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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Monaco, AP; Bertelson, CJ; Middlesworth, W; Colletti, CA; Aldridge, J; Fischbeck, KH; Bartlett, R; Pericak-Vance, MA; Roses, AD; Kunkel, LM

Published Date

  • August 29, 1985

Published In

Volume / Issue

  • 316 / 6031

Start / End Page

  • 842 - 845

PubMed ID

  • 2993910

Pubmed Central ID

  • 2993910

International Standard Serial Number (ISSN)

  • 0028-0836

Digital Object Identifier (DOI)

  • 10.1038/316842a0


  • eng

Conference Location

  • England