1. Thirty-three human blood group systems are known to exist.

t. Two of these are the ABO blood group system and

the Hh blood group system.

Explain why a person whose blood group is AB expresses both A and B antigens on the surface of their red
blood cells.

[2]

© OCR 2019. 1 of 42 PhysicsAndMathsTutor.com

 2. Some varieties of maize plants have smooth kernels (seeds), whereas others have wrinkled kernels. This is a
genetic trait.

Varieties with smooth kernels are rich in starch and useful for making flour.

A farmer has been given some smooth seeds all of the same unknown genotype. The farmer carries out a cross-
breeding experiment using these seeds and some known to be heterozygous for this trait.

The results are shown in Table 4.1.

F1 phenotype Observed results Expected results

Smooth 547

Wrinkled 185

Total 732

Table 4.1
2
The χ statistic is calculated in the following way:

(i) Calculate the value of χ2 for the above data. Show your working.

Answer _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ [2]

(ii) Table 4.2 shows a critical values table.

Degrees of freedom probability, p

0.90 0.50 0.10 0.05

1 0.016 0.455 2.71 3.84

2 0.211 1.386 4.61 5.99

3 0.584 2.366 6.25 7.81

4 1.064 3.357 7.78 9.49

Table 4.2

Using your calculated value of χ2 and Table 4.2 what conclusions should you make about the significance of

© OCR 2019. 2 of 42 PhysicsAndMathsTutor.com

 the difference between the observed and expected results?

[2]

(iii) Describe the genotype of the seed the farmer was given. Give a reason for your answer.

[2]

© OCR 2019. 3 of 42 PhysicsAndMathsTutor.com

 3(a). A successful organ transplant usually depends on a good genetic match between the organ donor and the
recipient to avoid the transplanted organ being rejected.

Complete the following paragraph about the major histocompatibility (MHC) system by inserting the most
appropriate term.

There are six major genes controlling the MHC complex located on chromosome 6. Each gene codes for a

_____________________, which is expressed on the cell surface membrane and acts as an

_____________________ Each of the six genes has many different alleles.

The gene _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ are close together on chromosome 6, making it unlikely that

_____________________ will occur between them during prophase 1 of _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _

This means that one complete set of alleles or haplotype will be inherited from each parent. The MHC alleles

are said to be _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ , as the alleles from both haplotypes are expressed in the phenotype.

[6]
(b). A transplant is more likely to be successful if MHC haplotypes and the ABO blood group of the donor and the
recipient are matched.

The genes controlling the ABO blood group are located on chromosome 9.

Explain how the children of parents who are heterozygous for blood group A could have identical MHC
haplotypes but different blood groups.

[3]

© OCR 2019. 4 of 42 PhysicsAndMathsTutor.com

 4(a). Choroideremia is an inherited sex-linked recessive condition that results in degeneration of the choroid layer in
the eye. This condition leads to a gradual breakdown of the retina and eventual blindness.

Using the normal conventions for constructing genetic diagrams and the letters E and / or e, choose appropriate
symbols to represent:

(i) the allele for choroideremia

[1]

(ii) the possible genotype(s) of a person who develops choroideremia

[1]

(iii) the genotype of a carrier of choroideremia.

[1]

(b). The gene involved in choroideremia codes for a protein called REP–1.

Many of the gene mutations that cause choroideremia result in the formation of a protein that is much smaller
than normal REP–1. This smaller protein is known as a truncated protein.

(i) State the organelle in the cell where the following occurs:

a complementary RNA copy of the gene is synthesised

the REP-1 protein is synthesised

[2]

(ii) Suggest how a mutation in the REP-1 gene could lead to the formation of a truncated protein.

[2]

© OCR 2019. 5 of 42 PhysicsAndMathsTutor.com

 (c). A phase 1 clinical trial was carried out using gene therapy to treat choroideremia. An outline of the method used
is given below.

A complementary DNA (cDNA) copy of the REP–1 gene was inserted into a viral vector.
The retina of the patient was detached to expose the choroid layer.
A fine needle was used to inject the virus into the choroid layer.

