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Alteration of the sequence of bases in DNA can alter the structure of proteins (A-level only)

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Question 3

Pyruvate kinase deficiency is an inherited metabolic disorder in humans caused by mutations in the PKLR PKLR\,PKLR gene. This gene encodes the enzyme pyruvate kinase, which is vital for maintaining ATP production via glycolysis in red blood cells.

Define the term gene mutation and explain how a mutation in the PKLR PKLR\,PKLR gene can:

  • have no effect on the primary structure of the encoded pyruvate kinase polypeptide
  • lead to a non-functional enzyme that reduces the survival rate of red blood cells.
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Alteration of the sequence of bases in DNA can alter the structure of proteins (A-level only) Questions

  1. A Level
  2. /Biology
  3. /Alteration of the sequence of bases in DNA can alter the structure of proteins (A-level only)