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Carrier diagnosis of Duchenne muscular dystrophy using restriction fragment length polymorphisms

Institute for Molecular Genetics (Drs. Hejtmancik, Harris, Tsao, Ward, and Caskey) and the Department of Medicine (Drs. Hejtmancik and Caskey), Baylor College of Medicine, Houston, TX.

Molecular probes that are tightly linked to and flank the Duchenne muscular dystrophy (DMD) locus, have been used to characterize DMD mutations and diagnose female carriers. Deletions within the Xp21 region were identified for 8 of 71 families studied. Using both DNA and CK studies, accurate (96 to 98%) carrier or noncarrier diagnoses were made for 51 of 75 females at risk in 24 families with a single affected male. DNA studies resulted in an alteration of predicted risk in 40% of the cases. Recombinant diagnostic methods are useful for carrier detection in families with one or more affected males.

Address correspondence and reprint requests to Dr. Hejtmancik, Department of Medicine, Baylor College of Medicine, Houston, TX 77030.

We gratefully acknowledge support from the MDA's Task Force on Genetics.

Accepted for publication July 14, 1986.

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