(i) Name the enzyme used to create a cDNA copy of the REP–1 gene.

[1]

(ii) What type of gene therapy has been used in the trial?

[1]

(iii) Discuss the reasons why genetic diseases such as choroideremia are good choices for treatment using gene
therapy.

[3]

© OCR 2019. 6 of 42 PhysicsAndMathsTutor.com

 5. Human genetic diseases, such as sickle cell anaemia and cystic fibrosis, are caused when mutated forms of a
gene are inherited.

The study of how these alleles are distributed in human populations can be an indication of how a human
population has evolved over time.

State two genetic diseases, other than sickle cell anaemia and cystic fibrosis, which are caused by the
inheritance of mutant alleles.

[2]

© OCR 2019. 7 of 42 PhysicsAndMathsTutor.com

 6(a). Down's syndrome (DS) is a genetic condition that occurs in approximately 1 in every 800 births.

Fig. 2.1a shows a karyotype from a male with a rare form of DS. In this karyotype, there is an additional piece of
genetic material attached to one copy of chromosome 14.

A larger diagram of both copies of chromosome 14 is shown in Fig. 2.1b.

Fig. 2.1b

Describe how the appearance of the karyotype shown in Fig. 2.1a differs from that of the more common form
of DS.
Suggest when and how the transfer of extra genetic material to chromosome 14 occurred, and what events
led to cells with this karyotype being formed.

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 In your answer, you should include a comparison of the karyotypes and describe the events during and
after meiosis that led to the formation of the karyotype in Fig. 2.1a.

[7]

© OCR 2019. 9 of 42 PhysicsAndMathsTutor.com

 (b). The National Cytogenic Register for DS was set up in the United Kingdom in 1989.

This register holds anonymous data on families for over 26 000 cases of DS. These cases were diagnosed
either antenatally or postnatally.

Fig. 2.2 shows the changes in the number of DS cases diagnosed between 1990 and 2005. It also shows the
changes in the number of live births of children with DS for the same period.

Fig. 2.2

(i) Suggest why the data on the National Cytogenic Register for DS are held anonymously.

[1]

(ii) Using the information in Fig. 2.2, suggest why the number of cases of DS diagnosed between 1990 and 2005
has changed.

© OCR 2019. 10 of 42 PhysicsAndMathsTutor.com

 [2]

(iii) Suggest what factor the investigators took into account in estimating the number of children with DS who
would have been born, assuming that no antenatal screening or terminations were available.

[1]

© OCR 2019. 11 of 42 PhysicsAndMathsTutor.com

 7. The appearance of blood samples viewed under a microscope can be used to diagnose a number of different
conditions.

Fig. 7.1 shows a blood sample. An abnormal cell known as a schistocyte is labelled. Schistocytes are formed
from fragments of red blood cells.

Fig. 7.1

(i) Use the information in Fig. 7.1 to calculate the size of cell A.

Show your working. Give your answer to the nearest whole number.

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 Answer = _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ μm

[2]

(ii) When activated platelets bind to the endothelium of small arterioles and capillaries, schistocytes are formed.

Suggest why the binding of activated platelets leads to the formation of schistocytes.

[1]

(iii) State one genetic disease that could be diagnosed by examination of a blood smear.

[1]

© OCR 2019. 13 of 42 PhysicsAndMathsTutor.com

 8. Haemophilia A is a disease caused by a mutation in the gene coding for Factor VIII.

Factor VIII is involved in the blood clotting cascade.

(i) Scientists have found different types of mutation that can cause haemophilia A.

One type of mutation is a deletion of two bases. Suggest how this mutation causes the Factor VIII protein to
lose its biological function.

[2]

(ii) Explain why haemophilia A is more common in males than in females.

[2]

(iii) A male with haemophilia A and a female who carries the disease have a child.

Complete the Punnett square below to determine the probability that the child will have haemophilia A. Use
H/h to represent the alleles coding for Factor VIII.

