Genetics, Populations, Evolution and Ecosystems (A Level only)
7. Genetics, Populations, Evolution and Ecosystems (A Level only) — AQA A Level Biology 7402 Revision Notes & Topical Questions
15 min read 24 parts Lesson 1 of 25 Unit quiz
Lesson summary
Genetics, Populations, Evolution and Ecosystems — notes: Predict inheritance with monohybrid, dihybrid, linked and epistatic crosses and chi-squared tests, apply the Hardy-Weinberg principle, explain selection, speciation and drift, and investigate populations, succession and co…
- Genotype and phenotype
- Codominance
- Monohybrid cross
- Codominant example
- Sex linkage
- Probability example
Part 1 of 22Genetic key terms and dominance
Genetic key terms and dominance
Gene
- Gene a DNA sequence coding for a polypeptide at a specific locus;
- alleles are versions of the gene with slightly different base sequences at the same locus.
Genotype and phenotype
- Genotype and phenotype genotype is the alleles present;
- phenotype is the observable characteristic, from genotype and environment.
- Homozygous
- two identical alleles;
- heterozygous: two different alleles.
- two identical alleles;
Dominant
Dominant allele is always expressed (in homozygotes and heterozygotes); recessive allele is expressed only in homozygotes.
- Horse coatAA and Aa black, aa chestnut.
Codominance
- Codominance both alleles in a heterozygote are fully expressed.
- Blood groupsgene I with alleles IA, IB (codominant) and IO (recessive).
- IAIA or IAIO = A; IBIB or IBIO = B; IAIB = AB; IOIO = O.
F1 and F2
- F1 and F2 homozygous dominant × homozygous recessive gives all heterozygous F1;
- F1 × F1 gives F2 with 3 dominant : 1 recessive and 1 AA : 2 Aa : 1 aa.
Notation
- Notation capital for dominant and lower case for recessive using letters that look different (B/b, not C/c).
Part 2 of 22Monohybrid crosses and sex linkage
Monohybrid cross
- Monohybrid cross one gene; each allele has an equal chance of entering a gamete; predictions are probabilities,
- and real ratios vary because fertilisation is random.
- Bb × Bb: 3 black : 1 chestnut; 1 BB : 2 Bb : 1 bb.
- Always show parental phenotypes, genotypes, gametes, then the square, then offspring genotypes and phenotypes.
Codominant example
- IAIO × IBIO gives 1 AB : 1 A : 1 B : 1 O.
Sex linkage
- Sex linkage genes on the X chromosome (rarely Y); females XX, males XY.
- Males have one copy, so show recessive traits more often and cannot be carriers.
- Males do not pass X-linked traits to sons.
- Haemophilia (Factor VIII gene)XHXh × XHY gives 1 normal female : 1 carrier female : 1 normal male : 1 haemophiliac male.
Probability example
- Sarah's father had haemophilia, so she is XFXf;
- Mike is XFY;
- the chance of an affected baby is 1 in 4, or 25%.
- Read whether the question asks about all children or one sex.
Part 3 of 22Dihybrid crosses, linkage and epistasis
Dihybrid cross
- Dihybrid cross two genes at once; write both alleles of one gene first (BbEe, not BEbe).
- BbEe × bbEe (black brown-eyed × chestnut brown-eyed): 3 black brown : 3 chestnut brown : 1 black blue : 1 chestnut blue.
- Heterozygous × heterozygous gives 9 : 3 : 3 : 1 (56.25%, 18.75%, 18.75%, 6.25%).
Autosomal linkage
- Autosomal linkage genes on the same chromosome do not assort independently and stay together, written in brackets, for example (TG)(tg).
- (TG)(tg) × (tg)(tg) gives 1 normal tail, green : 1 short tail, white.
- Ratios that depart from 9:3:3:1 suggest linkage; crossing over produces some recombinants.
Epistasis
- Epistasis one gene affects the expression of another on a different chromosome.
- Pigeons
- R gives grey feathers (r gives white), but dominant F blocks grey;
- only Rff is grey and all other genotypes are white.
