AQA AS Level Biology Paper 2, June 2024: Question 7
8 marks · Medium difficulty · Short Answer
Explain the causes and consequences of Edwards' syndrome, select an appropriate statistical test, and explain how a ventricular septal defect causes higher blood pressure in the lungs.
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Question text
07.1 Edwards’ syndrome is a condition resulting from an extra chromosome 18.
A chromosome mutation in the second meiotic division is the most frequent cause of
Edwards’ syndrome.
Explain how a chromosome mutation in the second meiotic division could result in an
extra chromosome 18.
In your answer, name the type of chromosome mutation which would result in the
extra chromosome.
[2 marks]
07.2 Complete trisomy 18 is the most common type of Edwards’ syndrome. This occurs
when all the cells of the body have an extra chromosome 18.
Explain why all the cells of the body have an extra chromosome 18.
[2 marks]
07.3 Mosaic trisomy 18 is another type of Edwards’ syndrome. This occurs due to a
chromosome mutation after fertilisation.
In mosaic trisomy, the body has cells with an extra chromosome 18 and cells with the
correct number of chromosomes.
Explain how cells with different numbers of chromosomes are produced in mosaic
trisomy.
[1 mark]
07.4 The age of the female parent is a factor linked to the risk of a child having
Edwards’ syndrome.
Which statistical test should be used to test whether this link is statistically significant?
Tick ( ) one box.
[1 mark]
Correlation coefficient
Chi-squared
Student’s t-test 18
07.5 A ventricular septal defect (VSD) is a common feature of Edwards’ syndrome.
A VSD is a hole in the wall between the two ventricles of the heart. A VSD can cause
higher blood pressure in the lungs.
Explain how a VSD can cause higher blood pressure in the lungs.
[2 marks]
Mark scheme
Show the mark scheme
Question Marking Guidance Mark Comments
1. Chromatids do not separate;
2. Non-disjunction; 2 1. Accept
07.1 ‘chromosomes’ for
(2 x
chromatids but reject
AO2)
homologous
chromosomes.
1. Extra chromosome in gamete/egg/sperm/zygote 1. Accept mutation for
2 extra chromosome.
OR
07.2 (2 x
All cells derived from a single cell/zygote;
AO2)
2. (Body cells) produced by mitosis;
Cells with extra chromosome (are produced) from
cells with mutation 1
07.3 OR (1 x
Cells with correct number (of chromosome are AO2)
produced) from cells without mutation;
Automarked question – Correlation coefficient; 1
07.4 (Box 1) (1 x
Answer key: A – Correlation coefficient AO2)
1. (More) blood moves from left to right ventricle
(as left ventricle has thicker muscle);
2. Greater volume of blood to lungs 2
07.5 (2 x
AO2)
OR
(Higher blood pressure) in pulmonary artery;
How to answer it
Edwards' Syndrome: Cell Division & Heart Physiology
This multi-topic question connects genetic variation and cell division to human organ system physiology and data interpretation:
- Meiotic Non-Disjunction: Understanding the mechanism of non-disjunction specifically in meiosis II versus meiosis I.
- Embryonic Cell Division: How mitotic replication preserves genetic mutations across an entire organism or generates mosaic tissues.
- Statistical Analysis in Biology: Selecting appropriate statistical tests for continuous vs categorical associations.
- Mammalian Heart Structure & Pressure: Explaining pressure differentials between left and right ventricles and consequences of structural defects (VSD).
Non-Disjunction in Meiosis II
Explaining chromosome mutation leading to an extra chromosome 18
✅ Mark Scheme Requirements
- Mark 1: Sister chromatids do not separate (in anaphase II).
- Mark 2: Non-disjunction.
💡 Key Knowledge: Meiosis I vs Meiosis II
- Meiosis I: Homologous chromosome pairs separate. Failure here = non-disjunction of homologous pairs.
- Meiosis II: Centromeres divide and sister chromatids separate. Failure here = non-disjunction of chromatids.
