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Exampro GCSE Biology: B2.5 Inheritance

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0% found this document useful (0 votes)
304 views35 pages

Exampro GCSE Biology: B2.5 Inheritance

Uploaded by

Meera Para
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
You are on page 1/ 35

Exampro GCSE Biology Name:

B2.5 Inheritance Class:


Higher tier

Author:

Date:

Time: 90

Marks: 90

Comments:

Page 1 of 35
Q1. Cats normally have four toes on each back paw.

The picture shows the back paw of a cat with an inherited condition called polydactyly.

By Onyxrain (Own work) [Public domain], via Wikimedia Commons

The family tree shows the inheritance of polydactyly in three generations of cats.

(a) What combination of alleles did the original parents, A and B, have?

Explain how you work out your answer.

You may use a genetic diagram in your answer.

Use the symbol H to represent the dominant allele.

Use the symbol h to represent the recessive allele.

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

A = ................................................... B = ......................................................
(4)
Page 2 of 35
(b) (i) Give two possible combinations of alleles for cat D.

1 .................................................... 2 ....................................................
(1)

(ii) You cannot be sure which one of these two is the correct combination of alleles for
cat D.

Why?

...............................................................................................................

...............................................................................................................

...............................................................................................................
(1)
(Total 6 marks)

Q2. (a) Mr and Mrs Smith both have a history of cystic fibrosis in their families.
Neither of them has cystic fibrosis.
Mr and Mrs Smith are concerned that they may have a child with cystic fibrosis.

Use a genetic diagram to show how they could have a child with cystic fibrosis.

Use the symbol A for the dominant allele and the symbol a for the recessive allele.

(3)

Page 3 of 35
(b) Mr and Mrs Smith decided to visit a genetic counsellor who discusses embryo screening.

Read the information which they received from the counsellor.

• Under an anaesthetic five eggs will be removed from Mrs


Smith’s ovary.

• The eggs will be fertilised in a dish using Mr Smith’s sperm


cells.

• The embryos will be grown in the dish until each embryo has
about thirty cells.

• One cell will be removed from each embryo and tested for
cystic fibrosis.

• A suitable embryo will be placed into Mrs. Smith’s uterus and


she may become pregnant.

• Any unsuitable embryos will be killed.

(i) Suggest why it is helpful to take five eggs from the ovary, rather than just one.

...............................................................................................................

...............................................................................................................
(1)

(ii) Evaluate the use of embryo screening in this case.

Remember to give a conclusion as part of your evaluation.

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................
(4)
(Total 8 marks)

Page 4 of 35
Q3. In the 1860s, Gregor Mendel studied inheritance in nearly 30 000 pea plants. Pea plants can
produce either round seeds or wrinkled seeds.

(a) Mendel crossed plants that always produced round seeds with plants that always
produced wrinkled seeds.

He found that all the seeds produced from the cross were round.

Use the symbol A to represent the dominant allele and a to represent the recessive allele.

Which alleles did the seeds from the cross have? ............................................................
(1)

(b) Mendel grew hundreds of plants from the seeds of the offspring.
He crossed these plants with each other.

(i) Mendel’s crosses produced 5496 round pea seeds and 1832 wrinkled pea seeds.

Explain why Mendel’s crosses gave him these results.

In your answer you should use:

• a genetic diagram

• the symbols A and a.

(3)

Page 5 of 35
(ii) One of Mendel’s crosses produced 19 round seeds and 16 wrinkled seeds.

These numbers do not match the expected ratio of round and wrinkled seeds.

Suggest why.

...............................................................................................................

...............................................................................................................
(1)

(c) The importance of Mendel’s discovery was not recognised until many years after his
death.

Give one reason why.

........................................................................................................................

........................................................................................................................
(1)
(Total 6 marks)

Q4. Cystic fibrosis and Huntington’s disease are inherited disorders.

(a) Someone can be a carrier of cystic fibrosis.

Explain how.

