Genetics of Inheritance and Variation
Genetics of Inheritance and Variation
2 REPRODUCTION &
INHERITANCE
Gene Locus
1. (a) The gene for eye colour in this species of fruit fly has multiple alleles.
Homozygous fruit flies have two identical alleles for eye colour.
The table gives some information about these alleles.
(ii) Explain how these alleles can produce fruit flies with different coloured eyes.
Different alleles have a different DNA base sequence, which may result in a different protein being
produced. Flies may inherit two different alleles.
If the mother gives an allele for red eyes (R) and the father gives an allele for white eyes (r), the
fly will inherit two different alleles (Rr).
Depending on which allele is dominant, the fly’s eye colour will be determined (e.g., red if R is
dominant, white if both are recessive rr).
2. (c) Flower colour and pollen grain size are genetically determined in foxglove plants.
The linkage of the genes for flower colour and pollen grain size has been investigated.
(i) State what is meant by the term linkage with reference to these two genes.
Loci of the genes are being on same chromosome.
(ii) A statistical test can be used to analyse observed phenotype frequencies and expected phenotype
frequencies for the foxglove plants.
A Chi squared
B correlation coefficient
C standard deviation
D Student’s t-test
Two of the genes giving rise to this characteristic are found on chromosome 15.
(a) There is more than one version of each of the genes involved.
A allele
B locus
C phenotype
D polygenic
(b) Inheritance of different versions of these two genes shows genetic linkage.
Explain how the phenotypes of an individual can show genetic linkage in the inheritance of two genes.
Loci of the genes are being on the same chromosome. Therefore, the different versions of the two genes
have a higher chance of being {inherited together / not separated by crossing over}.
• the pair of chromosomes will be separated into different cells following mitosis meiosis I
• one chromosome was inherited from the mother and one chromosome was inherited from the father
A none
B one
C two
D three
Two causes of genetic diversity in this population are mutations and crossing over of non-sister
chromatids on homologous chromosomes.
(i) Name the stage of meiosis when crossing over of chromatids occurs.
Prophase I
(ii) Describe two other processes that can give rise to genetic variation in the offspring of the passion
flower.
(a) Complete this graph to show how the DNA content per cell would change when a cell, with 2 a.u. of
DNA, undergoes meiosis to produce gametes.
A centriole
B lysosome
C nucleolus
D ribosome
(b) Explain why it is possible for chromatid A to be genetically different from chromatid B.
(c) A student was asked to draw the four haploid cells produced by this cell in metaphase I of meiosis.
Due to crossing over and independent assortment. Crossing over results in different allele combinations
in the chromosomes. Independent assortment results in different combinations of chromosomes in
gametes.
(ii) Give two differences in the arrangement of the DNA in a cell at the beginning of interphase and at the
end of prophase I.
At the beginning of interphase, the DNA is in the nucleus whereas it is not at the end of prophase I.
At the beginning of interphase, the DNA is uncoiled whereas it is condensed at the end of prophase I.
At the beginning of interphase, the DNA has not been replicated whereas it has been replicated at the
end of prophase I.
5. (a) Liverworts reproduce sexually with gametes and asexually with spores.
The diagram shows the life cycle of a liverwort, which exists in two forms.
The diploid form contains 64 chromosomes and the haploid form contains 32 chromosomes.
(i) Complete the diagram to show the number of chromosomes in the female and male gametes.
(ii) Label the part of the diagram where meiosis would have occurred.
A mutation in a gene called ARD1 can cause arginase deficiency (AD), which can be fatal. The mutant
allele is recessive.
(a) It is estimated that 1 in 300 000 to 1 000 000 individuals have AD.
(i) It was suggested that this mutant allele arose in meiosis during prophase I.
Egg cells are haploid. Egg cell chromosomes have different alleles than body cell chromosomes, due to
mutations during DNA replication / crossing over / independent assortment.
The Chinese muntjac looks similar to the Indian muntjac. However, if they breed together, they produce
offspring that are infertile.
Because the parents are different species and maternal and paternal chromosomes would not pair up,
therefore, they cannot make {haploid / sperm / egg} cells.
8. (c) Sweet pea plants were used in an investigation into the inheritance of flower colour, pollen grain
length and pea pod shape.
Each of these traits is controlled by a single gene. Sweet peas have seven pairs of chromosomes.
The arrangement of these three genes on sweet pea chromosomes is shown in the diagram.
Meiosis increases genetic variation. The genes for flower colour and pollen grain length are linked,
therefore alleles for these traits will be inherited together / unlikely to be separated during crossing over.
The genes for pea pod shape and flower colour/pollen grain length are not linked, therefore the alleles
for these traits will be inherited independently due to independent assortment.
9. (ii) How many of the following combinations could result from one crossover of the chromosomes
shown in the diagram?
• AbE
• ABe
• abE
• abe
A one
B two
C three
D four
(iii) Explain why alleles b and e are more likely to be inherited together than alleles A and e.
Alleles b and e are closer together, therefore, crossing over is less likely to occur between these alleles.
10. Flowering plants such as the silver trumpet tree contain several ovules.
Explain how the silver trumpet tree produces seeds that are genetically different from each other.
Each male nucleus and egg cell nucleus from silver trumpet trees is genetically different from each other
due to crossing over of alleles between chromatids / mutation / independent assortment of
chromosomes in meiosis.
11. Meiosis increases genetic variation through independent assortment and crossing over.
A metaphase I
B metaphase II
C telophase I
D telophase II
(b) Genetic variation increases due to the production of new combinations of alleles.
Meiosis could produce the following percentages of gametes containing the combinations of alleles
shown in the table.
Explain why the percentages are not 25% for each combination of alleles.
Due to linkage. A and B are on same chromosome. AB and ab are not separated due to crossing over /
are inherited together. Ab and aB are formed by crossing over.
12. Egg cells vary in size.
(a) The table shows the size of egg cells from three species of animal.
(i) Which of the following shows the diameter, in standard form, of the egg cell of a blue poison dart
frog?
A 1.6 × 10–2 μm
B 1.6 × 102 μm
C 1.6 × 10–3 μm
D 1.6 × 103 μm
(ii) The egg cells of humans and blue poison dart frogs are approximately spherical.
Calculate how many times larger the volume of the blue poison dart frog egg cell is than the volume of a
human egg cell.
(b) An egg cell and a skin cell were removed from a female human.
Explain the differences between the genetic material from these two cells.
Egg cell contains 23 chromosomes therefore, fertilisation can occur to form a diploid zygote.
The genetic material in the egg cell is different from that in the skin cell due to meiosis, which introduces
variation through crossing over and independent assortment.
Complete the diagram below to show these chromosomes after crossing over has occurred.
Mammalian Gametes
1. A sperm cell is specialised for its function.
(i) Complete the diagram by drawing and labelling a flagellum and an acrosome.
