RNA Expression, Splicing, and Nucleotide Expansion Flashcards

1
Q

Clinical features of Huntington’s

A

Chorea…dementia

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2
Q

Huntington’s dz pathology

A

Subcorticol degeneration, initially centered in the striatum

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3
Q

Huntington’s mutation

A

Dominant - HHT Chromosome 4

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4
Q

Huntington dz protein found in the

A

Nucleus

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5
Q

Huntington’s dz caused by expansion

A

Of track of glutamines close to N-terminus

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6
Q

Expansion vs. contraction

A

Expansion on new strand

Contraction on old strand

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