You may include a genetic diagram in your answer.

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

(2)
Page 6 of 35
(b) Why does only one parent need to have the Huntington’s disease allele for a child to inherit
Huntington’s disease?

........................................................................................................................

........................................................................................................................
(1)
(Total 3 marks)

Q5. A certain allele increases the chance of women developing one type of breast cancer.

A woman has this allele. She wants to be sure that she will not have daughters who also have
the allele.

Doctors:

• collect several eggs from her ovaries

• fertilise the eggs with sperm, in dishes.

(a) The doctors expect half the embryos produced to be female.

Explain why.

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................
(2)

(b) The embryos grow to around 100 cells.

Doctors:

• remove one cell from each embryo

• check the cell for the allele.

Complete the sentence.

This process is known as embryo ............................................................ .


(1)

Page 7 of 35
(c) One of the female embryos did not have the allele.
This female embryo was implanted into the woman’s uterus.

Evaluate the advantages and disadvantages of the whole procedure.

Use information from all parts of this question and your own knowledge.

Remember to give a conclusion to your evaluation.

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................
(4)
(Total 7 marks)

Page 8 of 35
Q6. The photographs show the flowers of two closely-related species of plant.

Species A Species B

Images: © iStock/Thinkstock

The drawings show chromosomes from one cell in the root of each plant during cell division.

Species A Species B

One One
chromosome chromosome

(a) The drawings show that each chromosome has two strands of genetic material.

(i) How does a chromosome become two strands?

...............................................................................................................

...............................................................................................................
(1)

(ii) Explain why each chromosome must become two strands before the cell divides.

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................
(2)

(b) For sexual reproduction, the plants produce gametes.

(i) Name the type of cell division that produces gametes.


.....................................................
(1)

Page 9 of 35
(ii) How many chromosomes would there be in a gamete from each of these two plant
species?

Species A Species B
(1)

(iii) It is possible for gametes from Species A to combine with gametes from Species B
to produce healthy offspring plants.
How many chromosomes would there be in each cell of one of the offspring

plants?
(1)

(c) (i) Look back at the information at the start of the question and the information from part
(b).

What evidence from these two pieces of information supports the belief that
Species A and Species B evolved from a common ancestor?

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................
(2)

Page 10 of 35
(ii) For successful gamete production to take place, chromosomes that contain the same
genes must pair up.

The drawings showing the chromosomes of Species A and of Species B are repeated
below.

Species A Species B

The offspring plants cannot reproduce sexually.

Suggest an explanation for this.

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................
(2)
(Total 10 marks)

Q7. People with cystic fibrosis make large amounts of thick, sticky mucus in their lungs.
Cystic fibrosis is caused by the inheritance of recessive alleles.

(a) What do each of the following mean?

(i) Alleles

...............................................................................................................

...............................................................................................................
(1)

(ii) Recessive

...............................................................................................................

...............................................................................................................
(1)

Page 11 of 35
(b) Mr and Mrs Brown have a child with cystic fibrosis. They hope to have another child. They
want to know the probability that their next child will have cystic fibrosis. They visit a
genetic counsellor who explains, “You are both heterozygous for cystic fibrosis. There is a
1 in 4 (25%) chance that your next child will have cystic fibrosis.”

Use the following symbols in answering the questions.

N = allele for being unaffected by cystic fibrosis


n = allele for cystic fibrosis

(i) Mr and Mrs Brown both have the same genotype.

What is their genotype? ..................................................................................


(1)

(ii) There is a 1 in 4 chance that Mr and Mrs Brown’s next child will have cystic fibrosis.
Use a genetic diagram to explain why.

(3)

(c) Mr and Mrs Brown do not want to have another child with cystic fibrosis. The genetic
counsellor explains two different methods for finding out whether an embryo has cystic
fibrosis. The methods are:

• pre-implantation genetic diagnosis (PGD)

• chorionic villus sampling (CVS).

