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7.4 Population Genetics

🧬AP Biology
Unit 7 Review

7.4 Population Genetics

Written by the Fiveable Content Team • Last updated September 2025
Verified for the 2026 exam
Verified for the 2026 examWritten by the Fiveable Content Team • Last updated September 2025
🧬AP Biology
Unit & Topic Study Guides
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Skills you'll gain in this topic:

  • Explain how gene pools and allele frequencies change over time in a population
  • Describe the impact of factors like mutation, migration, and genetic drift on alleles
  • Analyze how random processes drive evolutionary change
  • Predict how genetic variation changes in bottleneck and founder events
  • Relate shifts in allele frequencies to how species evolve and adapt
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How Random Processes Shape Evolution

Evolution isn't just driven by natural selection. Random events also play a crucial role in shaping the genetic makeup of populations. These processes can introduce new genetic variations, change the frequency of existing alleles, or even eliminate certain alleles from a population entirely. Understanding these random processes helps explain how populations can change over time even without selective pressures.

While natural selection tends to drive populations toward adaptation to their environments, random processes can push evolution in unpredictable directions. These chance events can sometimes lead to maladaptive traits becoming common in a population or to the loss of potentially beneficial genetic variations.

Mutations: The Source of Genetic Variation

Mutations are random changes in DNA sequence that create new genetic variations within a population. These genetic changes provide the raw material upon which natural selection can act. Without mutations, populations would have limited genetic diversity and fewer options for adapting to changing environments.

Types of Mutations and Their Effects:

  • Point mutations: Changes in a single DNA base pair
    • May have no effect (silent mutations)
    • May alter protein function (missense mutations)
    • May stop protein production (nonsense mutations)
  • Chromosomal mutations: Changes in chromosome structure
    • Deletions (loss of DNA segments)
    • Duplications (repeated DNA segments)
    • Inversions (flipped DNA segments)
    • Translocations (DNA moved to a different location)

Most mutations are neutral, having little to no effect on an organism's fitness. Some are harmful, reducing survival or reproduction. Occasionally, mutations are beneficial, increasing an organism's fitness in its environment, like the dark-colored moths that had better camouflage during the Industrial Revolution.

Source: BioNinja

The rate of mutations is generally low but constant, providing a steady source of new genetic variations. Environmental factors like radiation, certain chemicals, and viral infections can increase mutation rates. Though random, mutations are the ultimate source of all genetic diversity, making them essential to the evolutionary process.

Genetic Drift: Random Changes in Allele Frequency

Genetic drift is the random change in allele frequencies due to chance events rather than selection. It occurs in all populations but has stronger effects in smaller ones. Genetic drift can lead to the loss of genetic variation within a population, as some alleles may be randomly lost while others become more common.

Key Characteristics of Genetic Drift:

  • Acts randomly (not based on fitness advantage)
  • More powerful in small populations
  • Can lead to loss of genetic diversity
  • Can cause harmful alleles to increase in frequency
  • Can override natural selection in small populations

Genetic drift works because reproduction involves random sampling of alleles from parents. Just like flipping a coin 10 times might not give exactly 5 heads and 5 tails, the alleles passed to the next generation might not perfectly represent the frequencies in the parent generation. Over multiple generations, these random fluctuations can significantly change a population's genetic makeup.

The Bottleneck Effect

The bottleneck effect is a dramatic form of genetic drift that occurs when a population is drastically reduced in size due to a catastrophic event. When this happens, much of the genetic diversity in the original population is lost because the few surviving individuals carry only a small sample of the original genetic variation.

Examples of Population Bottlenecks:

  • Northern elephant seals were hunted to near extinction (fewer than 30 individuals remained)
  • American bison population crashed from millions to a few hundred in the 1800s
  • Cheetahs went through a severe bottleneck about 12,000 years ago

After a bottleneck, the remaining genetic variation becomes the foundation for the recovering population. This can lead to:

  • Reduced genetic diversity
  • Higher rates of genetic disorders
  • Decreased ability to adapt to environmental changes
  • Greater similarity between individuals in the population

The bottleneck effect explains why some species have surprisingly low genetic diversity despite having large current populations. Even as numbers recover, the genetic diversity lost during the bottleneck cannot be quickly restored without mutation or gene flow from other populations.

