You have been doing studies on a recessive genetically transmitted disease. You

Question

You have been doing studies on a recessive genetically transmitted disease. You have always suspected that a mutation within the coding region of a specific gene of interest reduces the activity of the protein and therefore causes the disease. You hypothesize this because you can test patient tissue and they seem to have unusually low activity levels of this protein. But, when you sequence both copies of the gene from a patient with the disease you are surprised that there is NOT a mutation in the coding region. So you do total protein isolations from tissue of healthy and diseased patients and when you run them on a SDS-PAGE gel and do a Western blot you find that the diseased patients simply express much less of this protein that healthy ones. Explain three ways this type of recessive disease could be caused without a mutation in a coding region.

Explanation / Answer

three ways which alter the geene expression can be :

1. Transcriptional regulation

2. post transcriptional modification

3. protein degradation.

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