© OCR 2019. 14 of 42 PhysicsAndMathsTutor.com

 probability _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ [3]

© OCR 2019. 15 of 42 PhysicsAndMathsTutor.com

 9. The Galapagos Islands is an ecosystem of exceptional biological interest.

The lava cactus, Brachycereus nesioticus, is found only in the Galapagos Islands. It speciated rapidly from a
very few individuals of a parent species, perhaps only two. These individuals were carried on currents from the
mainland of South America.

There is a gene that enables the mainland Brachycereus species to obtain water from damp mists in the
atmosphere:

let Q be the normal allele, allowing the cactus to obtain water from damp mists
let q be a rare recessive allele that, when homozygous, could allow the cactus to obtain water from salty sea
spray.

(i) Consider a cross between two heterozygous individuals.

What is the theoretical percentage of the offspring from these two individuals that would be able to obtain
water from sea spray?

Use the space below for any working.

Answer = _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ % [1]

(ii) B. nesioticus colonises bare rock at the edge of the Galapagos Islands.

Explain how individuals homozygous for the q allele would soon come to dominate the gene pool.

© OCR 2019. 16 of 42 PhysicsAndMathsTutor.com

 [4]

© OCR 2019. 17 of 42 PhysicsAndMathsTutor.com

 10(a) The gene, HBB, codes for the beta polypeptide in haemoglobin.
.
A person with sickle cell anaemia has a mutation in HBB. This causes a change to the sixth amino acid in the
beta polypeptide.

Describe the type of DNA mutation that causes the amino acid change in the beta polypeptide.

[1]

(b). A couple with no symptoms of sickle cell anaemia want to have a child. Both individuals have close relatives with
the disease.

(i) Explain how a genetic counsellor can use knowledge of family history to provide genetic advice to the couple.

[2]

(ii) Suggest two ethical concerns that may be associated with the genetic testing of embryos for sickle cell
anaemia.
1

[2]

© OCR 2019. 18 of 42 PhysicsAndMathsTutor.com

 11. Freeman was working on developing drought-resistant varieties of alfalfa using selective breeding, but this has
proved difficult.
Drought resistance depends on the ability to withstand several abiotic factors, such as high temperatures and
high light intensity.

(i) Use your knowledge of inheritance to suggest why it is difficult to study the genetic basis of drought
resistance.

[2]

(ii) Alleles of the miRNA 156 gene regulate a group of transcription factors in alfalfa. These transcription factors
activate or inhibit promoters that control genes related to drought resistance.

Explain how the miRNA 156 gene could be used to investigate the genetic basis of drought resistance.

[2]

(iii) Scientists have made a plasmid that produces more of the miRNA 156 gene product than normal and want to
use this to develop a drought-resistant alfalfa plant.
Explain how they could incorporate the plasmid into alfalfa cells.

[2]

© OCR 2019. 19 of 42 PhysicsAndMathsTutor.com

 12(a) A Robertsonian translocation is a type of chromosomal translocation in which the long arms of two chromosomes
. fuse together.

Fig. 31.1 shows this event occurring between chromosomes 14 and 21.

Fig. 31.1

An individual who inherits the translocated chromosome in Fig. 31.1 will either have Down’s syndrome or be a
carrier of the disorder.

A couple have a child. The mother is a carrier and the father is genetically normal. The genetic material with
respect to chromosomes 14 and 21 in the somatic cells of the parents are shown in Fig. 31.2.

Fig. 31.2

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 (i) With reference to Fig. 31.2, suggest why the mother does not have Down’s syndrome.

[1]

(ii) The child is born with Down’s syndrome.

Complete the diagram in Fig. 31.2 to show the genetic material with respect to chromosomes 14 and 21 in:

• the somatic cell of the father

• the gametes of the mother and father
• the zygote of the child.
[Answer on Fig. 31.2] [4]
(b). Down’s syndrome is more commonly caused by a genetic event that is distinct from that shown in Fig. 31.1.

State the name of this event and outline how it arises.

[3]

© OCR 2019. 21 of 42 PhysicsAndMathsTutor.com

 (c). A sample of cells can be collected from a fetus to test for genetic disorders such as cystic fibrosis.

