4C 4

Gene Pool and Genetic Diversity

Use gene pools, genetic diversity and the Hardy–Weinberg equation to detect allele-frequency change from mutation and selection.

YOUR SPECIFICATION

What you need to know

  • 4.20(i) equation to see whether is changing over time.
  • 4.20(ii)Allele-frequency change from and .
Pearson specification · Issue 2, p. 24

Hardy–Weinberg is a null model. Genetic drift, migration and non-random mating also change frequencies; mention them as reasons the model can fail, but the required drivers in 4.20(ii) are mutation and natural selection. Speciation from isolation is the next lesson. Heterozygosity H (4.17) is a sample statistic; 2pq is a Hardy–Weinberg prediction.

By the end, you should be able to…

  • Define a and .
  • Calculate p, q and expected frequencies.
  • Explain how mutation and selection change allele frequency.
SPECIFICATION-ALIGNED LEARNING

Build your understanding

The gene pool is the stock of alleles

A is all the in a reproducing or . is the variety of those alleles. A large, outbreeding population usually holds more diversity than a tiny captive group. Diversity matters because some alleles may prove useful if the environment changes; it is not automatically “better ”.

The index from 4C 2 estimates diversity at a scored marker. , below, is a different tool: it predicts frequencies from if several assumptions hold.

The Hardy–Weinberg null model

A Punnett square with gametes A (p) and a (q) on each side. Cells: AA p², Aa pq, Aa pq, aa q². Beside it: p + q = 1, p² + 2pq + q² = 1, AA = p², Aa = 2pq, aa = q².A (p)a (q)A (p)a (q)AAp²AapqAapqaaq²p + q = 1p² + 2pq + q² = 1AA = p²Aa = 2pqaa = q²
Gametes carry A with frequency p and a with frequency q. Random fusion gives AA (p²), Aa (pq twice, so 2pq) and aa (q²).

For two alleles, p + q = 1. If mating is random and other assumptions hold, genotype frequencies are p² ( p), 2pq () and q² (homozygous q), and p² + 2pq + q² = 1. You can estimate q from the frequency of a as √(q²), then find p = 1 − q, then expected heterozygotes as 2pq.

The Hardy–Weinberg null model (continued)

Fictional example: 16 of 100 organisms show a recessive phenotype, so q² = 0.16, q = 0.40, p = 0.60. Expected heterozygote frequency is 2 × 0.60 × 0.40 = 0.48, so 48 individuals. If you later measure p = 0.45 in the same population, allele frequency has changed and Hardy–Weinberg is not describing a static pool.

Mutation and selection move p and q

Mutation introduces new alleles, or extra copies of an allele, so it can change p and q. Most are not advantageous; the specification still requires mutation as a source of change. then changes frequency when genotypes differ in survival or reproduction. Alleles that improve success become more common in the next generation.

Assumptions behind Hardy–Weinberg include no selection, no mutation, no migration, random mating and a large population (so drift is negligible). Real populations often break them. The equation is still useful: it is the pattern you would see if nothing were changing, so a mismatch is evidence that something is.

The gene pool is all the alleles in a population. Mutation can introduce an allele. Selection changes allele frequency if the allele affects survival or reproduction. Hardy–Weinberg describes frequencies when there is no selection, no mutation, random mating and a large population. Selection changes how common an allele isThe gene pool is all the alleles in a population. Mutation is the source of new alleles.Earlier generationAAaAAAAaAaAAa: 3 of 12 = 0.25selectionallele a helps survivalor reproduction hereLater generationaAaaAaAaAaaAa: 7 of 12 ≈ 0.58Hardy–Weinberg is the null model: allele frequencies stay constant if there isno selection, no mutation, no migration, random mating and a large population.Selection does not create the allele. The gene pool is the whole population, not one organism.

NOT: selection does not create the allele. Mutation does not, by itself, make it common.

  1. Frequency is a proportion of the pool, not a count of species
  2. Hardy–Weinberg assumes no selection and no mutation
  3. Drift and migration can also change frequencies
  4. The required drivers to name are mutation and selection

Two traps this diagram blocks

  • Do not say selection produces the mutation it then favours.
  • Do not treat a Hardy–Weinberg calculation as proof that selection is happening. Agreement with the model suggests those forces are not currently detectable.

From the diagram alone

Question

Explain the different roles of mutation and natural selection in changing a gene pool. [3]

Show a model answer

Mutation can add a new allele to the gene pool. Natural selection then changes how common alleles are, because individuals with an advantageous allele are more likely to survive and reproduce. Selection does not create the new base sequence.

Two ways genetic diversity appears in this topic
QuantityWhat it isTypical use
Heterozygosity index HCounted heterozygotes / N at a markerMeasure diversity in a sample (4.17)
2pqHardy–Weinberg expected heterozygote frequencyPredict genotypes from p and q (4.20)
Change in p or q over timeAllele frequency not constantEvidence that mutation, selection or another process is acting
EXAM TIPS & ADVICE

Make your reasoning visible

Start from the recessive phenotype if that is what you can see

q² is the frequency only if the is recessive. State that assumption.

