Name:

________________________

Gene mutation
Class:

________________________

Date:

________________________

Time: 57 minutes

Marks: 44 marks

Comments:

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Q1.
The Amish are a group of people who live in America. This group was founded by 30
Swiss people, who moved to America many years ago. The Amish do not usually marry
people from outside their own group.

One of the 30 Swiss founders had a genetic disorder called Ellis-van Creveld syndrome.
People with this disorder have heart defects, are short and have extra fingers and toes.
Ellis-van Creveld syndrome is caused by a faulty allele.

In America today, about 1 in 200 Amish people are born with Ellis-van Creveld syndrome.
This disorder is very rare in people in America who are not Amish.

(a) In America today, there are approximately 1250 Amish people who have Ellis-van
Creveld syndrome. Use the information provided to calculate the current Amish
population of America.

Amish population ____________________

(1)

(b) The faulty allele that causes Ellis-van Creveld syndrome is the result of a mutation
of a gene called EVC. This mutation leads to the production of a protein that has
one amino acid missing.

(i) Suggest how a mutation can lead to the production of a protein that has one
amino acid missing.

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(2)

(ii) Suggest how the production of a protein with one amino acid missing may lead
to a genetic disorder such as Ellis-van Creveld syndrome.

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 ______________________________________________________________

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(2)
(Total 5 marks)

Q2.
Read the following passage.

Soon a single drop of blood might be enough to reveal, at a very early stage, if a patient has
cancer. It could also tell us what type of cancer it is and whether it is treatable. Fragments of
DNA from body cells are present in blood plasma. Some of these fragments may be from
cancer cells. The fragments can be detected by a new test in which a test strip containing
5 nucleic acid binds to sections of altered DNA.

Other cancer-detecting techniques involve removing a tissue sample from a patient. The
tissue sample is used to obtain mRNA. By examining the mRNA, scientists can discover
whether cancer is present.

Use information from the passage and your own knowledge to answer the questions.

(a) Describe how altered DNA may lead to cancer.

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(6)

(b) Explain why fragments of DNA from cancer cells may be present in blood plasma
(lines 3-4).

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 ___________________________________________________________________
(2)

(c) Explain why the nucleic acid on the test strip will only bind to altered DNA (lines 4-
5).

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(2)

(d) This test strip will allow cancers to be detected at a very early stage. Explain why
cancer is more likely to be treated successfully if the disease is detected at a very
early stage.

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(2)

(e) Explain how examining mRNA (line 7) enables scientists to discover whether cancer
is present.

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(3)
(Total 15 marks)

Q3.
One hypothesis for the cause of cancer of the colon (large intestine) is that Clostridium
bacteria present in the gut can convert bile steroids into cancer-causing substances.

(a) Explain the presence of bile in the colon.

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 ___________________________________________________________________

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(2)

(b) The concentrations of bile steroids and numbers of Clostridium bacteria were
measured in people with colon cancer and in controls without colon cancer. The
table shows the results.

Number of
Concentration Percentage of Percentage of
Clostridium P
of bile steroids cancer patients controls
bacteria

high high 76 9 <0.01

high low 13 8 <0.01
low high 7 34 <0.01
low low 4 49 <0.01

A statistical test showed there was a significant difference between the cancer
patients and the controls in each of the four categories.

(i) Explain how the results could be used to support the hypothesis that
Clostridium bacteria convert bile steroids into substances which cause colon
cancer.

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(2)

(ii) Explain how the results indicate that other factors may be involved in causing
colon cancer.

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(1)

(c) Human cells contain genes that control their growth and division. One of these
genes codes for a protein that prevents cell division. The substances formed from
bile steroids by Clostridium bacteria may cause gene mutation. Describe and
explain how these substances could cause colon cancer.

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 ___________________________________________________________________

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(4)
(Total 9 marks)

Q4.
(a) Explain how the structure of DNA is related to its functions.

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(6)

Scientists investigated three genes, C, D and E, involved in controlling cell division.

They studied the effect of mutations in these genes on the risk of developing lung cancer.

The scientists analysed genes C, D and E from healthy people and people with lung
cancer.

• If a person had a normal allele for a gene, they used the symbol N.
• If a person had two mutant alleles for a gene, they used the symbol M.

They used their data to calculate the risk of developing lung cancer for people with
different combinations of N and M alleles of the genes. A risk value of 1.00 indicates no
increased risk. The following table shows the scientists’ results.

Risk of
Gene C Gene D Gene E developing
lung cancer

N N N 1.00

M N N 1.30

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 N N M 1.78

N M N 1.45

N = at least one copy of the normal allele is present

M = two copies of the mutant allele are present

(b) What do these data suggest about the relative importance of the mutant alleles of
genes C, D and E on increasing the risk of developing lung cancer? Explain your
answer.

