Topic 7 Genetics, populations, evolution and ecosystems
Topic 7 Genetics, populations, evolution and ecosystems
Topic 7
Genetics, populations,
evolution and ecosystems
Model answer notes by @biologywitholivia
7.1 Inheritance
7.2Populations
7.4Populations in ecosystems
Required practical 12
AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
7.1 Inheritance
What is meant by the term genotype?
Variations of a particular gene (same locus) → arise by mutation (changes in DNA base sequence)
Codominant alleles Both alleles expressed / contribute to phenotype (if inherited together)
Homozygous Alleles at a specific locus (on each homologous chromosome) are the same
Heterozygous Alleles at a specific locus (on each homologous chromosome) are different
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Worked example: monohybrid cross (basic)
The dominant allele for the grey gene Parental phenotypes Non-grey Grey
G) in horses results in a coat colour
turning progressively grey. Parental genotypes gg Gg
The recessive allele (g) results in the Gamete genotypes g (and g) G and g
normal coat colour being
maintained (non-grey phenotype). Genetic diagram
Ratio 1:1
The inheritance of the ABO blood groups Parental phenotypes Blood group A Blood group B
in humans is controlled by three
alleles of a single gene, IA, IB and IO. Parental genotypes A O B O
II II
The alleles IA and IB are codominant,
and the allele IO is recessive to IA and Gamete genotypes IA and IO IB and IO
recessive to IB.
Genetic diagram
Two heterozygous parents plan to have a
child. One has blood group A and the
other has blood group B.
Ratio 1:1:1:1
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Worked example: monohybrid cross using a pedigree diagram
In this example, we first have to use the pedigree diagram to work out whether the disorder was caused by a
dominant or recessive allele. Since two parents without the disorder had a child with the disorder, it is caused
by a recessive allele.
We also need to use the diagram to work out the genotypes of 7 and 8 (parents). Since 7 has the disorder, he
must be homozygous recessive. 8 doesn’t have the disorder so must have at least one dominant allele. Since
7 and 8 have a child with the disorder, 8 must be heterozygous to have passed on the recessive allele.
Parental genotypes hh Hh
Genetic diagram
Explain the evidence from a pedigree diagram which would show that the
allele for [named phenotype] is dominant
● [Named phenotype] parents [n & n] have child [n] WITHOUT [named phenotype]
● So both parents [n & n] must be heterozygous / carriers of recessive allele
○ If it were recessive, all offspring would have [named phenotype]
Explain the evidence from a pedigree diagram which would show that the
allele for [named phenotype] is recessive
● Parents [n & n] WITHOUT [named phenotype] have child [n] WITH [named phenotype]
● So both parents [n & n] must be heterozygous / carriers of recessive allele
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Worked example: dihybrid cross (basic)
Note - if the two genes are on two different chromosomes (the genes are not linked), an allele from one pair of
chromosomes can enter a gamete with either allele from the other pair. This is due to independent segregation
of homologous chromosomes during meiosis. For example, If an adult had the genotype AaBb, the
possible gamete genotypes are: Ab, AB, ab and aB.
In fruit flies, the allele for grey body (G) is Parental phenotypes Grey body, Ebony body,
dominant to the allele for ebony body vestigial wings normal wings
(g) and the allele for normal wings (N)
is dominant to the allele for vestigial
Parental genotypes Ggnn ggNn
wings (n). These genes are not linked.
Ratio 1:1:1:1
Note - although in this example there are only two gamete genotypes for each parent, there could be up to 4 if a
parent is heterozygous for both genes. Just add extra columns / rows to the punnett square.
In a species of flowering plant, the T allele for Parental phenotypes Dwarf, Tall,
tallness is dominant to the t allele for pink-flowered white-flowered
dwarfness. In the same species, two
alleles CR (red) and CW (white) code for
Parental genotypes ttCRCW TtCWCW
the colour of flowers.
When homozygous red-flowered plants Gamete genotypes tCR and tCW TCW and tCW
were crossed with homozygous
white-flowered plants, all the offspring had Genetic diagram
pink flowers. A dwarf, pink-flowered plant
was crossed with a heterozygous tall,
white-flowered plant.
