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5.2.1 Genetic variation within a population

Variation within populations

Definition

Genetic variation

Genetic variation is the difference in DNA sequences between individuals of the same species.

Definition

Population

A population is all the organisms of one species living in the same area at the same time.

Definition

Allele

An allele is an alternative version of a gene.

  1. Individuals of the same species share many features, but a population usually contains a wide range of inherited differences.
  2. Members of a population usually have the same kinds of genes, while the alleles they carry and the combinations of those alleles can differ.
  3. A gene can have several alleles across a population, even though a diploid individual normally carries only two copies of that gene, one inherited from each parent.
  4. Genetic variation therefore includes both differences between DNA base sequences and differences in the combinations of alleles present in individuals.
  5. Two organisms can look very similar while differing at many positions in their DNA, so visible appearance alone underestimates genetic variation.
  6. The illustration shows different bases at the same position in a DNA sequence, which is one possible form of genetic variation.
Example
  • Three individuals of the same species have corresponding DNA fragments written as ACGTTA\mathrm{ACGTTA}ACGTTA, ACGCTA\mathrm{ACGCTA}ACGCTA and ACGTTA\mathrm{ACGTTA}ACGTTA.
  • Comparing the same position in each fragment shows that the second individual has C\mathrm{C}C where the other two have T\mathrm{T}T.
  • This difference is evidence of genetic variation, but it does not by itself show whether any visible characteristic is affected.
  • The matching short fragments in the first and third individuals do not show that their entire genomes are identical.

Sources of genetic differences

Definition

Mutation

A mutation is a change in the base sequence of DNA.

  1. Mutations are the original source of new genetic variants, including new alleles.
  2. They occur without being directed towards a particular useful outcome, so an organism does not produce a specific mutation because it needs that characteristic.
  3. A mutation can be passed to offspring only if the altered genetic material is included in the cells that produce the offspring.
  4. In sexually reproducing animals, a mutation confined to an ordinary body cell is generally not passed to the next generation.
  5. Sexual reproduction brings existing alleles together in new combinations, which explains why offspring usually differ from both their parents and their siblings.
  6. Meiosis produces genetically different gametes, and the random meeting of gametes during fertilisation adds further combinations.
  7. The chromosome combinations in the diagram illustrate this mixing of inherited material; the mixing rearranges existing alleles rather than creating new versions of them.
Common Mistake

Mutation can create a new allele, whereas meiosis and fertilisation produce new combinations of alleles.

Genetic and visible variation

  1. Genotype is the combination of alleles an organism has.
  2. Phenotype is the observable characteristics of an organism, produced by its genotype and its interactions with the environment.
  3. A difference in phenotype can result from genetic differences, environmental differences or both, so visible variation is not automatically evidence of different alleles.
  4. For example, a plant may be short because it carries alleles associated with short growth, because it receives too few mineral ions, or because both factors affect it.
  5. Most genetic variants do not change the phenotype, while some alter a characteristic and a small number can have a large effect.
  6. A variant with no obvious effect is still a DNA difference and therefore still contributes to genetic variation.
  7. When comparing individuals, use evidence about their inherited material to distinguish genetic variation from changes caused only by their surroundings.
Exam technique
  • Explain genetic differences using different alleles or different DNA sequences, rather than saying that members of a species simply have completely different genes.
  • If the evidence gives only a visible characteristic, consider whether the environment could also explain the difference.
Self review
  • What does genetic variation mean?
  • How can a population contain more alleles of a gene than one diploid individual carries?
  • Which process creates new alleles?
  • How does sexual reproduction produce new allele combinations?
  • Why does a difference in appearance not always demonstrate genetic variation?
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Three aligned DNA fragments showing a different base at the same position

Genetic variation is the difference in DNA sequences between individuals of the same species. A population is all the organisms of one species living in the same area at the same time.

Members of a population usually have the same kinds of genes, but they may carry different alleles. An allele is an alternative version of a gene.

For example, the DNA fragments ACGTTA\mathrm{ACGTTA}ACGTTA, ACGCTA\mathrm{ACGCTA}ACGCTA and ACGTTA\mathrm{ACGTTA}ACGTTA differ at the fourth base. This is evidence of genetic variation, even though the first and third short fragments match.

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Genetic variation is the difference in [     ] between individuals of the same species.

5.2.1 Genetic variation within a population Revision Guide

  1. GCSE
  2. /Biology
  3. /5.2.1 Genetic variation within a population

Revision notes for OCR GCSE Biology 5.2.1 Genetic variation within a population: explanations and worked examples.

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