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(3)

Chemotherapy is the use of a drug to treat cancer. The drug kills dividing cells.
The figure below shows the number of healthy cells and cancer cells in the blood of a
patient receiving chemotherapy. The arrows labelled F to I show when the drug was given
to the patient.

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 Time / days

(c) Calculate the rate at which healthy cells were killed between days 42 and 46.

____________________ cells killed per unit volume of blood per day

(1)

(d) Describe similarities and differences in the response of healthy cells and cancer
cells to the drug between times F and G.

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(3)

(e) More cancer cells could be destroyed if the drug was given more frequently.

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Suggest why the drug was not given more frequently.

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(2)
(Total 15 marks)

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Mark schemes

Q1.
(a) 250 000;
1

(b) (i) Loss of 3 bases / triplet = 2 marks;;

‘Stop codon / code formed’ = 1 mark max unless related to
the last amino acid

Loss of base(s) = 1 mark;

eg triplet for last amino acid is changed to a stop codon /
code = 2 marks
3 bases / triplet forms an intron = 2 marks
Accept: descriptions for ‘intron’ eg non-coding DNA
‘Loss of codon’ = 2 marks
2

(ii) 1. Change in tertiary structure / active site;

Neutral: change in 3D shape / structure

2. (So) faulty / non-functional protein / enzyme;

Accept: reference to examples of loss of function eg fewer E-
S complexes formed
2
[5]

Q2.
(a) 1 (DNA altered by) mutation;
2 (mutation) changes base sequence;
3 of gene controlling cell growth / oncogene / that monitors cell division;
4 of tumour suppressor gene;
5 change protein structure / non-functional protein / protein not formed;
6 (tumour suppressor genes) produce proteins that inhibit cell division;
7 mitosis;
8 uncontrolled / rapid / abnormal (cell division);
9 malignant tumour;
max 6

(b) cancer cells die / break open;

releasing DNA;
2

(c) normal DNA and changed DNA have different sequences;

DNA only binds to complementary sequence;
2

(d) fewer abnormal / cancerous cells / smaller tumours;

less cell damage / less spread / fewer locations to treat;
2

(e) mRNA base sequence has changed;

gene / DNA structure is different / has mutated;
cancer gene active / tumour suppressor gene inactive;

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 3
[15]

Q3.
(a) secreted by the liver / storage / release from gall bladder into the duodenum / small
intestine;
bile passes unchanged from small intestine to colon;
2

(b) (i) chance alone has not caused the difference (between the two patients
types);
high steroid high bacteria (significantly) higher percentage of cancer
patients / low steroids low bacteria (significantly) higher percentage of
control patients;
2

(ii) some patients with low levels of one / both factor(s) have cancer;
1

(c) change in code / base sequence / structure of gene;

addition / deletion / substitution;
mRNA / transcription changed;
gene product / protein structure / amino acid sequence changed / different
protein;
loss of function;
uncontrolled cell division;
4 max
[9]

Q4.
(a) 1. Sugar-phosphate (backbone) / double stranded / helix so provides strength /
stability / protects bases / protects hydrogen bonds;
Must be a direct link / obvious to get the mark
Neutral: reference to histones

2. Long / large molecule so can store lots of information;

3. Helix / coiled so compact;

Accept: can store in a small amount of space for ‘compact’

4. Base sequence allows information to be stored / base sequence codes

for amino acids / protein;
Accept: base sequence allows transcription

5. Double stranded so replication can occur semi-conservatively / strands

can act as templates / complementary base pairing / A-T and G-C so
accurate replication / identical copies can be made;

6. (Weak) hydrogen bonds for replication / unzipping / strand separation /

many hydrogen bonds so stable / strong;
Accept: 'H-bonds' for ‘hydrogen bonds’
6

(b) 1. (Mutation) in E produces highest risk / 1.78;

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 2. (Mutation) in D produces next highest risk / 1.45;

3. (Mutation) in C produces least risk / 1.30;

Must be stated directly and not implied
E > D > C = 3 marks
Accept: values of 0.78, 0.45 and 0.30 for MP1, MP2 and
MP3 respectively
If no mark is awarded, a principle mark can be given for the
idea that all mutant alleles increase the risk
3

(c) 180;
1

(d) (Similarities):

1. Same / similar pattern / both decrease, stay the same then increase;

2. Number of cells stays the same for same length of time;

Ignore: wrong days stated

(Differences):

(Per unit volume of blood)

3. Greater / faster decrease in number of healthy cells / more healthy cells

killed / healthy cells killed faster;
Accept: converse for cancer cells
Accept: greater percentage decrease in number of cancer
cells / greater proportion of cancer cells killed

4. Greater / faster increase in number of healthy cells / more healthy cells

replaced / divide / healthy cells replaced / divide faster;
Accept: converse for cancer cells
For differences, statements made must be comparative
3 max

(e) 1. More / too many healthy cells killed;

2. (So) will take time to replace / increase in number;

Neutral: will take time to ‘repair’

3. Person may die / have side effects;

2 max
[15]

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