AQA GCSE Biology

Inheritance, Variation & Evolution

A single changed DNA base can be silent—or help reshape a population over generations.

Follow information from DNA to proteins and phenotypes, predict inheritance, then zoom out. Variation gives natural selection something to work on; time turns that filtering into evolution.

  • Trace DNA → gene → protein → phenotype
  • Turn Punnett squares into probabilities, not promises
  • Explain evolution as a population changing over time
  • 15 illustrated pages
  • Examva Pro
  • Combined & Separate
  • Foundation & Higher

Your revision route

What you’ll learn

  • Compare sexual and asexual reproduction and explain the roles of meiosis, gametes and fertilisation.
  • Connect DNA, genes, chromosomes, proteins, the genome and inherited characteristics.
  • Use genetic terminology, Punnett squares, ratios and probabilities accurately.
  • Explain inherited disorders and evaluate embryo screening using supplied evidence.
  • Distinguish genetic, environmental and combined causes of variation.
  • Explain natural selection, evolution and speciation as linked population processes.
  • Compare selective breeding, genetic engineering and, for separate Biology, cloning.
  • Evaluate evidence for evolution and explain antibiotic resistance by natural selection.
  • Use classification systems and evolutionary trees to infer relationships.

Build the big picture

Key ideas

Sexual reproduction shuffles; asexual reproduction copies

Two routes make offspring, but only one mixes genetic information from two gametes.

  • Sexual reproduction fuses male and female gametes; meiosis makes the gametes and their genetic information mixes at fertilisation.
  • Asexual reproduction uses one parent, no gamete fusion and mitosis, so offspring are genetically identical clones unless mutation occurs.
  • In animals the gametes are sperm and egg cells; in flowering plants they are pollen and egg cells.

The punchline: Connect sexual reproduction to variation and asexual reproduction to clones.

Meiosis halves; fertilisation restores

Gametes carry one chromosome set, preventing the chromosome number from doubling every generation.

  • In reproductive organs, DNA is copied and the cell divides twice to form four genetically different gametes.
  • Each gamete has a single chromosome set; fertilisation joins two gametes and restores the normal number.
  • The fertilised cell divides by mitosis, the embryo gains cells and those cells later differentiate.
  • AQA does not require the named stages of meiosis.

The punchline: Meiosis makes different haploid gametes; mitosis makes more body cells.

Separate Biology: reproduction is a trade-off

Fast copying excels in stable conditions; genetic variety becomes valuable when conditions change.

  • Asexual reproduction needs no mate, is faster and can produce many identical offspring when conditions are favourable.
  • Sexual reproduction takes more time and energy but produces variation that may help some offspring survive environmental change.
  • Malaria parasites reproduce asexually in humans but sexually in mosquitoes; fungi reproduce asexually by spores and also sexually.
  • Plants can make seeds sexually and reproduce asexually: strawberry runners and daffodil bulb division are named AQA examples.

The punchline: Judge the better method from the conditions, not from a memorised winner.

DNA stores information at several scales

The vocabulary nests neatly: genes sit on DNA molecules, DNA forms chromosomes, and all the DNA forms a genome.

  • DNA is a polymer of two strands forming a double helix; long DNA molecules are packaged as chromosomes.
  • A gene is a small DNA section whose base sequence codes for a particular amino-acid sequence and protein.
  • The genome is an organism's entire genetic material.
  • Genome research can help find disease-linked genes, understand inherited disorders and trace past human migration.

The punchline: Write the scale chain: base sequence → gene → DNA → chromosome → genome.

Separate Biology: DNA becomes useful through protein

DNA is an instruction sequence; a protein's folded shape is where that information meets a biological job.

  • Separate Biology: repeating nucleotides form DNA—sugar and phosphate alternate along each strand, with A, C, G or T attached; interpret this structure but need not draw it.
  • Three bases code for one amino acid, so base order controls amino-acid order in the protein.
  • Higher Tier: A pairs with T and C with G; ribosomes assemble amino acids brought by carrier molecules, then the chain folds.
  • Higher Tier: a coding-DNA variant can alter protein activity; a non-coding variant can alter gene expression.

The punchline: Trace any mutation through base sequence, protein shape or amount, then phenotype.

From DNA letters to a visible characteristic

A phenotype is not written directly on a chromosome. Genetic information works through molecules, cells and often the environment.

