Experiments were performed on an individual who has a genetic disorder affecting this particular gene, to investigate the basis of their disease. Unaffected individuals were compared to this affected individual as a control.A semi-quantitative RT-PCR experiment (left) was performed using an oligo-dT primer and a primer that covers the start codon of this gene.A western blot experiment (right) was also performed using an antibody to this protein.Based on these results what could be different in the gene of the affected individual, compared to the unaffected individual?Group of answer choicesMissense mutation affecting protein function.Nonsense mutation affecting protein function.Base pair deletion within an intron affecting splicing.Base pair substitution removing protein cleavage site.
Question
Experiments were performed on an individual who has a genetic disorder affecting this particular gene, to investigate the basis of their disease. Unaffected individuals were compared to this affected individual as a control.A semi-quantitative RT-PCR experiment (left) was performed using an oligo-dT primer and a primer that covers the start codon of this gene.A western blot experiment (right) was also performed using an antibody to this protein.Based on these results what could be different in the gene of the affected individual, compared to the unaffected individual?Group of answer choicesMissense mutation affecting protein function.Nonsense mutation affecting protein function.Base pair deletion within an intron affecting splicing.Base pair substitution removing protein cleavage site.
Solution
The question is asking for a possible difference in the gene of the affected individual compared to the unaffected individual based on the results of a semi-quantitative RT-PCR experiment and a western blot experiment.
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Missense mutation affecting protein function: This type of mutation results in a single nucleotide change which causes the coding for a different amino acid. This could potentially alter the function of the protein. However, without specific information about the results of the experiments, it's hard to definitively say this is the case.
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Nonsense mutation affecting protein function: This type of mutation changes a codon that specifies an amino acid into a stop codon, leading to a truncated protein. If the western blot showed a smaller than expected protein, this could be a possibility.
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Base pair deletion within an intron affecting splicing: This could potentially affect the way the gene is spliced, and therefore the resulting protein. If the RT-PCR experiment showed an unexpected banding pattern, this could be a possibility.
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Base pair substitution removing protein cleavage site: This could result in a larger than expected protein if the protein is not being cleaved as it should be. If the western blot showed a larger than expected protein, this could be a possibility.
Without specific information about the results of the experiments, it's hard to definitively say which of these is the most likely. However, these are the potential effects each mutation could have.
Similar Questions
Given the initial results, what gene would you test first? Would this diagnosis affecttreatment
A nucleotide substitution that has no observable effect on the phenotype.Group of answer choicesmissense mutationinsertionmutationpoint mutationframeshift mutationdeletionsilent mutationnonsense mutation
A loss of one or more nucleotides from a gene.Group of answer choicespoint mutationsilent mutationnonsense mutationnucleotide substitutiondeletioninsertionmissense mutation
What is a mutation of a gene?
The mutations that cause genetic variation occur in th
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