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NEUROLOGY 1986;36:1418
© 1986 American Academy of Neurology

Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19

M. A. Pericak-Vance, PhD, L. H. Yamaoka, PhD, R.I.F. Assinder, BA, W-Y. Hung, PhD, R. J. Bartlett, PhD, J. M. Stajich, PA-C, P. C. Gaskell, PA-C, D. A. Ross, PhD, S. Sherman, PhD, G. H. Fey, PhD, S. Humphries, PhD, R. Williamson, PhD and A. D. Roses, MD

Division of Neurology. Duke University Medical Center, Durham, NC.

The cDNA and genomic probes for apolipoprotein C2 detect two restriction fragment length polymorphisms on chromosome 19. The combined estimated percentage of heterozygosity, assuming equilibrium, is approximately 75%, ie, apolipoprotein C2 is informative in 75% of matings. We have analyzed over 350 individuals in large multigenerational families for linkage of apolipoprotein C2 to myotonic muscular dystrophy. The maximum lod score was 16.29 with the maximum recombination fraction ({theta}) of 0.02, with 95% confidence limits for {theta} of 0.001 to 0.065. Thus, apolipoprotein C2 is useful in carrier detection and prenatal diagnosis with an accuracy of about 98%.

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

Supported by a grant from the Denver Fund for Health and Medical Research, Incorporated, by a research grant from the Muscular Dystrophy Association and the NINCDS (#NS19999), and by a Clinical Research Unit grant (RR-30).

Accepted for publication March 10, 1986.




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