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 question

Question

The question page is headed 'This question is about inheritance' and contains five linked parts, numbered 05.1 to 05.5, worth a total of 11 marks. Part 05.1 shows a partially completed Punnett square for sex determination with 'Female' across the top containing X and X, and blank male gamete boxes at the left; students must complete the offspring combinations. Part 05.2 asks why in some families all children are the same sex. Part 05.3 states that cystic fibrosis is an inherited disorder and asks students to draw a Punnett square using T for the dominant allele and t for the recessive allele for two unaffected parents who already have a child with CF, identify any children with CF, and calculate the probability the next child will have CF. The lower half of the page describes two embryo screening methods in bullet points: Method 1 uses natural conception followed by sampling fluid around the embryo after 10 weeks and DNA testing, with a small risk of miscarriage; Method 2 uses IVF, tests each embryo, implants one or two embryos without CF, notes a 30% success rate for women under 35 in 2017, and says IVF is stressful, invasive, and not freely available to all. Parts 05.4 and 05.5 ask for reasons to choose Method 1 and one advantage of Method 2.
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 The mark scheme is a table with columns for question number, answers, extra information, marks, and AO/specification reference. For 05.1 it awards one mark for male gametes X and Y and one mark for correct offspring in the Punnett square, showing XX, XX, XY, XY. For 05.2 it accepts that each sperm has a 50% chance of carrying X or Y, so each pregnancy has a 50% chance of being male or female. For 05.3 it requires both parents to be heterozygous, a correct Punnett square showing TT, Tt, Tt, tt, identification of tt as having CF, and a probability such as 1 in 4, 25%, 0.25, or 1:3 from affected to unaffected. For 05.4 it credits any three reasons such as avoiding IVF because it is stressful or invasive, a higher chance of successful pregnancy than IVF, free availability, or being possible once already pregnant; for 05.5 it credits one advantage of Method 2 such as the child definitely not having CF, not needing to consider termination, or helping couples with fertility problems.

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.

Overall exam focus: genetics recall + Punnett squares + giving reasons

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 1: correct male gametes.
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

Top marks come from showing the parent genotypes, the completed grid, identifying tt , and stating the probability clearly.

📐 Calculations / working

  1. Because they already have a child with CF, each parent must have one recessive allele.
  2. So each parent is Tt .
  3. Put the gametes across the top and side: T and t .
  4. Fill the square: TT , Tt , Tt , tt .
  5. 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.