Article
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.
Nature genetics - 1 Oct 1993
Goldberg Y P, Kremer B, Andrew S E, Theilmann J, Graham R K, Squitieri F, Telenius H, Adam S, Sajoo A, Starr E
Abstract excerpt
Huntington's disease (HD) is associated with expansion of a CAG repeat in a novel gene. We have assessed 21 sporadic cases of HD to investigate sequential events underlying HD. We show the existence of an intermediate allele (IA) in parental alleles of 30-38 CAG repeats in the HD gene which is gr...
Topics
- Adult
- Age of Onset
- Alleles
- Base Sequence
- DNA Primers
- Female
- Fragile X Syndrome
- Humans
- Huntington Disease
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Myotonic Dystrophy
- Pedigree
- Repetitive Sequences, Nucleic Acid
- Sex Characteristics