Control of Gene Expression
Mutations
2What 2 mutations could cause a shorter-than-normal polypeptide to be produced, and how would they do this?
Option 1:
- Deletion.
- Means a codon is missing, so an amino acid is missing from the polypeptide.
Option 2:
- Any type of mutation e.g. substitution.
- Could result in a premature stop codon.
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2024 A-Level Paper 3 Q5.1 (2 marks)
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How can an inversion mutation produce a non-functional enzyme? (4 points)
- The DNA base sequence being reversed.
- Causes a change in the primary structure of the protein/ the order of amino acids.
- This changes the hydrogen bonds/ ionic bonds/ disulfide bridges between the amino acids.
- Changing the tertiary structure.
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2025 A-Level Paper 2 Q4.1 (4 marks)
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Gene Expression
9Stem cell definition (2 points):
- An undifferentiated cell.
- That can divide an unlimited number of times.
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2010 A-Level Unit 5 Q6(a) (2 marks)
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What are 3 ways stem cells may cause harm to a patient?
- Stimulating an immune response.
- Differentiating into the wrong type of cells.
- Dividing uncontrollably, creating a possibly cancerous tumour.
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Not from a mark scheme, but useful content to know.
What two regions do all genes have surrounding them?
They all have a promoter region before the gene and a terminator region after the gene.
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2022 A-Level Paper 3 Q4.4 (2 marks)
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Describe how oestrogen affects transcription: (4 points)
- It binds to a receptor in the cytoplasm of target cells, forming an oestrogen-receptor complex.
- This complex then acts as a transcription factor.
- By binding to a promoter region on DNA.
- This causes RNA polymerase to bind to the DNA, increasing transcription.
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2020 A-Level Paper 2 Q2.3 (2 marks)
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2010 A-Level Unit 5 Q5(b)(i) (2 marks)
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2014 A-Level Unit 5 Q7(a) (2 marks)
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Describe how the production of ‘antisense’ SUT1 mRNA in a cell would reduce the expression of the SUT1 gene, which codes for ‘sense’ SUT1 mRNA: (4 points)
- Antisense is complementary to ‘sense’ mRNA.Note: you had to infer this just from the use of the words ‘sense’ and ‘antisense’ btw, so remember this terminology.
- Antisense mRNA would bind to sense mRNA.
- Ribosomes would be unable to bind to the sense mRNA.
- This causes less translation of the sense mRNA and less production of the SUT1 protein.
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2021 A-Level Paper 3 Q6.2 (4 marks)
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Definition of epigenetics: (2 points)
- Heritable changes in gene function.
- Without changes to the base sequence of DNA.
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Not from a mark scheme, but useful content to know.
How can increased methylation lead to cancer? (5 points)
- If methyl groups are added to a tumour suppressor gene.
- Transcription factors will be unable to bind to the promoter region of the gene.
- The next point is that RNA polymerase will be prevented from binding to the gene.
- This means the transcription of tumour suppressor genes would get inhibited, meaning less tumour suppressor proteins would be produced.
- This leads to uncontrolled cell division.Note: this is a key phrase you want to use in any cancer question.
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2018 A-Level Paper 2 Q2.2 (3 marks)
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Describe how a mutation in a tumour suppressor gene could lead to cancer: (3 points)
- A change in the base sequence of a tumour suppressor gene could cause non-functional tumour suppressor proteins to form.
- This means they won’t be able to inhibit the mitosis of cells.
- This leads to uncontrolled cell division.
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2022 A-Level Paper 2 Q10.1 (3 marks)
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2018 A-Level Paper 2 Q2.2 (3 marks)
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2015 A-Level Unit 5 Q3(a)(i) (2 marks)
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2010 A-Level Unit 5 Q6(c)(ii) (2 marks)
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4 ways drugs could reverse the epigenetic changes that cause cancer:
- The drugs could increase methylation of oncogenes.
- The drugs could decrease methylation of tumour suppressor genes.
- The drugs could decrease acetylation of the histones of oncogenes.
- The drugs could increase acetylation of the histones of tumour suppressor genesNote: make sure you always talk about the acetylation of ‘histones’
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2022 A-Level Paper 2 Q10.5 (3 marks)
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Genome Projects
5Definition of the genome:
The complete set of coding and non-coding DNA within a cell.Note: including the DNA found in chloroplasts and mitochondria.
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2022 A-Level Paper 3 Q4.1 (2 marks)
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2023 A-Level Paper 1 Q6.1 (2 marks)
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Definition of the proteome:
The full range of proteins that a cell is able to produce.
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2022 A-Level Paper 3 Q4.1 (2 marks)
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2023 A-Level Paper 1 Q6.1 (2 marks)
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5 new techniques that allow the comparison of genes to be completed rapidly:
- Computerised DNA sequencing.
- Computerised DNA fingerprinting.
- PCR amplifies DNA.
- Gel electrophoresis can separate DNA fragments.
- DNA probes can be used to identify alleles.