(ii) Give the function of the mitochondria in the midpiece of the sperm.
The graph shows the relationship between midpiece length and swimming speed of sperm cells of mice.
(i) Give two conclusions that can be drawn from these data.
As the midpiece length increases so does the swimming speed of the sperm cells.
Males who mate with more than one female have sperm with a faster swimming speed.
Greater spread of data for males who mate with more than one female.
(ii) Give the name of a statistical test that could be used to assess the strength of the relationship
between length of midpiece and swimming speed of sperm cells.
correlation coefficient
A 1, 2 and 3
B 1 and 2 only
C 2 and 3 only
D 2 only
3. All living organisms are made of cells.
Draw a mammalian sperm cell showing the acrosome, the nucleus and a mitochondrion.
0.06:1
(iii) Explain three ways in which a mammalian egg cell is specialised for its functions.
Egg cell has zona pellucida to prevent additional sperm cells entering egg cell.
(a) The diagram shows an incomplete drawing of a human egg cell, drawn by a student.
(i) State the letter which shows the zona pellucida.
Cortical granules
Both birds have a helical membrane around part of their sperm cells.
(i) How many of the following statements about sperm cells are correct?
• The mid-piece of the sperm cell contains many mitochondria for anaerobic respiration. aerobic
A none
B one
C two
D three
(ii) Sperm cells with a larger acrosome to nucleus ratio have an increased swimming speed.
Calculate the acrosome to nucleus ratio for the reed bunting sperm cell shown in the table.
4.48 : 1 / 4.5:1
answer in range 4.3 to 4.7
(iii) The effect of the width of the helical membrane on the mean swimming speed of sperm cells from
different bird species was investigated.
The acrosome to nucleus ratio and the width of the helical membrane affect the swimming speed of
sperm cells.
Explain how these adaptations are related to the reproductive behaviour of these birds.
Use the information in the table and the graph to support your answer.
The mean swimming speed of sperm cells increases as width of helical membrane increases.
Reed bunting males need sperm cells with faster swimming speeds as the female Reed bunting mates
with more than one male.
Faster swimming sperm cells are more likely to fertilise egg cells.
Males with larger acrosome digest the zona pellucida more quickly.
(c) An individual organism that can produce both egg cells and sperm cells is said to be a hermaphrodite.
Blue dragons (Glaucus atlanticus) are sea slugs that are hermaphrodites and can be found in the Indian
Ocean.
Each individual can produce both egg cells and sperm cells for sexual reproduction with another blue
dragon.
AW
BX
CY
DZ
(ii) Calculate the magnification of the sperm cell shown in the diagram.
(iii) Compare and contrast the structure and function of lysosomes and acrosomes.
Similarities
Differences
A lysosome is involved with intracellular digestion whereas an acrosome is involved with extracellular
digestion.
A lysosome enzyme is involved in breaking down cell components whereas an acrosome enzyme is
involved in digesting the zona pellucida.
Male pike then release sperm cells that will fertilise the egg cells.
6.4
(ii) An unfertilised pike egg cell has a larger volume than a pike sperm cell.
Explain why an egg cell has a larger volume than a sperm cell.
(c) Pike sperm cells begin swimming when they are released into water.
A scientist investigated the speed of the sperm cells after they were released into water during February
and March.
Flagellum rotates.
As time after release into water increases, the sperm speed decreases.
7. The diagram shows some of the steps involved in the production of human sperm cells from an
unspecialised cell. This process involves both mitosis and meiosis.
(ii) Which part of the sperm cell contains enzymes that are released to break down the zona pellucida?
AW
BX
CY
DZ
Complete the table to show the correct statement for each structure found in gametes.
9. (a) The photograph shows an organelle taken from a sperm cell, as seen using an electron microscope.
The diagram shows a sperm cell.
AW
BX
CY
DZ
The effect of acrosin activity of samples of sperm cells on the percentage of egg cells fertilised was
investigated.
(i) Describe the role of one organelle involved in the production of this enzyme.
(ii) The investigation used 2500 egg cells for each sample of sperm cells.
Calculate the number of egg cells that would have been fertilised by sperm cells with 2.5 a.u. acrosin
activity.
800
(iii) Explain why a higher activity of the digestive enzyme acrosin resulted in a higher percentage of egg
cells being fertilised.
Because higher acrosin activity means the sperm cells can digest through all of the zona pellucida of
more egg cells, which allows sperm cells to enter egg cell, so that sperm cell nucleus can fuse with egg
cell nucleus. Low acrosin activity could result in death of sperm cells before fertilisation could occur.
10. (c) In vitro fertilisation (IVF) has been used to fertilise northern white rhino egg cells using the frozen
sperm samples.
The zona pellucida of some egg cells were damaged when they were removed from the ovaries of the
females.
(i) State how to calculate the actual size of this egg cell.
(ii) Suggest why this fertilised egg cell has three nuclei.
When a sperm entered the egg cell, the cortical reaction resulted in hardening of the zona pellucida.
However, as the zona pellucida of some egg cells are damaged, there are areas where it is not hardened,
resulting in an extra sperm have entered the egg cell.
Cortical reaction is the process in which cortical granules in the egg cell release enzymes that
harden the zona pellucida.
11. (b) The graph shows the speed of individual sperm compared with bundles of sperm in liquids of
different resistance.
Comment on the results of this investigation.
Individual sperm have slower speeds than bundled sperm in all resistances.
As resistance of the liquid increase up to 0.5 speed of sperm increases in both sperm bundles and
individual sperm.
No significant difference between sperm bundles and individual sperm because error bars overlap.
(c) In-vitro fertilisation (IVF) techniques are being developed to help conserve this endangered species of
leopard.
IVF involves the removal of egg cells from the female mice. The zona pellucida can be damaged during
this process.
Three hundred mouse egg cells were distributed equally in three Petri dishes containing nutrient
solutions.
The experiment was repeated for egg cells which had their zona pellucida damaged.
The graph shows the percentage of egg cells fertilised by more than one sperm (percentage polyspermy).
(i) When the highest sperm concentration was added to the egg cells with damaged zona pellucida, the
percentage polyspermy was 52%.
There was more polyspermy of egg cells when the zona pellucida was damaged due to cortical reactions
only occurring over some part of the egg cell, therefore some areas of the egg cell not being covered by
a hardened zona pellucida.
There was more polyspermy of egg cells with a higher sperm concentration.
Increased sperm cell concentration increased the likelihood of sperm cells entering egg cell before
cortical reaction occurred.
Rabbit sperm cells contain genetic information that will become part of the genotype of the offspring.
(a) Which labelled structure contains the genetic information used in the synthesis of acrosomal
enzymes?
AW
BX
CY
DZ
A1
B2
C3
D4
(iii) Calculate the magnification of the sperm cell shown in the diagram.
40 mm = 40000 μm
to 41000 μm
A female Chinese hamster mates with many males in a short period of time.
