AQA GCSE Combined Science: Trilogy Biology Paper 2 (Higher), 2020: Question 5
11 marks · Standard Demand difficulty · Extended Answer
Complete Punnett squares and explain probabilities for sex inheritance and cystic fibrosis, then evaluate two embryo screening methods for choosing embryos without CF.
Practise this questionQuestion
Question text
05 This question is about inheritance.
Humans have 23 pairs of chromosomes in each body cell.
One pair of chromosomes determines sex.
05.1 Complete Figure 5.
[2 marks]
Figure 5
Female
X X
Male
05.2 In some families all children are the same sex.
Give the reason why.
[1 mark]
Cystic fibrosis (CF) is an inherited disorder.
05.3 A man and a woman do not have CF.
The man and the woman have a child who has CF.
Draw a Punnett square diagram to find the probability that their next child will
have CF.
Use the symbols:
T = dominant allele
t = recessive allele
Draw a ring around the genotype of any children with CF.
[4 marks]
Probability =
Embryo screening for CF can be done by two methods.
Method 1
• The woman becomes pregnant by sexual intercourse.
• After 10 weeks of pregnancy a fine needle is inserted into the uterus.
• A sample of the fluid surrounding the embryo is taken.
• The DNA of the embryo is tested for CF.
*17* The screening is done free by specialist hospitals for couples who are at risk of having
a child with CF.
There is a small risk of miscarriage.
Method 2
• The couple use In Vitro Fertilisation (IVF) to produce a small number of embryos.
• Each embryo is tested for CF.
• One or two embryos without CF are implanted in the woman’s uterus.
In 2017 the success rate for having a baby by IVF for women under 35 years
was 30%
IVF is a stressful, invasive procedure.
In most UK areas the free public health service does not provide IVF for all women
asking for it.
05.4 Suggest three reasons for choosing Method 1 instead of Method 2.
[3 marks]
05.5 Suggest one advantage of Method 2.
[1 mark]
Mark scheme
Show the mark scheme
AO /
Question Answers Extra information Mark
Spec. Ref.
05.1 (male gametes) X and Y 1 AO1
all offspring correct allow correct offspring from 1 AO2
incorrect gametes
4.6.1.6
Female
X X
X XX XX
Male
Y XY XY
05.2 It is (50%) chance if sperm cells allow each / every child / baby / 1 AO2
which fertilised the egg has X pregnancy has a 50% chance of 4.6.1.6
(or Y) chromosome being male or female (so can be 4.6.1.4
– OMBINED SCIENCE:all same sex) TRILOGY – –
05.3 both parents shown as 1 AO2
heterozygous
allow correct derivation from 1
derivation correct to show 1 AO2
unaffected, 2 carriers and 1 incorrect gametes
affected offspring.
Woman
T t
T TT Tt
Man
t Tt tt
tt identified as offspring with CF 1
AO2
correct ratio / probability from 1 AO3
their derivations of tt e.g. 1:3, 1
in 4, 25%, 0.25 4.6.1.5
4.6.1.4
05.4 any three from: 3 AO3
4.5.3.5
• does not need IVF which is
4.6.1.5
stressful / invasive
• higher chance of successful
pregnancy as risk of
miscarriage is low compared
to (30%) success rate of IVF
• the test is freely available
allow method 2 is not available
to all couples who want it
• the test can be carried out
even once the mother is
– OMBINED SCIENCE: TRILOGY – – JUNE 2020
pregnant
05.5 any one from: 1 AO3
• child will (definitely) not have 4.5.3.5
CF 4.6.1.5
• do not need to consider
termination
• it is a way to have a child
if couples are having fertility
problems
Total 11
How to answer it
Inheritance, Sex Chromosomes and CF
What this question tests
You need to know how sex is determined by chromosomes, how to complete Punnett squares, and how to work out the probability of an inherited disorder. It also tests simple evaluation skills: comparing two screening methods and choosing the better option for a situation.
Question 05.1 — Complete Figure 5
💡 Key knowledge
- Females have sex chromosomes XX .
- Males have sex chromosomes XY .
- Egg cells always carry X .
- Sperm cells carry either X or Y .
✅ Correct answers
Male gametes: X and Y
Offspring in the Punnett square:
- XX
- XX
- XY
- XY
Mark point 2: all four offspring cells correct.
