Notes/Biology/Paper 4/Genetic Technology
CAIEA Level9700§19

Genetic Technology

The seven-step pipeline of recombinant DNA technology; sources of genes for transfer (gene banks, cDNA, chemical synthesis); the enzymes and vectors of the toolbox — restriction enzymes, ligase, plasmids, DNA polymerase, reverse transcriptase; the role of promoters and marker genes (including insertional inactivation); CRISPR/Cas9 as a gene-editing tool (with chemical synthesis used to make the guide RNA); the polymerase chain reaction (PCR) and the role of Taq polymerase; gel electrophoresis as a sizing technique; DNA microarrays and sequence databases; recombinant proteins — insulin, factor VIII and ADA; genetic screening for BRCA1, BRCA2, Huntington's and cystic fibrosis; gene therapy for SCID and inherited eye diseases (LCA2, LCA10); the ethics of genetic screening and gene therapy; GM crops and animals — herbicide-resistant soybean, insect-resistant cotton, and AquAdvantage salmon; and the implications of GMOs in food production.

240 min read 12 sub-topics
183
question parts
2021–2025 · 37 papers
13 marks
per paper
≈ 13% of the paper
2.3/3
avg difficulty
moderate
#2
most examined
of 8 topics by marks

In the 50 years since the first recombinant DNA was made in a test tube in 1973, genetic technology has moved from a research curiosity to a clinical and agricultural mainstay. The 2018 Nobel Prize in Chemistry went to Frances Arnold (for directed enzyme evolution) and George Smith and Gregory Winter (for phage display of peptides and antibodies); the 2020 Nobel in Chemistry went to Emmanuelle Charpentier and Jennifer Doudna for CRISPR/Cas9 — the gene-editing tool that has, in less than a decade, become the standard way to make a precise change to a DNA sequence. Cambridge 9700 §19 is the topic that turns these research headlines into a syllabus: what a recombinant plasmid actually carries, what each enzyme in the toolbox does, how a single DNA molecule becomes a billion in a PCR machine, how a gel separates DNA by size, what an array of fluorescent spots on a slide means, how a yeast is persuaded to make a human protein, how a child is tested for a mutation before being given an antibiotic that could deafen them, how a virus is used to put a working copy of a gene into a child's retina, and how a salmon is given a Chinook growth-hormone gene so it reaches market size in half the time. The topic is in three movements. The first (§19.1) is the toolbox — the seven-step pipeline of recombinant DNA technology, the sources of the gene, the enzymes and vectors (restriction enzymes, ligase, plasmids, DNA polymerase, reverse transcriptase), the promoters and marker genes, the gene-editing tool (CRISPR/Cas9 — with chemical synthesis used to make the guide RNA), the polymerase chain reaction, gel electrophoresis, and microarrays and sequence databases. The second (§19.2) is medicine — recombinant proteins (insulin, factor VIII, ADA), genetic screening (BRCA1, BRCA2, Huntington's, cystic fibrosis), gene therapy (SCID, inherited eye diseases), and the ethics of screening and therapy. The third (§19.3) is agriculture and ethics — GM crops and animals (herbicide-resistant soybean, insect-resistant cotton, AquAdvantage salmon) and the implications of GMOs in food production.

The route through the note is: §01 the seven-step pipeline of recombinant DNA technology; §02 sources of the gene to be transferred (gene banks, cDNA, chemical synthesis); §03 the enzymes and vectors — restriction enzymes, ligase, plasmids, DNA polymerase and reverse transcriptase; §04 promoters and marker genes; §05 gene editing — CRISPR/Cas9 (with chemical synthesis used to make the guide RNA); §06 the polymerase chain reaction and Taq polymerase; §07 gel electrophoresis, microarrays and sequence databases; §08 recombinant proteins — insulin, factor VIII and ADA; §09 genetic screening for BRCA1, BRCA2, Huntington's and cystic fibrosis; §10 gene therapy for SCID and inherited eye diseases; §11 the ethics of genetic screening and gene therapy; §12 GM crops and animals and the implications of GMOs in food production. The closing checklist and formula sheet follow the sections.

