13.3.2
Mutations
Mutations
Mutations
Mutations are changes to the base sequence in the DNA. Mutations can be caused by addition, deletion and substitution of bases.


Mutations
Mutations
- Mutations are changes to the DNA sequence.
- Mutations are almost always harmful because they interrupt the normal functioning of a protein.
- E.g. Cystic fibrosis is a genetic disorder caused by a mutation in the gene for a transmembrane protein.


Addition mutations
Addition mutations
- 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 mutations
Deletion mutations
- 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 mutations
Substitution mutations
- 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
Causes of Mutation
Causes of Mutation
Changes to the DNA sequence are known as gene mutations. Causes of mutation include:


DNA replication
DNA replication
- When DNA is replicated, the bases in the DNA sequence are read and copied.
- There can be errors in the replication process. These errors cause mutations.
- Mutations caused in DNA replication are spontaneous.


Mutagenic agents
Mutagenic agents
- Mutagenic agents can also increase the rate at which mutations occur.
- Mutagenic agents include:
- Chemicals (e.g. bromine and benzene).
- Exposure to ionising radiation and ultraviolet radiation.


Chromosome mutations
Chromosome mutations
- Chromosome mutations can also arise spontaneously during meiosis.
- Chromosome mutations can affect the number of chromosomes in a developing zygote. This is called aneuploidy.
- Meiosis is the production of haploid gametes. During meiosis, pairs of chromosomes are separated.
- Non-disjunction is when chromosome pairs do not separate properly.
1Unity & Diversity - Molecules
1.1Water
1.2DNA Structure & Replication
1.3Transcription & Gene Expression
2Unity & Diversity - Cells
2.1The Origin of Cells
2.2Introduction to Cells
2.3Ultrastructure of Cells
2.4Cell Division
2.5Structure of DNA & RNA
2.6DNA Replication, Transcription & Translation
2.7Cell Respiration
2.8Photosynthesis
2.9Viruses
3Unity & Diversity - Organisms
3.1Diversity of Organisms
3.2Evidence for Evolution
4Unity & Diversity - Ecosystems
4.1Classification
4.3Evolution & Speciation
4.3.1Evidence for Evolution - Fossils & DNA
4.3.2Evidence for Evolution - Anatomy & Geography
4.3.3IB Multiple Choice - Evidence for Evolution
4.3.4Extended Response - DNA & Evolution
4.3.5Populations
4.3.6Mutations, Genetic Drift, & Gene Flow
4.3.7Speciation
4.3.8Rate of Speciation
4.3.9Allopatric & Sympatric Speciation
4.4Conservation of Biodiversity
5Form & Function - Molecules
6Form & Function - Cells
6.1Membranes & Membrane Transport
6.2Organelles & Compartmentalization
6.3Cell Specialization
7Form & Function - Organisms
7.2Transport
7.3Muscle & Motility
8Form & Function - Ecosystems
8.1Species, Communities & Ecosytems
8.3Carbon Cycle
9Interaction & Interdependence - Molecules
9.1Enzymes
9.2Metabolism
9.3Cell Respiration
10Interaction & Interdependence - Cells
10.1Chemical Signalling
10.2Neural Signalling
10.3Adaptation to Environment
10.4Ecological Niches
11Interaction & Interdependence - Organisms
11.1Integration of Body Systems
12Interaction & Interdependence - Ecosystems
12.1Populations & Communities
12.2Transfers of Energy & Matter
13Continuity & Change - Molecules
13.1DNA Replication
13.2Protein Synthesis
14Continuity & Change - Cells
15Continuity & Change - Organisms
15.1Inheritance
15.1.1Non-Nuclear Inheritance
15.1.2Linked Genes
15.1.3IB Multiple Choice - Non-Mendelian Genetics
15.1.4Extended Response - Inheritance
15.1.5Introduction to Non-Mendelian Inheritance
15.1.6Chi-Squared Test
15.1.7End of Topic Quiz - Inheritance
15.1.8Sex-Linked Genes
15.1.9Grade 4-5 (Scientific Practices) - Inheritance
16Continuity & Change - Ecosystems
16.1Natural Selection
16.2Stability & Change
Jump to other topics
1Unity & Diversity - Molecules
1.1Water
1.2DNA Structure & Replication
1.3Transcription & Gene Expression
2Unity & Diversity - Cells
2.1The Origin of Cells
2.2Introduction to Cells
2.3Ultrastructure of Cells
2.4Cell Division
2.5Structure of DNA & RNA
2.6DNA Replication, Transcription & Translation
2.7Cell Respiration
2.8Photosynthesis
2.9Viruses
3Unity & Diversity - Organisms
3.1Diversity of Organisms
3.2Evidence for Evolution
4Unity & Diversity - Ecosystems
4.1Classification
4.3Evolution & Speciation
4.3.1Evidence for Evolution - Fossils & DNA
4.3.2Evidence for Evolution - Anatomy & Geography
4.3.3IB Multiple Choice - Evidence for Evolution
4.3.4Extended Response - DNA & Evolution
4.3.5Populations
4.3.6Mutations, Genetic Drift, & Gene Flow
4.3.7Speciation
4.3.8Rate of Speciation
4.3.9Allopatric & Sympatric Speciation
4.4Conservation of Biodiversity
5Form & Function - Molecules
6Form & Function - Cells
6.1Membranes & Membrane Transport
6.2Organelles & Compartmentalization
6.3Cell Specialization
7Form & Function - Organisms
7.2Transport
7.3Muscle & Motility
8Form & Function - Ecosystems
8.1Species, Communities & Ecosytems
8.3Carbon Cycle
9Interaction & Interdependence - Molecules
9.1Enzymes
9.2Metabolism
9.3Cell Respiration
10Interaction & Interdependence - Cells
10.1Chemical Signalling
10.2Neural Signalling
10.3Adaptation to Environment
10.4Ecological Niches
11Interaction & Interdependence - Organisms
11.1Integration of Body Systems
12Interaction & Interdependence - Ecosystems
12.1Populations & Communities
12.2Transfers of Energy & Matter
13Continuity & Change - Molecules
13.1DNA Replication
13.2Protein Synthesis
14Continuity & Change - Cells
15Continuity & Change - Organisms
15.1Inheritance
15.1.1Non-Nuclear Inheritance
15.1.2Linked Genes
15.1.3IB Multiple Choice - Non-Mendelian Genetics
15.1.4Extended Response - Inheritance
15.1.5Introduction to Non-Mendelian Inheritance
15.1.6Chi-Squared Test
15.1.7End of Topic Quiz - Inheritance
15.1.8Sex-Linked Genes
15.1.9Grade 4-5 (Scientific Practices) - Inheritance
16Continuity & Change - Ecosystems
16.1Natural Selection
16.2Stability & Change
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