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Recombinant DNA strategies in genetic neurological diseases.

Publication ,  Journal Article
Roses, AD; Pericak-Vance, MA; Yamaoka, LH; Stubblefield, E; Stajich, J; Vance, JM; Roses, MJ; Carter, DB
Published in: Muscle Nerve
June 1983

The application of recombinant DNA techniques applied to the study of genetic neurological diseases will play a major role in the practice of neurology in upcoming years. Strategies are now available to develop useful and relatively simple biochemical diagnostic tests for heterozygous individuals with diseases inherited as autosomal dominant traits. In addition, molecular genetic methods will lead to the delineation of the genomic mutations responsible for these diseases. This review will update the current status of research in several neurological genetic diseases including myotonic muscular dystrophy, Huntington's disease, Charcot-Marie-Tooth disease and Duchenne muscular dystrophy (X-linked). An introduction and overview of the methodology is provided. Specific research strategies including random screening of libraries, chromosome walking, messenger RNA selection, and messenger RNA translation are described. These strategies are designed to provide heterozygote identification, prenatal diagnosis and gestational management, the development of rational therapies, and the understanding of the molecular basis of disease expression.

Duke Scholars

Published In

Muscle Nerve

DOI

ISSN

0148-639X

Publication Date

June 1983

Volume

6

Issue

5

Start / End Page

339 / 355

Location

United States

Related Subject Headings

  • Selection, Genetic
  • RNA, Messenger
  • Protein Biosynthesis
  • Prenatal Diagnosis
  • Pregnancy
  • Polymorphism, Genetic
  • Neurology & Neurosurgery
  • Nervous System Diseases
  • Muscular Dystrophies
  • Huntington Disease
 

Citation

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Roses, A. D., Pericak-Vance, M. A., Yamaoka, L. H., Stubblefield, E., Stajich, J., Vance, J. M., … Carter, D. B. (1983). Recombinant DNA strategies in genetic neurological diseases. Muscle Nerve, 6(5), 339–355. https://doi.org/10.1002/mus.880060503
Roses, A. D., M. A. Pericak-Vance, L. H. Yamaoka, E. Stubblefield, J. Stajich, J. M. Vance, M. J. Roses, and D. B. Carter. “Recombinant DNA strategies in genetic neurological diseases.Muscle Nerve 6, no. 5 (June 1983): 339–55. https://doi.org/10.1002/mus.880060503.
Roses AD, Pericak-Vance MA, Yamaoka LH, Stubblefield E, Stajich J, Vance JM, et al. Recombinant DNA strategies in genetic neurological diseases. Muscle Nerve. 1983 Jun;6(5):339–55.
Roses, A. D., et al. “Recombinant DNA strategies in genetic neurological diseases.Muscle Nerve, vol. 6, no. 5, June 1983, pp. 339–55. Pubmed, doi:10.1002/mus.880060503.
Roses AD, Pericak-Vance MA, Yamaoka LH, Stubblefield E, Stajich J, Vance JM, Roses MJ, Carter DB. Recombinant DNA strategies in genetic neurological diseases. Muscle Nerve. 1983 Jun;6(5):339–355.
Journal cover image

Published In

Muscle Nerve

DOI

ISSN

0148-639X

Publication Date

June 1983

Volume

6

Issue

5

Start / End Page

339 / 355

Location

United States

Related Subject Headings

  • Selection, Genetic
  • RNA, Messenger
  • Protein Biosynthesis
  • Prenatal Diagnosis
  • Pregnancy
  • Polymorphism, Genetic
  • Neurology & Neurosurgery
  • Nervous System Diseases
  • Muscular Dystrophies
  • Huntington Disease