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 question

Question

The question page is titled Question 1 and contains eight short parts about cystic fibrosis. It asks students to identify the cell part controlling movement of substances in and out of cells, name allele B as dominant, describe genotype Bb as heterozygous, complete a Punnett square for two parents both with genotype Bb, choose the chance of a child having cystic fibrosis from 0%, 25%, 50%, or 75%, identify embryo testing as screening, name a change in DNA as a mutation, and suggest one environmental cause of variation in humans. A simple Punnett square diagram is shown with Parent 1 across the top and Parent 2 down the side; one top gamete B, one side gamete B, one side gamete b, and one offspring box already filled with BB, with the remaining relevant boxes left blank for completion.
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 The mark scheme shows a table for Question 1 with answers and mark allocations for parts 01.1 to 01.8. Accepted answers are: cell membrane, dominant, heterozygous, completion of the Punnett square with the missing parental gamete b and offspring genotypes including Bb and bb, 25% for the probability, screening, mutation, and any one environmental cause of variation such as diet, behaviour, infection, or sunlight, with examples like scars, tattoos, smoking, hair dye, and air pollution allowed. The table gives 1 mark for each part except 01.4 which is worth 3 marks, for a total of 10 marks.

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

What this question tests

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.

Question 1 overview

💡 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

1 mark = 1 correct tick on 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

1 mark = 1 correct tick on 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

1 mark = 1 correct tick on 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.
Marks are awarded for correct gametes and correct offspring genotypes. The mark scheme allowed partial credit if some boxes were correct.

📐 Step-by-step

  1. Write the gametes from Parent 1: B and b.
  2. Write the gametes from Parent 2: B and b.
  3. 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%

1 mark = 1 correct tick on 25%.

📐 Step-by-step

  1. From the Punnett square in 01.4, the possible genotypes are BB, Bb, Bb, and bb.
  2. Cystic fibrosis is caused by the recessive genotype, so only bb is affected.
  3. There is 1 affected outcome out of 4.
  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

1 mark = 1 correct tick on 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

1 mark = 1 correct tick on 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
1 mark for one valid environmental cause. Descriptions and examples were allowed.

💡 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.