Compare two times

4.20(i) is about change over time. One snapshot can fit and still not prove the never changes.

Key explanations

  • The is the complete set of alleles in a population.
  • can introduce a new allele. Until then selection cannot increase that allele.
  • increases the frequency of an allele that makes survival or reproduction more likely in that environment.

Avoid this misconception

The claim: If a population matches Hardy–Weinberg this year, evolution has stopped for ever.

The correction: It is a null model for those conditions. Selection, mutation, migration or drift can still change frequencies later.

BEFORE YOU START · GENE POOLS AND HARDY–WEINBERG

Is this population changing? Use Hardy–Weinberg to find out

A gene pool is all the alleles in a population. The Hardy–Weinberg equation predicts what the gene pool looks like if nothing is changing it. In the model below you can switch on the things that do change it and watch what happens.

What the model shows

A made-up population with one gene that has two alleles: A, which is dominant, and a, which is recessive. Each circle is one individual carrying two alleles. The graph tracks how common each allele is (p for A, q for a), generation after generation.

What to look for

Whether the lines on the graph stay flat or move. Then change one thing at a time (selection, mutation, migration or a small population) and see which ones make p and q change.

What it tells us

In a large population with no selection, mutation or migration, allele frequencies stay the same: that is the Hardy–Weinberg prediction (p² + 2pq + q² = 1). When the frequencies change over time, something such as selection or mutation is acting.

Be careful what you claim

One snapshot that fits Hardy–Weinberg does not prove a population never changes; you need to compare two times. Real populations have many genes and overlapping generations. The mutation and migration rates here are far bigger than real ones, so changes show up within minutes.

Try it in the model: start with the lesson’s numbers (16 in 100 show the recessive trait), work out q and the expected number of carriers, then press Step 10 with nothing acting.

SPECIFICATION 4.20 · MODEL

Gene pools and Hardy–Weinberg

A fictional population starts with the lesson’s numbers (16 of 100 recessive, q = 0.40). Run generations with nothing acting, then add selection, mutation, migration or a small population, and watch whether p and q stay put.

What you see
  • A population of individuals, each drawn with two alleles: dark blue A and amber a. aa individuals show the recessive phenotype.
  • A graph of allele frequencies p (A) and q (a) over generations.
  • Genotype bars this generation, with outlines for the Hardy–Weinberg expectation p², 2pq, q² from the same q.
How to use it
  • Step or run generations. Choose the population size: small populations drift.
  • Change the fitness of aa (selection), the mutation rate A → a and migration from a neighbouring population.
  • Split into two isolated populations with their own selection to watch gene pools diverge.
What it shows
  • Hardy–Weinberg as a null model: with no forces and a large population, p and q do not change.
  • How selection and mutation (4.20 ii) change allele frequencies, and how drift and migration break the assumptions.
  • Why comparing two times, not one snapshot, is the test of change.
Limits of the model
  • Fictional population. One gene with two alleles, discrete generations, random mating and selection on survival only.
  • Mutation and migration rates are exaggerated so changes appear within tens of generations.
  • A “very large” population is calculated exactly (no drift) and drawn as 100 individuals.

Guided tour · step 1 of 8

What to do
  1. The population starts as the lesson’s example: 16 of 100 show the recessive phenotype.
  2. In Lesson dataset below the simulator, enter q and Expected heterozygotes in 100.
  3. Press Check.
Why

q² = 0.16, so q = √0.16 = 0.40 and p = 0.60. Expected heterozygotes 2pq = 2 × 0.60 × 0.40 = 0.48, so 48 of 100.

Run generations

Population size
Generation0
p (A)0.60
q (a)0.40

Forces

1.00

1 = no selection. Below 1 selects against aa; above 1 favours it.

0.000

Exaggerated so the effect shows.

0 %

Is Hardy–Weinberg holding?

Expected from q now: AA 36 %, Aa 48 %, aa 16 %. Very large population: frequencies are exact, so any gap between bars and outlines is real (for example selection removing aa).

Lesson dataset

Fictional example: 16 of 100 diploid organisms show the recessive phenotype.

Stretch: a later sample of 100 has 36 recessive phenotypes. What is q now?

Explain

In a population of 20 with no selection, mutation or migration, q drifted from 0.40 to 0.15 in 30 generations. Which assumption failed?

Assumptions

Hardy–Weinberg proportions and constant p and q need: no selection, no mutation, no migration, random mating and a large population. The required drivers of change in 4.20(ii) are mutation and natural selection; drift, migration and isolation show other ways the model fails.

RETRIEVE · APPLY · CHECK

Check your understanding

Try each question before opening the suggested answer.

  1. Practice question

    Retrieval and explanation · suggested answer

    What is a gene pool?

    Show suggested answer

    All the alleles present in a reproducing population or species.

