Germ and somatic cells, and mutation as a source of variation

Molecules (Continuity and change) · Mutation and gene editing · note 3 of 3

Germ and somatic cells, and mutation as a source of variationSpec D1.3.6, D1.3.7

In short

A mutation in a germ cell can be passed to offspring and is then in every cell of the new organism. A mutation in a somatic cell affects only that cell and its descendants and is not inherited, though it may lead to cancer. Gene mutation is the original source of all genetic variation, essential for evolution by natural selection.

Germ cells and somatic cells

Consequences of mutation in different cells
Germ cellsSomatic cells
What they areCells that produce gametes (and the gametes themselves)All other body cells
Inherited?Yes: a mutated gene can be passed to offspringNo: not passed to offspring
Cells affectedEvery cell of an offspring that inherits itOnly the mutated cell and the cells produced from it by mitosis
Possible consequenceInherited genetic disease, or new variation in the populationCancer, if mutations affect genes that control cell division

Cancer develops when mutations in a somatic cell cause it to divide repeatedly without control, forming a tumour. Usually several mutations in the same cell line are needed, which is one reason cancer becomes more common with age and with exposure to mutagens.

Mutation as a source of genetic variation

Gene mutation is the original source of all genetic variation: it is the only process that creates new alleles. Meiosis and fertilisation shuffle existing alleles into new combinations, but cannot create new ones. Most mutations are either harmful or neutral for an individual organism, but in a species over the long term they are essential for evolution by natural selection, because selection can only act on variation that already exists.

Exam tip:

Nature of science: commercial genetic tests can give information about potential future health and disease risk. Without expert interpretation, this information could be misunderstood and cause needless worry or false reassurance.

Exam tip:

Linking question: how can natural selection lead to both a reduction in variation and an increase in biological diversity? Mutation supplies the variation; selection removes some alleles within a population but can drive populations apart into new species.

Quick check

  1. What is a single-nucleotide polymorphism (SNP)?

    Show answer

    A position in the genome where a single base differs between individuals, resulting from a base substitution mutation.

  2. Why does deleting one base usually have a larger effect than substituting one base?

    Show answer

    It shifts the reading frame, changing every codon after the mutation.

  3. Give one chemical mutagen and one form of mutagenic radiation.

    Show answer

    Benzo[a]pyrene (in tobacco smoke); ultraviolet light (or X-rays, gamma rays).

  4. Why are somatic mutations not inherited?

    Show answer

    They are not in germ cells, so they are not passed into gametes.

Written and checked against the IB Biology SL specification · Updated October 2026

Frequently asked questions

What is the difference between a substitution and a frameshift mutation?

A substitution replaces one base with another, so only one codon changes and at most one amino acid is altered; it may have no effect because the genetic code is degenerate. A frameshift is caused by inserting or deleting bases that are not a multiple of three, changing every codon afterwards, so the polypeptide usually stops functioning.

What causes gene mutations?

Gene mutations are caused by mutagens and by errors in DNA replication or repair. Chemical mutagens include benzo[a]pyrene and nitrosamines in tobacco smoke. Mutagenic radiation includes ultraviolet light, X-rays and gamma rays. Mutations occur at random anywhere in the genome; no natural mechanism deliberately changes a particular base to change a trait.

Why are mutations important for evolution?

Mutations are important for evolution because gene mutation is the original source of all genetic variation: it is the only process that creates new alleles. Most mutations are harmful or neutral for an individual, but over long periods some new alleles increase survival and reproduction, so natural selection can act on them and species can evolve.

Finished mutation and gene editing? Test yourself:Exam questionsFlashcards