Ratio 1:1:1:1
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
What is a sex-linked gene?
Explain why males are more likely to express a recessive X-linked allele
This assumes males are XY and females are XX, as in humans. In some organisms, it is swapped. In these cases,
females (XY) would be more likely to express a recessive X-linked allele.
● Females (XX) have 2 alleles → only express recessive allele if homozygous recessive / can be carriers
● Males (XY) have 1 allele (inherited from mother) → recessive allele always expressed
A single gene that’s carried on the Parental phenotypes Female with hair Male with hair
X chromosome controls the
presence of hair on the skin of Parental genotypes XHXh XHY
cattle. Its dominant allele causes
hair to be present and its Gamete genotypes XH and Xh XH and Y
recessive allele causes
hairlessness. Genetic diagram
Use a genetic diagram to show all Offspring genotypes XGXB, XBXB, XGY, XBY
the possible genotypes and the
ratio of phenotypes expected in Offspring phenotypes Tortoiseshell female, black female,
ginger male, black male
the offspring of this cross.
Ratio 1:1:1:1
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Worked example: dihybrid cross with sex linkage
In fruit flies, a gene for body colour Parental phenotypes Grey-bodied, Black-bodied,
has a dominant allele for grey white-eyed female red-eyed male
body (G) and a recessive allele for
black body (g). A gene for eye Parental genotypes GgXrXr ggXRY
colour has a dominant allele for
red eyes (R) and a recessive Gamete genotypes GXr and gXr gXR and gY
allele for white eyes (r) and is
located on the X chromosome. Genetic diagram
A heterozygous grey-bodied,
white-eyed female fly was crossed
with a black-bodied, red-eyed
male fly. Complete a genetic
diagram to show all the possible
Offspring genotypes GgXRXr, ggXRXr, GgXrY and ggXrY
genotypes and the ratio of
phenotypes expected in the
Offspring phenotypes Grey-bodied red-eyed
offspring from this cross.
female, black-bodied red-
eyed female, grey-bodied
white-eyed male, Black-
bodied white-eyed male
Ratio 1:1:1:1
Explain the evidence from a pedigree diagram which would show that the
allele for [named phenotype] on the X-chromosome is recessive
● Mother [n] WITHOUT [named phenotype] has child [n] WITH [named phenotype]
● So mother [n] must be heterozygous / carrier of recessive allele
Explain the evidence from a pedigree diagram which would suggest that [named
recessive phenotype] is caused by a gene on the X chromosome
Only males tend to have [named recessive phenotype].
Explain the evidence from a pedigree diagram which would show that the
gene for [named phenotype] is not on the X chromosome
● [Named phenotype] father [n] has daughter [n] WITHOUT [named phenotype]
● Father [n] would pass on allele for [named phenotype] on X chromosome so
daughter [n] would have [named phenotype]
OR
● [Named phenotype] mother [n] has son [n] WITHOUT [named phenotype]
● Mother [n] would pass on allele for [named phenotype] on X chromosome so
son [n] would have [named phenotype]
Note - this assumes males are XY and females are XX, as in humans. There has been a question previously
about birds where males are XX and females are XY. In this case, swap father for mother and son for daughter.
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Explain how autosomal linkage affects inheritance of alleles
In fruit flies, the genes for body colour and for wing development are not on ● The two genes are linked
the sex chromosomes. The allele for grey body colour, G, is dominant to / autosomal linkage
the allele for black body colour, g. The allele for long wings, L, is ● No crossing over occurs /
dominant to the allele for short wings, l. genes are close together
● So only GL and gl
A cross was carried out between flies with grey bodies & long wings gametes produced / no
(heterozygous for both genes) and flies with black bodies & short wings. Gl and gL gametes
produced / no Ggll and
The result of this cross was 225 offspring with a grey body & long wings and ggLl offspring produced
220 with a black body & short wings. Explain these results.