The Founder Effect

The founder effect occurs when a small group of individuals separates from a larger population and establishes a new, isolated population. The founders carry only a small sample of the genetic diversity from the original population, and this limited genetic pool becomes the basis for the new population.

Key Features of the Founder Effect:

  • Starts with a small number of "founding" individuals
  • New population has reduced genetic diversity
  • Certain alleles may be overrepresented or absent
  • Can lead to higher frequencies of rare traits or disorders
  • Often occurs during colonization of new habitats or geographic isolation

Real-world examples of the founder effect include:

  • The Amish communities in the United States, which have high rates of certain genetic disorders
  • The Afrikaner population in South Africa, with elevated frequencies of specific inherited diseases
  • Island populations that were established by small groups of colonizers

![Founder Effect](Image courtesy of WikiMedia Commons.)

The founder effect can be viewed as a special case of the bottleneck effect, where the population reduction happens at the beginning of a new population rather than within an existing one. Both effects highlight how random sampling of genes can significantly alter the genetic makeup of populations.

Gene Flow: Genetic Exchange Between Populations

Gene flow (also called migration) is the movement of alleles from one population to another when individuals or their gametes travel between populations. Unlike genetic drift, which tends to reduce genetic variation within populations, gene flow usually increases genetic diversity by introducing new alleles.

Effects of Gene Flow:

  • Increases genetic diversity within populations
  • Decreases genetic differences between populations
  • Can introduce beneficial adaptations from one population to another
  • May prevent speciation by keeping separate populations genetically connected
  • Can counteract the effects of natural selection or genetic drift

Gene flow occurs through:

  • Migration of individuals between populations
  • Pollen transfer between plant populations
  • Seed dispersal to new areas
  • Human-assisted movement of organisms

The amount of gene flow between populations depends on:

  • Geographic distance (closer populations typically exchange more genes)
  • Physical barriers (mountains, rivers, oceans)
  • Behavioral barriers (mating preferences, territorial behavior)
  • Timing differences (different breeding seasons)

How Population Size Affects Genetic Change

Population size dramatically influences how random processes affect evolution. In general, the smaller the population, the greater the impact of random events on its genetic makeup.

Comparison of Evolutionary Forces by Population Size:

Population SizeGenetic DriftNatural SelectionMutationGene Flow
Very Small (<100)Very strong effectOften overwhelmed by driftLimited new variationCan have major impact
Small (100-1,000)Strong effectMay be counteracted by driftSlow accumulationImportant source of variation
Medium (1,000-10,000)Moderate effectGenerally effectiveSteady source of variationModerates local adaptation
Large (>10,000)Minimal effectVery effectiveConsistent sourceMay homogenize populations

This relationship explains why endangered species with small populations are at risk not just from external threats but also from genetic problems like inbreeding depression and loss of adaptive potential.

How Genetic Variation Affects Evolution

Genetic variation is essential for evolution and adaptation. It provides the raw material upon which natural selection acts. Populations with more genetic variation generally have greater evolutionary potential and adaptability to changing environments.

Sources of Genetic Variation:

  • Mutations: Create entirely new alleles
  • Sexual reproduction: Recombines existing alleles in new ways
  • Gene flow: Introduces alleles from other populations

Effects of Reduced Genetic Variation:

When genetic variation within a population is reduced (through bottlenecks, founder effects, or strong selection), several things can happen:

  1. The population may become more vulnerable to environmental changes
  2. Harmful recessive alleles may become more common
  3. The population may show less phenotypic diversity
  4. Differences between separate populations of the same species may increase

This last point is particularly important: when populations lose genetic variation, they often become more distinct from each other. This happens because the random subset of genes that remains in each population after a bottleneck or founder event will likely be different, and subsequent mutations and selection will further differentiate them.

