AQA GCSE Combined Science: Trilogy Biology Paper 2 (Foundation), 2024: Question 1
10 marks · Standard Demand difficulty · Short Answer
Answer multiple-choice and short-answer questions about cystic fibrosis, cell structure, alleles and genotype, Punnett squares and probability, embryo screening, mutation, and environmental causes of variation.
Practise this questionQuestion
Question text
01 Cystic fibrosis is a genetic disorder.
01.1 Cystic fibrosis affects the movement of substances into and out of cells.
Which part of a cell controls the movement of substances into and out of the cell?
[1 mark]
Tick ( ) one box.
Cell membrane
Cytoplasm
Mitochondria
Cystic fibrosis is caused by a recessive allele, b.
01.2 What name is given to the allele B?
[1 mark]
Tick ( ) one box.
DNA
Dominant
Gene
01.3 Which term describes the genotype Bb?
[1 mark]
Tick ( ) one box.
Chromosome
Heterozygous
Phenotype 3
01.4 Two people plan to have a child.
*02* Both people have the genotype Bb.
Complete Figure 1 to show the possible genotypes of the child.
[3 marks]
Figure 1
01.5 What is the chance that a child of these parents will have cystic fibrosis?
Use Figure 1.
[1 mark]
Tick ( ) one box.
0% 25% 4 50% 75%
01.6 An embryo can be tested to find out its genotype.
What is the name of the testing process?
[1 mark]
Tick ( ) one box.
Genetic engineering
Screening
Selective breeding
01.7 Inherited disorders can be caused by changes in DNA.
What is the name of a change in DNA?
[1 mark]
Tick ( ) one box.
Genome
Helix
Mutation
01.8 Inheritance is one cause of variation in a population.
Environmental factors also cause variation in a population.
Suggest one environmental cause of variation in a human population.
Do not refer to inheritance or to changes in DNA in your answer.
[1 mark]
Mark scheme
Show the mark scheme
Question 1
AO /
Question Answers Extra information Mark
Spec. Ref.
01.1 cell membrane 1 AO1
4.1.1.2
4.6.1.5
AO /
Spec. Ref.
01.2 dominant 1 AO2
4.6.1.4
4.6.1.5
AO /
Spec. Ref.
01.3 heterozygous 1 AO2
4.6.1.4
AO /
Spec. Ref.
01.4 allow 1 mark for b correct 1 AO2
4.6.1.4
allow 2 marks for all 3 offspring 2 4.6.1.5
genotypes correctly derived
from gametes shown / given
allow 1 mark for 1 or 2 offspring
genotypes correctly derived
from gametes shown / given
derived genotypes must match
parental gamete if given
AO /
Spec. Ref.
01.5 25% response must match question 1 AO3
01.4 4.6.1.4
if no answer in question 01.4 4.6.1.5 7
allow 25%
AO /
Spec. Ref.
01.6 screening 1 AO1
4.6.1.5
AO /
Spec. Ref.
01.7 mutation 1 AO1
4.6.2.1
AO /
Spec. Ref.
allow descriptions
01.8 any one from: 1 AO2
• diet 4.6.2.1
• behaviour allow examples such as physical
damage, scars, tattoos, (body)
8 piercings, smoking, use of hair /
nail colourings / dye
• infection
• named environmental cause allow air pollution
of variation such as sunlight ignore climate unqualified
Total Question 1 10
How to answer it
Cystic Fibrosis: Inheritance and Variation
You need to recall core genetics facts: cell membrane function, dominant and recessive alleles, genotype words, Punnett squares, probability, screening, mutation, and environmental causes of variation. Most marks come from simple recall and using the correct genetics terms.
💡 Key knowledge
- The cell membrane controls movement of substances into and out of cells.
- A dominant allele is shown by a capital letter, such as B .
- Bb is heterozygous because the alleles are different.
- A mutation is a change in DNA.
🧠 Exam technique
- For multiple choice, pick the biology term that matches the definition exactly.
- For Punnett squares, make sure each parent's gametes are written correctly before filling the boxes.
- When asked for chance, read the completed square and convert to a percentage.
❌ Common errors
- Choosing cytoplasm instead of cell membrane in 01.1.
- Thinking B is a gene rather than a dominant allele.
- Writing phenotype when the question asks for heterozygous.
- Forgetting that cystic fibrosis is caused by the recessive allele b .
Part 01.1 — Cell structure
Which part of a cell controls movement of substances into and out of the cell?
✅ Correct answer
Cell membrane
💡 Key knowledge
The cell membrane is selectively permeable, so it controls what enters and leaves the cell.
