8.1.1

Mutations

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Types of Mutation

Mutations are changes in the base sequence of DNA. Mutations can be caused by errors in DNA replication. The different types of mutation are:

Addition

Addition

  • Addition mutations are where one or more bases are added to the DNA sequence.
    • E.g. ATCGTT → ATCCGTT
      • In this example, a C is added in the middle of the DNA sequence.
Deletion

Deletion

  • Deletion mutations are where one or more bases are removed from the DNA sequence.
    • E.g. ATCGTT → ATCTT
      • In this example, the G is deleted from the middle of the DNA sequence.
Substitution

Substitution

  • Substitution mutations are where one or more bases are changed in the DNA sequence.
    • E.g. ATCGTT → ACCGTT
      • In this example, the first T is substituted for a C.
Inversion

Inversion

  • Inversion mutations are where the order of bases in the DNA sequence are inverted (reversed).
    • E.g. ATCGTT → TTGCTA
      • In this example, the order is reversed (i.e. the A moves from position 1 to position 6).
Duplication

Duplication

  • Duplication mutations are where one or more bases are duplicated (repeated) in the DNA sequence.
    • E.g. ATCGTT → ATATCGTT
      • In this example, the A and T found in positions 1 and 2 are duplicated.
Translocation

Translocation

  • Translocation mutations are where a section of the DNA sequence is moved to another section of the DNA sequence.
  • Translocation can be within and across chromosomes.
Jump to other topics
1

Biological Molecules

1.1

Monomers & Polymers

1.1.1Monomers & Polymers1.1.2Condensation & Hydrolysis Reactions
1.2

Carbohydrates

1.2.1Structure of Carbohydrates1.2.2Types of Polysaccharides1.2.3End of Topic Test - Monomers, Polymers and Carbs1.2.4Exam-Style Question - Carbohydrates1.2.5A-A* (AO3/4) - Carbohydrates
1.3

Lipids

1.3.1Triglycerides & Phospholipids1.3.2Types of Fatty Acids1.3.3Testing for Lipids1.3.4Exam-Style Question - Fats1.3.5A-A* (AO3/4) - Lipids
1.4

Proteins

1.4.1The Peptide Chain1.4.2Investigating Proteins1.4.3Primary & Secondary Protein Structure1.4.4Tertiary & Quaternary Protein Structure1.4.5Enzymes1.4.6Factors Affecting Enzyme Activity1.4.7Enzyme-Controlled Reactions1.4.8End of Topic Test - Lipids & Proteins1.4.9A-A* (AO3/4) - Enzymes1.4.10A-A* (AO3/4) - Proteins1.4.11Diagnostic Misconceptions - Enzyme Inhibitors
1.5

Nucleic Acids

1.5.1DNA & RNA1.5.2Nucleotides1.5.3Polynucleotides1.5.4DNA Replication1.5.5Exam-Style Question - Nucleic Acids1.5.6A-A* (AO3/4) - Nucleic Acids
1.6

ATP

1.6.1Structure of ATP1.6.2Hydrolysis of ATP1.6.3Resynthesis of ATP1.6.4End of Topic Test - Nucleic Acids & ATP
1.7

Water

1.7.1Importance of Water1.7.2Structure of Water1.7.3Properties of Water1.7.4A-A* (AO3/4) - Water
1.8

Inorganic Ions

1.8.1Inorganic Ions1.8.2End of Topic Test - Water & Inorganic Ions
2

Cells

2.1

Cell Structure

2.1.1Introduction to Cells2.1.2Eukaryotic Cells & Organelles2.1.3Eukaryotic Cells & Organelles 22.1.4Prokaryotes2.1.5A-A* (AO3/4) - Organelles2.1.6Methods of Studying Cells2.1.7Microscopes2.1.8End of Topic Test - Cell Structure2.1.9Exam-Style Question - Cells2.1.10A-A* (AO3/4) - Cells
2.2

Mitosis & Cancer

2.2.1Mitosis2.2.2Stages of Mitosis2.2.3Investigating Mitosis2.2.4Cancer2.2.5A-A* (AO3/4) - The Cell Cycle
2.3

Transport Across Cell Membrane

2.3.1Cell Membrane Structure2.3.2A-A* (AO3/4) - Membrane Structure2.3.3Diffusion2.3.4Osmosis2.3.5Active Transport2.3.6End of Topic Test - Mitosis, Cancer & Transport2.3.7Exam-Style Question - Membranes2.3.8A-A* (AO3/4) - Membranes & Transport2.3.9A-A*- Mitosis, Cancer & Transport
2.4

Cell Recognition & the Immune System

2.4.1Immune System2.4.2Phagocytosis2.4.3T Lymphocytes2.4.4B Lymphocytes2.4.5Antibodies2.4.6Primary & Secondary Response2.4.7Vaccines2.4.8HIV2.4.9Ethical Issues2.4.10End of Topic Test - Immune System2.4.11Exam-Style Question - Immune System2.4.12A-A* (AO3/4) - Immune System2.4.13Diagnostic Misconceptions - Humoral vs Cellular
3

