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Kaplan Qbank USMLE



Author6 Posts
  #1

A patient with normal level of Galactose 1 phosphate uridyl transferase, but no observable enzyme activity. What is the explanation ?

A. Gene deletion
B. Nonsensen mutation
C. Premature transcription termination
D. Promoter mutation
E. RNA splicing mutation

  #2

E. RNA splicing mutation ???

  #3

It is c: Premature transcription termination

  #4

I have no answer, any one can explain this

  #5

I believe the question is incorrect. Is from Q-Bank. It ask "...if you find enzyme "X" mRNA why there is not enzyme "X" activity?"
A non sense mutation is a mutation in the DNA that leads to a premature stop codon when the mRNA is being translated into protein. The mRNA would be translated correctly, but it will stop [rematurely as it is being translated, leading to a truncated -useless- protein.
A premature transcription termination sequence in DNA might result in a premature termination of the mRNA chain leading to no message(not in this case mRNA is present)

  #6

Yes, it is the correct q







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