Article
A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats.
The New England journal of medicine - 19 May 1994
Kremer B, Goldberg P, Andrew S E, Theilmann J, Telenius H, Zeisler J, Squitieri F, Lin B, Bassett A, Almqvist E
Abstract excerpt
BACKGROUND: Huntington's disease is associated with an expanded sequence of CAG repeats in a gene on chromosome 4p16.3. However, neither the sensitivity of expanded CAG repeats in affected persons of different ethnic origins nor the specificity of such repeats for Huntington's disease as compared...
Topics
- Adult
- Alleles
- Chromosomes, Human, Pair 4
- DNA
- Diagnosis, Differential
- Humans
- Huntington Disease
- Mutation
- Oligodeoxyribonucleotides
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid
- Sensitivity and Specificity