Question

1.The relationship between the site at which a protein is expressed and the site of pathological change in a genetic disease may be unpredictable. In addition, the tissue that lacks the mutant protein may even be left unaffected by the disease. Give examples of this latter phenomenon and discuss them.

Answer 1

Ans - Tissue that lacks the mutant protein may even be left unaffected by the disease. For this case, example can be phenylketonuria.

In this inherited disorder, there is defect in the gene that creates an enzyme which is needed for the breakdown of phenylalanine.

Without this enzyme , there is a build up of phenylalanine in several body parts that causes disorders in those organs and tissues. But in those tissues in which there is no mutated protein, then that tissue is found to be unaffected.