- Because the prompt specifies the second meiotic division, you must name chromatids!
❌ Common Errors
- Writing "homologous chromosomes do not separate" — this directly contradicts the second division condition and awards 0 marks.
- Forgetting to explicitly name the mutation: "non-disjunction".
🧠 Exam Technique
Always circle the phase given in the stem: "second meiotic division". Link phase to structure: 1st = Homologous pairs; 2nd = Chromatids.
Complete Trisomy 18 Origin
Why all body cells carry the extra chromosome
✅ Mark Scheme Requirements
- Mark 1: The mutation / extra chromosome is present in the gamete (egg/sperm) OR in the zygote / all cells are derived from a single cell (zygote).
- Mark 2: All subsequent body cells are formed by mitosis.
💡 Key Knowledge
Fertilisation of an abnormal gamete (n + 1 = 24) with a normal gamete (n = 23) forms a zygote with 47 chromosomes (trisomy). Because mitosis produces genetically identical daughter cells, every single cell that develops from that zygote inherits the extra chromosome.
❌ Common Errors
- Mentioning meiosis instead of mitosis for the growth of body cells.
- Failing to mention that all cells originate from the fertilised egg / zygote.
Mosaic Trisomy 18
Origin of mixed cell populations post-fertilisation
✅ Mark Scheme Requirements
- Cells with an extra chromosome are produced by mitosis from cells containing the mutation.
OR
Cells with the normal/correct chromosome number are produced from cells without the mutation.
💡 Key Knowledge
In mosaicism, fertilisation creates a normal diploid zygote (or trisomic zygote), but an error in mitosis occurs after fertilisation in only one cell lineage during embryonic development. That mutated cell clones itself, producing a patch (mosaic) of abnormal cells alongside normal cells.
Selecting the Correct Statistical Test
Testing maternal age vs risk of Edwards' syndrome
✅ Correct Answer
☑ Correlation coefficient (Box 1)
🧠 Exam Technique: Which Test When?
- Correlation coefficient (Spearman's rank): Tests for a significant relationship/association between two continuous variables (e.g., age and incidence risk).
- Student's t-test: Tests for a significant difference between two independent mean values.
- Chi-squared (χ²): Tests for differences between observed and expected frequencies in categorical data.
Ventricular Septal Defect (VSD) & Lung Pressure
Explaining how a hole in the septum increases pulmonary blood pressure
✅ Mark Scheme Requirements
- Mark 1: (More) blood moves/shunts from the left ventricle to the right ventricle (because the left ventricle has thicker muscular wall / contracts with higher pressure).
- Mark 2: This sends a greater volume of blood to the lungs
OR causes higher blood pressure in the pulmonary artery.
💡 Key Knowledge: Pressure Gradients in the Heart
- The left ventricle wall has much thicker myocardium to pump blood against systemic resistance throughout the entire body.
- Therefore, left ventricular systolic pressure (~120 mmHg) is much higher than right ventricular systolic pressure (~25 mmHg).
- A hole in the intervening septum causes blood to flow down its pressure gradient from left to right, overloading pulmonary circulation.
❌ Common Errors & Trap Warnings
- Incorrect direction: Stating blood moves from right to left. Remember: left ventricle has much higher pressure!
- Vague volume statements: Saying "blood goes to lungs" without specifying greater volume or higher pressure in the pulmonary artery.
- Confusing the pulmonary artery (carries blood to lungs from RV) with the pulmonary vein.
🧠 Anatomy Checklist for 2/2
Always state cause (left has thicker muscle → higher pressure pushes blood to right) and consequence (increased volume forced into pulmonary artery / lungs).
Topics
Biology · Practical skills · 3.2 Cells · 3.3 Organisms exchange substances with their environment · 3.4 Genetic information, variation and relationships between organisms · Data analysis
Question and mark scheme from the AQA AS Level Biology examination, Paper 2, June 2024. QuestionVault is an independent revision resource; questions remain the copyright of the awarding body.