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Kaplan Qbank USMLE



Author12 Posts
  #1

1) Which diseases have to do with frameshift mutations?

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  #2

alpha thalassemia and cri-du-chat syndrome :?:

  #3

duchenne

  #4

Hi Mil1717,

What's the correct answer? Thanks.

  #5

Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex
omenns syndrome,bloom syndrome :?:

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  #6

Iam sorry.
Its muscular dystrophy( duchenne and becker's)

  #7

hi! accdg to Kaplan notes (Biochem)2002 ed.p.284
Duchennes is frameshift mutation thats why its more severe than
Beckers which is an "in-frame" mutation.
keep posting and answering q. thanks smiling face

  #8

both duchene and becker are frame shifts, but there are 4 bases added in duchenee, therefore worse than becker with 3 bases addition.

  #9

in a sense, I think I am wrong if I say Becker is frame shift... 3 bases added but no frame shift. Only addition and 'in frame'

  #10

cystic Fibrosis
alpha and beta thalassemia

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Smell the coffee! "Is That an Osler move??"

  #11

also ABO blood groupings is an example of frame shift mutations

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Smell the coffee! "Is That an Osler move??"

  #12

I didn't even knew that :cry:
thanks to you all
I think iam very poor in genetics.
Will study :roll:







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