(i) Chorionic villus sampling (CVS) and amniocentesis are two methods of obtaining fetal cells.

State the source of fetal cells that are obtained through these methods.

CVS

Amniocentesis

[1]

(ii) The sample of fetal cells can be used to produce a karyotype for genetic analysis.

Explain why karyotyping can not be used to detect cystic fibrosis.

[1]

END OF QUESTION PAPER

© OCR 2019. 22 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

1 Any 2 from: 2
(A and B are) codominant
idea that both genes are transcribed
idea that both antigen proteins are
produced

Total 2

2 i expected results correctly calculated (1) 2

F1 Observed Expected
phenotype results results = 0.007 + 0.022
Smooth 547 549
χ2 = 0.029
Wrinkled 185 183
Total 732 732 ALLOW one mark for correct working if Chi
squared value is incorrect
Chi squared value correctly calculated (1)

ALLOW one mark for incorrect expected

results used correctly in the equation to
give a Chi squared value

ii no significant difference between the 2 To one degree of freedom

observed and expected ALLOW accept null hypothesis
results / do not reject null hypothesis (1) ALLOW ecf from (i) at correct degree of
test / chi squared value is smaller than the freedom
critical value at p = 0.05 (1)

iii heterozygote / heterozygous (1) 2 ALLOW contains both dominant and

recessive alleles
presence of wrinkled seeds in F1 (1) IGNORE any letters used in place of
alleles

Total 6

3 a 1. polypeptide / protein / glycoprotein; 6

2. antigen; 2. ACCEPT receptor
3. loci; 3. ACCEPT ‘locus or locuses’
4. cross(ing) over; 4. CREDIT ‘chiasma / chiasmata
5. meiosis;
6. codominant; Examiner's Comments

This question proved to be very accessible

to candidates. This was done well although
some candidates failed to carry the
information forward to the next part of the
question.

© OCR 2019. 23 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

b 1. ref to MHC genes and ABO genes 3 max

being, unlinked / on separate
chromosomes / on chromosomes 6 and 9;

2. ref to independent assortment (of

chromosomes 6 and 9) in meiosis;

3. idea that gametes(s) contain same copy

of chromosome 6 / different copies of
chromosome 9;

4. children could be blood group O or A;

5 ref to 25% probability that a child could 5. CREDIT this mark point on a genetic
have, blood group O diagram
OR
(only) 75% probability of, blood group A Examiner's Comments
OR
Several candidates misread the question
children could be
and assumed that it was similarities and
differences between the parents and
6. ref to 25% chance of having same
children that were being referred to. Since
haplotype;
they had just completed a genetic diagram
showing that this does not happen this was
disappointing. Many candidates were able
to explain how the children could have
different blood groups although the term
‘heterozygous’ triggered some candidates
to respond in terms of the AB blood group.
The fact that the MHC alleles and the
blood group alleles were on different
chromosomes was spotted by several
candidates but relatively few went on to
discuss independent assortment and some
referred to crossing over, indicating a basic
misconception about which chromosomes
are involved in crossover events.

Total 9

© OCR 2019. 24 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

4 a i e; 1 CREDIT Xe
ACCEPT a single, lower case alternative
letter
IGNORE ‘c’ unless it is clearly ‘lower case’
IGNORE Ie

ii XeY and XeXe 1 ecf for the allele symbol in (i)

iii XEXe 1 ecf for the allele symbol in (i)

Examiner's Comments

While many were aware that ‘e’ would be

the allele symbol for the condition, some
put a genotype (ee) in (i) and only the
better candidates went on to give the
correct genotypes for (ii) and (iii).

b i 1 ANSWERS MUST BE IN THIS ORDER

1. nucleus / nucleolus;
2. ribosomes; ACCEPT RER / rough endoplasmic
reticulum

ii idea that mutation (in DNA) leads to a, stop 2 max

/ termination, codon
OR IGNORE ref to a base deletion in context
idea that DNA sequence is deleted of shorter DNA
OR
idea that mutation leads to more RNA Examiner's Comments
being spliced out;
Part (i) was synoptic and answered well
idea that translation is terminated by stop but in (ii) too many answers were given in
codon; terms of changing the sequence of amino
acids rather than producing a protein with
no (more) amino acids are added (after the fewer amino acids.
stop codon) / fewer amino acids (in
truncated protein);

c i reverse transcriptase; 1

ii somatic (gene therapy); 1 CREDIT augmentation (gene therapy)