In PGD, eggs are fertilised in dishes and allowed to grow into embryos. A cell is taken from
each embryo when the embryo is 3 days old. The photograph shows how the cell is taken.

Photograph: © Pascal Goetgheluck/


Science Photo Library

Page 12 of 35
The DNA in the cell can then be tested. The possibility of a false positive result is about 1
in 6. An unaffected embryo can then be placed in the woman’s uterus. The procedure
costs about £6000.

CVS can only be done after 9 weeks of pregnancy. A tiny piece of the placenta is taken out
using a tube attached to a syringe. This is grown in tissue culture for about 7 days. The
diagram below shows how CVS is done.

Page 13 of 35
The DNA in the cells can then be tested. About 2 in every 100 women have a miscarriage
because of CVS. The possibility of a false positive result is about 1%. The procedure costs
about £600. Following a positive result, the parents must then decide whether to terminate
the pregnancy.

The genetic counsellor thinks that PGD is a better method than CVS for detecting cystic
fibrosis in an embryo.

Evaluate this opinion.

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................
(4)
(Total 10 marks)

Page 14 of 35
Q8. Read the information about stem cells.

Stem cells are used to treat some human diseases.


Stem cells can be collected from early embryos. These stem cells have not begun to
differentiate, so they could be used to produce any kind of cell, tissue or organ. The
use of embryonic stem cells to treat human diseases is new and, for some diseases,
trials on patients are happening now.
Stem cells can also be collected from adult bone marrow. The operation is simple but
may be painful. Stem cells in bone marrow mainly differentiate to form blood cells.
These stem cells have been used successfully for many years to treat some kinds of
blood disease. Recently there have been trials of other types of stem cell from bone
marrow. These stem cells are used to treat diseases such as heart disease.

Evaluate the use of stem cells from embryos or from adult bone marrow for treating human
diseases.

You should give a conclusion to your evaluation.

.................................................................................................................................

.................................................................................................................................

.................................................................................................................................

.................................................................................................................................

.................................................................................................................................

.................................................................................................................................

.................................................................................................................................

.................................................................................................................................

.................................................................................................................................

.................................................................................................................................
(5)
(Total 5 marks)

Page 15 of 35
Q9. The diagram shows some of the cell divisions that occur during human reproduction.

(a) (i) Name the type of cell division that produces cell D from cell B.

...............................................................................................................
(1)

(ii) Which organ in the male body produces cell C from cell A?

...............................................................................................................
(1)

(b) (i) Cells A and B each contain 46 chromosomes.

How many chromosomes would there be in the nucleus of cell C?


(1)

(ii) Why is it important that cell C has this number of chromosomes?

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................
(2)
(Total 5 marks)

Page 16 of 35
Q10. A certain gene codes for the production of an enzyme called ‘HEXA’.

One human genetic disorder causes damage to nerve cells in the brain.
This disorder is caused by a small change in the DNA of the HEXA gene.
People with this disorder make a changed HEXA enzyme that does not work.

(a) Explain how a change in the DNA of the HEXA gene can result in the production of a
changed HEXA enzyme that does not work.

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................
(3)

(b) The gene coding for the HEXA enzyme is found on chromosome number 15.

(i) How many chromosomes are there in the nucleus of a human nerve cell? ...............
(1)

(ii) A boy had the changed HEXA gene on the chromosome number 15 that he inherited
from his father.
The changed HEXA gene coded for a HEXA enzyme that does not work.
The boy did not develop the genetic disorder.

Explain why the boy did not develop the genetic disorder.

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................
(2)

Page 17 of 35
(iii) The boy grew up and got married.

A blood test showed that his wife had also inherited the same changed HEXA gene.

There is a 1 in 4 chance that this couple’s first child will have the genetic disorder.

Use a genetic diagram to explain why.

Use the following symbols in your explanation:

H = allele for making the normal HEXA enzyme


h = allele for making a HEXA enzyme that does not work.

