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Mutations and the phenotype

Reproduction and inheritance · Cell division, variation and evolution · note 5 of 7

Mutations and the phenotypeSpec 3.34, 3.35B, 3.36B

In short

A mutation is a rare, random change in genetic material that can be inherited. Usually it is a change in the base sequence of DNA. Mutations are one source of genetic variation, and a mutation that happens in a gamete, or in a cell that makes gametes, can be passed on to the offspring.

A mutation is a rare, random change in genetic material that can be inherited. Usually it is a change in the base sequence of DNA.

Mutations are one source of genetic variation. A mutation in a gamete, or in a cell that makes gametes, can be passed on to offspring.

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How a mutation can change the phenotype

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  1. A change in the DNA changes the base sequence of a gene.
  2. This can change the sequence of amino acids in the protein that the gene codes for.
  3. The protein may then fold into a different shape and no longer work in the same way. For example, an enzyme's active site may no longer fit its substrate.
  4. The change in the protein can change the phenotype.
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  • Most genetic mutations have no effect on the phenotype.
  • Some mutations have a small effect on the phenotype.
  • Rarely, a mutation has a significant effect on the phenotype.
Biology only (what this means)Biology only: only in International GCSE Biology. Double Award students can skip it. What the labels mean
Common mistake:

Do not write that all mutations are harmful. Most have no effect on the phenotype.

Written and checked against the Edexcel IGCSE Science Double Award (4SD0) specification · Updated October 2026

Frequently asked questions

What is the difference between mitosis and meiosis?

Mitosis produces two diploid cells that are genetically identical to the parent cell and is used for growth, repair, cloning and asexual reproduction. Meiosis produces four haploid gametes, each with half the number of chromosomes and genetically different from each other. In humans, mitosis gives cells with 46 chromosomes and meiosis gives gametes with 23.

How does meiosis create genetic variation?

Meiosis creates genetic variation because the four gametes it makes are genetically different from each other and from the parent cell. Fertilisation is also random, so any sperm can fuse with any egg. This is why brothers and sisters are not identical to each other or to either parent.

How does natural selection lead to evolution?

Natural selection leads to evolution because individuals in a population show genetic variation and compete for resources. Those with characteristics best suited to the environment are more likely to survive and reproduce, passing on their alleles. Over many generations, the proportion of the population with the advantageous alleles increases, so inherited characteristics change.

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