Across 2021–2025 §19 is the second-heaviest A2 topic on Paper 4 — 183 leaf parts, 494 marks, mean difficulty 2.34, across 37 papers. The MS rewards four things in this topic: the process (the seven steps of recombinant DNA technology, the four steps of a PCR cycle, the workflow of a CRISPR/Cas9 edit, the steps of an ex-vivo gene therapy), the calculation (the size of a PCR product from primer positions, the size of a band from a DNA ladder, the time-of-flight of a fragment in a gel), the method (which enzyme does what, which vector carries which feature, which control rules out which artefact), and the application to a named case — ARSA (MLD), MT-RNR1 (gentamicin-induced deafness), CEP290 (LCA10), insulin and factor VIII, BRCA1 (breast cancer), ADA (SCID), RPE65 (LCA2), AquAdvantage salmon, herbicide-resistant soybean and insect-resistant cotton. The diagrams in this note are hand-drawn SVGs (bio16-* keys); wherever the original paper prints a real figure (an ARSA gene map, an MT-RNR1 gel, a CEP290 splicing diagram, a RPE65 clinical-trial diagram, a LCA10 CRISPR schematic) the note uses the question-bank image_path from the original question and does not redraw.

Before you start you should be able to
  • The structure of DNA and the role of mRNA from AS §1 and §6 — §01 and §03 both depend on knowing that DNA is double-stranded and that genes are transcribed into mRNA and then translated into protein

  • The structure of proteins from AS §1 — §08's discussion of recombinant insulin, factor VIII and ADA all assume the student knows that a gene codes for a polypeptide

  • Enzymes and active sites from AS §3 — restriction enzymes and DNA polymerase are proteins that catalyse specific reactions on DNA

  • The lac operon and gene regulation from AS §6 — §04's discussion of promoters and marker genes is the applied version of the promoter/operator logic the earlier note introduced

  • The genetic code and the effect of mutations from AS §6 / a2-05 — §05's discussion of how a corrected gene restores the normal protein product assumes the student knows the codon → amino-acid relationship and the effect of substitution, addition and deletion mutations

  • The inheritance patterns and sex linkage from a2-05 — §09's discussion of genetic screening for X-linked and autosomal conditions (BRCA1, Huntington's, cystic fibrosis) builds on the inheritance patterns the earlier note introduced

By the end of this page you can
  • define the term recombinant DNA technology

  • describe and explain the stages of recombinant DNA technology, limited to: isolation of the target gene, insertion of the target gene into a vector, introduction of the vector into a host organism, selection of the host organism that has taken up the gene, replication of the gene and translation of the gene to produce the recombinant protein

  • describe the methods used to obtain the target gene, limited to: isolating the target gene from a donor organism, producing the target gene from mRNA using reverse transcriptase, synthesising the target gene from nucleotides

  • describe and explain the use of restriction enzymes to cut DNA at specific base sequences

  • describe and explain the use of ligase to join DNA fragments together

  • describe the role of plasmids as vectors in recombinant DNA technology

  • describe and explain the use of DNA polymerase and reverse transcriptase to produce DNA

  • describe the role of promoters in recombinant DNA technology

  • describe the role of marker genes in recombinant DNA technology, including insertional inactivation

  • outline the principles of gene editing using the CRISPR/Cas9 system or a similar tool, limited to: a guide RNA complementary to a target sequence binds to the target sequence, a nuclease (Cas9) cuts the DNA at the target sequence, the cut is repaired by cellular mechanisms, with the possibility of a template DNA being inserted

  • describe the polymerase chain reaction (PCR) and its use to produce large quantities of DNA for analysis, including the role of Taq polymerase

  • describe and explain the process of gel electrophoresis, limited to: the pieces of DNA are placed into wells in a gel, the gel is immersed in a buffer and a voltage is applied, negatively charged DNA fragments move towards the anode, smaller fragments move further

  • outline how microarrays can be used to identify genes, or alleles, present in a sample, or to compare gene expression in different cells or tissues, including the use of fluorescently labelled cDNA

  • describe the use of DNA sequence databases to identify unknown DNA sequences, and outline the principles of bioinformatics

