16.2.6
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 Structure
1.1Cell Structure
1.1.1Studying Cells - Microscopes
1.1.2Introduction to Eukaryotic & Prokaryotic Cells
1.1.3Ultrastructure of Eukaryotic Cells
1.1.4Ultrastructure of Eukaryotic Cells 2
1.1.5Ultrastructure of Eukaryotic Cells 3
1.1.6Prokaryotic Cells
1.1.7Viruses
1.1.8End of Topic Test - Cell Structure
1.1.9Exam-Style Question - Microscopes
1.1.10A-A* (AO2/3) - Cell Structure
2Biological Molecules
2.1Testing for Biological Modules
2.2Carbohydrates & Lipids
2.3Proteins
3Enzymes
4Cell Membranes & Transport
4.1Biological Membranes
5The Mitotic Cell Cycle
6Nucleic Acids & Protein Synthesis
6.1Nucleic Acids
7Transport in Plants
8Transport in Mammals
8.1Circulatory System
8.2Transport of Oxygen & Carbon Dioxide
9Gas Exchange
9.1Gas Exchange System
10Infectious Diseases
10.1Infectious Diseases
10.2Antibiotics
11Immunity
12Energy & Respiration (A2 Only)
13Photosynthesis (A2 Only)
14Homeostasis (A2 Only)
14.1Homeostasis
14.2The Kidney
14.3Cell Signalling
14.4Blood Glucose Concentration
14.5Homeostasis in Plants
15Control & Coordination (A2 Only)
15.1Control & Coordination in Mammals
15.1.1Neurones
15.1.2Receptors
15.1.3Taste
15.1.4Reflexes
15.1.5Action Potentials
15.1.6Saltatory Conduction
15.1.7Synapses
15.1.8Cholinergic Synnapses
15.1.9Neuromuscular Junction
15.1.10Skeletal Muscle
15.1.11Sliding Filament Theory Contraction
15.1.12Sliding Filament Theory Contraction 2
15.1.13Menstruation
15.1.14Contraceptive Pill
15.2Control & Co-Ordination in Plants
16Inherited Change (A2 Only)
16.1Passage of Information to Offspring
16.2Genes & Phenotype
17Selection & Evolution (A2 Only)
17.2Natural & Artificial Selection
18Classification & Conservation (A2 Only)
18.1Biodiversity
18.2Classification
19Genetic Technology (A2 Only)
19.1Manipulating Genomes
19.2Genetic Technology Applied to Medicine
19.3Genetically Modified Organisms in Agriculture
Jump to other topics
1Cell Structure
1.1Cell Structure
1.1.1Studying Cells - Microscopes
1.1.2Introduction to Eukaryotic & Prokaryotic Cells
1.1.3Ultrastructure of Eukaryotic Cells
1.1.4Ultrastructure of Eukaryotic Cells 2
1.1.5Ultrastructure of Eukaryotic Cells 3
1.1.6Prokaryotic Cells
1.1.7Viruses
1.1.8End of Topic Test - Cell Structure
1.1.9Exam-Style Question - Microscopes
1.1.10A-A* (AO2/3) - Cell Structure
2Biological Molecules
2.1Testing for Biological Modules
2.2Carbohydrates & Lipids
2.3Proteins
3Enzymes
4Cell Membranes & Transport
4.1Biological Membranes
5The Mitotic Cell Cycle
6Nucleic Acids & Protein Synthesis
6.1Nucleic Acids
7Transport in Plants
8Transport in Mammals
8.1Circulatory System
8.2Transport of Oxygen & Carbon Dioxide
9Gas Exchange
9.1Gas Exchange System
10Infectious Diseases
10.1Infectious Diseases
10.2Antibiotics
11Immunity
12Energy & Respiration (A2 Only)
13Photosynthesis (A2 Only)
14Homeostasis (A2 Only)
14.1Homeostasis
14.2The Kidney
14.3Cell Signalling
14.4Blood Glucose Concentration
14.5Homeostasis in Plants
15Control & Coordination (A2 Only)
15.1Control & Coordination in Mammals
15.1.1Neurones
15.1.2Receptors
15.1.3Taste
15.1.4Reflexes
15.1.5Action Potentials
15.1.6Saltatory Conduction
15.1.7Synapses
15.1.8Cholinergic Synnapses
15.1.9Neuromuscular Junction
15.1.10Skeletal Muscle
15.1.11Sliding Filament Theory Contraction
15.1.12Sliding Filament Theory Contraction 2
15.1.13Menstruation
15.1.14Contraceptive Pill
15.2Control & Co-Ordination in Plants
16Inherited Change (A2 Only)
16.1Passage of Information to Offspring
16.2Genes & Phenotype
17Selection & Evolution (A2 Only)
17.2Natural & Artificial Selection
18Classification & Conservation (A2 Only)
18.1Biodiversity
18.2Classification
19Genetic Technology (A2 Only)
19.1Manipulating Genomes
19.2Genetic Technology Applied to Medicine
19.3Genetically Modified Organisms in Agriculture
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