/322073a0
This article is cited by
-
Dystrophin Short Product, Dp71, Interacts with AQP4 and Kir4.1 Channels in the Mouse Cerebellar Glial Cells in Contrast to Dp427 at Inhibitory Postsynapses in the Purkinje Neurons
Molecular Neurobiology (2023)
-
Generation of dystrophin short product-specific tag-insertion mouse: distinct Dp71 glycoprotein complexes at inhibitory postsynapse and glia limitans
Cellular and Molecular Life Sciences (2022)
-
Complexity of skeletal muscle degeneration: multi-systems pathophysiology and organ crosstalk in dystrophinopathy
Pflügers Archiv - European Journal of Physiology (2021)
-
High-throughput identification of post-transcriptional utrophin up-regulators for Duchenne muscle dystrophy (DMD) therapy
Scientific Reports (2020)
-
DMD genomic deletions characterize a subset of progressive/higher-grade meningiomas with poor outcome
Acta Neuropathologica (2018)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.