  1. DNAA double-stranded polymer carrying genetic information in its base sequence.
  2. GeneA section of DNA that codes for a particular amino-acid sequence and protein.
  3. ProteinThe amino-acid chain folds into a shape suited to a structural, enzyme or hormone role.
  4. PhenotypeThe expressed characteristic develops from genotype, often interacting with environmental conditions.
Separate Biology Higher Tier adds the detailed protein-synthesis steps; every tier should preserve the information chain.

Alleles link genotype to phenotype

Genetic-cross questions become manageable once each symbol has one precise meaning.

  • An allele is a version of a gene. A dominant allele is expressed with one copy; a recessive allele needs two copies to be expressed.
  • Homozygous means two identical alleles; heterozygous means two different alleles.
  • Genotype is the allele combination; phenotype is the expressed characteristic produced at the molecular level.
  • Most characteristics involve multiple genes, and many also interact with environmental conditions.

The punchline: Define the symbols before drawing a cross.

A Punnett square counts possible outcomes

It is a tidy probability model, not a crystal ball for the next child.

  • Write one allele from each parent on the outside, then combine one from each to fill every offspring box.
  • Count genotype or phenotype boxes and express the outcome as a probability, fraction, percentage or simple ratio.
  • Higher Tier questions may require constructing the entire cross from the information given.
  • Each fertilisation is a separate event; a 25% probability does not guarantee one affected child in every four births.

The punchline: Show parental genotypes, gametes, offspring genotypes and the requested probability.

Inherited disorders require careful probability language

An allele can alter health, but a cross predicts chance—not certainty or severity.

  • Polydactyly is caused by a dominant allele; cystic fibrosis is caused by a recessive allele affecting cell membranes.
  • Embryo screening can identify embryos with particular alleles; transfer decisions involve medical, economic, social and ethical considerations.
  • Evaluate from the information supplied: benefit, limitation, risk, cost and differing viewpoints all matter.

The punchline: Separate the genetic probability from the ethical judgement.

Human sex chromosomes make a one-gene-style cross

Egg cells contribute X; sperm cells contribute X or Y, producing an approximately equal probability in the model.

  • Ordinary human body cells contain 23 chromosome pairs: 22 autosome pairs and one sex-chromosome pair.
  • Females usually have XX sex chromosomes and males usually have XY in the AQA model.
  • An XX × XY cross predicts a 1:1 ratio of XX to XY offspring, or a probability of one half for each.

The punchline: The sperm cell supplies the X or Y chromosome in this model.

Make the model move

Interactive checkpoint

Touch the science. Change a state, build a route or test a relationship.

Decode the genetics

Match each term to what it actually describes

Pair the genetic term with its precise meaning. Similar-sounding words do very different jobs here.

A gene is a DNA section; an allele is one form of it. Genotype names the alleles present, while phenotype is the expressed characteristic.

Build the explanation

Put natural selection in causal order

Arrange the events from variation in the starting population to a changed population many generations later.

Choose the first step below.

Natural selection needs inherited variation, a selection pressure, unequal reproductive success and inheritance across many generations.

Variation gives populations options

A population with many inherited variants is carrying several possible answers to an unknown future.

  • Variation means differences among individuals of a population; causes can be genetic, environmental or a combination of both.
  • All genetic variants ultimately arise from mutations, which occur continuously.
  • Most mutations do not affect phenotype, some influence it and very few create a new phenotype.
  • A rare new phenotype may spread rapidly if it suits a changed environment and is inherited.

The punchline: Classify the cause of variation, then explain how genotype and environment interact.

Evolution changes populations, not individuals

Natural selection repeatedly filters inherited variation until a population's characteristics shift.

  • Across generations, natural selection shifts which inherited characteristics are common in a population; that population-level shift is evolution.
  • Better-suited phenotypes can increase survival and reproductive success, so their alleles become more common over generations.
  • If divergence prevents two populations from breeding successfully with each other and producing fertile offspring, they have formed separate species.
  • All living species are understood to have evolved from simple life forms that appeared more than three billion years ago.

The punchline: Use the chain variation → selection → reproduction → inheritance → population change.

Selective breeding lets humans choose the filter

Humans repeatedly breed the organisms with a desired inherited feature, concentrating it over generations.

  • Choose parents with the desired characteristic, breed them, select suitable offspring and repeat for many generations.
  • Targets include disease-resistant crops, higher meat or milk yield, gentle animals and unusual flowers.
  • Repeated use of related organisms reduces genetic variation and can increase inherited defects or disease vulnerability.