The diagram shows the relative size of a Chinese hamster sperm cell compared with a human sperm cell.
Suggest why the Chinese hamster sperm cell has such a long flagellum.
Sperm with longer flagellum have increased chance of fertilising the egg cell.
(a) The acrosome reaction is stimulated when a sperm cell binds to the ZP3 protein on the zona pellucida
of an egg cell.
Acrosome fuses with sperm cell membrane. Then, digestive enzymes / hydrolytic enzyme / acrosin are
released which digest the zona pellucida. This allows the sperm cell membrane to fuse with egg cell
membrane.
(b) When a sperm cell arrives at an egg cell surface it binds to a receptor on the egg cell surface
membrane.
(i) Suggest why some sperm cells may not be able to bind to the sperm receptor on the egg cell surface
membrane.
The sperm cell may not be able to get through zona pellucida to reach sperm receptor on egg cell
membrane.
Mutations.
(ii) Explain how more sperm cells are prevented from entering the egg cell.
Cortical granules fuse with the egg cell membrane and release enzymes, which harden the zona
pellucida to prevent other sperm from binding to sperm receptors. As a result, acrosome enzymes can
no longer digest the zona pellucida.
2. (b) Describe how the nucleus of a sperm cell enters an egg cell.
Acrosome fuses with sperm cell membrane. Then, digestive enzymes / hydrolytic enzyme / acrosin are
released which digest the zona pellucida. This allows the sperm cell membrane to fuse with egg cell
membrane, allowing the nucleus of a sperm cell to enter the egg cell.
Which of the following statements about human sperm cells are correct?
3. the release of energy from starch enables the rotation of the flagellum mitochondria
A 1, 2 and 3
B 2 and 3 only
C 2 only
D 3 only
(ii) The photograph shows a sperm cell being injected into a human egg cell during the process of in-vitro
fertilisation (IVF).
Scientists have suggested that one cause of human infertility is the production of egg cells with a zona
pellucida thickness greater than 18 μm.
The table shows the mean thickness of the zona pellucida of fertilised egg cells and unfertilised egg cells.
Another suggested cause of infertility is a longer time between sperm cell ejaculation and the cells
reaching an egg cell in the female.
Scientists wish to increase the number of successfully fertilised egg cells by IVF. They have proposed that
the technique of injecting recently obtained sperm cells should be used for egg cells with a zona
pellucida thicker than 18 μm.
Use the information provided in the question and your own knowledge to support your answer.
Fertilised egg cells have a thinner zona pellucida (ZP) than unfertilised egg cells.
Thicker ZP increases chance of infertility, because sperm may not be able to release enough hydrolytic
enzymes (acrosin) to digest the zona pellucida.
Increase chance of fertilisation using IVF as sperm cells do not need to digest ZP if they are injected into
egg cell.
Ethical issue: Spare embryos from IVF are destroyed which is taking a human life.
4. Variation between organisms occurs as a result of sexual reproduction and epigenetic modification.
Hermaphrodites can produce both egg cells and sperm. Approximately 300 sperm are produced first and
stored inside the nematode. After this, egg cells are produced.
The sperm of a hermaphrodite nematode can fertilise its own egg cells. This is called self-fertilisation.
However, when a hermaphrodite nematode mates with a male nematode, the sperm of the male
fertilises the egg cells. This results in 700 more egg cells being fertilised than when a hermaphrodite self-
fertilises. Half of these fertilised egg cells will result in male offspring.
Explain how the reproductive behaviour of these nematodes increases their chance of survival.
The reproductive behaviour of these nematodes increases their chance of survival because
hermaphrodites can self-fertilise, by fertilising their own egg cells using their own sperm cells. This
produces fewer nematode offspring and all offspring are likely to be hermaphrodites, as all gametes will
contain a sex chromosome.
Hermaphrodites can also reproduce with a male nematode. Males have only one chromosome, and if
hermaphrodite mates with a male, then about 700 more egg cells are fertilised. Half of the offspring will
be male.
If sperm cells without a sex chromosome fertilise an egg cell then the offspring will be male, while if
sperm cells with a sex chromosome fertilise an egg cell then the offspring will be hermaphrodites. This
means that half of the offspring will be hermaphrodites and half will be male, but half of the male sperm
cells will not contain a sex chromosome.
Males only have one sex chromosome.
When they make sperm, half of the sperm get that sex chromosome, and the other half get no sex
chromosome at all.
So:
If a sperm with a sex chromosome fertilises an egg cell → the zygote has two sex chromosomes →
offspring = hermaphrodite.
If a sperm without a sex chromosome fertilises an egg cell → the zygote has one sex chromosome →
offspring = male.
Sexual reproduction between a male nematode and a hermaphrodite increases the chance of survival.
Self-fertilisation leads to limited genetic variation in offspring while sexual reproduction results in
increased genetic variation of offspring.
(a) Explain how cortical granules ensure that the egg cell is diploid after fertilisation.
Cortical granules are released from the egg cell and they fuse with the egg cell membrane and release
enzymes, which harden the zona pellucida to prevent more than one sperm cell entering the egg cell.
Egg cell and sperm nuclei are haploid and they fuse to form diploid nucleus during fertilization.
• Some male animals have sperm cells with longer middle regions, as shown in the diagram.
The females of these species produce multiple egg cells and mate with many males in a short period of
time.
The graph shows the effect of the length of the middle region on the swimming speed of the sperm cell.
Some male animals, such as the zebra longwing butterfly, produce spermatophores that remain inside
the reproductive system of the female after mating.
The spermatophore contains sperm cells and nutrients for the female. The spermatophore also releases
chemicals that reduce the attractiveness of this female butterfly to other males.
Some female animals, such as the eastern box turtle, mate with numerous males and then store the
sperm for a number of years. This allows fertilized egg cells to be laid even when the female has not
mated in that year.
Comment on the effect that these three mating strategies would have on the reproductive success of the
males and females, and the genetic diversity of the offspring.
Increased length of mid region size increases swimming speed due to more mitochondria supplying more
ATP to move the flagella.
Spermatophore
Spermatophore contains sperm cells for fertilisation of egg cells, and the nutrients can be used by the
female to produce more egg cells. Chemicals in the spermatophore reduce the chances of other males
mating with the female, so there is an increased chance of that male’s sperm fertilising the egg cells.
Storage of sperm
The storage of sperm allows fertilised eggs to be produced in the absence of a mate. This increases
reproductive success for the female. Stored sperm increases the chance that offspring will have different
fathers. However, if the female does not mate with new males every year, genetic diversity could be
reduced.
6. (iii) Describe the events that occur after a sperm cell enters an egg cell, until a zygote is formed.
Cortical granules are released from the egg cell and they fuse with the egg cell membrane and release
enzymes, which harden the zona pellucida to prevent more than one sperm cell entering the egg cell.