© OCR 2019. 25 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

iii Idea that disease involves a defect in a 3

single gene; Mp2 ACCEPT idea that disease will be
cured / vision will be restored.
no other cause;
Mp3 CREDIT reverse argument ‘easy to
idea that disease is easily identified in see if it has worked’
sufferers;

gene / gene product, is known; ACCEPT ‘easy to insert the gene’

gene can be delivered reliably to affected Examiner's Comments

cells;
This was intended to be accessible so it
was disappointing how many candidates
did not ‘spot’ reverse transcriptase or the
fact that this would be somatic gene
therapy. In part (iii) many candidates did
not pick up on the question rubric and
answered in terms of germ line therapy or
ethics. It would be a worthwhile discussion
for Centres to have with their candidates
as to what makes some genetic diseases
targets for treatment using gene therapy
while others are not.

Total 12

© OCR 2019. 26 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

5 2 Mark the first answer on each prompt line.

If the answer is correct and an additional
answer is given that is incorrect or
contradicts the correct answer = 0 marks

IGNORE ‘colour blindness’

Huntington's (disease);
PKU / phenylketonuria;
haemophilia;
nail patella syndrome;
muscular dystrophy / DMD;
thalassaemia; DO NOT CREDIT Turner's syndrome /
AVP;; Down's syndrome / Klinefelters syndrome

Examiner's Comments

This was done well although some

candidates did not appreciate the
significance of the term ‘allele’ in the
question and gave answers which included
Down’s, Turner’s or Klinefelter’s. Very
astute candidates gave familial glycosuria
as an answer and this was credited.
Hunter’s syndrome was given as a
response. This is a genetic disease and
was credited although it was possibly an
error on the part of the candidate. The
question asked for two diseases to be
stated rather than named so PKU was
acceptable as were phonetic spellings
although they needed to be approaching
‘phenylketonuria’.

Total 2

© OCR 2019. 27 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

6 a karyotypes 6
K1 2.1a has 46 chromosomes / DS
karyotype has 47;
K2 2.1a has 2 copies of chromosome 21 /
DS karyotype has 3;
K3 2.1a Chromosome 14 copies are
different sizes / DS chromosome 14 same
size;

1 (translocation) occurs during meiosis; ACCEPT a stage in meiosis e.g. prophase

1
2 chromosomes / chromatids, break CREDIT mps 2 to 6 if shown on annotated
and rejoin; diagrams.

3 idea that a piece of chromosome 21

attaches (to chromosome 14);

4 both copies of chromosome 14 and

21 segregating independently;
CREDIT sperm or oocyte for gamete in
mps 5 and 6
5 idea that one gamete has (both)
chromosome 21 an additional piece of
chromosome 21;

6 idea that (this) gamete, fertilised by / CREDIT description of a normal gamete

fertilises, a normal gamete; e.g. one copy of 21

ACCEPT mp6 in context of Trisomy 21

© OCR 2019. 28 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

1 LOOK FOR ONE mark from K1 - K3:

AND
QWC; mps 5 and 6

Examiner's Comments

This was split between AO1 and AO2

criteria.
This question was split into two parts. The
first part required candidates to ‘spot’
differences between the karyotype shown
and that of DS due to Trisomy 21. For
many candidates, this was the only mark
they achieved. Some weaker candidates
confused DS with Turner's or Klinefelter's
syndrome. Many candidates could
successfully describe what happens in a
translocation although some were
describing the process but calling it a non-
disjunction. However, very few candidates
realised that, following translocation, the
‘extended’ chromosome 14 could
segregate with the ‘normal’ 21 and that it
was the fertilisation of a gamete with this
combination of chromosomes by a ‘normal’
gamete that would lead to this karyotype.
Candidates are clearly familiar with this
inherited form of DS but need far more
guidance as to how it is actually inherited.