The punchline: State the repeated selection step and the inbreeding risk.

Genetic engineering moves a chosen gene

Instead of waiting through generations, scientists can introduce a gene that gives a desired characteristic.

  • In genetic engineering, a selected gene from a donor is added to a recipient organism's genome.
  • Examples include bacteria producing human insulin and crops engineered for disease resistance, insect resistance, herbicide resistance or improved yield.
  • Potential benefits must be weighed against ecological effects, uncertainty, health concerns raised in the evidence and ethical objections.
  • Higher Tier: isolate the gene, insert it into a plasmid or virus vector, then transfer it into cells early in development.

The punchline: Name the gene, vector, recipient cell and desired characteristic when the detail is required.

Separate Biology: cloning copies a genotype

Cloning produces genetically identical organisms, but the route depends on whether the starting material is plant tissue, an embryo or an adult nucleus.

  • Plant tissue culture grows many plants from small cell groups; cuttings grow new plants from part of a parent.
  • Embryo transplants split unspecialised embryo cells before placing genetically identical embryos into host mothers.
  • Adult cell cloning puts an adult body-cell nucleus into an enucleated egg; an electric shock starts division, then the ball of cells is transferred to a womb.
  • Benefits in agriculture or medicine must be evaluated alongside low diversity, welfare risks and ethical objections.

The punchline: A clone shares nuclear genetic information; identical conditions and phenotypes are not guaranteed.

Natural selection is a filter, not a wish

Populations already contain inherited variation. The environment changes which variants leave more offspring.

  1. Inherited variationMutation creates new alleles; sexual reproduction reshuffles existing alleles into new combinations.
  2. Selection pressureA condition makes some inherited phenotypes better suited than others.
  3. Differential survivalBetter-suited individuals are more likely to survive and reproduce successfully.
  4. InheritanceTheir advantageous alleles are passed to a larger share of the next generation.
  5. Population changeOver generations, the advantageous inherited characteristic becomes more common.
Individuals are selected; populations evolve. Need, effort and exposure do not manufacture the useful allele.

Separate Biology: scientific ideas earn acceptance

A strong theory survives testing because evidence accumulates and mechanisms become clearer.

  • Darwin developed natural selection from observations and evidence; Wallace independently proposed it, leading to joint writings in 1858 and Darwin's 1859 publication.
  • Acceptance was gradual: evidence was limited, inheritance was unknown and the theory challenged established ideas; Wallace's warning-colouration and speciation work added evidence.
  • Lamarck proposed that changes acquired during life could be inherited; evidence shows this does not happen in the vast majority of cases.
  • Mendel's plant crosses suggested inherited units, but their importance was not recognised until after his death; chromosome and DNA work later linked the units to genes.

The punchline: Explain why evidence and a mechanism changed scientific confidence over time.

Evolution leaves several kinds of evidence

The fossil record is patchy, but it joins genetics and observed resistance as one line in a larger case.

  • Fossils can form when decay conditions are absent, when tissues are replaced by minerals or when traces such as footprints are preserved.
  • Early soft-bodied organisms left few fossils and geological activity destroyed many traces, so the record is incomplete and scientists cannot be certain how life began.
  • Fossils, inherited genes and observed antibiotic resistance support evolutionary theory; evolutionary trees organise relationship evidence.
  • Extinction occurs when no individuals of a species remain; environmental change, new predators, disease, competition or catastrophic events may contribute.

The punchline: Use evidence to support the theory without pretending the fossil record is complete.

Antibiotics select resistant bacteria; they do not train them

A resistant mutant can survive treatment, reproduce quickly and turn a rare allele into the population's new normal.

  • Random mutations produce bacterial variants; an antibiotic kills susceptible bacteria while resistant bacteria survive.
  • Survivors reproduce and pass on resistance, so the resistant strain becomes more common and can spread.
  • Reduce selection by avoiding inappropriate prescriptions, completing prescribed courses and restricting agricultural use.
  • New antibiotics are costly and slow to develop, so resistance can emerge faster than replacement treatments.

The punchline: Mutation happens first; antibiotic exposure selects the resistant variant.

Classification changes when the evidence improves

A filing system for life must be revised when microscopes, biochemistry and genetics reveal better relationships.