Egg cell and sperm nuclei are haploid and they fuse to form diploid nucleus during fertilization.
(c) Analysis of some mouse egg cells showed that the lipid droplets were located within 10 nm of
mitochondria.
The mitochondria are located within 10 nm of the lipid droplets so that the distance between
mitochondria and lipid is very short. This allows quicker diffusion of lipid into the mitochondria. The
lipids can then be used in ATP production.
Fertilisation: Flowering Plants
1. (a) Pollen grains contain a generative nucleus.
A male nucleus formed from the generative nucleus is not involved with pollen tube formation.
B one male nucleus is needed to fertilise an egg cell nucleus to form the embryo
D two male nuclei are needed to fertilise a polar nucleus to form the endosperm
16 × 1000= 16 000 μm
The pollen grains will germinate and the pollen tubes will start to grow.
The pollen tube is created due to the release of digestive or hydrolytic enzymes. The nuclei are
transported to the ovule. The generative nucleus divides to form two haploid male nuclei. Double
fertilisation then occurs. One male nucleus fuses with the egg cell nucleus to form a zygote, while the
other male nucleus fuses with the two polar nuclei present in the ovule to form the endosperm nucleus.
When pollen grains land on the stigma of a flower, they germinate, meaning they start growing a
tube called the pollen tube.
The tube grows through the style toward the ovule.
Digestive or hydrolytic enzymes are released at the tip of the pollen tube. These enzymes digest
the tissues of the style, making a path for the tube to grow.
Inside the pollen tube, the nuclei (the male gametes) are transported down the tube toward the
ovule.
The generative nucleus in the pollen divides to produce two haploid male nuclei.
This prepares for double fertilisation, a process unique to flowering plants.
One male nucleus fuses with the egg cell nucleus → forms a zygote, which will develop into the
embryo (future plant).
The other male nucleus fuses with the two polar nuclei → forms the endosperm nucleus, which
will develop into tissue that provides nutrients to the embryo.
Describe the roles of the tube nucleus and the generative nucleus.
Tube nucleus
Controls the growth of the pollen tube.
Controls the production of {digestive / hydrolytic} enzymes, which allows the male nuclei to enter ovule.
Generative nucleus
4. The photograph shows some pollen tubes growing from pollen taken from a lily flower, as seen using a
light microscope.
(a) (i) The pollen tube growth rate is 0.2 μm s–1.
A 75 seconds
B 125 minutes
C 1 250 minutes
D 7 500 seconds
15×1000=15,000μm
time=distance/speed
75000/60=1250 minutes
(ii) State how to calculate the actual length of one of the pollen tubes in the photograph.
(b) The diagram shows a pollen tube that has grown to reach an ovule.
Fertilisation of the female polar nuclei results in the production of endosperm tissue.
Explain why an embryo cell and an endosperm cell contain different quantities of DNA.
The female gamete and the male nuclei are haploid. The female gamete nucleus was fertilised by one
male nucleus to form the embryo cell. Therefore, the embryo cell is diploid. In contrast, two polar nuclei
were fertilised by one male nucleus to form the endosperm cell. Therefore, an endosperm cell is triploid.
5. The photograph shows some pollen grains, as seen using an electron microscope.
(b) A pollen grain can produce a pollen tube that contains a generative nucleus.
The diagram shows the location of an embryo and endosperm tissue in a seed.
Describe how the generative nucleus results in the production of an embryo and endosperm tissue in a
seed.
The generative nucleus divides to form two haploid male nuclei. Double fertilisation then occurs. One
male nucleus fuses with the egg cell nucleus to form a zygote, while the other male nucleus fuses with
the two polar nuclei present in the ovule to form the endosperm nucleus.
Self-fertilisation occurs when male nuclei from a flower fertilises an egg cell in a flower on the same
plant.
Cross-fertilisation occurs when male nuclei from a flower on one plant fertilises an egg cell in a flower on
a different plant of the same species.
The image shows the female and male parts of a flower.
• Date palm plants have only male flowers or only female flowers.
• Some orchids release chemicals that prevent the germination of pollen produced by flowers of the
same plant.
Some plants have developed strategies to produce seeds if cross-fertilisation has not occurred.
• The fireweed plant species from North America will self-fertilise if cross-fertilisation has not occurred.
Discuss the advantages and disadvantages of the strategies shown by these plants.
chemical releasing plants prevent growth of pollen tube carrying male nuclei to ovule.
reduced chance of fertilization, because both male and female date palm plants need to be present in
the habitat.
mutations could cause some pollen from another plant to not develop a pollen tube.
7. (b) The diagram shows the nuclei in an ovule and a pollen tube in a flowering plant.
AP
BQ
CS
DT
AP
BS
CT
DU
AR
BS
CT
DU
AR
BS
CT
DU
8. (a) (i) How many of the following statements about a pollen grain are correct?
• the generative nucleus divides by mitosis to form two female gametes two haploid male gametes
A none
B one
C two
D three
(ii) The table gives information about the surface area and volume of round and long pollen grains.
Calculate the difference in surface area between round and long pollen grains.
9. (c) The endosperm of a grain of wheat develops from the endosperm nucleus, formed during
fertilisation.
Explain the role of the pollen tube and nuclei in the formation of the endosperm nucleus.
The pollen tube transports generative nucleus to ovary by releasing digestive enzymes. One of the male
nuclei fuses with the two polar nuclei present in the ovule to form the triploid endosperm nucleus.
This molecule has an effect on the interphase stage of the cell cycle shown in the diagram.
In an investigation, white blood cells were treated with different concentrations of PHA.
The graph shows the effect of this treatment on the number of white blood cells and the length of time
they were in interphase.
(i) State the relationship between the time in interphase and the number of cells.
(ii) Which is the correct percentage change in cell number from 0.0 to 1.0 μg cm–3 of PHA?
A –700 %
B –87.5 %
C +87.5 %
D +700 %
Cells proceed to mitosis quicker due to faster DNA replication. This results in an increase in the mitotic
index.
In anaphase of mitosis, the centromere splits and the spindle fibres contract. This pulls one copy of each
chromosome to the poles of the cell.
6 hours
(a) In the cell cycle, the time between two divisions of mitosis is called interphase.
At the start of interphase, the chromosomes are uncoiled. The DNA is then replicated. During interphase,
DNA also undergoes transcription.
Metaphase
(b) A person with Patau syndrome had three copies of chromosome 13 in each body cell.
This occurred due to an error in meiosis in the formation of his father’s sperm cells.
The diagram shows what happened to chromosome 13 during the formation of the father’s sperm cells.
(i) A zygote is formed at fertilisation.
Explain how an error in meiosis could result in the production of a zygote with three copies of
chromosome 13.
An error in meiosis occurs when the centromere does not divide in meiosis II, so sister chromatids are
not separated. This results in sperm D containing two chromosome 13s. The egg cell contains one
chromosome 13. When the male and female nuclei fuse at fertilisation, the zygote has three copies of
chromosome 13.
