[Molecular genetics: a new approach of clinical neurosciences]

Rev Neurol (Paris). 1991;147(1):1-16.
[Article in French]

Abstract

Genetically determined diseases with neurological expression are frequent. Recent progress in molecular biological techniques, particularly the availability of markers distributed throughout the whole human genome, has given birth to the concept of reverse genetics, with consists in localizing the gene responsible for a disease, then identifying it and its corresponding protein. This approach is illustrated by the studies that led to the localization of the gene responsible for Huntington's chorea on the short arm of chromosome 4 and the identification of dystrophic, the abnormal gene product in Duchenne's and Becker's muscular dystrophies. These discoveries have medical repercussions, leading to predictive tests or new therapies. However, predictive medicine raises ethical issues that are largely debated.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Animals
  • Chromosome Mapping
  • Humans
  • Molecular Biology*
  • Nervous System Diseases / genetics*
  • Nervous System Diseases / physiopathology
  • Nervous System Diseases / therapy
  • Neurosciences* / trends