Article
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.
Nature genetics - 1 Aug 1993
Snell R G, MacMillan J C, Cheadle J P, Fenton I, Lazarou L P, Davies P, MacDonald M E, Gusella J F, Harper P S, Shaw D J
Abstract excerpt
The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene in 440 Huntington's disease patients and 360 normal controls reveals a range of 30-70 repeats in affected individuals and 9-34 in normals. We find significant negative correlations between the number of repe...
Topics
- Adolescent
- Adult
- Age Factors
- Aged
- Base Sequence
- Female
- Genetic Variation
- Humans
- Huntington Disease
- Male
- Middle Aged
- Molecular Sequence Data
- Oligodeoxyribonucleotides
- Phenotype
- Polymerase Chain Reaction
- Reference Values
- Repetitive Sequences, Nucleic Acid