(c) An individual can also develop Patau syndrome if part of chromosome 13 becomes attached to a
different chromosome during prophase I.
Suggest a reason why part of chromosome 13 can become attached to a different chromosome when a
gamete is formed.
(i) Interphase is the part of the cell cycle when mitosis is not taking place.
1. cell growth
A 1 only
B 1 and 2 only
C 2 and 3 only
D 1, 2 and 3
(ii) The photographs show some stages in the cell cycle.
Which row shows the correct sequence of these stages in the cell cycle?
P = Prophase, where the cell Prepares to divides
M = Metaphase, where the chromosomes align along the Middle
A = Anaphase, where the chromosomes move Away from each other
T = Telophase, where Two nuclei reform
During prophase of mitosis, the chromosomes condense and the nuclear envelope breaks down. The
centrioles then produce spindle fibres.
(d) Some new cells produced by mitosis are used for repairing damaged tissues.
Some new cells produced by mitosis are used for growth of tissues.
(ii) Give one role, other than for growth or repair, for new cells produced by mitosis.
asexual reproduction
5. (c) One treatment for this type of cancer prevents the condensing of chromosomes of cancer cells.
A anaphase
B metaphase
C prophase
D telophase
(ii) The graph shows the effect of the mitotic index on the percentage survival for
Preventing the condensing of chromosomes would reduce number of cells in mitosis, which would lead
to a low mitotic index. Therefore, patients with cancer have a higher percentage survival.
Cell A was undergoing mitosis. The mass of DNA in the cell in prophase was 12 pg.
Cell B was undergoing meiosis. The mass of DNA in the cell in prophase I was 12 pg.
What would be the mass of DNA in each daughter cell produced at the end of mitosis and at the end of
meiosis?
7. The diagram shows some of the steps involved in the production of human sperm cells from an
unspecialised cell. This process involves both mitosis and meiosis.
step A) mitosis
(step B) meiosis
8. Mitosis and the cell cycle are involved in producing new cells.
(a) Describe the role of the cell cycle in producing new cells.
synthesis of organelles
growth of cell
replication of DNA
(a) The female Indian muntjac body cells have three pairs of chromosomes.
(i) Dividing cells can be taken from the body of a female Indian muntjac.
Draw one of these body cells showing the arrangement of chromosomes in the anaphase stage of
mitosis.
(ii) The diagram shows the relative proportions of time that a cell spends in each part of the cell cycle.
Calculate the angle that would represent anaphase plotted on this pie chart.
10°
10. The graph shows the changes in the DNA content of one cell during one cell cycle.
(a) (i) In which part of the graph is the DNA being replicated?
AJ
BK
CL
DM
(ii) In which part of the graph would the condensation of chromosomes be completed?
AJ
BL
CM
DN
(i) Name the stage of mitosis when spindle fibres begin to form.
Prophase
The spindle allows the attachment of centromeres to the spindle fibres, to allow the separation of the
(daughter) chromatids, so that each daughter cell gets identical genetic material.
iii) Draw a plant cell undergoing cell division, after mitosis has just finished.
11. (b) After cell division, the plant cells produced increase in size.
After cell division, plant cells increase in size because of water uptake. The increase in size is also due to
the synthesis of organelles. Therefore, there is synthesis of more cell membrane.
12. (b) A student studied beluga fish cells undergoing mitosis and meiosis.
Similarities
{independent/random} assortment occurs (in metaphase I) in meiosis whereas it does not occur in
mitosis (1)
meiosis involves homologous pairs of chromosomes (in metaphase I) and sister chromatids (in
metaphase II) whereas mitosis involves sister chromatids (1)
13. (b) In a mammalian cell, there was one Golgi apparatus with a diameter of 1.1 μm.
In a maize cell, there were 600 Golgi apparatus. The largest diameter of Golgi apparatus in the maize cell
was 0.5 μm.
(ii) The number and size of the Golgi apparatus in the maize cell increases during one stage of the cell
cycle.
In which stage of the cell cycle would the number and size of the Golgi apparatus increase?
A anaphase
B interphase
C prophase
D telophase
(iii) Suggest why the number and size of the Golgi apparatus change during the cell cycle.
During the cell cycle, two cells are formed from one cell. Therefore, the number and size of the Golgi in
each cell have to increase during interphase to provide enough cell contents for the two daughter cells
after mitosis has occurred. Number and size of the Golgi apparatus also change because increased
protein synthesis will occur in interphase.
14. Cells undergo cell division.
These cells do not show the correct order for the process of division by mitosis.
Which of the following shows the correct order for the process of division by mitosis?
(b) The graph shows the changes in the DNA content of a cell during one cell cycle.
(i) Explain the changes in the DNA content as shown by this graph.
DNA content remains constant during G1. Then, the DNA content doubles due to DNA replication. After
that, the cell divides therefore, it will produce two diploid daughter cells
15. A tendril is a modified leaf that can coil around anything it touches.
(a) A student investigated the mitotic index of cells in the tips of tendrils.
Acetic orcein stain was added to the tissues from the tips of the tendrils.
(i) Give one reason why the cells were stained in this investigation.
(ii) The photograph shows these cells, as seen using a light microscope.
AP
BQ
CR
DS
AP
BQ
CR
DS
(ii) In some embryo cells, interphase can last an average of nine hours.
The diagram shows the relative proportions of time spent in each part of the cell cycle.
(iii) Calculate the total number of cells resulting from one cell dividing by mitosis eight times.
2^8=256
(c) Ewing’s sarcoma is a type of cancer.
Resveratrol, SRT1720 and Vincristine are drugs used to kill cancer cells.
An investigation was carried out to determine the most effective treatment for patients with Ewing’s
sarcoma.
A anaphase
B metaphase
C prophase
D telophase
Calculation of Mitotic Index
1. (d) State how the mitotic index of a tissue could be calculated.
count number of cells in mitosis and the total number of cells. divide the number of cells in mitosis by
the total number of cells then multiply the answer by 100
The tissue had 450 cells in mitosis and the mitotic index was 37.5%.
450 ÷ 0.375=1200
The graph shows the number of cases of one type of cancer in a human population.
(a) (i) Deduce the effect of age and sex on the number of cases of this cancer.
as age increases the number of cases (of cancer in both sexes) increase (1)
(the number of cases in males continues to increase up to age 80) whereas the number of cases in
females decreases {between 70 to 80 / after 79} (1)
there is a difference between males and females because the inheritance of this cancer is sex-linked.
(ii) A city had a population of 2 million people. Three per cent (%) of this population were males over the
age of 80.
Calculate how many of the males over the age of 80 would have this cancer.
4. The mitotic index of four types of cancer cell culture was investigated.
(ii) Which cancer cell culture has the highest proportion of cells undergoing nuclear division?
