Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease that causes cysts in the...

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Biology

Autosomal dominant polycystic kidney disease (ADPKD) is a commongenetic disease that causes cysts in the kidneys that can lead tokidney failure. The most common gene mutated in this disease isPKD1. Imagine that you are researcher working on ADPKD anda doctor has provided you with biological samples from patient withADPKD. You have been tasked with identifying the mutation inPKD1 and then to test how this mutation affects proteinfunction. Use the links provided to research ADPKD andPKD1 along with what we learned in class to answer thefollowing questions.
1.Design an experiment to test the dysfunction of the mutantprotein.
a.What is your hypothesis?
b.What technique would you use and why?
c.What is information would the technique provide?
d.How could your experiment help in the treatment or preventionof the disease?

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4.3 Ratings (714 Votes)

a Hypothesis Mutation in PKD1 is related for polycystic kidney disease ADPKD b If we have the biological sample for ADPKD disease then to test whether PDK1 expression was downregulated in the pateint with ADPKD disease To See Answer

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