ASPETTI METODOLOGICI DELL'ANALISI GENETICA MOLECOLARE NELLE MALATTIE EREDITARIE DEL SISTEMA NERVOSO

Translated title of the contribution: Current approaches in molecular genetics of neurologic diseases

A. Antonelli, M. Pandolfo, S. Di Donato

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Abstract

The great advances of molecular genetics made possible new approaches in the study of hereditary diseases of unknown biochemical defect. The methods of linkage analysis with polymorphic DNA markers allowed to localize the genes causing many of these disorders, with important clinical application in prenatal, presymptomatic, and carrier diagnosis. Also diseases in which a complex form of heredity determines a variable genetic risk, like many of the epilepsies, can be approached in this way. Once localized, disease genes may be cloned through a number of techniques, including genome walking, jumping, subtraction libraries, and cloning into yeast artificial chromosomes. The isolation of a disease gene permits to identify its product, define its function, and clarify the pathogenesis of the disorder, ultimately leading to new therapeutic approaches.

Original languageItalian
Title of host publicationBollettino - Lega Italiana contro l'Epilessia
Pages23-28
Number of pages6
Edition66-67
Publication statusPublished - 1989

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ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Antonelli, A., Pandolfo, M., & Di Donato, S. (1989). ASPETTI METODOLOGICI DELL'ANALISI GENETICA MOLECOLARE NELLE MALATTIE EREDITARIE DEL SISTEMA NERVOSO. In Bollettino - Lega Italiana contro l'Epilessia (66-67 ed., pp. 23-28)