8.1.1
Mutations
Types of Mutation
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.
- E.g. ATCGTT → ATCCGTT
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.
- E.g. ATCGTT → ATCTT
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.
- E.g. ATCGTT → ACCGTT
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).
- E.g. ATCGTT → TTGCTA
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.
- E.g. ATCGTT → ATATCGTT
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.
1Biological Molecules
1.1Monomers & Polymers
1.2Carbohydrates
1.3Lipids
1.4Proteins
1.4.1The Peptide Chain
1.4.2Investigating Proteins
1.4.3Primary & Secondary Protein Structure
1.4.4Tertiary & Quaternary Protein Structure
1.4.5Enzymes
1.4.6Factors Affecting Enzyme Activity
1.4.7Enzyme-Controlled Reactions
1.4.8End of Topic Test - Lipids & Proteins
1.4.9A-A* (AO3/4) - Enzymes
1.4.10A-A* (AO3/4) - Proteins
1.5Nucleic Acids
1.6ATP
1.7Water
1.8Inorganic Ions
2Cells
2.1Cell Structure
2.2Mitosis & Cancer
2.3Transport Across Cell Membrane
2.4Cell Recognition & the Immune System
3Substance Exchange
3.1Surface Area to Volume Ratio
3.2Gas Exchange
3.3Digestion & Absorption
4Genetic Information & Variation
4.1DNA, Genes & Chromosomes
4.2DNA & Protein Synthesis
4.3Mutations & Meiosis
4.4Genetic Diversity & Adaptation
4.5Species & Taxonomy
4.6Biodiversity Within a Community
4.7Investigating Diversity
5Energy Transfers (A2 only)
5.1Photosynthesis
5.1.1Overview of Photosynthesis
5.1.2Photoionisation of Chlorophyll
5.1.3Production of ATP & Reduced NADP
5.1.4Cyclic Photophosphorylation
5.1.5Light-Independent Reaction
5.1.6A-A* (AO3/4) - Photosynthesis Reactions
5.1.7Limiting Factors
5.1.8Photosynthesis Experiments
5.1.9End of Topic Test - Photosynthesis
5.1.10A-A* (AO3/4) - Photosynthesis
5.2Respiration
5.3Energy & Ecosystems
6Responding to Change (A2 only)
6.1Nervous Communication
6.2Nervous Coordination
6.3Muscle Contraction
6.4Homeostasis
6.4.1Overview of Homeostasis
6.4.2Blood Glucose Concentration
6.4.3Controlling Blood Glucose Concentration
6.4.4End of Topic Test - Blood Glucose
6.4.5Primary & Secondary Messengers
6.4.6Diabetes Mellitus
6.4.7Measuring Glucose Concentration
6.4.8Osmoregulation
6.4.9Controlling Blood Water Potential
6.4.10ADH
6.4.11End of Topic Test - Diabetes & Osmoregulation
6.4.12A-A* (AO3/4) - Homeostasis
7Genetics & Ecosystems (A2 only)
7.1Genetics
7.2Populations
7.3Evolution
7.3.1Variation
7.3.2Natural Selection & Evolution
7.3.3End of Topic Test - Populations & Evolution
7.3.4Types of Selection
7.3.5Types of Selection Summary
7.3.6Overview of Speciation
7.3.7Causes of Speciation
7.3.8Diversity
7.3.9End of Topic Test - Selection & Speciation
7.3.10A-A* (AO3/4) - Populations & Evolution
8The Control of Gene Expression (A2 only)
8.2Gene Expression
8.2.1Stem Cells
8.2.2Stem Cells in Disease
8.2.3End of Topic Test - Mutation & Gene Epression
8.2.4A-A* (AO3/4) - Mutation & Stem Cells
8.2.5Regulating Transcription
8.2.6Epigenetics
8.2.7Epigenetics & Disease
8.2.8Regulating Translation
8.2.9Experimental Data
