Article
Genes with triplet repeats: a new class of mutations causing neurological diseases.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Jan 1994
Plassart E, Fontaine B
Abstract excerpt
Microsatellites, simple tamdem repeats of 2 to 4 nucleotide sequences, are widely distributed throughout the genome. Trinucleotide repeats are found every 300 to 500 kb. Recently, a new type of mutation was described involving a specific expansion of triplets within or in close proximity to a gene. Expanded triplets have been found in the genes causing six different neurological disorders: fragile X syndrome...
Topics
- DNA
- Female
- Fragile X Syndrome
- Humans
- Huntington Disease
- Male
- Muscular Atrophy, Spinal
- Mutation
- Myotonic Dystrophy
- Nervous System Diseases
- Repetitive Sequences, Nucleic Acid
