Molecular genetic approaches to the study of the nervous system.

Abstract:

:Disorders primarily affecting the nervous system comprise approximately one third of all established Mendelian genetic diseases in man. Recombinant DNA technology provides new approaches to the diagnosis and elucidation of the molecular pathology of these disorders. For a small but increasing number of disorders the DNA sequence coding for the involved protein has been used to define the precise molecular defect. An example is the Lesch-Nyhan syndrome. In many other situations, DNA fragments located near to the mutant gene can be used in family linkage studies to determine who is likely to have inherited the abnormal allele(s). Examples include Duchenne muscular dystrophy, Huntington's disease, and phenylketonuria. This technology offers unique opportunities to investigate the function of the nervous system in health and disease and will have a major impact on the neurosciences and the practice of clinical neurology.

journal_name

Dev Neurosci

authors

Hayden MR,Nichols JL

doi

10.1159/000112346

subject

Has Abstract

pub_date

1983-01-01 00:00:00

pages

189-214

issue

4-5

eissn

0378-5866

issn

1421-9859

journal_volume

6

pub_type

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