  • describe the production of recombinant human proteins, limited to: insulin, factor VIII and adenosine deaminase (ADA)

  • outline the principles of genetic screening for BRCA1, BRCA2, Huntington's disease and cystic fibrosis

  • outline the principles of gene therapy, limited to: the use of viruses to deliver functional alleles of genes, as in the treatment of severe combined immunodeficiency (SCID) and inherited eye diseases

  • discuss the ethical implications of genetic screening and gene therapy

  • outline the production of genetically modified organisms (GMOs) in agriculture, including: herbicide-resistant soybean, insect-resistant cotton and AquAdvantage salmon

  • discuss the implications of the use of GMOs in food production

01

Recombinant DNA technology — the seven-step pipeline

Syllabus requirement · §19.1

define the term recombinant DNA technology. Describe and explain the stages of recombinant DNA technology, limited to: isolation of the target gene, insertion of the target gene into a vector, introduction of the vector into a host organism, selection of the host organism that has taken up the gene, replication of the gene and translation of the gene to produce the recombinant protein.

Why "recombinant"?

Recombinant DNA is any DNA molecule that has been made by joining together DNA from two different sources. The word recombinant simply means "recombined" — pieces of DNA that did not exist together in nature have been combined in the test tube. The 2025 M/J /42 Q5(c) is a typical 1-mark definition question: "explain why the DNA involved in the production of recombinant human insulin is termed recombinant DNA". The MS gives the mark for stating that the DNA is made by joining together (DNA from) two different sources / species / organisms — for insulin, the human insulin gene joined to a yeast or bacterial plasmid.

Recombinant DNA technology is the set of techniques used to make a recombinant DNA molecule, get it into a living cell, and have the cell read the new gene and make the protein. The MS in 2024 O/N /42 Q3(a) gives the standard definition: the deliberate modification of the genome of an organism by the transfer of a gene from one organism to another, so that the recipient organism produces the gene product.

The point of the technology is production — once the gene is in the host cell, every time the host divides it copies the new gene, and the host's ribosomes read the new gene and make the protein. A fermenter of yeast making human insulin is a more efficient source of insulin than extracting it from the pancreases of pigs and cattle.

recombinant DNA technology — the seven steps1isolate gene fromdonor DNA2cut withrestriction enzyme3insert intoplasmid vector4add promoterand marker gene5introduce intohost cell6select transformedcells7express protein /new traitsteps 1–4 happen in the test tube; step 5 puts the recombinant plasmid into a living host; step 6 is selectiononly the transformed cells survive; step 7 is expression of the new protein

Fig 19.1 The seven-step pipeline of recombinant DNA technology. From isolating the gene in a donor cell to expressing the new protein or trait in a host organism. Steps 1–4 happen in the test tube; step 5 puts the recombinant plasmid into a living host; step 6 is selection (only the transformed cells survive); step 7 is expression of the new protein.

The seven steps, one at a time

Step 1 — isolate the gene. The first job is to get a copy of the gene you want. §02 covers the three named methods: isolating the gene from a donor organism's DNA, copying it from mRNA using reverse transcriptase, and synthesising it from nucleotides.

Step 2 — cut the plasmid with a restriction enzyme. Restriction enzymes (see §03) recognise a specific short sequence of bases (a recognition sequence or restriction site) and cut the DNA at that site, leaving either blunt ends or short single-stranded overhangs (sticky ends). Cutting the plasmid with the same enzyme as the gene leaves matching sticky ends, so the gene can slot in.

Step 3 — ligate the gene into the plasmid. DNA ligase (see §03) joins the sugar–phosphate backbones of the gene and the plasmid, sealing the recombinant plasmid. The result is a small circular DNA molecule that contains the new gene, a promoter (so the gene can be transcribed), a marker gene (so transformed cells can be selected — see §04), and an origin of replication so the plasmid can be copied inside the host cell.

Step 4 — add promoter and marker gene to the plasmid. In practice the promoter and marker gene are already carried on the plasmid before the gene is inserted. The plasmid is engineered to carry a multiple-cloning site (a short sequence with restriction sites for several different enzymes), a strong promoter upstream of that site, and a marker gene (often an antibiotic-resistance gene or a fluorescent gene such as GFP). The student is expected to know what each of these does and why each is needed (see §04).