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Worked example: autosomal linkage
In tomato plants, the genes for height Phenotype of offspring Number of offspring
and for the type of leaf are on the same
homologous pair of chromosomes. The Tall plants and normal leaves 1850
allele T, for a tall plant, is dominant to the
allele t, for a dwarf plant. The allele M, for Tall plants and mottled leaves 63
normal leaves, is dominant to the allele
Dwarf plants and normal leaves 52
m, for mottled leaves.
Dwarf plants and mottled leaves 579
Crosses were carried out between plants heterozygous for both genes. The position of the two
alleles for both genes was the same in each parent plant as shown in the diagram.
Explain the results in the table. Give the expected ratio of phenotypes if the genes for height and
type of leaf were on different homologous pairs of chromosomes.
What is epistasis?
Interaction of (products of) non-linked genes where one masks / suppresses the expression of the other.
Genetic diagram
Ratio 2:1:1
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Describe when a chi-squared (X ) test can be used2
● When determining if observed results are significantly different from expected results (frequencies)
○ Eg. comparing the goodness of fit of observed phenotypic ratios with expected ratios
● Data is categorical (can be divided into groups eg. phenotypes)
Suggest why in genetic crosses, the observed phenotypic ratios obtained in the
offspring are often not the same as the expected ratios
*Not matching offspring genotypes to their Some questions require you to link each offspring’s genotype
phenotypes.* to its corresponding phenotype, either by listing them in
order (see examples above), or annotating the Punnett
square.
*Using incorrect pairs of parents when giving These questions come up often but students find them
evidence from pedigree diagrams for alleles very challenging. Use the template answers given and
being dominant or recessive.* practice applying them to different examples of these
questions.
*Omitting the sex of offspring when listing Crosses involving sex-linkage are the only ones that require
phenotypes of a cross involving sex-linkage.* the sex of offspring to be specified when listing phenotypes.
*Giving rote-learned ratios eg. 9:3:3:1 Many factors influence the ratio of phenotypes of offspring.
for every dihybrid cross.* It’s best to calculate this yourself.
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
7.2Populations
What is a population?
A group of organisms of the same species in one area at one time that can interbreed
All the alleles of all the genes in a population at any one time
What does the Hardy-Weinberg principle state and what are the conditions
under which the principle applies?
● Allele frequencies will not change from generation to generation, given: This provides a
○ Population is large mathematical model.
○ No immigration / emigration (to introduce / remove alleles)
○ No mutations (to create new alleles)
○ No selection for / against particular alleles
○ Mating is random
The gene for the Rhesus blood group has two alleles. The allele Find q2 q2 = 16% = 0.16
for Rhesus positive, R, is dominant to that for Rhesus negative, r.
Find q q = √0.16 = 0.4
16% of the population of Europe is Rhesus negative. Use the
Hardy-Weinberg equation to calculate the percentage of this Find p p = 1 - 0.4 = 0.6
population that you would expect to be heterozygous for the
Rhesus gene. Find 2pq 2 x 0.4 x 0.6 = 0.48
Convert 48%
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Worked example: using the Hardy-Weinberg equation with codominance
Convert 42%
In fruit flies, a gene for body colour has a Find q2 p2 + 2pq = 64% = 0.64
dominant allele G (grey) for and a recessive
so q2 = 1 - 0.64 = 0.36
allele g (black).
Find q q = √0.36 = 0.6
A population contained 64% grey-bodied flies.
Use the Hardy–Weinberg equation to calculate Find p p = 1 - 0.6 = 0.4
the percentage of flies heterozygous for this
gene. Find 2pq 2 x 0.6 x 0.4 = 0.48
Convert 48%
“A gene pool is all the genes in a population.” It is all of the alleles of all the genes in a population.
“A gene pool is all the alleles in a species.” It is all of the alleles of all the genes in a population.
*Using ‘pq’ to calculate the frequency of the The heterozygous phenotype is ‘2pq’. This represents
heterozygous genotype.* both ways the two different alleles can be combined (eg.
Aa and aA), effectively doubling the probability.
*Not being able to apply the Hardy- If alleles are codominant, either can be assigned p and q.