A HOC8
B OVCAR5
C OVCAR8
D SKOV3
5. The five stages of cancer are used to describe the size and spread of a cancer in a human body.
(a) The mitotic index of a tissue can be used to determine the stage of cancer.
The table shows the number of cells that were counted in each stage of the cell cycle per mm2 of tissue,
taken from the same organ in each patient.
(ii) Using the data in the table, determine the stages of cancer in patients P and R.
(b) The graph shows the probability of survival for different stages of a cancer, after diagnosis.
Compare and contrast the probabilities of survival for the different stages of this cancer, as shown by the
graph.
similarity:
• the survival probability decreases over time (for all three stages) (1)
differences:
• stage I has the highest survival probability for all years whereas stage IV has the lowest probability for
all years (1)
• stage IV has the {fastest/steeper} decrease (in survival probability) / stage I has the slowest decrease
(in survival probability) (1)
33 and 150
Give one difference between a pluripotent stem cell and a totipotent stem cell.
totipotent (stem cell) can differentiate into {all / more} types of cell including {extra-embryonic cells.
(c) Society has approved the use of stem cells taken from starfish for research.
Suggest why society has approved the use of these stem cells.
because stem cells can differentiate into different cells. There are great medical implications of the
research in developing medical therapies. Additionally, starfish do not have a fully developed nervous
system.
2. (ii) The zygote would develop into a morula and then into a blastocyst.
3. (c) A fertilised egg cell develops into a morula and then a blastocyst.
A 1 and 2 only
B 1 and 3 only
C 2 and 3 only
D 1, 2 and 3
The diagram shows a morula beginning to develop on the yolk of a fertilised fish egg cell.
(ii) Suggest one function of the yolk in the fertilised fish egg cell.
(iii) Explain why some people think that research into cancer treatments should not use embryonic stem
cells.
because the use of embryonic stem cells means the destruction of an embryo, which some people
consider to be an ethical issue.
6. (b) The photograph shows a cell from the blastocyst stage of development.
A cytokinesis
B metaphase
C prophase
D telophase
(ii) State how the blastocyst cell was treated to show the stage of mitosis.
Compare and contrast the structure of a morula with the structure of a blastocyst.
Similarities
Differences
morula contains totipotent cells whereas blastocyst contains pluripotent cells (1)
morula is a solid ball of cells whereas blastocyst is a hollow ball of cells (1)
7. (c) Another treatment method could be stem cell therapy using either embryonic stem cells or human
induced pluripotent stem cells (hiPSC).
The hiPSCs are sourced from skin cells from a person without AD.
(ii) Explain why society may support the use of hiPSC stem cells to treat patients with AD.
because hiPSCs are from skin cells. Therefore, there is no destruction of embryos. Treatment occurs in
liver cells, so there are no changes to gametes. The treatment is long lasting.
8. (c) The nucleus of a sperm cell fuses with the nucleus of an egg cell to form a zygote.
A adult stem cells that can give rise to most types of cell in the body, including totipotent cells
B adult stem cells that can give rise to most types of cell in the body, excluding totipotent cells
C embryonic stem cells that can give rise to most types of cell in the body, including totipotent cells
D embryonic stem cells that can give rise to most types of cell in the body, excluding totipotent cells
9. (a) The body of this species of harvest mouse is 55 mm to 75 mm long and its tail is 50 mm to 75 mm
long.
The body of the Indian flat-haired mouse is 10 cm to 12 cm long and its tail is 7 cm to 8 cm long.
Calculate the percentage difference in minimum total length of the Indian flat-haired mouse compared
with the minimum total length of the harvest mouse.
170 - 105 = 65
Which of the following gives the mean volume of a lipid droplet in mm3 ?
A 2.85 × 10−6
B 2.85 × 10−3
C 2.85 × 103
D 2.85 × 106
(ii) Draw a circle around the part of the diagram that is a mouse morula.
10. The diagram shows three structures that form after the fertilisation of an egg cell.
(a) Explain why the cells in the morula are genetically identical.
The cells in the morula are genetically identical because they are all derived from the zygote. During
interphase, DNA are replicated. Therefore, each cell receives one identical copy of each chromosome.
Blastocyst
(ii) Stem cells can be used as a medical treatment when a patient has had a severe heart attack.
A severe heart attack can cause the death of heart muscle cells.
The medical treatment involves injecting stem cells into damaged areas of the heart muscle.
Suggest why injecting pluripotent stem cells may benefit a person who has had a severe heart attack.
because pluripotent stem cells have the ability to differentiate into most cell types. This allows them to
repair the damage caused to the heart mucle by the heart attack.
Post-Transcriptional Changes to
mRNA
1. (b) One gene from this starfish pluripotent stem cell produces pre-mRNA.
The diagram shows how three different strands of active mRNA are produced from one strand of
pre-mRNA.
The three active mRNA strands are produced by post-transcriptional modification of pre-mRNA. All
introns are removed by enzymes. Some exons are also removed to form each strand. strand 1 contains 9
exons, while strands 2 and 3 contain 10 exons. All three mRNA strands have 1, 4, 5, 6, 8, 9, and 10 exons.
3. (b) The development of an embryo into either a female or a male fruit fly is determined by two
different proteins.
The female specific Dsx-F protein leads to the development of a female fly and the male specific Dsx-M
protein results in a male fly.
Explain how this gene can give rise to either a female or a male fly.
post-transcriptional modification occurs during embryo development. In this process, introns in the Dsx
pre-mRNA are removed by enzymes, and some exons are also removed by enzymes. Translation of the
active mRNA then occurs at ribosome, which produces a different polypeptide. This results in either the
female-specific Dsx-F protein, which leads to female cell development, or the male-specific Dsx-M
protein, which leads to male cell development.
One gene can give rise to more than one type of protein through post-transcriptional changes to
the mRNA.
4. (b) One treatment for AD is mRNA therapy. In this therapy, people are given the mRNA molecules
needed for arginase production.
(active) mRNA only contains exons whereas pre-mRNA contains both introns and exons
The flow diagram shows how this vaccine causes body cells to produce a new protein.
(a) The diameter of one spherical liposome was 75 nm.
220893
The structure of pre-mRNA produced from transcription is different from the structure of active mRNA.
Similarities
• both contain the bases A,U,C,G / both contain a base, phosphate group and ribose (sugar) / both
contain phosphodiester bonds (1)
• an exon on pre-mRNA contains same base sequence as the matching exon on active mRNA (1)
Differences
(active) mRNA only contains exons whereas pre-mRNA contains both introns and exons
(i) When nerve cells are damaged in this starfish, the gene sox2 is activated.
(i) Suggest the role of the enzyme DNA methyltransferase (DNMT) in the process of DNA methylation.
DNA methyltransferase (DNMT) binds a methyl group to DNA, specifically to cytosine in the promoter
region.
