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 questionQuestion
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
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.
Part (a): Cell division that makes gametes
✅ Correct answer
meiosis
💡 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.
Part (b): Why sexual reproduction causes variation
✅ Correct answers
You need two reasons. Acceptable answers include:
- Gametes / eggs / sperm are not genetically identical.
- There is mixing of genetic information / genes / DNA from both parents.
💡 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.
Part (c): Describing genotype Dd
✅ Correct answer
heterozygous
💡 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.
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 )
- 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
- Write the parental genotypes: Dd and dd .
- Work out the gametes:
- Dd → D and d
- dd → d and d
- Fill in the Punnett square by combining one allele from each parent.
- Count the offspring with the dominant allele D .
- 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.
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.
💡 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.