Step 5 — introduce the recombinant plasmid into a host cell. This is called transformation in bacteria and yeast, and transfection in animal cells. The most common methods are heat-shock (a brief 42 °C pulse that makes the bacterial membrane permeable to the plasmid), electroporation (a brief electric pulse that opens transient pores in the membrane), and viral delivery (for animal cells — see §10). Not every cell takes up a plasmid; the next step selects the ones that did.

Step 6 — select the cells that have taken up the plasmid. The marker gene is the trick here. If the marker is an antibiotic-resistance gene, the transformed cells are grown on a medium containing the antibiotic; cells without the plasmid are killed, cells with the plasmid survive. If the marker is a fluorescent gene, the transformed cells glow under UV light and can be sorted by a fluorescence-activated cell sorter (FACS). §04 covers the marker-gene mechanism in detail, including insertional inactivation — placing the gene of interest inside the marker gene so that successful insertion switches off the marker, giving a second layer of selection.

Step 7 — replicate and express. The transformed cells are grown in a fermenter on an industrial scale. As the cells divide, the plasmid (and the gene it carries) is copied, and the cell's ribosomes read the gene and make the protein. For insulin, the protein is harvested from the culture medium and purified. For a GM crop, the seed of the transformed plant is harvested and the gene (and the trait it confers) is inherited by the next generation.

Why this pipeline matters in the exam

Almost every "outline the process" question on §19.1 expects the student to name the seven steps in the right order and to give the role of each tool or feature. The 2024 O/N /42 Q3(a) asked for a definition of genetic engineering (3 marks); the 2025 M/J /42 Q5(a) asked for a description of producing recombinant human proteins (3 marks); the 2025 O/N /42 Q5(a) was on the reagents required for PCR (4 marks — covered in §06). Across the 2021–2025 window, ~30 marks a year go to "outline the steps" or "explain the process" questions on this topic. The safe seven steps, in order, are: (1) isolate / obtain the gene; (2) cut the plasmid and the gene with the same restriction enzyme; (3) ligate the gene into the plasmid; (4) introduce the recombinant plasmid into a host cell; (5) select the cells that have taken up the plasmid (marker gene); (6) allow the cells to divide and copy the gene; (7) harvest the protein.

Explaining why the DNA in recombinant human insulin is 'recombinant' (a 1-mark definition)

9700/42 M/J 2025 Q5(c)1 mark

A number of diseases in humans can be treated using recombinant human proteins. These are produced by recombinant DNA technology.

Explain why the DNA involved in the production of recombinant human insulin is termed recombinant DNA.

Show full working
  1. 1

    The DNA is made by joining together (DNA from) two different sources / species / organisms. The recombinant insulin DNA is a hybrid — the human insulin gene joined to a yeast (or bacterial) plasmid. The "two different sources" framing is what the MS awards the mark for; the MS rejects the looser "the DNA has been changed" answer.

    Mark 1. The MS gives the mark for the join of DNA from two different sources.

Answer

The DNA is termed recombinant because it is made by joining together DNA from two different sources / species — a human gene (the insulin gene) joined to a plasmid (from yeast or bacteria).

On a 1-mark definition of recombinant DNA, the safe phrasing is 'DNA made by joining together DNA from two different sources / species / organisms'. The MS credits the join of two sources; the MS rejects the looser 'the DNA has been changed' answer because that does not specify the two-source structure.

Your turn — the recombinant DNA pipeline

  1. 13 marks

    Explain what is meant by genetic engineering.

    Stuck? Show hint

    Three marks: (1) deliberate / intentional modification of the genome; (2) by the transfer of a gene (or allele) from one organism to another; (3) so that the recipient organism produces the gene product.

    Show solution
    1. 1

      Deliberate modification of the genome. Genetic engineering is the intentional change to the genome of an organism. The MS credits the word "deliberate" (or a synonym such as "intentional" / "planned") because the definition has to rule out natural mutation.