8.2.10End of Topic Test - Transcription & Translation
8.2.11Tumours
8.2.12Correlations & Causes
8.2.13Prevention & Treatment
8.2.14End of Topic Test - Cancer
8.2.15A-A* (AO3/4) - Gene Expression & Cancer
8.3Genome Projects
Jump to other topics
1Biological Molecules
1.1Monomers & Polymers
1.2Carbohydrates
1.3Lipids
1.4Proteins
1.4.1The Peptide Chain
1.4.2Investigating Proteins
1.4.3Primary & Secondary Protein Structure
1.4.4Tertiary & Quaternary Protein Structure
1.4.5Enzymes
1.4.6Factors Affecting Enzyme Activity
1.4.7Enzyme-Controlled Reactions
1.4.8End of Topic Test - Lipids & Proteins
1.4.9A-A* (AO3/4) - Enzymes
1.4.10A-A* (AO3/4) - Proteins
1.5Nucleic Acids
1.6ATP
1.7Water
1.8Inorganic Ions
2Cells
2.1Cell Structure
2.2Mitosis & Cancer
2.3Transport Across Cell Membrane
2.4Cell Recognition & the Immune System
3Substance Exchange
3.1Surface Area to Volume Ratio
3.2Gas Exchange
3.3Digestion & Absorption
4Genetic Information & Variation
4.1DNA, Genes & Chromosomes
4.2DNA & Protein Synthesis
4.3Mutations & Meiosis
4.4Genetic Diversity & Adaptation
4.5Species & Taxonomy
4.6Biodiversity Within a Community
4.7Investigating Diversity
5Energy Transfers (A2 only)
5.1Photosynthesis
5.1.1Overview of Photosynthesis
5.1.2Photoionisation of Chlorophyll
5.1.3Production of ATP & Reduced NADP
5.1.4Cyclic Photophosphorylation
5.1.5Light-Independent Reaction
5.1.6A-A* (AO3/4) - Photosynthesis Reactions
5.1.7Limiting Factors
5.1.8Photosynthesis Experiments
5.1.9End of Topic Test - Photosynthesis
5.1.10A-A* (AO3/4) - Photosynthesis
5.2Respiration
5.3Energy & Ecosystems
6Responding to Change (A2 only)
6.1Nervous Communication
6.2Nervous Coordination
6.3Muscle Contraction
6.4Homeostasis
6.4.1Overview of Homeostasis
6.4.2Blood Glucose Concentration
6.4.3Controlling Blood Glucose Concentration
6.4.4End of Topic Test - Blood Glucose
6.4.5Primary & Secondary Messengers
6.4.6Diabetes Mellitus
6.4.7Measuring Glucose Concentration
6.4.8Osmoregulation
6.4.9Controlling Blood Water Potential
6.4.10ADH
6.4.11End of Topic Test - Diabetes & Osmoregulation
6.4.12A-A* (AO3/4) - Homeostasis
7Genetics & Ecosystems (A2 only)
7.1Genetics
7.2Populations
7.3Evolution
7.3.1Variation
7.3.2Natural Selection & Evolution
7.3.3End of Topic Test - Populations & Evolution
7.3.4Types of Selection
7.3.5Types of Selection Summary
7.3.6Overview of Speciation
7.3.7Causes of Speciation
7.3.8Diversity
7.3.9End of Topic Test - Selection & Speciation
7.3.10A-A* (AO3/4) - Populations & Evolution
8The Control of Gene Expression (A2 only)
8.2Gene Expression
8.2.1Stem Cells
8.2.2Stem Cells in Disease
8.2.3End of Topic Test - Mutation & Gene Epression
8.2.4A-A* (AO3/4) - Mutation & Stem Cells
8.2.5Regulating Transcription
8.2.6Epigenetics
8.2.7Epigenetics & Disease
8.2.8Regulating Translation
8.2.9Experimental Data
8.2.10End of Topic Test - Transcription & Translation
8.2.11Tumours
8.2.12Correlations & Causes
8.2.13Prevention & Treatment
8.2.14End of Topic Test - Cancer
8.2.15A-A* (AO3/4) - Gene Expression & Cancer
8.3Genome Projects
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