Duchenne muscular dystrophy: High frequency of deletions

R. J. Bartlett*, M. A. Pericak-Vance, J. Koh, L. H. Yamaoka, J. C. Chen, W. Y. Hung, M. C. Speer, M. C. Wapenaar, G. J B Van Ommen, E. Bakker, P. L. Pearson, R. S. Kandt, T. Siddique, J. R. Gilbert, J. E. Lee, M. J. Sirotkin-Roses, A. D. Roses

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1-4
Number of pages4
Issue number1
StatePublished - Jan 1988

ASJC Scopus subject areas

  • Clinical Neurology


Dive into the research topics of 'Duchenne muscular dystrophy: High frequency of deletions'. Together they form a unique fingerprint.

Cite this