HERITABLE TRINUCLEOTIDE REPEATS AND NEUROLOGICAL DISORDERS

Authors
Citation
Bs. Shastry, HERITABLE TRINUCLEOTIDE REPEATS AND NEUROLOGICAL DISORDERS, Experientia, 50(11-12), 1994, pp. 1099-1105
Citations number
66
Categorie Soggetti
Multidisciplinary Sciences
Journal title
ISSN journal
00144754
Volume
50
Issue
11-12
Year of publication
1994
Pages
1099 - 1105
Database
ISI
SICI code
0014-4754(1994)50:11-12<1099:HTRAND>2.0.ZU;2-T
Abstract
In the past 3 years, seven human neurological disorders have been foun d to be associated with an abnormal number of unstable trinucleotide r epeats within exons or non-expressed regions of a gene. These forms of mutations are called dynamic mutations. The expansion in copy number of trinucleotide repeats may represent a large number of hereditary di sorders. The correlation between the length of the repeated size and t he disease severity and variable onset has provided some genetic expla nation for a phenomenon called anticipation. However, there are numero us questions which cannot be explained by anticipation. Many other fac tors such as genomic imprinting and variable DNA methylation may also contribute to the puzzling features of these phenotypes.