(3)
(Total 9 marks)

Q11. (a) Mr and Mrs Smith both have a history of cystic fibrosis in their families.
Neither of them has cystic fibrosis.
Mr and Mrs Smith are concerned that they may have a child with cystic fibrosis.

Use a genetic diagram to show how they could have a child with cystic fibrosis.

Use the symbol A for the dominant allele and the symbol a for the recessive allele.

(3)

Page 18 of 35
(b) Mr and Mrs Smith decided to visit a genetic counsellor who discussed embryo screening.

Read the information which they received from the genetic counsellor.

• Five eggs will be removed from Mrs Smith's ovary while she is under an
anaesthetic.
• The eggs will be fertilised in a dish using Mr Smith’s sperm cells.
• The embryos will be grown in the dish until each embryo has about
thirty cells.
• One cell will be removed from each embryo and tested for cystic
fibrosis.
• A suitable embryo will be placed into Mrs Smith’s uterus and she may
become pregnant.
• Any unsuitable embryos will be destroyed.

(i) Suggest why it is helpful to take five eggs from the ovary and not just one egg.

...............................................................................................................

...............................................................................................................
(1)

(ii) Evaluate the use of embryo screening in this case.

Remember to give a conclusion to your evaluation.

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................
(4)

Page 19 of 35
(c) In someone who has cystic fibrosis the person’s mucus becomes thick.

The diagram shows how, in a healthy person, cells at the lung surface move chloride ions
into the mucus surrounding the air passages.

The movement of chloride ions causes water to pass out of the cells into the mucus.

Explain why.

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................

........................................................................................................................
(3)
(Total 11 marks)

Page 20 of 35
Q12. CADASIL is an inherited disorder caused by a dominant allele.

CADASIL leads to weakening of blood vessels in the brain.

The diagram shows the inheritance of CADASIL in one family.

(a) CADASIL is caused by a dominant allele.

(i) What is a dominant allele?

...............................................................................................................

...............................................................................................................
(1)

(ii) What is the evidence in the diagram that CADASIL is caused by a dominant allele?

...............................................................................................................

...............................................................................................................
(1)

(iii) Person 7 has CADASIL.

Is person 7 homozygous or heterozygous for the CADASIL allele?

Give evidence for your answer from the diagram.

...............................................................................................................

...............................................................................................................
(1)

Page 21 of 35
(b) Persons 7 and 8 are planning to have another baby.
Use a genetic diagram to find the probability that the new baby will develop into a person
with CADASIL.

Use the following symbols to represent alleles.

D = allele for CADASIL


d = allele for not having CADASIL

Probability = ........................................................................
(4)

(c) Scientists are trying to develop a treatment for CADASIL using stem cells.

Specially treated stem cells would be injected into the damaged part of the brain.

(i) Why do the scientists use stem cells?

...............................................................................................................

...............................................................................................................

...............................................................................................................

...............................................................................................................
(2)

(ii) Embryonic stem cells can be obtained by removing a few cells from a human
embryo. In 2006, scientists in Japan discovered how to change adult skin cells into
stem cells. Suggest one advantage of using stem cells from adult skin cells.

...............................................................................................................

...............................................................................................................
(1)
(Total 10 marks)

Page 22 of 35
M1. (a) A = Hh B = Hh
may not be in answer space
accept heterozygous or description
1

(allele for) polydactyly is dominant or polydactyly is H,


for marking points 1, 2 and 3 accept evidence in clearly labelled /
annotated genetic diagram
1

cats with polydactyly have H


accept if polydactyly was recessive all offspring would have
polydactyly
1

E or (some) offspring of A and B, does not have polydactyly,


so A and B must both have h
1

(b) (i) HH and Hh or


homozygous dominant and heterozygous
both required, in either order
allow description
1

(ii) any one from:


accept annotated genetic diagram to explain answer

• polydactyly is dominant

• parents are both Hh

• if D is Hh all offspring could inherit H


1
[6]