- R gives grey feathers (r gives white), but dominant F blocks grey;
Part 4 of 22Test crosses and planning genetic diagrams
Test cross
- Test cross cross an individual with the dominant phenotype with a homozygous recessive to find its genotype.
- Monohybrid
- no recessive offspring means homozygous dominant;
- any recessive offspring means heterozygous.
- no recessive offspring means homozygous dominant;
- Dihybrid
- no recessive for either gene means homozygous dominant for both;
- recessive for one gene only means heterozygous for one;
- recessives for both means heterozygous for both.
- no recessive for either gene means homozygous dominant for both;
- Rabbit Floppy (long ears D)a short-eared (dd) offspring shows Floppy is Dd.
Before drawing
- Before drawing how many genes, how many alleles, which is dominant, the type of dominance, and any linkage or epistasis.
- (complete, codominance, incomplete)
Part 5 of 22Investigating genetic ratios
Model organisms
- Fast Plants (Brassica rapa) and Drosophila have short life cycles and single-gene traits.
Fast Plant stem colour
- A dominant to a (green).
- (anthocyanin, purple)
- AA × aa: all Aa, purple.
- Aa × Aa: 1 AA : 2 Aa : 1 aa, so 3 purple : 1 green.
Drosophila wing length
- L (wild type) dominant to l (vestigial).
- Ll × Ll3 wild type : 1 vestigial (75% : 25%).
Reminder
- Reminder an individual showing the recessive phenotype is always homozygous recessive.
Part 6 of 22The chi-squared test
1
Find the observed (O) and expected (E) values for categories of data.
2
Calculate O – E.
3
Square each difference.
4
Divide each by E.
5
Add the results: χ2 = Σ (O – E)2 ÷ E.
6
Degrees of freedom = number of classes – 1.
7
Compare with the critical value at p = 0.05.
Decision
- χ2 greater than or equal to the critical value: significant difference, reject the null hypothesis.
- χ2 smaller: no significant difference, differences due to chance.
Worked example
- 128 rabbits, expected 9:3:3:1 (72, 24, 24, 8).
- χ2 = 0.014 + 0.375 + 0.167 + 0 = 0.56.
- Degrees of freedom = 3; critical value at 0.05 is 7.82.
- 0.56 is smaller, so no significant difference; probability above 10% that it is chance.
Significant difference
- Significant difference suggest an unaccounted factor such as linkage.
Part 7 of 22Species, populations and gene pools
Species, populations and gene pools
Species
- Species a group of similar organisms that can reproduce to give fertile offspring and share the same chromosome number.
- Horse (64) × donkey (62) gives a mule with 63 chromosomes that cannot pair in meiosis, so it is infertile.
Population
- Population organisms of one species in a particular space at a particular time that can potentially interbreed.
Gene pool
- Gene pool all the alleles of the genes in a population at a time;
- allele frequency is how often an allele occurs.
- Allele frequencies change with natural selection, and large changes lead to evolution or new species.
Phenotype frequency
Phenotype frequency individuals with the phenotype ÷ total individuals × 100.
- Of 9 pea plants, 7 purple (78%) and 2 white (22%).
Part 8 of 22Hardy-Weinberg principle
Principle
- Principle allele frequencies stay constant between generations if the population is diploid, reproduces sexually only, has non-overlapping generations, mates randomly, is large,
- and has no migration, mutation or selection.
- (rarely all true in nature)
Equations
Equations for alleles B (frequency p) and b (frequency q)
- p + q = 1.What the symbols mean: p = frequency of the dominant allele · q = frequency of the recessive allele · p2 = homozygous dominant · 2pq = heterozygous · q2 = homozygous recessive
- p2 + 2pq + q2 = 1 (BB, Bb, bb).
- Frequencies are between 0 and 1.
Worked example
- 10% of birds are white (ff), so q2 = 0.10.
- q = 0.32 and p = 1 – 0.32 = 0.68.
- FF = p2 = 0.46; Ff = 2pq = 0.44; ff = 0.10; total = 1.
Tip
- Tip start with q2, the recessive phenotype frequency; the equations estimate frequencies while the principle assumes no change.
- (the only genotype known directly)
Part 9 of 22Sources of genetic variation
Sources of genetic variation
Phenotypic variation
Phenotypic variation genetic variation + environmental influence.
