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NEUROLOGY 1988;38:1
© 1988 American Academy of Neurology

Duchenne muscular dystrophy

High frequency of deletions

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

Departments of Medicine, Division of Neurology (Drs. Bartlett, Pericak-Vance, Yamaoka, Hung, Siddique, Gilbert, and Roses, Mr. Koh, and Ms. Chen, Speer, and Sirotkin-Roses), Psychiatry (Dr. Lee), and Pediatrics (Dr. Kandt); Duke University Medical Center, Durham, NC; and the Department of Human Genetics, (Drs. Van Ommen, Bakker, and Pearson, and Mr. Wapenaar), Sylvius Laboratory, Leiden, The Netherlands.

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.

Address correspondence and reprint requests to Dr. Bartlett, Division of Neurology, Duke University Medical Center, PO Box 2900, Durham, NC 27710.

Supported by a Clinical Research Grant from the Muscular Dystrophy Association, a grant from the Neuromuscular Foundation of Western Australia, the Denver Fund for Health and Medical Research, and a Clinical Research Unit Grant RR-30 from NIGMS.

Received August 7, 1987. Accepted for publication in final form September 23, 1987.




This article has been cited by other articles:


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 Arch NeurolHome page
C. S. Payne and A. D. Roses
The Molecular Genetic Revolution: Its Impact on Clinical Neurology
Arch Neurol, December 1, 1988; 45(12): 1366 - 1376.
[Abstract] [PDF]


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