RNA Expression, Splicing, and Nucleotide Expansion Flashcards
1
Q
Clinical features of Huntington’s
A
Chorea…dementia
2
Q
Huntington’s dz pathology
A
Subcorticol degeneration, initially centered in the striatum
3
Q
Huntington’s mutation
A
Dominant - HHT Chromosome 4
4
Q
Huntington dz protein found in the
A
Nucleus
5
Q
Huntington’s dz caused by expansion
A
Of track of glutamines close to N-terminus
6
Q
Expansion vs. contraction
A
Expansion on new strand
Contraction on old strand