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.
|Title of host publication||Bollettino - Lega Italiana contro l'Epilessia|
|Number of pages||6|
|Publication status||Published - 1989|
ASJC Scopus subject areas
- Clinical Neurology