- Genetic
- ABO blood groups;
- environmental: plant height;
- both: sickle cell allele maintained where heterozygotes resist malaria.
- ABO blood groups;
Sources of genetic variation
- Mutationnew alleles, and it must occur in gametes to be inherited.
- Crossing over of non-sister chromatids in prophase I: new allele combinations on chromosomes.
- Independent assortment (segregation) in metaphase I: different chromosome combinations in gametes.
- Random fertilisationany male gamete with any female gamete.
Inheritance
- Inheritance genetic variation affects gamete DNA so it is inherited; environmental variation is not.
Part 10 of 22Natural selection and evolution
1
Selection pressures
- Selection pressures biotic and abiotic (light, temperature, water, pH) factors.
- (predation, competition, disease)
- Lions: competition for food and mates, drought and heat.
2
Process
- Process individuals with phenotypes giving a selective advantage are more likely to survive and reproduce,
- so favourable alleles rise in frequency and unfavourable ones fall.
- Say "more likely to survive", not "guaranteed".
3
Evolution
- Evolution formation of new species from pre-existing ones through changes in gene pools and allele frequencies.
- Evolution is gradual change in a population; speciation is formation of a new species, usually after reproductive isolation,
- and is faster in organisms with short generation times.
Part 11 of 22Types of selection
| Type | Effect | Example |
|---|---|---|
| Stabilising | Selects the average and removes extremes | Human birth weight |
| Directional | Shifts the population towards one extreme | Antibiotic resistance in bacteria |
| Disruptive | Selects both extremes and removes intermediates, maintaining two phenotypes (polymorphism) | Galapagos finch beak size: small or large beaks suit different seeds, medium beaks are selected against |
Part 12 of 22Speciation and genetic drift
Reproductive isolation
Reproductive isolation stops gene flow.
- Seasonalbreeding at different times.
- Mechanicalstructures prevent mating.
- Behaviouraldifferent courtship.
Genetic isolation
- Genetic isolation each population accumulates its own allele changes until they cannot interbreed to produce fertile offspring.
Allopatric speciation
- Allopatric speciation a geographical barrier splits the population; different selection pressures change each group.
- (mountain, river, road)
Sympatric speciation
- Sympatric speciation no barrier; ecological separation or behavioural separation (feeding, courtship).
- (soil pH changing flowering time)
- Lake fishbottom feeders with long jaws and open-water feeders with short jaws, with different courtship, become separate species.
- Separate the cause of initial separation from the factor stopping breeding later.
Genetic drift
- Genetic drift chance, not selection, decides which alleles are passed on;
- it matters most in small populations because chance events change allele frequencies quickly.
- Examplepink-flower seeds landing on a rubber surface and failing to germinate.
Part 13 of 22Practical: bead model of allele frequency and drift
1
Put 24 red (R) and 24 white (r) beads in a container and mix.
2
Draw two beads at random to represent a mating and record the genotype.
3
Replace the beads and repeat 24 times.
4
Compare with the expected 1 RR : 2 Rr : 1 rr (25%, 50%, 25%).
Result
- Result sample results differ because of chance.
- (5 RR, 7 Rr, 12 rr)
- Alleles in the new population: red = 5 × 2 + 7 = 17; white = 12 × 2 + 7 = 31.
- Allele frequencies: red 35.4%, white 64.6% (from 50:50), a change of 14.6%.
Second round
- 17 red and 31 white beads gave 4 RR, 5 Rr, 15 rr: red 13 (27.1%) and white 35 (72.9%), so the drift grows.
- (22.9% from the start)
Computer models
- Computer models simulate selection pressures, mutation, dominance and environmental change, speeding up evolutionary time,
- and can show drift against selection.
Part 14 of 22Ecosystem terms and the niche
Ecosystem terms and the niche
Biotic factors
Biotic factors are living (predation, competition, disease, food); abiotic factors are non-living (temperature, light, pH, water, minerals).
Ecosystem
- Ecosystem a community and its interactions with non-living factors, with energy flow and nutrient recycling;
- habitat — the local environment where a species lives.