M2. (a) both parents Aa


accept other upper and lower case letters without key or symbols
with a key
allow shown as gametes in punnet square
1

aa in offspring correctly derived from parents /


aa correctly derived from the parents given
ignore other offspring / gametes for this mark parents do not have
to be correct
1

offspring aa identified as having cystic fibrosis


may be the only offspring shown or circled / highlighted / described
1

Page 23 of 35
(b) (i) any one from:
accept converse if clear eg if you (only) took one it might have
cystic fibrosis / might not be fertilised

• sure / greater chance of healthy / non-cystic fibrosis egg / embryo /child


accept some may have the allele
reference to suitable embryo is insufficient

• greater chance of fertilisation


1

(ii) to gain 3 marks both advantages and disadvantages must be given

advantages
any two from
ignore references to abortion unless qualified by later screening

• greater / certain chance of having child / embryo without cystic fibrosis /


healthy

• child with cystic fibrosis difficult / expensive to bring up

• cystic fibrosis (gene / allele) not passed on through generations

disadvantages
any two from:

• operation dangers eg infection


ignore risk unqualified

• ethical or religious issues linked to killing embryos


accept wrong / cruel to kill embryos accept right to life

• (high) cost

• possible damage to embryo (during testing for cystic fibrosis / during operation)
3

plus

conclusion

a statement that implies a valued, qualified judgement

eg it is right because the risk of infection is small

or
eg it is wrong because embryos are killed
Note: the conclusion mark cannot be given unless a reasonable
attempt to give both an advantage and a disadvantage has
(already) been made
do not award the mark if the conclusion only states that
advantages outweigh disadvantages
1
[8]

Page 24 of 35
M3. (a) Aa
allow dominant and recessive
allow heterozygous
1

(b) (i) gametes A, a and A, a


max 1 if gametes are incorrect (eg in punnet square)
1

correctly derived offspring from cross


allow ecf from their gametes
1

identification of round and wrinkled offspring


for this mark the phenotype of each different offspring genotype
must be indicated
1

(ii) (due to) chance or expected ratio is only a probability


accept the idea of small numbers not representative
ignore anomaly / random / coincidence
do not accept error
1

(c) any one idea from:

• genes / chromosomes / alleles / DNA not discovered / known about


do not accept religious theme (ie confusion with Darwin’s difficulties
with the church)

• published in obscure journal / few scientists read his work


1
[6]

M4. (a) cystic fibrosis (allele / gene) recessive


allow an annotated genetic diagram
1

carrier has only one cystic fibrosis allele / gene


accept carrier is heterozygous
accept any symbol with key or
accept conventional use of symbols
penalise use of chromosome once only
1

Page 25 of 35
(b) any one from:

• Huntington’s (allele / gene) dominant

• (to have Huntington’s) need only one Huntington’s allele / gene


1
[3]

M5. (a) half / 50% sperm have X (chromosome)


or
half / 50% sperm have Y (chromosome)
penalise incorrect use of gene / allele once only
1

all eggs have X (chromosome)


annotated genetic diagram could gain 2 marks
1

(b) screening
ignore selection
1

(c) any three from:


max 2 if only advantages or only disadvantages discussed

advantages:(max 2)

• (girl / children / women) don’t / less likely to get / inherit (breast) cancer / this / the
disease
do not accept reference to allele alone for this point

• future generations get less cancer or less likely to have the allele

• less expensive (for NHS) than treating cancer

disadvantages:(max 2)

• (wrong / immoral to) reject / kill embryos


ignore wrong / immoral / religious argument unqualified

• possible harm to embryo (that is implanted) / miscarriage


ignore reference to termination

• possible harm to mother (due to operational procedure)


allow reference to needing hormone treatment
3

argued conclusion
must refer to both advantages and disadvantages and must be at
end of answer
1
[7]

Page 26 of 35
M6. (a) (i) DNA replication / copies of genetic material were made
’it’ = a chromosome
allow chromosomes replicate / duplicate / are copied
ignore chromosomes divide / split / double
1