(ii) Some cancers can be caused by the methylation of a tumour suppressor gene called RASSF1.
Tumour suppressor genes can slow down cell division or cause cell death.
Peperomin E is a drug that can cause the demethylation of the gene RASSF1.
These mice had identical lung cancer tumours at the start of the investigation.
Graph A shows the changes in tumour volume for each group, over 21 days.
Explain how treatment with these two drugs affects the activity of the RASSF1 gene and the changes in
tumours.
Use all of the information in part (c) and your own knowledge to support your answer.
• over the 21 days the tumour volume increased in all four groups
• there was the greatest increase in tumour volume in group A / lowest increase in group D
• group D increased in a similar way to group B and C until day 13 / group D decreases in volume after
day 15
• after 21 days there was the {greatest mean tumour mass in group A / untreated group} / after 21 days
there was the {lowest mean tumour mass in group D / current treatment}
• demethylation allows {transcription factors / RNA polymerase} to bind / DNA uncoils / euchromatin /
no supercoiling eq
• {RASSF1 / tumour suppressor} gene is transcribed / translation occurs / {RASSF1 / tumour suppressor}
protein synthesised
• {RASSF1 / tumour suppressor gene} protein slows down {cell division / growth of tumours} / suitable
suggestions of function of tumour suppressor protein e.g. disruption of spindle fibres (ignore gene slows
cell division etc)
• no information on starting mass of tumour / do not know if the mass of tumour increased with current
drug
• suitable comments on methodology of investigation e.g. only done on lung cancer tumours / short
time scale / don’t know long term effect / no comparison of side effects from different drugs / no SD bars
so unsure if significant difference between groups / small numbers of mice / no information on
controlled variables / overlapping of volume lines for the 2 peperomin concentrations / no current drug
concentration information
3. (d) Methylation of DNA can alter the expression of certain genes on chromosome 13.
(i) Explain how DNA methylation can alter the expression of some genes.
Methyl groups are added to a gene. This causes the genes to become switched off.
(ii) Explain why epigenetic changes to genes, such as DNA methylation, are passed on by mitosis.
DNA methylation is copied when the DNA is replicated. Therefore, daughter cells will contain the same
DNA methylation after cell division.
4. (c) Histone modification can affect gene expression, as shown in the diagram.
Histone modification occurs when a chemical group is added to a histone. Methylation is the addition of
a methyl group to histone, and acetylation is the addition of an acetyl group to histone. Histone
methylation causes DNA to be more tightly wrapped around histones, switching the gene off because
RNA polymerase cannot bind so transcription doesn’t occur. Histone acetylation causes DNA to be less
tightly wrapped around histones, switching the gene on because RNA polymerase can bind and
transcribe the gene.
5. (b) As the fish embryo develops, different types of body cells and tissues are formed.
All the cells in the skeletal muscle tissue contain the same genes as the morula cells.
Explain how these skeletal muscle cells can contain the same genes as the morula cells but be different
in structure and function.
Differential gene expression occurs, so only the genes needed for skeletal muscle cell formation are
active. This is due to epigenetic modification, (such as histone modification or DNA methylation). Only
the active genes are transcribed into mRNA, and translation of the mRNA occurs at the ribosome,
resulting in the formation of proteins needed in skeletal muscle cells.
6. (c) Structure B contains pluripotent stem cells.
Histone modification and DNA methylation are processes that occur when totipotent stem cells develop
into pluripotent stem cells.
Explain how these two processes alter the activation of genes in the cells.
Histone methylation causes DNA to be more tightly wrapped around histones, switching the gene off
because RNA polymerase cannot bind so transcription doesn’t occur.
7. (c) Another treatment method could be stem cell therapy using either embryonic
The hiPSCs are sourced from skin cells from a person without AD.
(i) Explain how a pluripotent stem cell could become a cell that synthesises arginase.
Pluripotent stem cells can differentiate into most types of cells through differential gene expression. the
gene for arginase is active due to epigenetic modification, (such as histone modification or DNA
methylation). Therefore, transcription occurs to produce the protein.
Arginase is an enzyme.
Explain what happens at step D for the cell to become a specialised sperm cell.
At step D, differential gene expression occurs, due to epigenetic modification (such as DNA methylation
or histone modification). Transcription of active genes produces mRNA, and translation occurs to form a
polypeptide. The proteins cause structural change to cells to change them into a specialised sperm cell.
Lung cancer can occur when this gene has increased methylation compared with the RB gene in normal
lung cells.
Explain why increased methylation of this gene could cause the growth of a tumour.
Methyl groups are added to the DNA, resulting in the gene being switched off. This methylation prevents
the binding of RNA polymerase, so translation of mRNA does not occur. Therefore, the RB protein isn’t
produced, and the cell cycle continues forming a tumour.
10. (b) Plants that grow from a sweet pea seed contain stem cells.
A stem cell in a plant can become a sclerenchyma cell through differential gene expression, caused by
epigenetic modification,( histone modification, or DNA methylation). Proteins are synthesised from the
active genes, which permanently modify the cell. These modifications include the synthesis of cellulose,
microfibrils, or lignin, leading to secondary thickening and lignification of the cell walls, forming a
sclerenchyma cell.
Histone modification can be passed onto zygotes. If enzyme M is present, the histone modification is
passed on to all chromosomes in the embryo after cell division in experiment 1. The cells divide by
mitosis, so the modification is maintained in daughter cells. If enzyme M is absent in the egg cell
cytoplasm, the histone modification decreases until it is no longer detected. histone modification
decreases because replicated DNA cannot be modified without enzyme M. Histone modification involves
the addition of chemical groups, such as methyl or acetyl groups, to histones.
12. (ii) Some of the cells undergoing mitosis were from a beluga morula whereas some of the cells were
from a beluga blastocyst.
Explain how the cells of the beluga morula change as they develop into the cells of the blastocyst.
Morula cells are totipotent, whereas blastocyst cells are pluripotent. differentiation occurs because some
genes are switched off in blastocyst cells, due to epigenetic modification, (DNA methylation, or histone
modification). Active genes are transcribed to produce mRNA, which is translated at the ribosomes. The
proteins produced determine or change the cell’s structure, forming pluripotent blastocyst cells.
The effect of the age of a chicken on the mass of the eggs it laid was investigated.
A statistical test can be used to see if there is a significant correlation between the age of a chicken and
the mass of her eggs.
The value generated by this statistical test will always be between −1.0 to +1.0.
The table shows the mass of eggs collected from chickens of different ages.
ΣD2= 159.5
(ii) Calculate the correlation coefficient, rs value, for this data using the formula:
957 ÷ 720
(iii) The null hypothesis is that there was no significant correlation between the age of the chicken and
the mass of the eggs laid.
Another scientist replicated this study and gained a correlation coefficient value of 0.38.
The table shows the critical values at the 95% probability level.