Niche
- Niche the role of an organism: resource use, responses to abiotic factors and interactions with biotic factors.
- Each species has a unique niche; overlapping niches cause competition so one species wins or both decline.
- Three warbler species feed at different heights in conifers (niche differentiation).
Part 15 of 22Carrying capacity and population limits
1Carrying capacity
- Carrying capacity the maximum stable population size an ecosystem can support; a growth curve plateaus there.
2Abiotic limits
- Abiotic limits light, water, temperature, space, soil pH.
- Away from the optimum temperature, mammals spend more energy on homeostasis, leaving less for growth and reproduction.
3Interspecific competition
- Interspecific competition grey squirrels outcompete red squirrels as they eat a wider range of food, are larger and store more winter fat.
4Intraspecific competition
- Intraspecific competition rising numbers make resources limiting, so the population stabilises.
5Predator-prey cycle
- Predator-prey cycle prey rise, predators rise, prey fall, predators fall, then repeats (lynx and hare).
Part 16 of 22Sampling and estimating population size
Sampling
- Sampling random sampling avoids bias;
- systematic sampling can be biased by choice but suits environmental gradients.
Quadrat measures
- Quadrat measures frequency = quadrats containing the species ÷ total quadrats × 100 ; percentage cover uses 100 sub-squares (89 squares gives 89%).
- (18 of 50 gives 36%)
Belt transect
- Belt transect quadrats at regular intervals along a tape across a changing gradient, giving quantitative data.
Mark-release-recapture
Mark-release-recapture for motile animals: N = (n1 × n2) ÷ m2.
- n1 marked and released, n2 in the second sample, m2 marked ones recaptured.
- Leafhoppers236 × 244 ÷ 71 = 811.
Assumptions
- Assumptions marked animals mix fully, marking does not affect survival, marks stay visible and the population size is constant.
- (no births, deaths or migration)
Part 17 of 22Succession and its management
Succession and its management
Succession
- Succession gradual change in an ecosystem from simple to complex, with changing biotic and abiotic conditions.
Primary succession
Primary succession on bare rock
- Pioneer species (moss, lichens) colonise; their decay forms basic soil (humus).
- Small plants and grasses grow, deepening the soil and holding it.
- Shrubs and small trees follow as soil and water improve.
- Large trees form a climax communitystable and diverse.
Management for conservation
- Management for conservation intermediate stages support species not found in climax communities.
- (grassland, heathland, moorland)
- Mowing and grazing stop shrubs and trees establishing.
- Managed burning removes woody plants and lets heather regrow.
- Scottish moorland would naturally become spruce forest; management keeps both.
Part 18 of 22Growth of microorganisms and logarithmic scales
Turbidity
- Turbidity as microorganisms multiply in broth, the culture becomes cloudier;
- a colorimeter, light sensor or turbidity meter measures light transmission at fixed times to plot a growth curve.
Log scales
- Log scales increase by powers of 10 (102 = 100, 103 = 1000), so the intervals on the axis are uneven but a huge range fits on one graph.
- Reading valueslog 100 = 2, log 1000 = 3, so 320 lies near 2.5.
- The pH scale is logarithmic.
Exam
- Exam you interpret log graphs or explain their benefit, rather than draw them.
Part 19 of 22Conservation and human need
| Method | How it manages conflict |
|---|---|
| National and marine parks | Legal restrictions on access, development and hunting balance biodiversity and land use |
| Public engagement and ecotourism | Income and jobs build community support |
| Zoos (captive breeding) | Restore populations and support research, relieving pressure on wild populations |
| Botanic gardens | Conserve rare plants and enable reintroduction |
| Frozen zoos and seed banks | Store genetic material and seeds for future restoration |
- Conflict
- land, water, wood and fuel needs damage ecosystems;
- conservation means sustainable management and often managing succession.
- land, water, wood and fuel needs damage ecosystems;
Part 20 of 22Evaluating conservation data: crayfish
Study 1
- Study 1 signal crayfish were removed after 2 years; native crayfish rose from 25 to 45 over 4 years,
- while a control stream with no removal fell from 60 to 20.
- Conclusioncompetition with the invader may cause the native decline.