(ii) one copy of each (chromosome / chromatid / strand) to each offspring cell
ignore ref. to gametes and fertilisation
1

each offspring cell receives a complete set of / the same genetic material
allow ‘so offspring (cells) are identical’
1

(b) (i) meiosis


allow mieosis as the only alternative spelling
1

(ii) Species A = 4 and Species B = 8


1

(iii) sum of A + B from (b)(ii) e.g. 12


1

(c) (i) similarities between chromosomes


or
similarities between flowers described
e.g. shape of petals / pattern on petals / colour / stamens
1

can breed / can sexually reproduce


allow can reproduce with each other / they can produce offspring
1

(ii) any two from:

• offspring contain 3 copies of each gene / of each chromosome / odd


number of each of the chromosomes

• some chromosomes unable to pair (in meiosis)

• (viable) gametes not formed / some gametes with extra / too many
genes / chromosomes

or
some gametes with missing genes / chromosomes
2
[10]

M7. (a) (i) (alternative) forms / types of a / the same gene


1

(ii) only expressed if 2 copies inherited


or not expressed if other allele present
allow over ruled / over powered by the other allele
1

Page 27 of 35
(b) (i) Nn
ignore heterozygous
1

(ii) genetic diagram including:


accept alternative symbols, if defined

gametes: N and n from both parents


accept alternative symbols if correct for answer to (b)(i)
1

correct derivation of offspring genotypes:


NN Nn Nn nn
allow if correct for candidate’s parental genotypes / gametes
1

identification of nn as having cystic fibrosis


1

(c) Argued evaluation

any four from:

• PGD higher financial cost


accept CVS only costs £600

• PGD occurs before pregnancy / implantation


accept detected at earlier stage so less unethical / less trauma

• PGD does not involve abortion so less trauma / less pain / ethical • PGD higher
incidence of false positive / use of numbers so higher risk of
destroying healthy embryo
accept PGD has (surplus) embryos so some destroyed / unethical

• PGD no chance of miscarriage whereas CVS does


or PGD less chance of miscarriage
4
[10]

Page 28 of 35
M8. Marks should not be awarded for simply copying the information provided
A mark may be awarded for a comparison between treatments if the answer only involves
copied information

any four from:


For all 4 marks to be awarded, there must be at least 1 pro and 1
con

embryo stem cells – examples of

pros

• can treat a wide variety / lots of diseases / problems

• many available / plentiful

• using them better than wasting them

• painless

cons

• (possible) harm / death to embryo

• (relatively) untested / unreliable / may not work


allow long term effects not known
or may be more risky

• embryo can’t be ‘asked’ / ‘embryo rights’ idea

adult bone marrow stem cells – examples of

pros

• no ethical issues (in collection) or permission given

• quick recovery

• (relatively) safe
allow does not kill (donor) / low risk

• well tried / tested / know they work

cons

• operation hazards eg infection

• few types of cell / tissue produced or few diseases / problems treated

• painful so may deter donors


4

Conclusion to evaluation:

A reasoned conclusion from the evidence


1
[5]

Page 29 of 35
M9. (a) (i) meiosis
allow mieosis
1

(ii) testis / testes


allow testicle
1

(b) (i) 23
1

(ii) fuses / joins with cell D / with egg cell or used in fertilisation
allow fuse with another cell
1

prevents doubling of chromosome number / restores original no. / 46 / diploid


no. / normal no. / full no.
accept 23 from each parent / from each gamete
1
[5]

M10. (a) changes code /sequences of bases


or
sequence of amino acids is different
1

the enzyme has different / wrong shape / structure


allow the active site is changed
1

so substrate will not fit into enzyme / will not join to enzyme
1

(b) (i) 46
allow 23 pairs
1

(ii) also inherited (from mother) normal chromosome 15 / normal allele / normal
gene / boy is heterozygous / Hh
allow the boy is a carrier
1