      Mark 1. The MS credits the deliberate modification.

    2. 2

      By the transfer of a gene / allele from one organism to another. A gene (or allele) is moved from a donor organism to a recipient organism. The MS uses "one organism to another" — the recipient and donor do not have to be from different species, but the two-source structure is what makes the DNA recombinant.

      Mark 2. The MS credits the transfer of a gene.

    3. 3

      So that the recipient organism produces the gene product. The point of the technology is expression — the recipient cell reads the new gene and makes the protein. The MS credits the outcome clause.

      Mark 3. The MS credits the outcome.

    Answer

    Genetic engineering is the deliberate modification of the genome of an organism by the transfer of a gene (or allele) from one organism to another, so that the recipient organism produces the gene product.

  2. 23 marks

    Place the seven steps of recombinant DNA technology in the correct order:

    • A. add promoter and marker gene to the plasmid
    • B. select the host cells that have taken up the plasmid
    • C. isolate the target gene from the donor organism
    • D. cut the plasmid and the target gene with a restriction enzyme
    • E. ligate the target gene into the plasmid
    • F. introduce the recombinant plasmid into a host cell
    • G. harvest the recombinant protein
    Stuck? Show hint

    The correct order is C → D → E → A → F → B → G.

    Show solution
    1. 1

      First two steps: C (isolate the gene) and D (cut with restriction enzyme). The gene is isolated from the donor; the plasmid and the gene are cut with the same restriction enzyme so that they share the same sticky ends.

      Mark 1. The MS credits C → D in the correct order at the start.

    2. 2

      Middle steps: E (ligate) and A (add promoter and marker). DNA ligase joins the gene into the plasmid; in practice the promoter and marker gene are already on the plasmid, but the gene must be inserted in the right place — downstream of the promoter.

      Mark 2. The MS credits E → A in the correct order in the middle.

    3. 3

      Last three steps: F (introduce into host) and B (select) and G (harvest). The recombinant plasmid is introduced into the host cell; the host cells that have taken up the plasmid are selected using the marker gene; the protein is harvested from the culture.

      Mark 3. The MS credits F → B → G in the correct order at the end.

    Answer

    C → D → E → A → F → B → G. (isolate the gene → cut with restriction enzyme → ligate into plasmid → add promoter and marker gene → introduce into host cell → select transformed cells → harvest the protein.)

Practise recombinant DNA technologyReal past-paper questions · Recombinant DNA and genetic engineering

The rest of this note

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Can you do all of these?

  • Define recombinant DNA as DNA made by joining together DNA from two different sources / species / organisms

  • Define recombinant DNA technology as the deliberate modification of the genome of an organism by the transfer of a gene from one organism to another, so that the recipient organism produces the gene product

  • Name the seven steps of recombinant DNA technology in the correct order: (1) isolate the gene; (2) cut plasmid and gene with the same restriction enzyme; (3) ligate the gene into the plasmid; (4) add promoter and marker gene; (5) introduce into host cell; (6) select transformed cells; (7) harvest the protein

  • Name the three sources of a target gene: (1) isolation from a donor organism; (2) cDNA from mRNA via reverse transcriptase; (3) chemical synthesis from nucleotides

  • Explain why cDNA (not genomic DNA) is preferred for expression in a bacterial or yeast host — cDNA has no introns, and bacteria have no spliceosome

  • Describe the role of a restriction enzyme: cuts DNA at a specific recognition sequence, leaving short single-stranded sticky ends

  • Describe the role of DNA ligase: joins the sugar–phosphate backbones of two DNA fragments, sealing the recombinant plasmid

  • Describe the role of a plasmid: a small circular DNA molecule used as a vector to carry the new gene into the host cell and to replicate inside it

  • Describe the role of DNA polymerase: synthesises a new DNA strand using a DNA template (PCR extension; cDNA second strand)

  • Describe the role of Taq polymerase: a thermostable DNA polymerase from Thermus aquaticus that survives the 95 °C denaturation step of every PCR cycle

  • Describe the role of reverse transcriptase: synthesises a cDNA copy of an mRNA template