Weinberg formula when alleles are The formula can be applied in the same way.
codominant.*
*Not converting percentages to decimals for Convert percentage allele frequencies to decimals by
Hardy-Weinberg calculations.* dividing by 100 before using them in the formula.
*Confusing allele frequency with Allele frequencies 'p' and 'q' represent the proportion of
homozygous genotype frequency.* each allele in the population, while 'p²' and 'q²' indicate
the proportion of individuals with homozygous genotypes
(dominant and recessive, respectively).
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
● Genetic factors
○ Mutations = primary source of genetic variation
○ Crossing over between homologous chromosomes during meiosis
○ Independent segregation of homologous chromosomes during meiosis
○ Random fertilisation of gametes during sexual reproduction
● Environmental factors (depends on context - eg. food availability, light intensity)
What is evolution?
1. Mutations Random gene mutations can result in [named] new alleles of a gene
2. Advantage Due to [named] selection pressure, the new allele might benefit its possessor
[explain why] → organism has a selective advantage
3. Reproductive success Possessors are more likely to survive and have increased reproductive success
5. Allele frequency Over many generations, [named] allele increases in frequency in the gene pool
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Explain the effects of directional selection
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Describe sympatric speciation
● Genetic drift = a mechanism of evolution in which allele frequencies in a population change over
generations due to chance
● As some alleles are passed onto offspring more / less often by chance
○ Regardless of selection pressures and whether alleles give a selective advantage
● So strongest effects in small populations as gene pool is small and chance has a greater influence
○ Eg. when a population is sharply reduced in size (bottleneck effect)
○ Eg. when a small, new colony forms from a main population (founder effect)
● This can reduce genetic diversity - some alleles can become fixed or lost entirely
“Speciation and natural selection Speciation and natural selection act on / require existing genetic
are causes of genetic variation.” variation, but don’t cause genetic variation.
“If I repeat the generic answer about Exam questions are almost always application based.
natural selection, I’ll get full marks.” Use information provided to link your answer to the question.
*Forgetting to mention mutations in Mutations result in new alleles of genes, enabling natural selection to
an answer about natural selection.* occur. This mark is commonly missed.
“Reproductive isolation occurs at the Geographical isolation leads to reproductive isolation. This
end of allopatric speciation.” then allows differences in gene pools to accumulate.
“Organisms adapt to their Whole populations adapt to their environment over many generations, not
environments.” the organisms themselves. Organisms that happen to be better
adapted are more likely to survive and reproduce.
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
What is an ecosystem?
What is a niche?
● The specific role of a species within its habitat, eg. what it eats, where and when it feeds
● Governed by its adaptation to both abiotic (non-living) and biotic (living) conditions
The maximum (stable) population size of a species that an ecosystem can support.
Abiotic factors Eg. light intensity, temperature, soil pH & mineral content, humidity
Explain how abiotic factors may affect population size / carrying capacity
● If conditions favourable, organisms more likely to survive & reproduce → increasing carrying capacity
● Eg. increasing light intensity increases rate of photosynthesis in plants
○ This increases carrying capacity of a variety of plant species
○ So increases the number and variety of habitats, niches and food sources for animals
○ So increasing carrying capacity of a variety of animal species
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Explain how interspecific competition may affect population size
● Reduces [named resource] available to both species, limiting their chances of survival & reproduction
○ So reduces population size of both species
● If one species is better adapted, it will outcompete the other
○ So population size of less well adapted species declines, potentially leading to extinction
1. As population size increases, resource availability per organism decreases, so competition increases
● So chances of survival & reproduction decrease → population size decreases
2. As population size decreases, resource availability per organism increases, so competition decreases
● So chances of survival & reproduction increase → population size increases
1. Divide area into a grid / squares eg. place 2 tape measures at right angles
2. Generate a pair of coordinates using a random number generator (eg. on a calculator)
3. Place a quadrat here and count number / frequency of [named species]
4. Repeat a large number of times (10 or more) and calculate a mean per quadrat
5. Population size = (total area of habitat / quadrat area) x mean per quadrat
Note - marking doesn’t have to be physical. It could be recording the base sequence, for example.