  • The Linnaean hierarchy is kingdom, phylum, class, order, family, genus and species; binomial names use genus and species.
  • Woese's domains are archaea (primitive bacteria, often in extremes), bacteria (true bacteria) and eukaryota (protists, fungi, plants and animals).
  • Evolutionary trees use current classification and fossil data to show proposed relationships among living and extinct organisms.

The punchline: Read branch points as common ancestry, not as one modern species turning into another.

Words worth knowing

Key definitions

gamete
A reproductive cell with one set of chromosomes, such as a sperm, egg or pollen cell.
meiosis
Cell division in reproductive organs that produces four genetically different gametes, each with one chromosome set.
clone
A cell or organism genetically identical to the parent cell or organism from which it was produced.
DNA
A polymer of two strands forming a double helix whose base sequence carries genetic information.
gene
A section of DNA on a chromosome that codes for a particular amino-acid sequence and protein.
genome
All the genetic material of an organism.
allele
One version of a gene.
dominant allele
An allele expressed in the phenotype when one or two copies are present.
recessive allele
An allele expressed in the phenotype only when two copies are present.
genotype
The combination of alleles an organism has for a gene or group of genes.
phenotype
The characteristics expressed by an organism through its genotype and interaction with the environment.
homozygous
Having two identical alleles for a particular gene.
heterozygous
Having two different alleles for a particular gene.
variation
Differences in characteristics among individuals in a population.
mutation
A change in DNA that creates a genetic variant; most have no effect on phenotype.
natural selection
The process in which inherited variants suited to the environment lead to greater reproductive success and become more common.
evolution
A population-level shift in inherited characteristics across generations, driven by natural selection.
species
A group of organisms able to interbreed and produce fertile offspring.
selective breeding
Human selection of parents with desired inherited characteristics for breeding over many generations.
genetic engineering
A technique that changes a genome by transferring a selected gene into an organism so it develops a chosen trait.

Calculate with confidence

Equations

Probability from a genetic cross

probability = target offspring outcomes / total equally likely outcomes

Uses a completed Punnett square to predict the chance of a genotype or phenotype from one fertilisation.

Symbols used in Probability from a genetic cross
SymbolMeaningUnit
target outcomesPunnett-square boxes matching the requested genotype or phenotypeoutcomes
total outcomesall equally likely boxes in the completed Punnett squareoutcomes
probabilitypredicted chance for one fertilisationfraction, decimal or %

Exam tip: Convert a fraction to a percentage by multiplying by 100, and state what the probability refers to.

Follow it step by step

Processes to remember

How to describe meiosis without unnecessary stage names

  1. A cell in a reproductive organ copies its genetic information.
  2. The cell divides twice.
  3. Four gametes form, each with one set of chromosomes.
  4. The gametes are genetically different from one another.
  5. At fertilisation, two gametes fuse and restore the normal chromosome number.

Exam tip: Contrast meiosis with mitosis only after stating chromosome number and genetic difference.

How to solve a single-gene cross

  1. Define the allele symbols, using the same letter for dominant and recessive forms.
  2. Write both parental genotypes and the gametes each parent can produce.
  3. Place one parent's gametes across the top and the other's down the side.
  4. Combine one allele from each parent in every box.
  5. Count the requested genotypes or phenotypes, then express the result as a ratio, fraction or percentage.

Exam tip: A recessive phenotype must have two recessive alleles; a dominant phenotype can be homozygous or heterozygous.

How to write a full natural-selection explanation

  1. State that inherited variation already exists in the population because of mutation and reproduction.
  2. Name the selection pressure in the question.
  3. Identify the phenotype that gives an advantage under that pressure.
  4. Explain that those individuals are more likely to survive and reproduce.
  5. State that offspring inherit the advantageous allele and it becomes more common over generations.

Exam tip: Do not say organisms mutate because they need to; the environment selects among variants already present.

Higher Tier: transfer a desired gene

  1. Use enzymes to isolate the required gene from donor DNA.
  2. Insert the gene into a vector, usually a bacterial plasmid or virus.
  3. Use the vector to transfer the gene into the required cells.
  4. Transfer genes early in development so the organism develops the desired characteristic.

Exam tip: Genetic engineering transfers a selected gene; selective breeding chooses whole organisms over generations.

See the thinking

Worked example

Worked example: carrier parents and cystic fibrosis

Cystic fibrosis is caused by recessive allele f. Two parents are carriers, so both are Ff. What is the probability that one child has cystic fibrosis?

