Question 3 You are doing genetic studies on a family that has several members with a...

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Biology

Question 3 You are doing genetic studies on a family that hasseveral members with a particular disease. You identify a gene witha one base pair difference (C→T) between the patients (T) and ahealthy relative (C). This gene encodes a protein that acts as anenzyme in cellular metabolism.

(A) Describe two ways in which a C→T mutation in the DNA couldcause a loss-of-function disruption in a protein.

(B) Describe how it is possible that a loss-of-function mutationcan be dominant to wild-type

(C) Describe three potential consequences of a loss-of-functionmutation in the protein described in (A). (Answer could be at acellular or organismal level.)

(D) Describe two ways in which a C→T mutation in the DNA couldcause a gain-of-functiondisruption in a protein.

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A A CT transition mutation could cause a loss of function disruption in the following ways Introduction of a prematurestop codon A CT mutation could convert the CAA codon which encodes Glutamine to TAA which is a stop codon This mutant gene would produce a truncated nonfunctional protein Introduction of an Aminoacid substitution A CT mutation could convert the CGG codon which encodes Arginine to TGG which encodes Tryptophan These two Amino acids differ enough for there to be a change in the conformational structure of    See Answer
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