A new probe for the diagnosis of myotonic muscular dystrophy.
Publication
, Journal Article
Bartlett, RJ; Pericak-Vance, MA; Yamaoka, L; Gilbert, J; Herbstreith, M; Hung, WY; Lee, JE; Mohandas, T; Bruns, G; Laberge, C
Published in: Science
March 27, 1987
Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19S19), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4.
Duke Scholars
Published In
Science
DOI
ISSN
0036-8075
Publication Date
March 27, 1987
Volume
235
Issue
4796
Start / End Page
1648 / 1650
Location
United States
Related Subject Headings
- Polymorphism, Genetic
- Pedigree
- Muscular Dystrophies
- Humans
- Genetic Linkage
- General Science & Technology
- DNA Restriction Enzymes
- Chromosomes, Human, Pair 19
- Chromosome Mapping
- Child
Citation
APA
Chicago
ICMJE
MLA
NLM
Bartlett, R. J., Pericak-Vance, M. A., Yamaoka, L., Gilbert, J., Herbstreith, M., Hung, W. Y., … Laberge, C. (1987). A new probe for the diagnosis of myotonic muscular dystrophy. Science, 235(4796), 1648–1650. https://doi.org/10.1126/science.3029876
Bartlett, R. J., M. A. Pericak-Vance, L. Yamaoka, J. Gilbert, M. Herbstreith, W. Y. Hung, J. E. Lee, T. Mohandas, G. Bruns, and C. Laberge. “A new probe for the diagnosis of myotonic muscular dystrophy.” Science 235, no. 4796 (March 27, 1987): 1648–50. https://doi.org/10.1126/science.3029876.
Bartlett RJ, Pericak-Vance MA, Yamaoka L, Gilbert J, Herbstreith M, Hung WY, et al. A new probe for the diagnosis of myotonic muscular dystrophy. Science. 1987 Mar 27;235(4796):1648–50.
Bartlett, R. J., et al. “A new probe for the diagnosis of myotonic muscular dystrophy.” Science, vol. 235, no. 4796, Mar. 1987, pp. 1648–50. Pubmed, doi:10.1126/science.3029876.
Bartlett RJ, Pericak-Vance MA, Yamaoka L, Gilbert J, Herbstreith M, Hung WY, Lee JE, Mohandas T, Bruns G, Laberge C. A new probe for the diagnosis of myotonic muscular dystrophy. Science. 1987 Mar 27;235(4796):1648–1650.
Published In
Science
DOI
ISSN
0036-8075
Publication Date
March 27, 1987
Volume
235
Issue
4796
Start / End Page
1648 / 1650
Location
United States
Related Subject Headings
- Polymorphism, Genetic
- Pedigree
- Muscular Dystrophies
- Humans
- Genetic Linkage
- General Science & Technology
- DNA Restriction Enzymes
- Chromosomes, Human, Pair 19
- Chromosome Mapping
- Child