❌ Common errors
Cytoplasm is the jelly-like material inside the cell, and mitochondria release energy. Neither controls movement in and out.
Part 01.2 — Alleles
Cystic fibrosis is caused by a recessive allele, b . What name is given to allele B ?
✅ Correct answer
Dominant
💡 Key knowledge
In GCSE genetics, a capital letter usually shows the dominant allele and a lowercase letter shows the recessive allele.
🧠 Exam technique
If the question gives you one allele as recessive, the opposite one in the pair is usually the dominant allele.
Part 01.3 — Genotype terminology
Which term describes the genotype Bb ?
✅ Correct answer
Heterozygous
💡 Key knowledge
- Heterozygous = two different alleles.
- Homozygous = two same alleles.
- Genotype = the alleles an organism has.
- Phenotype = the observable characteristic.
❌ Common errors
Students often chose phenotype because they mix up the word for the genes with the word for the feature shown.
Part 01.4 — Punnett square
Two people have genotype Bb . Complete the figure to show the possible genotypes of the child.
✅ Correct answer
- Each parent produces gametes B and b.
- Completed square gives: BB, Bb, Bb, bb.
📐 Step-by-step
- Write the gametes from Parent 1: B and b.
- Write the gametes from Parent 2: B and b.
- Combine letters in each box:
- B × B = BB
- B × b = Bb
- b × B = Bb
- b × b = bb
🧠 Exam technique
The top-mark responses showed all three offspring genotypes correctly derived from the gametes. Write the alleles clearly and keep the letters in the correct order.
❌ Common errors
- Writing b instead of B for one parent gamete.
- Forgetting to include both Bb outcomes.
- Mixing up the gametes and offspring boxes.
Part 01.5 — Probability from the Punnett square
What is the chance that a child of these parents will have cystic fibrosis?
✅ Correct answer
25%
📐 Step-by-step
- From the Punnett square in 01.4, the possible genotypes are BB, Bb, Bb, and bb.
- Cystic fibrosis is caused by the recessive genotype, so only bb is affected.
- There is 1 affected outcome out of 4.
- Convert to a percentage: 1/4 = 25%.
🧠 Exam technique
The mark scheme says the answer must match the Punnett square in 01.4. If your square is wrong, the chance may also be wrong. The final answer must be a percentage.
❌ Common errors
- Choosing 50% because there are two Bb boxes.
- Forgetting that only bb has cystic fibrosis.
- Not linking the probability to the completed diagram.
Part 01.6 — Testing embryos
An embryo can be tested to find out its genotype. What is the name of the testing process?
✅ Correct answer
Screening
💡 Key knowledge
Screening means testing to find out whether a person or embryo has a particular condition or allele.
❌ Common errors
Genetic engineering changes DNA, and selective breeding is choosing parents with desired characteristics. Neither means testing an embryo.
Part 01.7 — DNA changes
What is the name of a change in DNA?
✅ Correct answer
Mutation
💡 Key knowledge
A mutation is a change in the sequence of DNA. Mutations can be inherited if they occur in reproductive cells.
🧠 Exam technique
Look for the exact term the exam wants. Genome means all the genetic material, and helix describes DNA shape, not a change in DNA.
Part 01.8 — Environmental causes of variation
Suggest one environmental cause of variation in a human population.
✅ Correct answers
Any one of:
- diet
- behaviour
- infection
- sunlight
- air pollution
💡 Key knowledge
Environmental factors affect how a characteristic develops, even if the genes stay the same.
Examples accepted by the mark scheme included smoking, tattoos, piercings, hair or nail colouring, and disease/infection.
❌ Common errors
- Giving an inherited cause instead of an environmental one.
- Writing “climate” without a clearer explanation, which may be too vague.
- Talking about “changes in DNA” when the question says not to.
Top-mark summary
🧠 What full-mark answers did well
- Used the exact genetics terms: cell membrane, dominant, heterozygous, screening, mutation.
- Completed the Punnett square accurately from the parent genotypes.
- Linked the final probability to the completed square.
❌ Biggest traps
- Confusing genotype and phenotype.
- Using the wrong process name for embryo testing.
- Forgetting that cystic fibrosis is recessive.
Topics
Biology · B1: Cell Biology · B6: Inheritance, Variation and Evolution
Question and mark scheme from the AQA GCSE Combined Science: Trilogy examination, Biology Paper 2 (Foundation), 2024. QuestionVault is an independent revision resource; questions remain the copyright of the awarding body.