From Population Genetics to Speciation

The processes that change allele frequencies within populations can eventually lead to the formation of new species. When populations become isolated and experience different selective pressures or random genetic changes, they may evolve to become so different that they can no longer interbreed successfully.

This process of speciation often follows these steps:

  1. Population separation: Geographic barriers prevent gene flow between populations
  2. Genetic divergence: Mutation, genetic drift, and natural selection cause the populations to become genetically different
  3. Reproductive isolation: Genetic differences lead to barriers that prevent successful interbreeding
  4. Speciation: The populations become distinct species that cannot produce viable offspring together

The founder effect, in particular, can accelerate speciation by establishing populations with distinct genetic characteristics that then evolve separately from the original population.


Population genetics reveals how random processes like mutations, genetic drift, and gene flow work alongside natural selection to drive evolutionary change. These mechanisms can dramatically alter the genetic makeup of populations, especially when populations are small or isolated. Understanding population genetics helps explain both how species adapt to their environments and how new species can form over time. By studying these processes, we gain insight into the complex interplay of chance and selection that shapes the diversity of life on Earth.

Vocabulary

The following words are mentioned explicitly in the College Board Course and Exam Description for this topic.

TermDefinition
allele frequenciesThe proportion or percentage of a specific allele in a population's gene pool.
bottleneck effectA type of genetic drift that occurs when a population is drastically reduced in size, causing random changes in allele frequencies.
evolutionThe process of change in living organisms over time, involving genetic modifications and adaptation to environments.
founder effectA type of genetic drift that occurs when a small group of individuals establishes a new population, resulting in allele frequencies that differ from the original population.
gene flowThe transfer of alleles into or out of a population as a result of migration.
genetic driftRandom changes in allele frequencies in a population due to nonselective processes, particularly in small populations.
genetic makeupThe complete set of alleles and genes present in a population that determine the heritable traits of its members.
genetic variationDifferences in DNA sequences and alleles that exist within a population.
migrationThe movement of individuals (and their alleles) into or out of a population; must be absent for Hardy-Weinberg Equilibrium.
mutationAn alteration in a DNA sequence that can cause changes in the type or amount of protein produced and the resulting phenotype.
mutationsRandom changes in DNA sequences that create new genetic variations in populations.
random occurrencesUnpredictable events that affect allele frequencies in populations independent of natural selection.
random processesUnpredictable events that cause changes in allele frequencies in populations, independent of natural selection.

Frequently Asked Questions

What is genetic drift and how does it actually work?

Genetic drift is random change in allele frequencies that happens because populations are finite—it’s not driven by natural selection. In small populations, chance events (sampling error) can make some alleles become more or less common from one generation to the next. Two classic examples: a bottleneck (population size suddenly falls, losing alleles and reducing heterozygosity) and the founder effect (a few individuals start a new population with allele frequencies that differ from the source). Drift can lead to fixation (an allele reaching frequency 1.0) or loss, and it makes populations diverge even without selection (LO 7.4.A–C). Remember: the smaller the effective population size, the stronger drift is. For AP review, link this to Hardy–Weinberg expectations (drift violates the “infinite population” assumption). For quick review and practice, see the Topic 7.4 study guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and try practice problems (https://library.fiveable.me/practice/ap-biology).

Why do small populations evolve differently than large populations?

Small populations evolve differently mainly because random events (genetic drift) have a much bigger effect. In small populations, sampling error can change allele frequencies just by chance, so alleles can become fixed or lost quickly and heterozygosity drops. Bottleneck events (a sharp size reduction) and founder effects (a few individuals start a new population) are special cases of drift that shift trait frequencies away from the original population. Mutation still adds variation, and gene flow (migration) can bring alleles in or out, but in small groups these random processes can overwhelm selection. Effective population size matters more than raw census size—fewer breeding individuals = stronger drift. On the AP exam you should be able to define drift, give examples (bottleneck/founder), and explain effects on allele frequency and heterozygosity (LO 7.4.A, 7.4.B, 7.4.C). For a quick review check the Topic 7.4 study guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and extra practice (https://library.fiveable.me/practice/ap-biology).

