Ontology highlight
ABSTRACT:
SUBMITTER: Moncke-Buchner E
PROVIDER: S-EPMC134256 | biostudies-literature | 2002 Aug
REPOSITORIES: biostudies-literature
Nucleic acids research 20020801 16
Huntington's disease (HD) is a progressive neurodegenerative disorder with autosomal-dominant inheritance. The disease is caused by a CAG trinucleotide repeat expansion located in the first exon of the HD gene. The CAG repeat is highly polymorphic and varies from 6 to 37 repeats on chromosomes of unaffected individuals and from more than 30 to 180 repeats on chromosomes of HD patients. In this study, we show that the number of CAG repeats in the HD gene can be determined by restriction of the DN ...[more]