Substance Exchange

3.1

Surface Area to Volume Ratio

3.1.1Size & Surface Area3.1.2A-A* (AO3/4) - Cell Size
3.2

Gas Exchange

3.2.1Single-Celled Organisms3.2.2Multicellular Organisms3.2.3Control of Water Loss3.2.4Human Gas Exchange3.2.5Ventilation3.2.6Dissection3.2.7Measuring Gas Exchange3.2.8Lung Disease3.2.9Lung Disease Data3.2.10End of Topic Test - Gas Exchange3.2.11A-A* (AO3/4) - Gas Exchange
3.3

Digestion & Absorption

3.3.1Overview of Digestion3.3.2Digestion in Mammals3.3.3Absorption3.3.4End of Topic Test - Substance Exchange & Digestion3.3.5A-A* (AO3/4) - Substance Ex & Digestion
3.4

Mass Transport

3.4.1Haemoglobin3.4.2Oxygen Transport3.4.3The Circulatory System3.4.4The Heart3.4.5Blood Vessels3.4.6Cardiovascular Disease3.4.7Heart Dissection3.4.8Xylem3.4.9Phloem3.4.10Investigating Plant Transport3.4.11End of Topic Test - Mass Transport3.4.12A-A* (AO3/4) - Mass Transport3.4.13Diagnostic Misconceptions - Concentration Gradient3.4.14Diagnostic Misconceptions - Cardiac Cycle3.4.15Diagnostic Misconceptions - Carrying Capacity3.4.16Diagnostic Misconceptions - Translocation
4

Genetic Information & Variation

4.1

DNA, Genes & Chromosomes

4.1.1DNA4.1.2Genes4.1.3Non-Coding Genes4.1.4The Genetic Code4.1.5A-A* (AO3/4) - DNA
4.2

DNA & Protein Synthesis

4.2.1Protein Synthesis4.2.2Transcription & Translation4.2.3End of Topic Test - DNA, Genes & Protein Synthesis4.2.4Exam-Style Question - Protein Synthesis4.2.5A-A* (AO3/4) - Coronavirus Translation4.2.6A-A* (AO3/4) - Transcription4.2.7A-A* (AO3/4) - Translation
4.3

Mutations & Meiosis

4.3.1Mutations4.3.2Meiosis4.3.3A-A* (AO3/4) - Meiosis4.3.4Meiosis vs Mitosis4.3.5End of Topic Test - Mutations, Meiosis4.3.6A-A* (AO3/4) - DNA,Genes, CellDiv & ProtSynth4.3.7Diagnostic Misconceptions - Meiosis vs Mitosis
4.4

Genetic Diversity & Adaptation

4.4.1Genetic Diversity4.4.2Natural Selection4.4.3A-A* (AO3/4) - Natural Selection4.4.4Adaptations4.4.5Investigating Natural Selection4.4.6End of Topic Test - Genetic Diversity & Adaptation4.4.7A-A* (AO3/4) - Genetic Diversity & Adaptation
4.5

Species & Taxonomy

4.5.1Courtship Behaviour4.5.2Phylogeny4.5.3Classification4.5.4DNA Technology4.5.5A-A* (AO3/4) - Species & Taxonomy
4.6

Biodiversity Within a Community

4.6.1Biodiversity4.6.2Index of diversity4.6.3Agriculture4.6.4End of Topic Test - Species,Taxonomy& Biodiversity4.6.5A-A* (AO3/4) - Species,Taxon&Biodiversity
4.7

Investigating Diversity

4.7.1Genetic Diversity4.7.2Quantitative Investigation
5

Energy Transfers (A2 only)

5.1

Photosynthesis

5.1.1Overview of Photosynthesis5.1.2Photoionisation of Chlorophyll5.1.3Production of ATP & Reduced NADP5.1.4Cyclic Photophosphorylation5.1.5Light-Independent Reaction5.1.6A-A* (AO3/4) - Photosynthesis Reactions5.1.7Limiting Factors5.1.8Photosynthesis Experiments5.1.9End of Topic Test - Photosynthesis5.1.10A-A* (AO3/4) - Photosynthesis
5.2

Respiration

5.2.1Overview of Respiration5.2.2Anaerobic Respiration5.2.3A-A* (AO3/4) - Anaerobic Respiration5.2.4The Link Reaction5.2.5The Krebs Cycle5.2.6Oxidative Phosphorylation5.2.7Respiration Experiments5.2.8End of Topic Test - Respiration5.2.9A-A* (AO3/4) - Respiration5.2.10Diagnostic Misconceptions - Aerobic vs Anaerobic
5.3

Energy & Ecosystems

5.3.1Biomass5.3.2Production & Productivity5.3.3Agricultural Practices
5.4

Nutrient Cycles

5.4.1Nitrogen Cycle5.4.2Phosphorous Cycle5.4.3Fertilisers & Eutrophication5.4.4End of Topic Test - Nutrient Cycles5.4.5A-A* (AO3/4) - Energy,Ecosystems&NutrientCycles
6

Responding to Change (A2 only)