What's the difference between the bottleneck effect and the founder effect?

Both are forms of genetic drift—random changes in allele frequencies in small populations—but they differ in how the small population is created. - Bottleneck effect: a large population is suddenly reduced (natural disaster, disease), so only a few survivors pass on genes. That sudden drop causes loss of alleles, reduced heterozygosity, and possible allele fixation by chance. It’s about a temporary population crash. - Founder effect: a small group splits off and starts a new, isolated population (colonization of an island). The new population’s allele frequencies reflect the founders’ gene pool (sampling error), which can make it different from the original population and start divergence. Both illustrate how random processes (sampling error, effective population size) change allele frequency without selection—exactly what EK 7.4.A.2–4 cover. For a quick topic review, see the AP Topic 7.4 study guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM). Need practice problems? Try the AP practice set (https://library.fiveable.me/practice/ap-biology).

Can someone explain gene flow in simple terms?

Gene flow = movement of alleles between populations because individuals (or their gametes) migrate. If some members of Population A move to Population B and breed, they add their alleles to B and change allele frequencies. That’s important in the CED: migration can result in gene flow (EK 7.4.A.1.v) and gene flow tends to prevent two populations from diverging into separate species (EK 7.4.B.1.iii). Simple examples: a few birds from one island join another island’s population, bringing new color alleles; pollen carried by wind moves alleles between plant populations. On the AP exam you might be asked how gene flow affects Hardy–Weinberg equilibrium (it’s a force that disrupts isolation) or to explain how migration changes allele frequency over time (LO 7.4.A/7.4.B/7.4.C). For a quick Topic 7.4 review check this study guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and use practice questions (https://library.fiveable.me/practice/ap-biology) to test examples.

I'm confused about how mutations affect evolution - aren't most mutations bad?

Short answer: no—most mutations are neutral, not outright bad. Mutations are random changes in DNA that add genetic variation (EK 7.4.A.1.i). Many occur in noncoding regions or don’t change amino acids, so they have little or no effect (neutral theory). Some are harmful and removed by selection; a few are beneficial and can increase fitness. Over long time, that small number of beneficial mutations fuels adaptation via natural selection (EK 7.4.B.1.i). Remember random processes also shift allele frequencies: genetic drift, bottlenecks, founder effects, and gene flow can fix or lose mutations regardless of benefit (EKs 7.4.A.1.ii–v, 7.4.B.1.ii–iii). On the AP exam you may be asked to explain how mutation rate and random events change allele frequency or heterozygosity (LO 7.4.A/C). Want practice applying this? Check the Topic 7.4 study guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and hundreds of practice questions (https://library.fiveable.me/practice/ap-biology).

How does genetic drift cause populations to diverge from each other?

Genetic drift is random change in allele frequencies that’s strongest in small populations. Because of sampling error, some alleles get passed on by chance more than others each generation; over time that randomness can lead one population to fix an allele (frequency = 1) while another population fixes a different allele. Two common ways drift causes divergence are the bottleneck effect (population size suddenly drops, reducing heterozygosity) and the founder effect (a small group starts a new population with a nonrepresentative set of alleles). Drift reduces effective population size and can erase variation that selection might act on, so isolated populations drift apart genetically unless gene flow mixes alleles back in. This idea is in the CED (EK 7.4.A.2–4 and EK 7.4.B.1–2) and is tested on the AP exam under Topic 7.4—see the Topic 7 population genetics study guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and more practice problems (https://library.fiveable.me/practice/ap-biology).

What happens to allele frequencies when a population goes through a bottleneck?

