Term
in mytonic dystrophy, greater expansion occur when inherited from which parent?
b) inheritance pattern?
c) where does repeat occur?
d) Threshhold?
e) most sever case and # of repeats
F) what kind of mutation is it? |
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Definition
mother
b) A-D
c) 3' UTR
d) 50-100
e) congential myotonic dystrophy and >2000
f) gain of function |
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Term
which sex does fragile x effect more?
b) from which parent do repeats expand more?
c) inheritance pattern
d) type of muation? |
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Definition
a) males
b) females
c) x-r
d) loss of function |
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Term
What kind of mutation is the huntington's?
b) threshold
c) expansion mostly occurs from which parent?
d) relationship btwn aoo and # of repeats? |
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Definition
a) auto dominant
b) >40 ... 36-39 show reduced penetrance
c) paternal
d) inverse |
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Term
deletions in which arm of the x chromosome are worse for women?
which arm has the xic? |
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Definition
the p arm, it has more genes.
b) q arm |
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Term
which protein encoded on x chromosome is doubled in females blood. |
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Definition
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