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Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

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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.

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  1. co-authors: J. F. Hejtmancik & C.Th. Caskey, Institute of Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030, USA; A. Speer, Central Institute of Molecular Biology, Academy of Science DDR, 1115 Berlin, DDR; A. P. Monaco, W. Middlesworth, C. A. Colletti, C. Bertelson & U. Müller (Division of Genetics), M. Bresnan (Department of Neurology), F. Shapiro (Department of Orthopedics), U. Tantravahi, J. Speer & S. A. Latt (Division of Genetics, DMD Diagnostic Laboratory), The Children's Hospital, Boston, Massachusetts 02115, USA; R. Bartlett, M. A. Pericak-Vance & A. D. Roses, Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710, USA; M. W. Thompson, P. N. Ray & R. G. Worton, Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8; K. H. Fischbeck, Neurology Department, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA; P. Gallano, M. Coulon, C. Duros, J. Boue & C. Junien, INSERM 473, Chateau de Longchamp, 75016 Paris, France; J. Chelly, G. Hamard, M. Jeanpierre, M. Lambert & J.-C. Kaplan, Institut de Pathologic Moléculaire, INSERM 129, Chu Cochin, 75014 Paris, France; A. Emery, Medical School, Teviot Place, Edinburgh EH189GA, UK; H. Dorkins, S. McGlade & K. E. Davies, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford OX3 9DU, UK; C. Boehm, Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland 21205, USA; B. Arveiler & C. Lemaire, Laboratoire de Genetique Moleculaire des Eucaryotes, CNRS and INSERM U184, Faculte de Medicine, Strasbourg, France; G. J. Morgan & M. J. Denton, Department of Pathology, Prince of Wales Hospital, Sydney, New South Wales 2031, Australia; J. Amos, Eunice Kennedy Shriver Center, Waltham, Massachusetts 02254, USA; M. Bobrow, F. Benham, E. Boswinkel, C. Cole, V. Dubowitz, K. Hart, S. Hodgson, L. Johnson & A. Walker, Paediatric Research Unit, United Medical and Dental Schools of Guy's and St Thomas's Hospitals/Hammersmith Hospital, London SE1 9RT, UK; L. Roncuzzi, A. Ferlini, C. Nobile & G. Romeo, Laboratory of Molecular Genetics, Institute G. Gaslini, 16148 Geneva Quarto, and Laboratory of Genetics, Clinica Neurologica, Università di Bologna, Italy; D. E. Wilcox, N. A. Affara & M. A. Ferguson-Smith, Duncan Guthrie Institute of Medical Genetics, University of Glasgow, Yorkhill, Glasgow G38 SJ, UK; M. Lindlof, H. Kaariainen & A. de la Chapelle, Department of Medical Genetics, University of Helsinki, 00290 Helsinki, Finland; V. lonasescu, Ch. Searby & R. lonasescu, Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA; E. Bakker, G.-J.B. van Ommen & P. L. Pearson, Department of Human Genetics, Sylvius Laboratories, University of Leiden, The Netherlands; C. R. Greenberg, J. L. Hamerton & K. Wrogemann, Departments of Human Genetics and Biochemistry, University of Manitoba, Winnipeg, Manitoba, Canada R3E OW3; R. A. Doherty, R. Polakowska, C. Hyser & S. Quirk, Division of Genetics and Dysmorphology, University of Rochester Medical Center, Rochester, New York 14642, USA; N. Thomas, Department of Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF44XN, UK; J. F. Harper, B. T. Darras & U. Francke, Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

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  1. Division of Genetics, The Children's Hospital, Boston, Massachusetts, 02115, USA

    Louis M. Kunkel

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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

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  • DOI: https://doi.org/10.1038/322073a0

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