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2024 A-Level Paper 2 Q10.4 (3 marks)
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What 2 things have prevented knowledge of the genome being used to determine the proteome of large organisms?
- The presence of non-coding DNA.
- Regulatory genesNote: in case you need a third, you may be able to mention post-translational modification of proteins.
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2025 A-Level Paper 2 Q8.2 (2 marks)
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How does determining the genome of a pathogen allow a vaccine to be developed? (2 points)
- Determining the genome allows scientists to identify the proteins the pathogen would produce (its proteome).
- This allows them to then identify potential antigens that can be used in the vaccine.
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2020 A-Level Paper 3 Q03.3 (2 marks)
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Gene Technologies
24What is added to a gene before it is inserted into a plasmid and why?
Promoter and terminator regions are added to the gene to allow RNA polymerase to bind to and translate the gene once it has been successfully inserted.
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Specimen A-Level Paper 2 Q5.3 (1 marks)
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Describe how a specific gene can be inserted into a plasmid: (3 points)
- Cut the plasmid with a restriction endonuclease.Note: the same enzyme that’s specific to the gene, of course.
- This means that the plasmid and gene have complementary sticky ends.
- Then add ligase to join the sticky ends together.
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2024 A-Level Paper 2 Q7.4 (2 marks)
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2020 A-Level Paper 2 Q9.1 (2 marks)
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2018 A-Level Paper 2 Q8.5 (2 marks)
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What is the purpose of a gene that codes for a protein that glows under UV light being added alongside the desired gene in genetic modification? (2 points)
- It acts as a marker gene that shows the desired gene has been successfully taken up.Note: use this wording - ‘successfully taken up’. Or say it allows the detection of the ‘genetically modified cells’.
- As only cells that show fluorescence contain the desired gene.
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2022 A-Level Paper 3 Q4.5 (1 marks)
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2012 A-Level Unit 5 Q5(b)(i) (2 marks)
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3 reasons bacteria are able to use human DNA to produce human proteins:
- DNA code is universal.
- The mechanism of transcription is universal.
- The mechanism of translation is universal.
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2022 A-Level Paper 3 Q4.2 (2 marks)
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3 reasons bacteria may not be able to use human DNA to produce every human protein:
- They cannot splice pre-mRNA so they cannot remove introns.
- They don’t have Golgi apparatus so cannot modify proteins.
- They may not have the transcriptional factors to carry out the transcription of human DNA into mRNA.
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2022 A-Level Paper 3 Q4.3 (1 marks)
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Why is a substance more able to enter cells if it combines with a hydrophobic substance? (3 points)
- It makes it lipid soluble.
- This means it can diffuse through the phospholipid bilayer.
- This means a channel/ carrier protein isn’t needed for its uptake.
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2021 A-Level Paper 2 Q7.2 (1 marks)
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2020 A-Level Paper 2 Q2.1 (2 marks)
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2 reasons it’s important that the GM gene is only expressed in the tissue it needs to be expressed in:
- It allows the protein to be harvested without harming the animal.
- The production of the protein in other cells may cause harm.
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Specimen A-Level Paper 2 Q5.4 (2 marks)
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Explanation for why inserting a gene too late into an egg will likely cause the offspring not have the desired characteristics: (2 points)
- Cell division has already occurred before the gene is added.
- This means the gametes do not receive the gene.
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2020 A-Level Paper 2 Q9.2 (2 marks)
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2 reasons most transgenic embryos that are implanted in wombs do not result in live births:
- The DNA is often damaged, interfering with the proteins produced and causing the embryo to die.
- The embryo’s antigens are often foreign, meaning they get attacked by the immune system of the mother.
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2012 A-Level Unit 5 Q5(c)(i) (2 marks)
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When testing the effect of a GM gene that affects silk production in spiders, why would scientists inject plasmids containing the gene into the eggs of the spiders, rather than the adult spiders? (2 marks)
- When injected into the egg, the plasmid will get into most/all the cells of the spider.
- This means it will get into the cells responsible for producing silk.Note: this shows the importance of making it specific to the question being asked.
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Specimen A-Level Paper 2 Q5.1 (2 marks)
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Why does inserting an mRNA strand that is complementary to the mRNA strand being transcribed reduces the translation of that strand? (4 points)
- The strand being inserted is complementary to the strand being translated.Note: It didn’t say this in the question of course - I added it here as a reminder to always say it in any of these DNA technology questions.
- The strand being inserted binds to the strand being translated, forming double stranded mRNA.
- This means ribosomes are unable to bind.
- This prevents translation.
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Specimen As Paper 1 Q9.4 (4 marks)
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2021 A-Level Paper 3 Q6.2 (4 marks)
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Description of how the Polymerase Chain Reaction (PCR) is used to amplify a DNA fragment: (4 points)
- It requires DNA polymerase, primers, and DNA nucleotides.Note: I assume if you mentioned these throughout your answer you’d be fine.
- Heat to 95 degrees C to break hydrogen bonds and separate strands.Note: you had to name the specific temperature and talk about hydrogen bonds being broken.