Recapturing an organism with an identical base sequence would show the organism has been caught
(‘marked’) before.
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Explain how the mark release recapture equation can be derived
This is for your understanding only. Assuming the proportion of marked individuals in the second sample reflects
the proportion of the entire first sample in the population, the following formula can be derived:
Number (marked) in sample 1 Number marked in sample 2 This just needs to be rearranged
= to get the formula for population
Total population size Total number in sample 2 size.
1. Sufficient time for marked individuals to mix / distribute evenly within the population
2. Marking not removed and doesn’t affect chances of survival / predation
3. Limited / no immigration / emigration
4. No / few births / deaths / breeding / change in population size (or birth & death rate are equal)
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Explain how conservation of habitats involves management of succession
Describe the conflict between human needs and conservation as well as the
importance of managing this
● Human demand for natural resources (eg. timber) is leading to habitat destruction / biodiversity loss
● Conservation is needed to protect habitats / niches / species / biodiversity
● Management of this conflict maintains the sustainability of natural resources
○ Meeting current needs without compromising the ability of future generations to meet theirs
Students should be able to evaluate evidence and data concerning issues relating to the conservation of
species and habitats and consider conflicting evidence.
“Climate is an abiotic factor.” Give a specific example eg. light intensity or temperature.
“Quadrats are randomly placed.” This is true, but you need to describe a method for this.
Random coordinates can be generated using a random number
generator. You also need to specify that a large number of
quadrats are used.
*Describing how to calculate the mean Many students suggest ‘scaling up’ from the mean number without
number of organisms per quadrat, instead giving any detail on how this would be achieved. Population size =
of the total population size.* (total area of habitat / quadrat area) x mean per quadrat
*Not mentioning allowing sufficient Sufficient time allows organisms to naturally redistribute within the area
time for organisms to disperse in the being sampled, ensuring a representative second sample for
mark-release-recapture method.* accurate population estimates.
*Giving the incorrect equation for The best way to learn the equation is by understanding how it is
mark-release-recapture.* derived. This is explained in the notes above.
*Mixing up speciation and succession.* Succession is the change in a community over time, whereas
speciation is how new species arise from existing species.
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AQA A Level Biology Topic 7 Genetics, populations, evolution and stan.store/biologywitholivia
ecosystems
Required practical 12
Investigation into the effect of a named environmental factor on the distribution of a given species.
Describe how you could investigate the effect of an environmental factor on the
distribution of a species in a habitat (random sampling in two areas)
1. Divide two areas into grids / squares eg. place 2 tape measures at right angles
2. Generate a pair of coordinates using a random number generator (eg. on a calculator)
3. Place a quadrat here and count number / frequency of [named species]
○ Standardise this eg. only count it if it is more than half in the quadrat
4. Repeat a large number of times (10 or more) and calculate a mean per quadrat for both areas
5. Measure environmental factor in each area eg. take soil moisture readings with a soil moisture meter
Common questions:
Suggest why percentage cover may be used rather ● Too difficult to count individual organisms /
than frequency. individual organisms are too small to count
Explain the importance of a large sample size. ● Minimises the effect of anomalies
● Ensures sample is representative of the population
Describe how you could decide the number of ● Calculate a running mean
quadrats that should be used in order to collect ● When enough quadrats, this shows little change
representative data. ● Enough to carry out a statistical test
Describe how you could investigate the effect of a factor on the distribution of a
species in a habitat (systematic sampling)
1. Place a transect line (tape measure) across an area with an environmental gradient eg. tree to full sun
2. Place quadrats at regular intervals eg. 1m (until end of transect) and record the number of organisms
of [named species] and [named environmental factor] eg. light intensity using a light meter
3. Repeat in other parallel areas and calculate mean number of plants at each point along the transect
Common questions:
Explain the limitations of using systematic ● Not appropriate unless there is an environmental gradient
sampling to estimate the population of a ● Transects run in one direction, but to cover the entire
species in a field. field, they would need placing in multiple directions
Which statistical test should be used to ● Correlation coefficient eg. Spearman’s rank
determine the relationship between
abundance and an environmental factor?
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