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
APA
Chicago
ICMJE
MLA
NLM
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