- Reduce temperature (to 55 degrees C) so primers can bind/ anneal to the DNA strands.
- Increase temperature (to 72 degrees C) so DNA (taq) polymerase can join the nucleotides to form the strands.
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2021 A-Level Paper 2 Q8.1 (4 marks)
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Role of DNA polymerase in PCR:
It joins nucleotides to produce complementary strands of DNA.Note: even when discussing DNA technology, it is still important to be specific with what the enzymes do.
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2017 A-Level Paper 2 Q8.2 (1 marks)
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Explanation of why a variety of primers would be needed to amplify a variety of strands of RNA in PCR: (2 points)
- Complementary primers are needed for each RNA strand.
- Base sequences differ between RNA strands.
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2017 A-Level Paper 2 Q8.6 (2 marks)
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Describe how STRs (or any other DNA sequence) can be removed from a sample of DNA: (2 points)
- Restriction endonucleases.
- Cut DNA at specific base sequences/ recognition sites.Note: always mention the restriction endonucleases cutting DNA at specific base sequences.
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2023 A-Level Paper 2 Q9.1 (2 marks)
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Features of different proteins that allow them to be separated by gel electrophoresis: (3)
- They have different masses (due to having different numbers of amino acids).
- They are charged.
- They have different R groups.Note: I’m not really sure how the different R groups play a role, I’d just stick with the first two.
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2018 A-Level Paper 2 Q8.6 (2 marks)
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How to find the size of a DNA fragment in a sample:
Compare the distance it travels during gel electrophoresis with some DNA fragments of known size.
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2024 A-Level Paper 2 Q7.2 (2 marks)
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2019 A-Level Paper 2 Q8.4 (2 marks)
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DNA probe definition: (2 points)
- A short single strand of DNA.
- With complementary bases to a gene.
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2025 A-Level Paper 2 Q9.2 (2 marks)
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2019 A-Level Paper 2 Q8.1 (2 marks)
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Describe how a radioactively labelled DNA probe can be used to show that a cell contains a certain gene (DNA hybridisation explanation) (the SUT1 gene in this example) (5 points):
- Extract the cell’s DNA and add restriction endonucleases to create fragments of DNA after amplifying the DNA using PCR.
- Separate the fragments using electrophoresis.
- Treat the cell’s DNA to form single strands and expose its bases using a nylon membrane.
- The radioactive probe will bind with the gene via complementary base pairing as its specific base sequence is complementary to it.
- Use autoradiography to show the bound probe after washing away any unbound probes.
Key points from this:
- To use a DNA probe, remove the cell’s DNA, cut it up with restriction endonucleases, separate the DNA using gel electrophoresis, make the DNA single stranded, THEN add the DNA probe. Do not try to add the DNA probe to the cell and get it to bind with mRNA - apparently this isn’t how you’re meant to do it.
- Remember about electrophoresis for separating fragments once DNA has been cut with restriction endonucleases.
- You don’t need to know HOW to make DNA single stranded, but you do need to know that you need to make it single stranded so a DNA probe can bind (obvs).
- Autoradiography is the method for detecting radioactivity. Just saying to ‘use an X-ray’ wasn’t accepted. If the DNA probe were marked with a fluorescent gene you’d use UV light obvs.
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2021 A-Level Paper 3 Q6.1 (4 marks)
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3 ways you can analyse viral DNA:
- The polymerase chain reaction.
- DNA fingerprinting.
- Genome sequencingNote: mRNA and amino acid sequencing were rejected because viruses don’t produce mRNA (if they have DNA) or polypeptides.
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2020 A-Level Paper 3 Q3.2 (1 marks)
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2 ways comparison of genes can indicate that two groups are distinct genetic groups: (2 points each)
Option 1:
- Compare DNA base sequence.
- Distinct groups will have different DNA.
Option 2:
- Compare the banding of DNA fragments.Note: the ‘banding of DNA fragments’ refers to the patterns their DNA makes when it is analysed using gel electrophoresis.
- Distinct groups will have different banding patterns.
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2024 A-Level Paper 2 Q10.4 (3 marks)
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4 arguments for genetically screening for a rare, deadly, inheritable disease:
- Some people may be carriers of the disease.
- It prevents suffering and death.
- It allows for informed choices about having children.
- The cost of screening may be cheaper than the cost of treatment
Note: additional one I’d add: It may allow the person to make lifestyle changes to prevent them getting the disease.
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2024 A-Level Paper 3 Q5.4 (3 marks)
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The 2 roles of primers in PCR:
- The provide the starting sequence for DNA polymerase.
- They prevent the original DNA strands rejoining.
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2023 A-Level Paper 2 Q09.2 (2 marks)
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What is the role of reverse transcriptase in DNA technology?
It produces complementary DNA (cDNA) from mRNA.Note: this cDNA can then often be used to produce certain proteins if it is inserted into a plasmid.
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2017 A-Level Paper 2 Q08.1 (1 marks)
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