Recombinant DNA strategies in genetic neurological diseases

A. D. Roses, Margaret A Pericak-Vance, L. H. Yamaoka, E. Stubblefield, J. Stajich, Jeffery M Vance, M. J. Roses, D. B. Carter

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

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 screeening 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.

Original languageEnglish
Pages (from-to)339-355
Number of pages17
JournalMuscle and Nerve
Volume6
Issue number5
StatePublished - Sep 23 1983
Externally publishedYes

Fingerprint

Inborn Genetic Diseases
Recombinant DNA
Chromosome Walking
Charcot-Marie-Tooth Disease
Myotonic Dystrophy
Messenger RNA
Duchenne Muscular Dystrophy
Muscular Dystrophies
Huntington Disease
Heterozygote
Neurology
Prenatal Diagnosis
Research
Routine Diagnostic Tests
Libraries
Molecular Biology
Mutation
Therapeutics

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

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 and Nerve, 6(5), 339-355.

Recombinant DNA strategies in genetic neurological diseases. / Roses, A. D.; Pericak-Vance, Margaret A; Yamaoka, L. H.; Stubblefield, E.; Stajich, J.; Vance, Jeffery M; Roses, M. J.; Carter, D. B.

In: Muscle and Nerve, Vol. 6, No. 5, 23.09.1983, p. 339-355.

Research output: Contribution to journalArticle

Roses, AD, Pericak-Vance, MA, Yamaoka, LH, Stubblefield, E, Stajich, J, Vance, JM, Roses, MJ & Carter, DB 1983, 'Recombinant DNA strategies in genetic neurological diseases', Muscle and Nerve, vol. 6, no. 5, pp. 339-355.
Roses AD, Pericak-Vance MA, Yamaoka LH, Stubblefield E, Stajich J, Vance JM et al. Recombinant DNA strategies in genetic neurological diseases. Muscle and Nerve. 1983 Sep 23;6(5):339-355.
Roses, A. D. ; Pericak-Vance, Margaret A ; Yamaoka, L. H. ; Stubblefield, E. ; Stajich, J. ; Vance, Jeffery M ; Roses, M. J. ; Carter, D. B. / Recombinant DNA strategies in genetic neurological diseases. In: Muscle and Nerve. 1983 ; Vol. 6, No. 5. pp. 339-355.
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