© OCR 2019. 29 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

b i idea that 1 Look for ideas such as:

a reason given for information being
sensitive;
‘women might not want people to know
because they feel guilty
OR
people don't want to be discriminated
against or judged
OR
to comply with legislation e.g. on
safeguarding

DO NOT CREDIT ideas about ‘privacy’

without some further qualification.

Examiner's Comments

This question addressed AO3 criteria.

Weaker candidates referred to people

‘wanting’ to keep details private which was
not enough to gain credit. Some further
explanation was required and some very
perceptive and thoughtful answers were
seen.

© OCR 2019. 30 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

ii improvements in (antenatal) screening 2 CREDIT example such as introduction of

techniques / AW; nuchal fold screening or serum testing or
‘triple’ test in antenatal care
IGNORE reference to improvements in
karyotyping
ACCEPT improvements in medical
technology
increase in, population / birth rates /
pregnancies;

idea that more women now screened; ACCEPT idea that younger women are
now being screened.

more older women having children / AW; Examiner's Comments

idea that increasing age is risk factor (for In (ii) explanations were required and the
DS); commonest answers referred to either
increased maternal age or increase in the
screening. Good candidates also spotted
that the data was not a rate and correctly
suggested increasing birth rates. Weaker
candidates described the data without
necessarily explaining.

iii idea of fetal viability / AW; 1 CREDIT statements which refer to

increase chance of a fetus with DS
miscarrying naturally

Examiner's Comments

Part (iii) was a stretch and challenge

question and many candidates correctly
deduced that the viability of fetus with DS
would have to be taken into account.
Again, some candidates expressed their
ideas with great sensitivity.

Total 11

© OCR 2019. 31 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

7 i 7 ( μm);; 2 Correct answer = 2 marks

If answer is incorrect, award one mark for

correct working -(2 or 20 or 20 000) ÷ 2
800
OR
(1.9 or 19 or 19 000) ÷ 2 800

Award one mark for an answer which has

not been rounded 7.142……. OR 6.785….

Examiner's Comments

The calculation in (i) was done well by

many candidates although many did not
notice that the answer was required in μm
or used incorrect factors of 10 in their
calculations. Part (i) was synoptic with
candidates needing to recall the role of
platelets and suggest how this could cause
red blood cell fragmentation.

ii idea that narrow lumen / roughened 1 ACCEPT description of blood clot e.g
endothelium / blood clot, causes (red blood formation of fibrin mesh causing
cells to fragment); fragmentation of red blood cells

Examiner's Comments

In (ii) a surprising number of candidates

opted for haemophilia - possibly triggered
by the platelets and blood clotting ideas in
the previous part of the question.

iii sickle cell (anaemia) / AVP; 1 Examiner's Comments

(iii) tested entirely AO1 objectives.

Total 4

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 Mark Scheme

Question Answer/Indicative content Marks Guidance

8 i interrupts triplet code / causes frame-shift / max 2

production of premature stop codon ✓

(DNA) triplets code for different amino

acids ✓

primary structure of protein changed ✓

protein cannot interact with other, proteins /

named component ✓

ii gene (encoding Factor VIII), on X 2 ORA

chromosome / X-linked / sex-linked ✓

males lack second X chromosome ✓ ORA

iii 3

ALLOW H/h not superscripted on X

✓✓ ALLOW 50% or ½
probability = 0.5 ✓

Total 7

© OCR 2019. 33 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

9 i 25 (%); 1 IGNORE working

Examiner's Comments

The majority of candidates were able to

calculate the theoretical percentage of a
heterozygous individual being produced in
a cross between two heterozygous
individuals.

