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Mini 3 trinucleotide repeats
and associated diseases
6
Biology
Graduate
03/21/2010

Additional Biology Flashcards

 


 

Cards

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?

Definition

mother

 

b) A-D

 

c) 3' UTR

 

d) 50-100

 

e) congential myotonic dystrophy and >2000

f) gain of function

Term

which sex does fragile x effect more?

 

b) from which parent do repeats expand more?

c) inheritance pattern

d) type of muation?

Definition

a) males

 

b) females

c) x-r

d) loss of function

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?

Definition

a) auto dominant

 

b) >40 ... 36-39 show reduced penetrance

 

c) paternal

 

d) inverse

Term

deletions in which arm of the x chromosome are worse for women?

 

which arm has the xic?

Definition

the p arm, it has more genes.

 

b) q arm

Term
which protein encoded on x chromosome is doubled in females blood.
Definition
steroid sulphatase
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