  2. Practice question

    Retrieval and explanation · suggested answer

    Write the Hardy–Weinberg expressions for two alleles.

    Show suggested answer

    p + q = 1 and p² + 2pq + q² = 1, where 2pq is the expected heterozygote frequency.

  3. Practice question

    Retrieval and explanation · suggested answer

    How can natural selection change allele frequency?

    Show suggested answer

    If genotypes differ in survival or reproduction, some alleles are passed on more often, so p and q in the next generation differ from the last.

STRETCH QUESTION

Take the idea further

Apply the same specification knowledge to an unfamiliar problem. Any extra assumptions are supplied in the question.

Stretch question

In the fictional sample above, q² = 0.16 so q = 0.40. A later sample of 100 has 36 recessive phenotypes. Has allele frequency changed, and what must you still be careful about?

Show a hint

Recalculate q, then think about sampling error.

Explore the reasoning

New q² = 0.36, q = 0.60, so the point estimate of q has risen. You should still treat sampling variation, scoring errors and whether the phenotype is truly recessive as uncertainties; a larger sample or a direct genotype count would strengthen the claim that selection or mutation has acted.

RECALL

Recall this lesson

Lesson recall questions

5 of 15 recall questions for 4.200 of 5 rated0 secure

Question 1 of 5: How can you tell allele frequency is changing in a population?

014.20Causal chain

Hardy–Weinberg, selection and isolation

Practice question

Retrieval and explanation · suggested answer

How can you tell allele frequency is changing in a population?

Build the sequence from memory first. Then reveal the model order.

Tap the steps in the order you recall. Tap a placed step to send it back.

  1. 01Next step
  2. 02Waiting
  3. 03Waiting

Tap to place

Practise more of these specification points

Beyond the classroom

Put your biology to work

Explore where these ideas appear in the world. Enrichment, not extra required recall.

EnvironmentResearch

Why a “no change” equation is still biology

4C · Gene Pool and Genetic DiversityNature Education’s Scitable account treats Hardy–Weinberg as the genotype frequencies expected in a diploid population that is not evolving. If observed frequencies differ, at least one assumption has…Specification 4.20(i)Read & use the scienceClose article

Why this matters

Nature Education’s Scitable account treats Hardy–Weinberg as the genotype frequencies expected in a diploid population that is not evolving. If observed frequencies differ, at least one assumption has failed. That is exactly how 4.20(i) uses the equation: as a test for change, not as a promise that wild populations are ideal. Hardy–Weinberg predicts genotype frequencies from allele frequencies under specified assumptions, including random mating and no selection, migration or mutation. If measured data do not fit, a biologist investigates which assumption or sampling issue matters. One count cannot establish the cause of change. Researchers often repeat sampling across generations and compare loci. In an exam calculation, define p and q, apply p² + 2pq + q² = 1, and then interpret what the comparison actually permits you to conclude.

Back to the specification

Pearson Edexcel IAL Biology · Issue 2, February 2021 · Unit 2, pp. 21–24. The application extends beyond required recall.

  • 4.20(i) understand how the Hardy-Weinberg equation can be used to see whether a change in allele frequency is occurring in a population over time
Read the Pearson specification

Use the science

Why does one generation of classroom data not “prove Hardy–Weinberg forever”?

Explore a possible response

It tests those students, that locus, that time. Selection or mutation can still act in later generations or at other loci.

Explore the source

EnvironmentResearch

Genetic rescue has limits

4C · Gene Pool and Genetic DiversityThe US Fish and Wildlife Service describes a programme that introduced Texas panthers into the small Florida panther population to increase genetic diversity. This is an intervention in…Specification 4.20(i) · 4.20(ii)Read & use the scienceClose article

Why this matters

The US Fish and Wildlife Service describes a programme that introduced Texas panthers into the small Florida panther population to increase genetic diversity. This is an intervention in a gene pool, not a proof that every allele automatically becomes common. Researchers monitor breeding, survival and genetic measures over generations. Hardy–Weinberg provides a baseline for thinking about allele frequencies, while actual populations can violate its assumptions through migration, selection and small size. The programme connects a syllabus equation to conservation decisions. Habitat loss and other threats still need separate attention; adding genes alone cannot solve every ecological problem.

Back to the specification

Pearson Edexcel IAL Biology · Issue 2, February 2021 · Unit 2, pp. 21–24. The application extends beyond required recall.

  • 4.20(i) understand how the Hardy-Weinberg equation can be used to see whether a change in allele frequency is occurring in a population over time
  • 4.20(ii) understand that changes in allele frequency can come about as a result of mutation and natural selection
Read the Pearson specification

Use the science

Why would introduction of new individuals make a Hardy–Weinberg no-migration assumption inappropriate?

Explore a possible response

Incoming panthers bring alleles from another population. Migration can change allele frequencies, so the no-migration model no longer describes the intervention.

Explore the source

Browse all Unit 2 connections →
END OF THE LESSON

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