© OCR 2019. 34 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

ii 4 max ACCEPT ORA for mp 2 – 5

IGNORE mist / sea water for mp1 and 2

ACCEPT homozygous recessive / ‘they’ for
1. (island edges / cacti) subject to, sea/salt, qq genotype
spray;

2. qq (genotype) confers ability to obtain 2. ACCEPT qq gets water supply from salt
water from salt spray; spray
2. ACCEPT qq genotype confers tolerance
to salt (spray)

3. (gives) selective advantage; 3. ACCEPT description e.g. ‘they are (at an

advantage and are) selected for’
4. (individuals with qq genotype) survive /
reproduce;
5. allele / q, frequency increases; 5. DO NOT CREDIT gene frequency
increases
5. IGNORE ‘qq frequency increases’

6. directional selection; 6. IGNORE natural selection

7. geographic, isolation / barrier; Examiner's Comments

8. (means) no new alleles coming in;
Good responses were able to
comprehensibly explain how individuals
homozygous for the q allele would come to
dominate the gene pool of the
Brachycereus species of cactus in the
Galapagos Islands. It was essential to refer
to the local conditions where the cactus is
subjected to salty sea spray. Candidates
realising the prevailing conditions, correctly
referred to the qq individuals being able to
obtain water from the salty spray, giving
them a selective advantage and allowing
them to survive. A few acceptable
alternative arguments were also seen for
the other cacti with the Q allele being
unable to thrive. A number of responses
failed to go as far as explaining that this
selective advantage would result in the
frequency the q allele rapidly increasing.
Rarely was it mentioned that this was
directional selection or that the cactus was
geographically isolated with no new alleles
coming into the population.

Total 5

© OCR 2019. 35 of 42 PhysicsAndMathsTutor.com

 Mark Scheme

Question Answer/Indicative content Marks Guidance

10 a substitution ✔ 1 ALLOW ref to single base replacement.

IGNORE point mutation
Examiner’s Comments
(a) addressed AO1 criteria with the
remaining parts of the question
addressing AO2 and some AO3 in (b)(iii).
(a) was generally done well.

b i (construct) pedigree / genetic tree 2 IGNORE ref to genetic testing

(diagram) ✔ Examiner’s Comments
to calculate, probability / chance / There were two common incorrect
likelihood of disease inheritance ✔ responses in (b)(i). Many candidates
suggested that the role of the genetic
counsellor was to work out the genotype of
the parents rather than predict the
probability of their child being born with a
genetic disease. Secondly, there were
some inaccurate descriptions of how they
might do this referring to a genetic cross,
Punnet square or family tree rather than
the more scientific term of pedigree
analysis.

ii any 2 from: max 2

may lead to abortion / decision as to
whether child should be born ✔

damage to embryo and / or mother ✔ ALLOW increased risk of miscarriage

false positive / false negative, results ✔ DO NOT ALLOW inaccuracy unqualified

idea that embryo cannot give consent ✔ IGNORE ref to playing God
Examiner’s Comments
Most candidates scored at least one mark
for part (b)(ii) and did restrict their answers
to ethical considerations. However, the
question asked about testing for sickle cell
anaemia and therefore more generalised
responses suggesting that this might lead
to designer babies were not credited.

Total 5

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Question Answer/Indicative content Marks Guidance

11 i (drought resistance) involves many, genes 2 ALLOW (drought resistance) is polygenic

/ loci ✓

Involves (possible), multiple / variety, IGNORE different alleles

alleles (at each locus) ✓
Examiner’s Comments

Some candidates were able to appreciate

the polygenic aspect of drought resistance
and successfully linked the information in
the stem of the question with genes and
inheritance. Many candidates did not
recognise the relevance of ‘inheritance’
and ‘genetic basis’ in the stem of the
question and discussed their answers in
terms of phenotype only e.g. not many
plants survive, so there are very few that
can be studied.

ii (gene/ transcription factor) can be used to 2

identify, genes / alleles, involved /
activated, in drought resistance ✓

promoters allow, gene expression / ALLOW RNA Polymerase binds to

transcription ✓ promoters

remove / knockout, (miRNA 156) gene and Examiner’s Comments

observe, phenotype / drought resistance ✓
Candidates struggled to understand the
relevance of the miRNA gene and
confused this with RNA.
However, many candidates did discuss
knocking out miRNA to observe the
phenotype and so exhibited a good
understanding of knockout technology.

