🎓 Prepared by students from Boğaziçi University

What is Genetic Variation in Populations?

Genetic variation is the diversity of alleles and genotypes among individuals in a population — the raw material evolution acts on. Without it, populations cannot adapt to changing environments, resist new diseases, or evolve over time.

Short answer

Genetic variation refers to differences in DNA sequences among individuals in a population, arising mainly from mutation, recombination (crossing over), independent assortment, and gene flow.

Sources of Genetic Variation
  1. 1
    Mutation
    Random changes in DNA sequence create entirely new alleles — the ultimate source of all genetic variation.
  2. 2
    Recombination (Crossing Over)
    Homologous chromosomes exchange segments during meiosis, creating new combinations of existing alleles.
  3. 3
    Independent Assortment
    Chromosome pairs separate randomly into gametes during meiosis, shuffling allele combinations.
  4. 4
    Gene Flow (Migration)
    Individuals moving between populations introduce new alleles, increasing variation within a population.
01

Try it: interactive calculator

Expected heterozygosity (H)
0.62
= 1-(0.5*0.5+0.3*0.3+0.2*0.2)
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Step-by-step worked examples

A locus has two alleles: A (frequency 0.6) and a (frequency 0.4). Calculate the expected heterozygosity.

H = 2pq = 2 × 0.6 × 0.4
H = 0.48 (48% of individuals are expected to be heterozygous)

In a population of 500 individuals, 50 new mutations arise at a locus in one generation. Calculate the per-individual mutation rate.

Mutation rate μ = new mutations ÷ population size
μ = 50 ÷ 500 = 0.1 mutations per individual per generation

Two populations exchange migrants: 20 individuals move into a population of 200 each generation. Calculate the migration rate (m).

m = migrants ÷ total population
m = 20 ÷ 200 = 0.10 (10% migration rate)
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Flashcards

04

Quick quiz

Q1.Which of the following is a source of genetic variation?

Correct answer: A. Mutation creates new alleles; drift, selection, and bottlenecks tend to reduce existing variation.

Q2.What happens to genetic variation during a population bottleneck?

Correct answer: B. A bottleneck drastically reduces population size and, with it, allele diversity.

Q3.Crossing over during meiosis increases genetic variation by...

Correct answer: B. Crossing over exchanges chromosome segments, producing new allele combinations.

Q4.A locus has allele frequencies p = 0.7 and q = 0.3. What is the expected heterozygosity (2pq)?

Correct answer: B. 2pq = 2 × 0.7 × 0.3 = 0.42.
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Common mistakes

Thinking genetic variation and genetic drift are the same thing.Correct: Genetic variation is diversity itself; genetic drift is a process that changes (usually reduces) that diversity by chance.

Believing mutation is always harmful.Correct: Most mutations are neutral, some are harmful, and a few are beneficial — mutation is the ultimate source of all new genetic variation.

Assuming small populations have the same genetic variation as large ones.Correct: Small populations lose genetic variation faster due to genetic drift and inbreeding.

Believing gene flow always increases variation within a population.Correct: Gene flow increases variation within a population but tends to decrease differences between populations.

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FAQ

What is genetic variation?

It is the diversity of alleles and genotypes among individuals in a population, arising from mutation, recombination, and gene flow.

What causes genetic variation in populations?

Mainly mutation, recombination during meiosis (crossing over and independent assortment), and gene flow between populations.

Why is genetic variation important for evolution?

It is the raw material natural selection acts on — without it, populations cannot adapt to a changing environment.

How is genetic variation measured?

A common measure is expected heterozygosity (H = 1 − Σpᵢ²), the probability two randomly chosen alleles at a locus differ.

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