  • Describe the role of a promoter: a DNA sequence upstream of the gene that binds RNA polymerase, allowing the gene to be transcribed

  • Describe the role of a marker gene: a gene that gives the transformed cell a selectable phenotype (antibiotic resistance or fluorescence) so that the transformed cells can be selected

  • Describe insertional inactivation: placing the gene of interest inside the marker gene so that successful insertion disrupts the marker; cells with the recombinant plasmid are identified by their loss of the marker phenotype

  • Outline the principles of CRISPR/Cas9: a guide RNA complementary to the target binds to the target by complementary base-pairing, a Cas9 nuclease cuts the DNA at the target, the cell's repair mechanisms repair the cut, with the possibility of a template DNA being inserted

  • Distinguish gene editing (correct the mutation in situ) from gene addition therapy (give a new copy of the gene)

  • Describe PCR: a method for making many copies of a specific DNA sequence from a small starting amount; the three steps are denaturation (95 °C), annealing (~55 °C) and extension (72 °C); after n cycles, ~2ⁿ copies

  • Describe gel electrophoresis: DNA is negatively charged (phosphate groups), so it migrates toward the anode (positive electrode); smaller fragments move further through the gel matrix than larger ones; the DNA ladder is a set of fragments of known size used to estimate the size of sample bands

  • Outline how microarrays work: thousands of gene-specific probes are fixed to a slide; fluorescent cDNA is washed over the slide; a glowing spot = the gene is expressed in the sample

  • Outline how a DNA sequence database is used: the unknown sequence is entered into BLAST (or similar); the tool finds regions of similarity; the closest match identifies the unknown sequence

  • Describe the production of recombinant human insulin: mRNA from human pancreatic β-cells → cDNA via reverse transcriptase → cDNA inserted into a plasmid with a promoter and a marker gene → plasmid introduced into a yeast (or E. coli) host → transformed cells selected and grown in a fermenter → insulin harvested and purified

  • Give two advantages of recombinant human insulin over animal-derived insulin: no risk of pathogen transmission; identical amino-acid sequence to human insulin / unlimited supply

  • Outline the principles of genetic screening for BRCA1, BRCA2, Huntington's and cystic fibrosis: DNA sequencing (often after PCR amplification); identifies the specific mutation; the result is a diagnosis, a risk assessment or a prognosis

  • Outline the principles of gene therapy: a virus (usually AAV for in-vivo, lentivirus for ex-vivo) is used to deliver a functional copy of the gene into the patient's cells; the gene is integrated into the cell's genome and is expressed to produce a functional protein

  • Distinguish ex-vivo (cells taken out, modified, returned) from in-vivo (vector injected directly into the patient) gene therapy; the named conditions are SCID (ex-vivo) and LCA2 (in-vivo)

  • Discuss the ethical implications of genetic screening and gene therapy: autonomy / informed consent; confidentiality / discrimination; equity of access; reproductive decisions; no-treatment diseases (Huntington's)

  • Outline the production of herbicide-resistant soybean: a gene for glyphosate resistance from Agrobacterium tumefaciens is inserted into the soybean genome; the farmer can spray the field with glyphosate, killing weeds but not the crop

  • Outline the production of insect-resistant cotton: a Bacillus thuringiensis (Bt) Cry toxin gene is inserted into the cotton genome; the cotton produces the Bt toxin in its tissues; the Bt toxin kills the cotton bollworm larvae that feed on the cotton

  • Outline the production of AquAdvantage salmon: a Chinook salmon growth-hormone gene, controlled by an ocean pout antifreeze-protein promoter, is inserted into the Atlantic salmon genome; the salmon expresses the growth-hormone gene all year round and reaches market size in half the time

  • Discuss the implications of GMOs in food production: higher yield / lower cost; reduced pesticide use; reduced soil damage; concerns about human health (allergenicity / toxicity); concerns about the environment (gene transfer to wild relatives; superweeds; harm to non-target insects; escaped GM salmon); concerns about corporate control; concerns about labelling and consumer choice

Now do the questions
183 real Paper 4 parts from 2021–2025, sorted by difficulty, with mark schemes