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 Mark Scheme

Question Answer/Indicative content Marks Guidance

iii place plasmid in Agrobacterium / use gene 2 max ALLOW use Agrobacterium as vector for
gun ✓ ‘place plasmid in Agrobacterium’.
ALLOW a description of a gene gun
IGNORE ref to viruses / liposomes

screen for, transgenic/ recombinant, cells

✓

details of selectable marker ✓ IGNORE ref to antibiotics

Examiner’s Comments

Few candidates scored full marks. Those

that scored one mark usually referred to a
gene gun for insertion of the plasmid. Most
candidates did not appreciate that the
alfalfa would be insertion into plant cells
and referred to vectors relevant to animal
cells e.g. viruses. There were a lot of
descriptions using restriction enzymes and
ligases to obtain the recombinant plasmid,
not realising the focus of the question was
on the incorporation of the plasmid.

Total 6

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 Mark Scheme

Question Answer/Indicative content Marks Guidance

12 a i does not have trisomy 21 ✓ 1 AW e.g. ‘no excess of chromosome 21’

ALLOW only has two of chromosome 21

Examiner’s Comments

This question required candidates to know

that Down’s syndrome is a disorder caused
by extra genetic material relating to
chromosome 21. This can be when there
are three distinct copies of chromosome
21(trisomy 21) or some extra material
relating to chromosome 21. In this case the
mother does not have any extra genetic
material and therefore does not have
Down’s syndrome.

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 Mark Scheme

Question Answer/Indicative content Marks Guidance

ii 4 ALLOW incorrect proportions of

translocated chromosome

ALLOW diagrams that do not show

centromeric regions

DO NOT ALLOW drawings without shading

A✓
B✓
C✓
D✓ ECF (from A)
ECF (from B and C)

Examiner’s Comments

Very few candidates were able to complete

all four of the diagrams correctly. Many
candidates were not able to identify which
chromosomes would be present in the
gamete of the mother but were credited
with subsequent marks if they understood
that the zygote would result from a
combination of the two gametes.
Candidates need to be careful when
completing diagrams such as these to
make sure that they include the relevant
shading or annotation to distinguish the
relevant chromosomes.
Exemplar 1

In this response the candidate completed

the diagrams correctly. The shape and
shading of the chromosomes was clear
and unambiguous.

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 Mark Scheme

Question Answer/Indicative content Marks Guidance

b (meiotic) non-disjunction ✓ max 3

any 2 from:
failure of homologous chromosomes to ALLOW for one mark - failure of
separate during meiosis I/anaphase I ✓ homologous chromosomes or sister
failure of sister chromatids to separate chromatids to separate during meiosis
during meiosis II/anaphase II ✓
gamete has extra copy of chromosome
(21) ✓ Examiner’s Comments

Few candidates were able to recall non-

disjunction, but the question also required
a precise description of what might happen
during meiosis to result in the formation of
a zygote with three chromosomes 21s.
Exemplar 2

This response recalls the name and gives

a succinct and clear description of events
of meiosis. There was an implication that
all the chromosomes failed to separate
making the gamete diploid and therefore
this response would not have been
credited with the idea of the gamete having
an extra chromosome 21. However, it
gained the maximum of three marking
points in the first four lines.

c i CVS: placenta 1 IGNORE chorionic villus

amniocentesis: amniotic fluid
✓ Both required for 1 mark

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 Mark Scheme

Question Answer/Indicative content Marks Guidance

ii 1 from: 1
(karyotype) cannot detect gene/allele AW e.g. abnormal base sequence
(mutations) ✓
(karyotype) can only detect changes in
chromosome size/shape ✓ Examiner’s Comments

Most candidates were able to identify the

source of fetal cells. In order to explain why
karyotyping cannot be used to test for CF,
candidates had to have some knowledge
of the cause of CF.
Exemplar 3

This response describes the cause of CF.

Any idea of CF being a gene mutation
would be sufficient. The response also
explains why it would not be picked up on
a karyotype.

Total 10

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