Article
Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntington's disease loci.
Genetic testing - 1 Jan 2006
Falk M, Vojtísková M, Lukás Z, Kroupová I, Froster U
Abstract excerpt
Human neurodegenerative and neuromuscular disorders are associated with a class of gene mutations represented by expansion of trinucleotide repeats. DNA testing is important for the diagnosis of these diseases because clinical discrimination is complicated by their late onset and frequently overlapping symptomatology. However, detection of pathologic alleles expanded up to several thousand trinucleotides poses a...
Topics
- Alleles
- Electronic Data Processing
- Genetic Carrier Screening
- Genomic Instability
- Humans
- Huntingtin Protein
- Huntington Disease
- Molecular Diagnostic Techniques
- Molecular Probe Techniques
- Myotonic Dystrophy