AQA GCSE Combined Science: Trilogy Biology Paper 2 (Higher), 2023: Question 1

11 marks · Standard Demand difficulty · Short Answer

Describe meiosis and inheritance in humans, then use a Punnett square to determine the probability of polydactyly and explain advantages of embryo screening.

Practise this question

Question

An exam question page with five parts about human sexual reproduction and inherited disorders. Part 01.1 asks for the name of the cell division that produces egg cells and sperm cells, worth 1 mark. Part 01.2 asks for two reasons why sexual reproduction causes variation in offspring, worth 2 marks. The middle text introduces polydactyly as an inherited disorder, says the allele D is dominant, and that dd does not cause polydactyly. Part 01.3 asks what word describes genotype Dd, worth 1 mark. Part 01.4 asks a genetics problem: a person with genotype Dd and a person with genotype dd plan to have a child, and the student must determine the probability the child will have polydactyly, complete a Punnett square diagram shown as a blank grid, and identify any offspring genotype with polydactyly, worth 5 marks. Part 01.5 asks for two advantages of embryo screening, worth 2 marks.
Question text

01 Sexual reproduction in humans involves the production of egg cells and sperm cells.

01.1 Name the type of cell division that produces egg cells and sperm cells.

[1 mark]

01.2 Sexual reproduction produces offspring that are genetically different from each other.

Give two reasons why sexual reproduction causes variation in the offspring.

[2 marks]

Polydactyly is an inherited disorder.

The allele for polydactyly is dominant, D.

A person with two copies of the allele d will not have polydactyly.

01.3 A person with the genotype DD is homozygous.

What word describes the genotype Dd?

[1 mark]

01.4 A person with the genotype Dd and a person with the genotype dd plan to have

a child.

Determine the probability that the child will have polydactyly.

You should:

• complete the Punnett square diagram

*03* • identify any offspring genotype that would have polydactyly.

[5 marks]

Probability that the child will have polydactyly =5

01.5 Embryos can be screened for the alleles that cause inherited disorders.

Give two advantages of embryo screening.

[2 marks]

Mark scheme

Show the mark scheme The mark scheme lists the accepted answer for 01.1 as meiosis. For 01.2 it accepts that gametes are not genetically identical and that there is mixing of genetic information, genes, or DNA from two parents, with a note that mutations can gain credit if needed. For 01.3 the correct word is heterozygous. For 01.4 it shows gamete genotypes D and d from the Dd parent and d and d from the dd parent, with offspring genotypes Dd, Dd, dd, dd; Dd is identified as having polydactyly, and the probability is 0.5, 50%, 1 in 2, 1:1, or 1/2. For 01.5 it accepts any two advantages such as finding out if the embryo has an inherited disorder, preparing for the baby, deciding whether to continue the pregnancy, or reducing the number of people with inherited disorders over time.

Question 1

AO /

Question Answers Extra information Mark

Spec. Ref.

01.1 meiosis allow phonetic spelling 1 AO1

4.6.1.1

4.6.1.2

AO /

Spec. Ref.

01.2 gametes / eggs / sperm are not allow gametes / eggs / sperm 1 AO1

(genetically) identical are (genetically) different 4.6.1.1

allow cells produced by meiosis 4.6.1.2

are not (genetically) identical

(there is) mixing of genetic allow genetic information / 1

information / genes genes / DNA from each parent

/ DNA ignore gametes fuse unqualified

or

genetic information / genes / ignore two parents unqualified

DNA from two / both parents

if no other mark awarded allow 1

mark for mutations

AO /

Spec. Ref.

01.3 heterozygous ignore dominant / recessive 1 AO2

4.6.1.4

AO /

Spec. Ref.

01.4 (parents gamete genotypes allow in either position in 1 AO2

shown) Punnett square

D d and d d

(possible offspring genotypes allow correct derivation of 2 AO2

correctly derived) offspring genotypes from

Dd Dd dd dd incorrect gametes 7

allow 3 correct offspring

genotypes for 1 mark

correct identification of Dd if derivation not correct and 1 AO2

offspring as having polydactyly shows DD and Dd, both must be

identified as having polydactyly

probability must match derived if no derivation shown allow 0.5 1 AO3

offspring genotypes or 50% or 1 in 2 or

1:1 or ½

do not accept 1:2 4.6.1.4

allow correct probability from 4.6.1.5

incorrectly derived offspring

AO /

Spec. Ref.

01.5 any two from: 2 AO3

• can find out if the embryo has allow can find out if the embryo 4.6.1.5

an (inherited) disorder has inherited disease

ignore can find out if the embryo

has disease(s)

• can prepare for baby (with the allow description of preparation

disorder) for the baby eg access to early

treatment

• can decide whether to allow choice of (in vitro)

continue with the pregnancy embryos (to be implanted)

• fewer people with (inherited)

disorders over time

Total Question 1 11

How to answer it

Genetics, Meiosis and Polydactyly

What this question tests

This question checks your knowledge of sexual reproduction, meiosis, variation, genetic terms such as heterozygous , how to complete a Punnett square, how to work out probability from genotypes, and the advantages of embryo screening. To score well, use exact biology vocabulary and make sure your probability matches the offspring genotypes you have shown.

Question 01.1

Part (a): Cell division that makes gametes

✅ Correct answer

meiosis

1 mark for naming the correct type of cell division.

💡 Key knowledge

  • Egg cells and sperm cells are gametes.
  • Gametes are produced by meiosis.
  • Meiosis halves the chromosome number.