🧠 Exam technique
- Read the parent chromosomes first before filling the grid.
- Write one gamete on each row/column label.
- Combine one chromosome from each parent in every box.
❌ Common errors
- Writing XX or YY as sperm.
- Forgetting that the egg can only carry X .
- Putting the chromosomes in the wrong boxes.
Question 05.2 — Why can all children in a family be the same sex?
✅ Correct answer
There is a 50% chance that the sperm cell fertilising the egg has an X chromosome and a 50% chance it has a Y chromosome.
💡 Key knowledge
The mother always provides an X chromosome. The father’s sperm decides the sex of the baby.
🧠 Exam technique
- Say chance, probability, or 50%.
- Link it to the sperm carrying either X or Y .
❌ Common errors
- Saying the mother chooses the sex.
- Saying it is “random” without explaining why.
- Claiming each child must be different sex.
Question 05.3 — CF Punnett square and probability
💡 Key knowledge
- CF is caused by a recessive allele.
- If two unaffected parents have a child with CF, both parents must be carriers.
- Carrier genotype = Tt .
- Only tt children have CF.
✅ Correct answer
Parents: Tt × Tt
Punnett square outcomes:
- TT = unaffected
- Tt = carrier
- Tt = carrier
- tt = CF
Probability of next child having CF: 1 in 4 , or 25% , or 0.25
📐 Calculations / working
- Because they already have a child with CF, each parent must have one recessive allele.
- So each parent is Tt .
- Put the gametes across the top and side: T and t .
- Fill the square: TT , Tt , Tt , tt .
- Count the affected children: 1 out of 4.
Answer: 1/4 or 25%
❌ Common errors
- Using TT or Tt for the child with CF.
- Forgetting that both parents must be carriers.
- Giving the ratio but not linking it to the probability.
- Writing “one in three” instead of “one in four”.
What the examiner is looking for
The best answers show logical derivation: unaffected parents with an affected child means both parents are carriers, then the Punnett square gives one tt offspring out of four.
Question 05.4 — Why choose Method 1 instead of Method 2?
✅ Strong reasons you could use
- It does not need IVF, which is stressful and invasive.
- There is a higher chance of successful pregnancy because IVF only has about a 30% success rate.
- The test is free / freely available.
- It can be done once the mother is already pregnant.
💡 Key knowledge
Method 1 = testing the embryo during pregnancy using a sample from the uterus. Method 2 = IVF, testing embryos before implantation.
🧠 Exam technique
- You only need any three valid reasons.
- Make each point different.
- Use comparison words like safer, cheaper, more available, or higher success rate.
❌ Common errors
- Giving reasons that only describe Method 1, without comparing it to Method 2.
- Saying “IVF is bad” without explaining why.
- Repeating the same idea in different words.
Examiner insight
Students lost marks when they gave vague answers such as “it is better” or “it is easier”. Top answers were specific: they linked the choice to IVF being invasive, stressful, expensive or not freely available, and to the pregnancy being more likely to continue normally.
Question 05.5 — One advantage of Method 2
✅ Correct answers
- The child will definitely not have CF.
- You do not need to consider termination.
- It can help couples having fertility problems.
💡 Key knowledge
Method 2 uses IVF, so embryos can be tested before implantation and only embryos without CF are put into the womb.
🧠 Exam technique
Pick one clear advantage and explain it simply. The mark scheme accepts any one valid point.
❌ Common errors
- Saying Method 2 is cheaper or easier — this is not supported.
- Forgetting that embryos are screened before implantation.
- Not linking the advantage to CF screening.
Quick full-mark checklist
💡 Remember
- Sex chromosomes: female XX , male XY .
- Egg = X ; sperm = X or Y .
- CF is recessive; affected genotype is tt .
- Two unaffected parents with an affected child must both be Tt .
🧠 How to gain marks
- Use the correct genetic symbols.
- Show the working in the Punnett square.
- State probability as a fraction, percentage, or ratio.
- For explanation questions, give clear reasons, not just one-word answers.
Topics
Biology · B6: Inheritance, Variation and Evolution
Question and mark scheme from the AQA GCSE Combined Science: Trilogy examination, Biology Paper 2 (Higher), 2020. QuestionVault is an independent revision resource; questions remain the copyright of the awarding body.