(allele for) this disorder is recessive


or
the normal allele would give a working enzyme
ignore converse
1

(iii) genetic diagram including:

Parental gametes:

H and h from both parents


accept alternative symbols, if defined
1

Page 30 of 35
derivation of offspring genotypes:

HH Hh Hh hh
allow alternative if correct for student’s parental genotypes /
gametes
1

identification of hh (having the disorder) if 1 in 4


1
[9]

M11. (a) both parents Aa


accept other upper and lower case letter without key or symbols
with a key
allow as gametes shown in Punnett square
1

aa in offspring correctly derived from parents


or
aa correctly derived from the parents given
ignore other offspring / gametes
for this mark parents do not have to be correct
1

offspring aa identified as having cystic fibrosis


may be the only offspring shown or circled / highlighted / described
1

(b) (i) any one from:


accept converse if clear, eg if you (only) took one it might have
cystic fibrosis / might not be fertilised

• (more) sure / greater chance of healthy / non-cystic fibrosis egg /


embryo / child
accept some may have the allele
reference to ‘suitable / good embryo’ is insufficient

• greater chance of fertilisation


1

(ii) advantages
to gain 3 marks both advantage(s) and disadvantage(s) must
be given
max 3

Page 31 of 35
any two from:
ignore references to abortion unless qualified by later screening

• greater / certain chance of having child / embryo without cystic fibrosis /


healthy

• child with cystic fibrosis difficult / expensive to bring up

• cystic fibrosis (gene / allele) not passed on to future generations

disadvantages

any two from:

• operation dangers / named eg infection


ignore risk unqualified

• ethical or religious issues linked with killing embryos


accept wrong / cruel to embryos accept right to life argument
ignore embryos are destroyed

• (high) cost of procedure

• possible damage to embryo (during testing for cystic fibrosis / operation)

plus

conclusion

a statement that implies a qualified value judgement


eg it is right because the child will (probably) not have cystic fibrosis even
though it is expensive
or
eg it is wrong because embryos are killed despite a greater chance of having a
healthy baby
note: the conclusion mark cannot be given unless a reasonable
attempt to give both an advantage and a disadvantage is made
do not award the mark if the conclusion only states that
advantages outweigh the disadvantages
1

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(c) any three from:

• osmosis / diffusion
do not accept movement of ions / solution by osmosis / diffusion

• more concentrated solution outside cell / in mucus


assume concentration is concentration of solute unless answer
indicates otherwise or accept correct description of ‘water
concentration’

• water moves from dilute to more concentrated solution


allow correct references to movement of water in relation to
concentration gradient

• partially permeable membrane (of cell)


allow semi / selectively permeable
3
[11]

M12. (a) (i) allele expressed even when other allele present or expressed if just one copy of
allele is present or expressed if heterozygous
if present other allele not expressed
1

(ii) 2 affected parents have unaffected child or 1 and 2 → 5 / 6

or if recessive all of 1 and 2’s children would have CADASIL


1

(iii) heterozygous – has unaffected children or because if homozygous all children


would have CADASIL
1

(b) genetic diagram including:


accept alternative symbols, if defined
1

correct gametes:

D and d
and d (and d)
ignore 7 / 8 or male / female
1

derivation of offspring genotypes:

Dd Dd dd dd
allow just Dd dd if ½-diagram
allow ecf if correct for student’s gametes
1

identification of Dd as CADASIL
or dd as unaffected
allow ecf if correct for student’s gametes
1

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correct probability: 0.5 / ½ / 1 in 2 / 50% / 1 : 1
1

(c) (i) stem cells can differentiate or are undifferentiated / unspecialised


1

can form blood vessel cells / brain cells

or

stem cells can divide


1

(ii) ethical argument - eg no risk of damage to embryo or adult can give consent
for removal of cells or adult can re-grow skin
more ethical qualified
ignore religion unqualified

or
if from a relative then less chance of rejection or if from self then no chance of
rejection
or
skin cells more accessible
1
[10]

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