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NEUROLOGY 1987;37:4
© 1987 American Academy of Neurology

Use of serum creatine kinase, pyruvate kinase, and genetic linkage for carrier detection in Duchenne and Becker dystrophy

C. L. Hyser, MD, R. C. Griggs, MD, J. R. Mendell, MD, R. Polakowska, PhD, S. Quirk, BS, M. H. Brooke, MD, G. M. Fenichel, MD and R. A. Doherty, MD

University of Rochester (Drs. Doherty. Hyser, Griggs, and Polaknwska. and Mr. Quirk), Rochester, NY; Ohio State University (Dr. Mendell), Columbus, OH: Washington University (Dr. Brooke). St. Louis, MO; and Vanderbilt University (Dr. Fenichel), Nashville, TN.

Carrier detection in Duchenne dystrophy (DD) and Becker dystrophy (BD) can be achieved with DNA probes that recognize restriction fragment length polymorphisms (RFLPs). In 22 families, we found that 16 of 23 females at risk for being DD or BD carriers could be provided with more definitive indications of carrier status beyond the use of creatine kinase/ pyruvate kinase and pedigree analysis. RFLP analysis was not possible for six individuals despite potentially informative probes, because family members critical to the analysis were unavailable. In only one instance were all eight probes uninformative.

Address correspondence and reprint requests to Dr. Hyser. Box 673. Department of Neurology, University of Rochester School of Medicine, Rochester, NY 14642.

Supported in part by a grant from the Muscular Dystrophy Association and USPHS grant RR00044 from the Division of Research Resources of the NIH.

Presented in part at the thirty-seventh annual meeting of the American Academy of Neurology, Dallas, TX, April 1985. and the thirty-sixth annual meeting of the American Society of Human Genetics, Salt Lake City, UT. October 1985.

Received January 28, 1986. Accepted for publication March 24, 1986.




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