  1. Each Ff parent can produce gametes carrying F or f.
  2. Combine the gametes in four equally likely boxes: FF, Ff, Ff and ff.
  3. Only ff expresses the recessive disorder, so one of four boxes is the target outcome.
  4. Probability = 1/4 = 0.25 = 25%.

Answer: The probability that one child has cystic fibrosis is 25%.

This is the probability for each pregnancy. Previous births do not change the allele combination produced by the next independent fertilisation.

Protect the marks

Common mistakes

Watch out: Saying meiosis produces identical body cells.

Do this instead: Meiosis produces genetically different gametes with one chromosome set; mitosis produces genetically identical daughter cells.

Watch out: Using different letters for dominant and recessive alleles.

Do this instead: Use the same letter in upper and lower case, such as F and f, because the alleles are forms of one gene.

Watch out: Calling genotype the visible characteristic.

Do this instead: Genotype is the allele combination; phenotype is the characteristic expressed.

Watch out: Treating a 25% probability as one affected child in every four births.

Do this instead: It is a chance for each independent fertilisation, not a guaranteed pattern across a family.

Watch out: Saying every characteristic is controlled by one gene.

Do this instead: Most characteristics involve several genes, and many phenotypes also interact with environmental conditions.

Watch out: Saying organisms evolve during their lifetime.

Do this instead: Evolution is change in inherited characteristics of a population across generations.

Watch out: Claiming organisms mutate because they need an adaptation.

Do this instead: Mutations occur continuously and without regard to need; selection favours some inherited variants under particular conditions.

Watch out: Saying antibiotics make bacteria resistant.

Do this instead: A mutation creates resistance first; the antibiotic then selects resistant bacteria by killing susceptible competitors.

Watch out: Calling selective breeding genetic engineering.

Do this instead: Selective breeding chooses parents over generations; genetic engineering introduces a selected gene into a genome.

Watch out: Assuming clones must have identical phenotypes.

Do this instead: Clones share genetic information, but environmental differences can change their phenotypes.

Try it before you move on

Quick check

Say your answer first, then open the card to check it.

Why does meiosis halve the chromosome number in gametes?

Answer: So fusion of two gametes at fertilisation restores the normal chromosome number.

Without halving, the chromosome number would double from one generation to the next.

What does heterozygous mean?

Answer: Having two different alleles for a particular gene.

For example, Ff contains one dominant allele and one recessive allele.

What genotype is required to express a recessive phenotype?

Answer: Two recessive alleles: a homozygous recessive genotype.

A dominant allele would be expressed if it were present.

Name the three broad causes of variation.

Answer: Genetic causes, environmental causes, or a combination of both.

Phenotype often develops through interaction between inherited alleles and conditions.

Why does an advantageous allele become more common?

Answer: Its carriers are more likely to survive, reproduce and pass it to offspring under the selection pressure.

Repeated unequal reproductive success changes the population across generations.

Which happens first: the resistance mutation or antibiotic selection?

Answer: The mutation producing a resistant variant happens first.

The antibiotic then kills susceptible bacteria, leaving resistant bacteria to reproduce.

What are the three domains in Woese's classification system?

Answer: Archaea, bacteria and eukaryota.

Chemical evidence led to this model, refining older classification based mainly on visible structures.

Good questions, clear answers

Frequently asked questions

Are genes and alleles the same thing?

No. A gene is a section of DNA associated with a product or characteristic; an allele is one version of that gene.

Does dominant mean common, stronger or better?

No. Dominant only means one copy is enough for that allele to be expressed in the phenotype. It says nothing about frequency, benefit or strength.

Can the environment change phenotype without changing DNA?

Yes. Nutrition, climate and other conditions can affect how a characteristic develops. Many phenotypes result from genotype interacting with environment.

Does natural selection give organisms the adaptations they need?

No. Inherited variation exists first. A selection pressure then makes some variants more likely to survive and reproduce, changing the population over generations.

What is the difference between selective breeding and genetic engineering?

Selective breeding chooses whole parents and repeats breeding over generations. Genetic engineering introduces a selected gene into an organism's genome.

Why is the fossil record incomplete?

Many organisms were soft-bodied, conditions for fossil formation are uncommon, and geological activity has destroyed many traces.

Is there an AQA required practical in this topic?

No specific required practical sits in AQA topic 4.6. The assessed practical-style skills here are chiefly genetic crosses, probability, data interpretation and evidence evaluation.

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