IB Biology SL Topic 4 — Mutations & Gene Editing Paper 1 & 2 Core idea ~8 min read

Mutations & Genetic Variation

Meiosis and fertilisation get all the attention for creating variation, but neither of them can invent anything. They deal the cards; mutation is what printed them in the first place. That distinction is worth a lot of marks.

📘 What you need to know

What variation is

No two members of a species are identical. Coat colour differs between mammals, body length differs between fish of the same species, flower colour differs between plants of the same kind. All of these differences are called variation.

Underneath every one of them are small differences in the base sequence of the DNA carried by individual organisms in a population. Different base sequence, different allele, different characteristic.

Where the differences come from

Three sources of variation, but only one makes something new MUTATION MEIOSIS FERTILISATIONchanges the base sequence itself shuffles alleles into new combinations combines two random gametesmakes NEW alleles uses existing alleles uses existing allelesWithout mutation there would be nothing for the other two to shuffle That is why mutation is called the original source of genetic variation
Meiosis and fertilisation are brilliant at making new combinations. Neither can produce an allele that did not already exist somewhere.

Think of a deck of cards. Meiosis shuffles the deck, and fertilisation deals two random hands together. Both produce combinations nobody has seen before — but the cards themselves were printed by mutation. Every allele in every organism alive today started as a mutation at some point in the past.

If a question asks for the original source of variation, the answer is mutation, and nothing else. If it just asks for sources of variation, give all three.

What happens to a new allele

A mutation produces a new allele, and that allele can turn out to be useful, harmful, or neither. Nothing about the mutation decides this — the environment does.

Three fates for a new allele a mutation makes a new allele ADVANTAGEOUS NO EFFECT DISADVANTAGEOUSmore likely passed on may simply persist more likely to die outThe environment decides which of the three happens, not the mutation itself
The same allele can sit in different boxes in different places. Sickle cell is a good reminder of that.

Over long periods this is what drives evolution by natural selection. Without mutation supplying new alleles, natural selection would eventually have nothing left to select between.

Which mutations count for evolution? Only those in the dividing cells of the sex organs, because only those end up in gametes. A mutation in a body cell is never passed on, so it has no effect on natural selection at all.

Asexual reproduction: mutation is all there is

Meiosis and random fertilisation both belong to sexual reproduction. An organism that reproduces asexually has neither, so its offspring are genetically identical to the parent — unless a mutation occurs. For those species, mutation is the only source of variation.

This is also why new strains of bacteria and viruses keep appearing. They reproduce quickly and in huge numbers, so even a low mutation rate produces plenty of new variants.

Nature of science: commercial genetic testing

Genetic tests can tell you about your risk of future disease. There are two very different routes to getting one, and the difference matters.

FeatureClinical (medical) testingCommercial testing
Who arranges itA healthcare provider — doctor, nurse practitioner or genetic counsellorThe customer, by buying a kit online or in a shop
Choosing the testThe provider decides which test is appropriate and orders it from a laboratoryThe customer decides, with no professional advice
Getting the resultsExplained by the provider, who checks the person understands what they meanSent straight back from the company, often with no interpretation
Support afterwardsCounselling and follow-up availableFrequently none at all

The concern with commercial testing is not the technology; it is what happens after the envelope is opened:

Nature of science questions want a balanced answer, not an opinion. Give the benefit (access to your own genetic information without a gatekeeper) and then the risks (accuracy, distress, misinterpretation, no counselling).

Worked examples

WORKED EXAMPLE

Explain why mutation is the original source

Meiosis and random fertilisation both produce variation. Explain why mutation is still described as the original source of genetic variation.

Point 1: What meiosis and fertilisation do They produce new combinations of alleles that already exist. Point 2: What mutation does It changes the base sequence, which creates a new allele that did not exist before. Point 3: Put them together Without mutation there would be no new alleles for the other two processes to rearrange. Only mutation creates new alleles The word to get in there is “new”. Combinations are not the same as new alleles.
WORKED EXAMPLE

Variation in a bacterial population

Bacteria reproduce asexually. Explain how variation still arises in a population of bacteria.

Step 1: Rule out the other two sources No meiosis and no fertilisation, so no shuffling of alleles. Step 2: Identify what is left Mutation is the only source of variation Step 3: Explain why it is enough Bacteria reproduce rapidly and in vast numbers, so even a low mutation rate produces many new variants — which is how new strains appear. Mutation alone This is the standard route into antibiotic resistance questions, so it is worth knowing well.
WORKED EXAMPLE

Evaluate a home genetic test

A person buys a genetic test kit online and is told they carry an allele linked to a serious disease. Outline two problems with relying on this result.

Problem 1: Accuracy Commercial tests are not always scientifically validated, so the result may be inaccurate. Problem 2: Interpretation There is usually no professional to explain what carrying the allele actually means for their risk. Why it matters The person may be distressed, or make an important treatment decision based on a misunderstanding. Unvalidated result, no counselling “Outline two problems” means exactly two, each with a short explanation. Do not write four.

💡 Exam tip

⚠ Common mix-up

Up next: Cell Division — how one cell becomes two, and why the nucleus always has to divide before the cytoplasm does.

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