❌ Common errors

  • Writing mitosis instead of meiosis.
  • Giving a description instead of the actual term.
Question 01.2

Part (b): Why sexual reproduction causes variation

✅ Correct answers

You need two reasons. Acceptable answers include:

  1. Gametes / eggs / sperm are not genetically identical.
  2. There is mixing of genetic information / genes / DNA from both parents.
1 mark for saying the gametes are genetically different. 1 mark for saying genetic information from two parents is mixed.

💡 Key knowledge

  • Sexual reproduction involves two parents.
  • Each parent passes on genetic information.
  • Because gametes are different, offspring inherit different combinations of alleles.

🧠 Exam technique

  • For 2 marks, give two separate points.
  • Do not just say “the gametes fuse” — that is too vague on its own.
  • Use the phrase genetic information from both parents to make the second mark secure.

❌ Common errors

  • Saying only “two parents” with no mention of genes or DNA. The mark scheme says this is not enough on its own.
  • Saying only “gametes fuse” without explaining mixing of genetic information.
  • Repeating the same idea twice in different words.
Question 01.3

Part (c): Describing genotype Dd

✅ Correct answer

heterozygous

1 mark for the correct genetic term.

💡 Key knowledge

  • DD = homozygous dominant
  • dd = homozygous recessive
  • Dd = heterozygous

❌ Common errors

  • Writing dominant or recessive. The mark scheme says these are ignored here.
  • Misspelling the key term so badly it is unclear.
Question 01.4

Part (d): Punnett square and probability of polydactyly

Cross: Dd × dd

✅ Correct answers

Parent gametes: from Dd you get D and d ; from dd you get d and d .

D d
d Dd dd
d Dd dd

Offspring with polydactyly: Dd

Probability child will have polydactyly: 1/2 (also acceptable: 0.5 , 50% , 1 in 2 , 1:1 )

Marks available:
  • 1 mark for correct parent gametes
  • 2 marks for correct offspring genotypes
  • 1 mark for identifying which genotype has polydactyly
  • 1 mark for correct probability matching the Punnett square

💡 Key knowledge

  • D is the dominant allele for polydactyly.
  • A dominant allele shows in the phenotype if it is present once or twice.
  • So Dd has polydactyly, and dd does not.

📐 Step-by-step method

  1. Write the parental genotypes: Dd and dd .
  2. Work out the gametes:
    • Dd → D and d
    • dd → d and d
  3. Fill in the Punnett square by combining one allele from each parent.
  4. Count the offspring with the dominant allele D .
  5. 2 out of 4 offspring are Dd , so probability = 2/4 = 1/2 = 50% .

🧠 Exam technique

  • Always show the gametes first. This often secures an easy mark.
  • Then fill in all four boxes carefully.
  • Finally, state which genotype shows the condition and link that to the probability.
  • Top answers are clear, methodical, and make the final probability match the Punnett square shown.

❌ Common errors

  • Putting D and d as the gametes for dd . This is wrong — dd can only make d gametes.
  • Saying the probability is 1:2 . The mark scheme says do not accept 1:2.
  • Forgetting that Dd has polydactyly because D is dominant.
  • Giving the right probability but no working. You may lose marks for the Punnett square steps.
Question 01.5

Part (e): Advantages of embryo screening

✅ Correct answers

You need any two of the following:

  • It can find out if the embryo has an inherited disorder.
  • Parents can prepare for a baby with the disorder.
  • Parents can decide whether to continue with the pregnancy.
  • Over time, fewer people may have the inherited disorder.
2 marks total: 1 mark for each valid advantage.

💡 Key knowledge

  • Embryo screening looks for alleles linked to inherited disorders.
  • It gives information that can help parents and doctors make decisions.
  • Preparation could include planning support or early treatment.

🧠 Exam technique

  • Make your points clearly separate: write one advantage per line.
  • Use the wording inherited disorder to stay close to the mark scheme.
  • If you mention preparation, explain it briefly, for example access to early treatment.

❌ Common errors

  • Giving disadvantages instead of advantages.
  • Being too vague, for example “it helps the parents” without saying how.
  • Writing about non-inherited diseases instead of inherited disorders.

Quick full-mark model answers

✅ 01.1

Meiosis.

✅ 01.2

1. Gametes are not genetically identical.
2. Genetic information from both parents is mixed.

✅ 01.3

Heterozygous.

✅ 01.4

Gametes: D , d and d , d .
Offspring genotypes: Dd , Dd , dd , dd .
The offspring with polydactyly are Dd .
Probability = 1/2 .

✅ 01.5

1. It can find out if the embryo has an inherited disorder.
2. Parents can prepare for a baby with the disorder.

Examiner insight for the whole question

🧠 What strong answers did well

  • Used exact terms such as meiosis and heterozygous.
  • Explained variation using both different gametes and mixing of genes from both parents.
  • Completed the Punnett square logically and made the probability match the genotypes shown.
  • Gave two clear, separate advantages for embryo screening.

❌ Where students lost marks

  • Confusing meiosis with mitosis.
  • Using vague language like “they join together” instead of talking about genes or genetic information.
  • Making mistakes with gametes in the Punnett square.
  • Not recognising that a dominant allele means Dd shows the disorder.

Total marks for Question 1: 11

Topics

Biology · B6: Inheritance, Variation and Evolution

Question and mark scheme from the AQA GCSE Combined Science: Trilogy examination, Biology Paper 2 (Higher), 2023. QuestionVault is an independent revision resource; questions remain the copyright of the awarding body.