GENE-MAPPING AND MUTATION ANALYSIS IN NEUROLOGICAL AND PSYCHIATRIC-DISORDERS

The mapping of the genes for inherited disorders like chorea Huntington, muscular dystrophy and fragile-X syndrome enables DNA diagnosis in affected families. The investigation of biochemical deficiencies, the genetic analysis of large families and the observation of rare chromosomal aberrations in affected patients are used in order to map and identify disease genes in the human genome. Subsequent elucidation of the gene structure is followed by direct mutation analysis in patients as well as the investigation of proteins involved in pathogenesis, thus providing the basis for causal therapies in these disorders.