They tested this and got a number called a correlation coefficient, which tells you how strong the
relationship is. They got 0.38.
But to know if 0.38 is “strong enough” to matter, you compare it to a critical value from a table.
This value depends on how many chickens they looked at. The table shows values like 0.648 or
0.738.
0.38 is smaller than these numbers, which means the relationship isn’t strong enough to be
considered significant.
So, we accept the null hypothesis, which just means: “There’s no clear link between chicken age
and egg size.
13. (d) The graphs show the activity of two genes, T and U, as a mouse zygote (fertilised egg cell)
develops into a blastocyst.
Comment on the changes in the activity of these two genes.
The activity of gene T decreases during development, while the activity of gene U increases. Gene T is
switched off because the gene T protein is not produced once the blastocyst stage is reached. In
contrast, the product of gene U is needed at higher levels after the morula stage, so its activity increases.
14. (c) Explain why beta cells can produce insulin but other cells in the pancreas do not.
Beta cells can produce insulin because of cell specialisation. In other pancreas cells, the gene for insulin
production is switched off due to epigenetic modification, (DNA methylation, or histone modification). In
these beta cells, the gene is active or switched on, so transcription of active insulin occurs to produce
mRNA. Translation of this mRNA then leads to the synthesis of insulin protein.
15. (c) The genetically identical cells in a developing rabbit embryo will continue to divide by mitosis.
Some of the cells produced can undergo epigenetic modification as they develop into specialised cells.
Describe one form of epigenetic modification that could occur in the rabbit cells.
Either:
Or:
• (histone modification) causes the {switching off / silencing / activation} of gene(s) / (1)
16. (d) After fertilisation, the egg cell divides by mitosis to form a blastocyst.
A totipotent stem cell becomes a pluripotent stem cell through differential gene expression. Some genes
are switched off by epigenetic modification. Proteins are synthesised from the active genes, which
permanently modify the cell, resulting in a pluripotent stem cell.
Polygenic Inheritance & Continuous
Variation
1. (ii) The width of peony leaves is an example of polygenic inheritance.
Polygenic inheritance means a trait is controlled by more than one gene. Each of these genes can
have different alleles.
For peony leaves, the width is affected by several genes, not just one. So “one gene determines
leaf width” is wrong.
Because multiple genes influence the trait, there is a range of possible leaf widths, not just a few
distinct sizes. This is called continuous variation (like height in humans).
(i) State what is meant by polygenic inheritance with reference to this phenotype.
genes at different loci contribute to the (rate of egg laying / this characteristic)
(ii) Sketch a labelled graph to show the expected egg laying rate for a population of hens. (continuous
variation so graph must be like this)
accept suitable labels
individuals}
People who are Rhesus negative for one of these genes will have two recessive alleles.
For example, a person who is Rhesus D negative will have inherited two recessive d alleles.
The diagram shows the loci of these three genes on a pair of chromosomes.
(ii) Which of the following is the genotype of a person who is Rhesus negative for all three genes?
A ccddee
B ccddEe
C CcDdEe
D CCDDEE
(b) Seed colour in wheat is an example of polygenic inheritance. There are three genes thought to affect
seed colour (A, B, C). Each gene has a dominant and recessive allele.
The table below shows the phenotype of the wheat seed colour, the number of recessive alleles and the
frequency of seed colour in the offspring.
Explain this variation in the colour of wheat seeds.
• the greater the number of recessive alleles the lighter the colour of the seed / the greater the number
of dominant alleles the deeper the red colour (1)
In one species skin colour is polygenic and controlled by three genes: A, B, and C.
Two individuals heterozygous for each of these three genes were crossed.
The diagram shows the possible allele combinations present in the gametes and the offspring produced
in this cross.
The shading indicates the darkness of the skin colour of the offspring.
The graph shows the probability of the skin colours of the offspring from this cross.
(a) Explain why there is a large variation in the skin colour of the offspring produced from this cross.
Use information from the question, and your own knowledge, to help support your answer.
• description of table data e.g., the more dominant alleles present in the zygote increases the darkness
of the skin,
This is an example of polygenic inheritance, as skin colour is controlled by three genes (six alleles in total)
• recognition that {3 genes / 6 alleles} involved with this phenotype / each gamete contains 3 alleles
involved with this phenotype
• e.g., offspring have highest probability of inheriting {3 dominant alleles/medium skin colour}
• consideration that large variation due to crossing over of {genetic material / allele / DNA} in prophase I
• consideration of {environmental variation / mutation} increasing variation e.g. sun tan, DNA
methylation
• explanation of how {environmental variation / mutation} would increase variation e.g. pigment
production
(b) Suggest two reasons why individuals that have inherited the genotype AaBbCc, may have a darker
skin colour than other individuals with the same genotype.
• {increased/ more} exposure to {UV/sun} light (would result in a darker skin tone) (1)
• limited food source containing materials for pigment synthesis / disease killing pigment cells (1)
State what is meant by the term polygenic inheritance with reference to wombat height.
6. The phenotype of an organism is the result of interactions between the genotype and the
environment.
(a) Sketch a graph to show the distribution for a phenotype showing continuous variation in a
population.
Accept suitable labels e.g. phenotype / characteristic / height (cm) on x axis frequency / number of
individuals on y axis
7. The mass of individual Chinese white kidney beans varies. This is partly due to
polygenic inheritance.
(ii) Which of the following graphs represents the distribution of mass of these beans?
(b) The inheritance of height is another example of polygenic inheritance.
It is possible to predict how tall children could become when they reach adulthood.
3. Divide by two.
(i) A woman with a height of 1.59 m has a daughter. The father is 1.76 m tall.
1.61(m)
(ii) Explain why their daughter may not grow to be this height.
Other factors, like long-term illness, poor healthcare, or insufficient sleep, can also reduce the energy
available for growth.
Enzymes produced by the rabbits control the production of pigments in the fur.
One type of rabbit produces an enzyme that is inactive at the core body temperature of the rabbit.
Discuss how genes and the environment interact to produce the fur colour of these three types of rabbit.
Basic information
• phenotype is the result of interaction between the genotype and the environment / phenotype can
sometimes just be determined by genotype
• fur colour is affected by {genotype /allele combinations} and the {environment /(body) temperature}
Enzyme production
• the {gene / alleles} code(s) for the production of an enzyme involved in producing fur colour
• (active) mRNA is produced from the allele(s) leading to synthesis of {protein / enzyme}
Black rabbit
• black rabbit has the dominant allele (C) / is homozygous dominant / heterozygous dominant
Albino rabbit
• {Himalayan albino / chch, chca} produce the enzyme which becomes inactive at high temperatures
• the enzyme must be involved in producing the dark colour of the fur
Himalayan explanation
• the colour is not produced at body temperatures in Himalayan albino, causing the {warmer part of the
body to have white fur / cooler parts of the body to have dark fur}