Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19

Margaret A Pericak-Vance, L. H. Yamaoka, R. I F Assinder, W. Y. Hung, R. J. Bartlett, J. M. Stajich, P. C. Gaskell, D. A. Ross, S. Sherman, G. H. Fey

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Abstract

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 (θ) of 0.02, with 95% confidence limits for θ of 0.001 to 0.065. Thus, apolipoprotein C2 is useful in carrier detection and prenatal diagnosis with an accuracy of about 98%.

Original languageEnglish
Pages (from-to)1418-1423
Number of pages6
JournalNeurology
Volume36
Issue number11
StatePublished - Dec 1 1986
Externally publishedYes

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Chromosomes, Human, Pair 19
Myotonic Dystrophy
Apolipoproteins
Lod Score
Muscular Dystrophies
Prenatal Diagnosis
Restriction Fragment Length Polymorphisms
Genetic Recombination
Complementary DNA

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Pericak-Vance, M. A., Yamaoka, L. H., Assinder, R. I. F., Hung, W. Y., Bartlett, R. J., Stajich, J. M., ... Fey, G. H. (1986). Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19. Neurology, 36(11), 1418-1423.

Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19. / Pericak-Vance, Margaret A; Yamaoka, L. H.; Assinder, R. I F; Hung, W. Y.; Bartlett, R. J.; Stajich, J. M.; Gaskell, P. C.; Ross, D. A.; Sherman, S.; Fey, G. H.

In: Neurology, Vol. 36, No. 11, 01.12.1986, p. 1418-1423.

Research output: Contribution to journalArticle

Pericak-Vance, MA, Yamaoka, LH, Assinder, RIF, Hung, WY, Bartlett, RJ, Stajich, JM, Gaskell, PC, Ross, DA, Sherman, S & Fey, GH 1986, 'Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19', Neurology, vol. 36, no. 11, pp. 1418-1423.
Pericak-Vance MA, Yamaoka LH, Assinder RIF, Hung WY, Bartlett RJ, Stajich JM et al. Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19. Neurology. 1986 Dec 1;36(11):1418-1423.
Pericak-Vance, Margaret A ; Yamaoka, L. H. ; Assinder, R. I F ; Hung, W. Y. ; Bartlett, R. J. ; Stajich, J. M. ; Gaskell, P. C. ; Ross, D. A. ; Sherman, S. ; Fey, G. H. / Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19. In: Neurology. 1986 ; Vol. 36, No. 11. pp. 1418-1423.
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