Article
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.
Nature genetics - 1 Jul 1995
Chong S S, McCall A E, Cota J, Subramony S H, Orr H T, Hughes M R, Zoghbi H Y
Abstract excerpt
Spinocerebellar ataxia type 1 is associated with expansion of an unstable CAG repeat within the SCA1 gene. Male gametic heterogeneity of the expanded repeat is demonstrated using single sperm and low-copy genome analysis. Low-copy genome analysis of peripheral blood also reveals somatic heterogen...
Topics
- Alleles
- Base Sequence
- Brain Chemistry
- DNA Primers
- Humans
- Leukocytes
- Male
- Minisatellite Repeats
- Molecular Sequence Data
- Mosaicism
- Oligodeoxyribonucleotides
- Organ Specificity
- Polymerase Chain Reaction
- Spermatozoa
- Spinocerebellar Degenerations