When a population goes through a bottleneck (its size is suddenly reduced to a small number for at least one generation), allele frequencies can change dramatically by chance—this is genetic drift (EK 7.4.A.1.iii). Rare alleles are often lost, overall heterozygosity drops, and some alleles can become fixed just by sampling error. Because the surviving gene pool is small, random fluctuations have a much bigger effect than selection, so the population can diverge genetically and lose adaptive potential. Bottlenecks reduce effective population size and increase the chance that harmful or neutral alleles become common. For AP study, remember: bottleneck = a form of genetic drift that shifts allele frequencies randomly and can decrease genetic variation (LO 7.4.A, LO 7.4.C). For more examples and practice, check the Topic 7.4 study guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and more practice questions (https://library.fiveable.me/practice/ap-biology).

Why does migration prevent populations from becoming separate species?

Migration (movement of individuals) causes gene flow—the addition or removal of alleles between populations. If individuals keep moving and breeding between two groups, they share alleles and keep allele frequencies similar, so the populations can’t accumulate the different mutations or drift-driven changes that lead to reproductive isolation. Speciation requires populations to diverge genetically enough that they no longer interbreed; constant gene flow counteracts that by mixing genes and preventing fixation of unique alleles (EK 7.4.A.1.v and EK 7.4.B.1.iii). In short: migration reconnects gene pools, reducing genetic drift and local adaptation that would otherwise push populations toward separate species. For a quick AP-aligned review of gene flow and related terms (founder effect, bottleneck, genetic drift), check the Topic 7.4 study guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) or the Unit 7 overview (https://library.fiveable.me/ap-biology/unit-7). Practice problems are also available (https://library.fiveable.me/practice/ap-biology).

How do random processes like genetic drift actually change evolution?

Genetic drift changes evolution by randomly changing allele frequencies from one generation to the next—especially in small populations. Think of reproduction as sampling: by chance some alleles get over- or under-represented (sampling error). That randomness can cause alleles to drift to fixation (frequency = 1) or loss (frequency = 0), reduce heterozygosity, and make small populations diverge from others. Bottlenecks (sharp size reductions) and founder effects (new pops started by few individuals) are special cases that strongly shift allele frequencies. Drift is stronger when effective population size (Ne) is small; the fixation probability of a new neutral mutation ≈ 1/(2Ne). Drift can oppose or reinforce natural selection and is a core random process in LO 7.4.A/B—it’s tested on the AP (you should be able to explain allele-frequency change and cite bottleneck/founder effects as examples). For a clear CED-aligned review, check the Topic 7.4 study guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and practice problems (https://library.fiveable.me/practice/ap-biology).

What's the difference between genetic drift and natural selection?

Genetic drift and natural selection both change allele frequencies, but they work very differently. Genetic drift is random change—alleles go up or down in frequency by chance events (sampling error). It’s strongest in small populations and includes bottleneck and founder effects; drift can fix alleles or reduce heterozygosity even if those alleles aren’t beneficial (EK 7.4.A.2–4). Natural selection is nonrandom: alleles that give higher fitness become more common because those individuals leave more offspring. Selection requires heritable variation (mutations add variation; EK 7.4.A.1.i) and shifts the population toward adaptive traits. On the AP exam, expect drift questions to mention small population size, bottlenecks/founder events, or random sampling, while selection questions will ask about fitness advantages, phenotype changes, or adaptive explanations (LO 7.4.A, 7.4.B, 7.4.C). For a quick review, check the Topic 7.4 study guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and try practice questions (https://library.fiveable.me/practice/ap-biology).

I don't understand how the founder effect works - can someone give me a real example?

The founder effect happens when a few individuals start a new, isolated population so the new population’s allele frequencies reflect that small group—not the original population. Real example: some Amish communities trace back to a small number of founders; because a rare allele (for Ellis–van Creveld syndrome, which causes short stature and extra fingers) was present in a founder, that allele is much more common in the Amish than in the general population. That’s genetic drift: in small founder populations you can get reduced heterozygosity, rapid changes in allele frequency, and even fixation of alleles without natural selection (EK 7.4.A.1.iv). On the AP exam, be ready to connect founder effect → change in allele frequency, small population size, and potential divergence from the original population (LO 7.4.A, LO 7.4.B). For a short study review, see the Topic 7.4 guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and practice problems (https://library.fiveable.me/practice/ap-biology).