- The control, random sampling and long duration make it valid and unbiased.
Study 2
- Study 2 a 20 m stream for 18 months; native crayfish fell from 25 to 13 and then 9 even after removal.
- Conclusion conflicts with Study 1.
- Weaknesses
- no control site, so water quality, a new predator or temperature may be responsible;
- shorter duration.
- no control site, so water quality, a new predator or temperature may be responsible;
Conflicting evidence
- Conflicting evidence a single study is rarely enough for national conservation action;
- many similar studies are needed.
Part 21 of 22Practical: species distribution and abiotic factors
- Choose the method
- random sampling with frame quadrats where no obvious gradient exists; systematic belt transects where a factor changes.
- (altitude, shade to open field)
- random sampling with frame quadrats where no obvious gradient exists; systematic belt transects where a factor changes.
1
Lay two tape measures as axes for a 5 m by 5 m grid (random) or a 10 m transect (systematic).
2
Generate 10 random coordinates, or choose regular intervals such as every 1 m.
3
At each point place the quadrat and record percentage cover of the species.
4
Measure the abiotic factor (digital thermometer for soil temperature, pH meter, photometer for light).
5
Plot percentage cover (dependent) against the abiotic factor (independent).
6
Test correlation with Spearman's rank correlation.
- Limitations
- correlation is not causation; other abiotic or biotic factors may explain the distribution, so further investigation is needed.
- (soil pH, pollinators)
- correlation is not causation; other abiotic or biotic factors may explain the distribution, so further investigation is needed.
Part 22 of 22Worked examples
A heterozygous brown-eyed horse (Ee) is test crossed. Describe the expected offspring and what a result of all brown-eyed offspring would show about an unknown brown parent. [4]4 marks
Worked examplesEe × ee gives 50% Ee (brown) and 50% ee (blue).If an unknown brown parent is crossed with ee and all offspring are brown, it is probably homozygous dominant (EE).Any blue offspring would show the parent is heterozygous.In a population, 16% show a recessive phenotype. Calculate the frequency of heterozygotes. [3]3 marks
- q2 = 0.16, so q = 0.4.
- p = 0.6.
- 2pq = 2 × 0.6 × 0.4 = 0.48.
Observed offspring 90:20:25:5 (expected 9:3:3:1 from 140). Explain how to test whether the difference is significant. [4]4 marks
1Expected values: 78.75, 26.25, 26.25, 8.75.2Calculate (O – E)2 ÷ E for each and sum to get χ2.3Degrees of freedom = 3; compare with 7.82 at p = 0.05.4If χ2 is greater, the difference is significant.50 beetles were marked; a second sample of 60 contained 12 marked. Estimate the population. [2]2 marks
- N = n1 × n2 ÷ m2 = 50 × 60 ÷ 12.
- N = 250.
Explain why genetic drift has a greater effect in small populations. [3]3 marks
Worked examplesChance events change which alleles are passed on.In a small population a few individuals carry a large proportion of the alleles.Alleles can be lost quickly, so frequencies change more.
Key terms
| Term | Meaning |
|---|---|
| Codominance | Both alleles in a heterozygote are fully expressed. |
| Epistasis | One gene affecting the expression of another gene. |
| Gene pool | All alleles of all genes in an interbreeding population. |
| Hardy-Weinberg principle | Allele frequencies stay constant if specific conditions are met. |
| Disruptive selection | Selection for both extreme phenotypes and against intermediates. |
| Allopatric speciation | Speciation after a geographical barrier separates populations. |
| Genetic drift | Random change in allele frequencies, especially in small populations. |
| Carrying capacity | The maximum stable population size an environment can support. |
| Climax community | The stable final community in succession. |
Avoid these mistakes
1
Writing "dominant means more common" — dominant alleles are expressed in heterozygotes but may be rare.
2
Using p and q confusingly — start from q2, the homozygous recessive frequency.
3
Mixing up evolution and speciation — speciation is the formation of a new species.
4
Saying genetic drift is selection — it is random change, strongest in small populations.
5
Saying mark-recapture works for plants — it is used for motile animals; quadrats for sessile ones.
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