3.1.2
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.
1Cell Biology
1.1Introduction to Cells
1.2Ultrastructure of Cells
1.3Membrane Structure
1.4Membrane Transport
1.5The Origin of Cells
2Molecular Biology
2.1Water
2.2Carbohydrates & Lipids
2.3Proteins
2.4Enzymes
2.5Structure of DNA & RNA
2.6DNA Replication, Transcription & Translation
2.7Cell Respiration
2.8Photosynthesis
3Genetics
3.1Genes
3.2Chromosomes
3.3Meiosis
3.4Inheritance
3.5Genetic Modification & Biotechnology
4Ecology
4.1Species, Communities & Ecosytems
4.3Carbon Cycle
5Evolution & Biodiversity
5.1Evidence for Evolution
5.2Natural Selection
5.3Classification of Biodiversity
6Human Physiology
6.1Digestion & Absorption
6.2The Blood System
6.3Defence Against Infectious Disease
6.5Neurons & Synapses
7AHL: Nucleic Acids
7.1DNA Structure & Replication
7.2Transcription & Gene Expression
8AHL: Metabolism, Cell Respiration & Photosynthesis
8.1Metabolism
8.2Cell Respiration
9AHL: Plant Biology
9.1Transport in the Xylem of Plants
9.2Transport in the Phloem of Plants
9.3Growth in Plants
10AHL: Genetics & Evolution
10.1Meiosis
10.2Inheritance
10.2.1Linked Genes
10.2.2Sex-Linked Genes
10.2.3Non-Nuclear Inheritance
10.2.4Chi-Squared Test
10.2.5End of Topic Quiz - Inheritance
10.2.6IB Multiple Choice - Non-Mendelian Genetics
10.2.7Introduction to Non-Mendelian Inheritance
10.2.8Extended Response - Inheritance
10.2.9Grade 4-5 (Scientific Practices) - Inheritance
11AHL: Animal Physiology
11.1Antibody Production & Vaccination
11.3The Kidney & Osmoregulation
Jump to other topics
1Cell Biology
1.1Introduction to Cells
1.2Ultrastructure of Cells
1.3Membrane Structure
1.4Membrane Transport
1.5The Origin of Cells
2Molecular Biology
2.1Water
2.2Carbohydrates & Lipids
2.3Proteins
2.4Enzymes
2.5Structure of DNA & RNA
2.6DNA Replication, Transcription & Translation
2.7Cell Respiration
2.8Photosynthesis
3Genetics
3.1Genes
3.2Chromosomes
3.3Meiosis
3.4Inheritance
3.5Genetic Modification & Biotechnology
4Ecology
4.1Species, Communities & Ecosytems
4.3Carbon Cycle
5Evolution & Biodiversity
5.1Evidence for Evolution
5.2Natural Selection
5.3Classification of Biodiversity
6Human Physiology
6.1Digestion & Absorption
6.2The Blood System
6.3Defence Against Infectious Disease
6.5Neurons & Synapses
7AHL: Nucleic Acids
7.1DNA Structure & Replication
7.2Transcription & Gene Expression
8AHL: Metabolism, Cell Respiration & Photosynthesis
8.1Metabolism
8.2Cell Respiration
9AHL: Plant Biology
9.1Transport in the Xylem of Plants
9.2Transport in the Phloem of Plants
9.3Growth in Plants
10AHL: Genetics & Evolution
10.1Meiosis
10.2Inheritance
10.2.1Linked Genes
10.2.2Sex-Linked Genes
10.2.3Non-Nuclear Inheritance
10.2.4Chi-Squared Test
10.2.5End of Topic Quiz - Inheritance
10.2.6IB Multiple Choice - Non-Mendelian Genetics
10.2.7Introduction to Non-Mendelian Inheritance
10.2.8Extended Response - Inheritance
10.2.9Grade 4-5 (Scientific Practices) - Inheritance
11AHL: Animal Physiology
11.1Antibody Production & Vaccination
11.3The Kidney & Osmoregulation
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