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Myotonic dystrophy: update on progress to define the gene.

Publication ,  Journal Article
Roses, AD; Pericak-Vance, MA; Bartlett, RJ; Yamaoka, LH; Lee, JE; Koh, J; Chen, JC; Gilbert, JR; Ross, DA; Herbstreith, MH
Published in: Aust Paediatr J
1988

Using standard likelihood linkage techniques, the gene for dystrophia myotonica has been localized to the proximal long arm of chromosome 19. Several large families provided the substrate for detecting linkage of restriction fragment length polymorphisms which were developed in the laboratory from flow-sorted chromosome 19 genomic libraries. In over 500 family members from five families only a single cross-over with ApoC2 was detected. Thus a useful probe for antenatal and preclinical diagnosis is now available. Details of the strategy employed within the framework of clinical diagnosis, genetic epidemiology and recombinant DNA techniques is described.

Duke Scholars

Published In

Aust Paediatr J

ISSN

0004-993X

Publication Date

1988

Volume

24 Suppl 1

Start / End Page

66 / 69

Location

Australia

Related Subject Headings

  • Myotonic Dystrophy
  • Humans
  • Genetic Linkage
  • DNA Probes
  • Chromosomes, Human, Pair 19
  • Child
 

Citation

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Roses, A. D., Pericak-Vance, M. A., Bartlett, R. J., Yamaoka, L. H., Lee, J. E., Koh, J., … Herbstreith, M. H. (1988). Myotonic dystrophy: update on progress to define the gene. Aust Paediatr J, 24 Suppl 1, 66–69.
Roses, A. D., M. A. Pericak-Vance, R. J. Bartlett, L. H. Yamaoka, J. E. Lee, J. Koh, J. C. Chen, J. R. Gilbert, D. A. Ross, and M. H. Herbstreith. “Myotonic dystrophy: update on progress to define the gene.Aust Paediatr J 24 Suppl 1 (1988): 66–69.
Roses AD, Pericak-Vance MA, Bartlett RJ, Yamaoka LH, Lee JE, Koh J, et al. Myotonic dystrophy: update on progress to define the gene. Aust Paediatr J. 1988;24 Suppl 1:66–9.
Roses, A. D., et al. “Myotonic dystrophy: update on progress to define the gene.Aust Paediatr J, vol. 24 Suppl 1, 1988, pp. 66–69.
Roses AD, Pericak-Vance MA, Bartlett RJ, Yamaoka LH, Lee JE, Koh J, Chen JC, Gilbert JR, Ross DA, Herbstreith MH. Myotonic dystrophy: update on progress to define the gene. Aust Paediatr J. 1988;24 Suppl 1:66–69.

Published In

Aust Paediatr J

ISSN

0004-993X

Publication Date

1988

Volume

24 Suppl 1

Start / End Page

66 / 69

Location

Australia

Related Subject Headings

  • Myotonic Dystrophy
  • Humans
  • Genetic Linkage
  • DNA Probes
  • Chromosomes, Human, Pair 19
  • Child