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NEUROLOGY 1990;40:222
© 1990 American Academy of Neurology

Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19

L. H. Yamaoka, PhD, M. A. Pericak-Vance, PhD, M. C. Speer, MS, P. C. Gaskell, Jr., PA-C, J. Stajich, PA-C, C. Haynes, BA, W.-Y. Hung, PhD, C. Laberge, MD, M-C. Thibault, PhD, J. Mathieu, MD, A. P. Walker, PhD, R. J. Bartlett, PhD and A. D. Roses, MD

Department of Medicine, Division of Neurology (Drs. Yamaoka, Pericak-Vance, Hung, Bartlett, and Roses, Ms. Speer, Mr. Gaskell, Mr. Stajich, and Ms. Haynes), Duke University Medical Center, Durham, NC; Laval University Medical Center (Drs. Laberge and Thibault), Quebec, PQ, Canada; and Division of Neurology (Dr. Mathieu), Chicoutimi Hospital, Chicoutimi, PQ, Canada.

The myotonic dystrophy (DM) gene is localized to the proximal long arm of chromosome 19. There have been reports of tight linkage to a number of chromosome 19 markers, including APOC2 and creatine kinase muscle type (CKMM), but they did not establish orientation of the 2 markers to DM. We screened several large multi-generational DM families for linkage to a series of chromosome 19 markers including CKMM. CKMM is tightly linked to DM in these data with z({theta}) = 28.41; {theta} = 0.01. Analysis of cross-over data indicates CKMM is on the same side and closer to DM than APOC2. Thus, CKMM is a useful probe for carrier detection studies in presymptomatic individuals as well as for prenatal diagnosis.

Address correspondence and reprint requests to Dr. Allen D. Roses, Box 2900, Duke University Medical Center, Durham, NC 27710.

Supported by NINCDS grant #NS19999 (A.D.R.), Clinical Research Unit grant #M01-RR-30 from NIGMS, a Research Program Project #1 P01-NS-26630 (M.A.P-V.), the Muscular Dystrophy Association of America (A.D.R. and R.J.B.), the Denver Fund for Health and Medical Research of the Piton Foundation (A.D.R.), and a grant from DuPont Corporation (A.D.R.).

Received May 5, 1989. Accepted for publication in final form July 10, 1989.






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