6.1

Nervous Communication

6.1.1Survival6.1.2Plant Responses6.1.3Animal Responses6.1.4Reflexes6.1.5End of Topic Test - Reflexes, Responses & Survival6.1.6Receptors6.1.7The Human Retina6.1.8Control of Heart Rate6.1.9End of Topic Test - Receptors, Retina & Heart Rate
6.2

Nervous Coordination

6.2.1Neurones6.2.2Action Potentials6.2.3Speed of Transmission6.2.4End of Topic Test - Neurones & Action Potentials6.2.5Synapses6.2.6Types of Synapse6.2.7Medical Application6.2.8End of Topic Test - Synapses6.2.9A-A* (AO3/4) - Nervous Comm&Coord
6.3

Muscle Contraction

6.3.1Skeletal Muscle6.3.2Sliding Filament Theory6.3.3Contraction6.3.4Slow & Fast Twitch Fibres6.3.5End of Topic Test - Muscles6.3.6A-A* (AO3/4) - Muscle Contraction
6.4

Homeostasis

6.4.1Overview of Homeostasis6.4.2Blood Glucose Concentration6.4.3Controlling Blood Glucose Concentration6.4.4End of Topic Test - Blood Glucose6.4.5Primary & Secondary Messengers6.4.6Diabetes Mellitus6.4.7Measuring Glucose Concentration6.4.8Osmoregulation6.4.9Controlling Blood Water Potential6.4.10ADH6.4.11End of Topic Test - Diabetes & Osmoregulation6.4.12A-A* (AO3/4) - Homeostasis6.4.13Diagnostic Misconceptions - Effect of ADH
7

Genetics & Ecosystems (A2 only)

7.1

Genetics

7.1.1Key Terms in Genetics7.1.2Inheritance7.1.3Linkage7.1.4Multiple Alleles & Epistasis7.1.5Chi-Squared Test7.1.6End of Topic Test - Genetics7.1.7A-A* (AO3/4) - Genetics7.1.8Diagnostic Misconceptions - Dihybrid Inheritance7.1.9Diagnostic Misconceptions - Sex Linkage
7.2

Populations

7.2.1Populations7.2.2Hardy-Weinberg Principle
7.3

Evolution

7.3.1Variation7.3.2Natural Selection & Evolution7.3.3End of Topic Test - Populations & Evolution7.3.4Types of Selection7.3.5Types of Selection Summary7.3.6Overview of Speciation7.3.7Causes of Speciation7.3.8Diversity7.3.9End of Topic Test - Selection & Speciation7.3.10A-A* (AO3/4) - Populations & Evolution7.3.11Diagnostic Misconceptions - Types of Speciation
7.4

Populations in Ecosystems

7.4.1Overview of Ecosystems7.4.2Niche7.4.3Population Size7.4.4Investigating Population Size7.4.5End of Topic Test - Ecosystems & Population Size7.4.6Succession7.4.7Conservation7.4.8End of Topic Test - Succession & Conservation7.4.9A-A* (AO3/4) - Ecosystems
8

The Control of Gene Expression (A2 only)

8.1

Mutation

8.1.1Mutations8.1.2Effects of Mutations8.1.3Causes of Mutations8.1.4Diagnostic Misconceptions - Gene Expression
8.2

Gene Expression

8.2.1Stem Cells8.2.2Stem Cells in Disease8.2.3End of Topic Test - Mutation & Gene Epression8.2.4A-A* (AO3/4) - Mutation & Stem Cells8.2.5Regulating Transcription8.2.6Epigenetics8.2.7Epigenetics & Disease8.2.8Regulating Translation8.2.9Experimental Data8.2.10End of Topic Test - Transcription & Translation8.2.11Tumours8.2.12Correlations & Causes8.2.13Prevention & Treatment8.2.14End of Topic Test - Cancer8.2.15A-A* (AO3/4) - Gene Expression & Cancer
8.3

Genome Projects

8.3.1Using Genome Projects
8.4

Gene Technology

8.4.1Recombinant DNA8.4.2Producing Fragments8.4.3Amplification8.4.4End of Topic Test - Genome Project & Amplification8.4.5Using Recombinant DNA8.4.6Medical Diagnosis8.4.7Genetic Fingerprinting8.4.8End of Topic Test - Gene Technologies8.4.9A-A* (AO3/4) - Gene Technology
9

Mathematical Skills

9.1

Mathematical Skills

9.1.1Diagnostic Misconceptions - Converting Units9.1.2Diagnostic Misconceptions - Correct Hypothesis9.1.3Diagnostic Misconceptions - Interpret Hypothesis9.1.4Diagnostic Misconceptions - Calculate Uncertainty

Practice questions on Mutations

Can you answer these? Test yourself with free interactive practice on Seneca — used by over 10 million students.

  1. 1
    Which of the following mutations is a substitution mutation?Multiple choice
  2. 2
    Which of these is a duplication mutation?Multiple choice
  3. 3
    Which of the of the following statements about mutations are true?True / false
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A-A* (AO3/4) - Ecosystems

Effects of Mutations