How do scientists measure changes in allele frequencies over time?

You track allele-frequency change by sampling and counting genotypes over time, then converting those counts to allele frequencies and comparing generations. Practically: genotype a representative sample (sequencing or PCR), compute p = (2·#AA + #Aa)/(2N) and q = 1 − p, repeat at later times, and plot/change. Use Hardy–Weinberg as a null model (no evolution)—deviations suggest evolution (LO 7.4.C). Statistical tools (chi-square, confidence intervals) tell you if changes are real vs. sampling error. You also measure heterozygosity, fixation (allele at frequency 1), and estimate effective population size (Ne) to predict drift strength. Models like Wright–Fisher or neutral theory let you compare observed shifts to expectations from drift vs. selection or gene flow. For practice and a short study guide on Topic 7.4, see Fiveable (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and try problems at (https://library.fiveable.me/practice/ap-biology).

Why do random mutations provide material for natural selection to work on?

Random mutations change DNA sequences randomly, creating new alleles that can change an organism’s traits (phenotypes). Because natural selection acts on phenotypes, those new traits give selection something to “choose” from: beneficial mutations can increase in frequency, deleterious ones can decrease, and neutral ones may drift. That’s exactly EK 7.4.B.1 and EK 7.4.A.1—mutation is the random source of genetic variation, while selection is the nonrandom process that changes allele frequencies over time (LO 7.4.A and LO 7.4.C). In small populations random processes like genetic drift (founder/bottleneck effects) can also change allele frequencies independent of selection. On the AP exam you should be able to explain that mutations supply heritable variation and connect changes in allele frequency to evolution (use Hardy–Weinberg ideas to show deviation). Review the Topic 7.4 study guide for examples and practice (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and try extra practice problems at (https://library.fiveable.me/practice/ap-biology).

What evidence shows that evolution has occurred in a population?

The clearest evidence that evolution has occurred in a population is a change in allele frequencies over time—i.e., the proportions of different alleles shift from one generation to the next (EK 7.4.C.1). You can document that by genotyping individuals across generations and showing allele-frequency change. Causes include random processes (mutation adds new alleles; genetic drift, bottlenecks, and founder effects change frequencies by sampling error) and nonrandom processes (natural selection favors some alleles; gene flow adds/removes alleles via migration)—all listed in the CED (EK 7.4.A.i–v, 7.4.B.1–3). On the AP exam you’ll often identify evolution by showing deviation from Hardy–Weinberg expectations (HW equilibrium broken → evolution). For a quick review and examples (including practice problems), check the Topic 7.4 study guide (https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM) and unit overview (https://library.fiveable.me/ap-biology/unit-7). For extra practice, use Fiveable’s practice question bank (https://library.fiveable.me/practice/ap-biology).

How does gene flow between populations affect their genetic makeup?

Gene flow (migration) is the movement of alleles between populations and it changes allele frequencies by adding or removing alleles. If individuals migrate and breed, new alleles enter the gene pool and can increase heterozygosity or introduce adaptive or deleterious variants. On the AP CED this is listed under EK 7.4.A.v and EK 7.4.B.1.iii: gene flow tends to homogenize populations, preventing them from diverging into separate species by reducing genetic differences. It can also counteract genetic drift (especially in small populations) and slow local adaptation if immigrants continually bring in alternative alleles. In short: gene flow mixes genetic variation, can increase genetic diversity in the recipient population, and makes separate populations more genetically similar (see Topic 7.4 study guide: https://library.fiveable.me/ap-biology/unit-7/population-genetics/study-guide/W2p2XxaDmtKBRhLnXkYM). For extra practice on allele-frequency problems, check the unit overview (https://library.fiveable.me/ap-biology/unit-7) and practice questions (https://library.fiveable.me/practice/ap-biology).