Article
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.
American journal of human genetics - 1 Jul 1996
Rubinsztein D C, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman J J, Chotai K, Connarty M, Crauford D, Curtis A, Curtis D, Davidson M J, Differ A M, Dode C, Dodge A, Frontali M, Ranen N G, Stine O C, Sherr M, Abbott M H, Franz M L, Graham C A, Harper P S, Hedreen J C, Hayden M R
Abstract excerpt
Abnormal CAG expansions in the IT-15 gene are associated with Huntington disease (HD). In the diagnostic setting it is necessary to define the limits of the CAG size ranges on normal and HD-associated chromosomes. Most large analyses that defined the limits of the normal and pathological size ran...
Topics
- Adult
- Aged
- Aged, 80 and over
- Female
- Humans
- Huntington Disease
- Male
- Middle Aged
- Minisatellite Repeats
- Mutation