Duchenne muscular dystrophy: high frequency of deletions.


Journal Article

DNA probes are available for Duchenne muscular dystrophy (DMD) carrier detection and prenatal diagnosis. With probes for about 25% of the proximal portion of the gene, we found the proximal probes detected deletions in 23% of nonselected DMD boys, while a single distal probe detected 17% more as deletions. The combined percentage was 39% for all probes tested. Prenatal diagnosis and carrier detection are more accurate if deletions are mapped rather than by use of restriction fragment length polymorphism analysis. The effort involved in screening all affected boys for deletions is considerably less, and provides an accurate genetic marker for subsequent prenatal diagnosis in the family and prospective counseling for female relatives. It seems likely that, once the entire gene (cDNA) is available for screening, most DMD boys will show deletions.

Full Text

Duke Authors

Cited Authors

  • Bartlett, RJ; Pericak-Vance, MA; Koh, J; Yamaoka, LH; Chen, JC; Hung, WY; Speer, MC; Wapenaar, MC; Van Ommen, GJ; Bakker, E

Published Date

  • January 1988

Published In

Volume / Issue

  • 38 / 1

Start / End Page

  • 1 - 4

PubMed ID

  • 3275902

Pubmed Central ID

  • 3275902

International Standard Serial Number (ISSN)

  • 0028-3878

Digital Object Identifier (DOI)

  • 10.1212/wnl.38.1.1


  • eng

Conference Location

  • United States