Mutations

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

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 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 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.

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.

Causes of Mutation

Changes to the DNA sequence are known as gene mutations. Causes of mutation include:

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 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 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.

1Biological Molecules

1.1Monomers & Polymers

1.1.1Monomers & Polymers

1.1.2Condensation & Hydrolysis Reactions

1.2Carbohydrates

1.2.1Structure of Carbohydrates

1.2.2Types of Polysaccharides

1.2.3End of Topic Test - Monomers, Polymers and Carbs

1.2.4Exam-Style Question - Carbohydrates

1.2.5A-A* (AO3/4) - Carbohydrates

1.3Lipids

1.3.1Triglycerides & Phospholipids

1.3.2Types of Fatty Acids

1.3.3Testing for Lipids

1.3.4Exam-Style Question - Fats

1.3.5A-A* (AO3/4) - Lipids

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

1.5.1DNA & RNA

1.5.2Polynucleotides

1.5.3DNA Replication

1.5.4Exam-Style Question - Nucleic Acids

1.5.5A-A* (AO3/4) - Nucleic Acids

1.6ATP

1.6.1Structure of ATP

1.6.2End of Topic Test - Nucleic Acids & ATP

1.7Water

1.7.1Structure & Function of Water

1.7.2A-A* (AO3/4) - Water

1.8Inorganic Ions

1.8.1Inorganic Ions

1.8.2End of Topic Test - Water & Inorganic Ions

2Cells

2.1Cell Structure

2.1.1Introduction to Cells

2.1.2Eukaryotic Cells & Organelles

2.1.3Eukaryotic Cells & Organelles 2

2.1.4Prokaryotes

2.1.5A-A* (AO3/4) - Organelles

2.1.6Methods of Studying Cells

2.1.7Microscopes

2.1.8End of Topic Test - Cell Structure

2.1.9Exam-Style Question - Cells

2.1.10A-A* (AO3/4) - Cells

2.2Mitosis & Cancer

2.2.1Mitosis

2.2.2Investigating Mitosis

2.2.3Cancer

2.2.4A-A* (AO3/4) - The Cell Cycle

2.3Transport Across Cell Membrane

2.3.1Cell Membrane Structure

2.3.2A-A* (AO3/4) - Membrane Structure

2.3.3Diffusion

2.3.4Osmosis

2.3.5Active Transport

2.3.6End of Topic Test - Mitosis, Cancer & Transport

2.3.7Exam-Style Question - Membranes

2.3.8A-A* (AO3/4) - Membranes & Transport

2.3.9A-A*- Mitosis, Cancer & Transport

2.4Cell Recognition & the Immune System

2.4.1Immune System

2.4.2The Immune Response

2.4.3Antibodies

2.4.4Primary & Secondary Response

2.4.5Vaccines

2.4.6HIV

2.4.7Ethical Issues

2.4.8End of Topic Test - Immune System

2.4.9Exam-Style Question - Immune System

2.4.10A-A* (AO3/4) - Immune System

3Substance Exchange

3.1Surface Area to Volume Ratio

3.1.1Size & Surface Area

3.1.2A-A* (AO3/4) - Cell Size

3.2Gas Exchange

3.2.1Single-Celled Organisms

3.2.2Multicellular Organisms

3.2.3Control of Water Loss

3.2.4Human Gas Exchange

3.2.5Ventilation

3.2.6Dissection

3.2.7Measuring Gas Exchange

3.2.8Lung Disease

3.2.9Lung Disease Data

3.2.10End of Topic Test - Gas Exchange

3.2.11A-A* (AO3/4) - Gas Exchange

3.3Digestion & Absorption

3.3.1Overview of Digestion

3.3.2Digestion in Mammals

3.3.3Absorption

3.3.4End of Topic Test - Substance Exchange & Digestion

3.3.5A-A* (AO3/4) - Substance Ex & Digestion

3.4Mass Transport

3.4.1Haemoglobin

3.4.2Oxygen Transport

3.4.3The Circulatory System

3.4.4The Heart

3.4.5Blood Vessels

3.4.6Cardiovascular Disease

3.4.7Heart Dissection

3.4.8Xylem

3.4.9Phloem

3.4.10Investigating Plant Transport

3.4.11End of Topic Test - Mass Transport

3.4.12A-A* (AO3/4) - Mass Transport

4Genetic Information & Variation

4.1DNA, Genes & Chromosomes

4.1.1DNA

4.1.2Genes

4.1.3A-A* (AO3/4) - DNA

4.2DNA & Protein Synthesis

4.2.1Protein Synthesis

4.2.2Transcription & Translation

4.2.3End of Topic Test - DNA, Genes & Protein Synthesis

4.2.4Exam-Style Question - Protein Synthesis

4.2.5A-A* (AO3/4) - Coronavirus Translation

4.2.6A-A* (AO3/4) - Transcription

4.2.7A-A* (AO3/4) - Translation

4.3Mutations & Meiosis

4.3.1Mutations

4.3.2Meiosis

4.3.3A-A* (AO3/4) - Meiosis

4.3.4Meiosis vs Mitosis

4.3.5End of Topic Test - Mutations, Meiosis

4.3.6A-A* (AO3/4) - DNA,Genes, CellDiv & ProtSynth

4.4Genetic Diversity & Adaptation

4.4.1Genetic Diversity

4.4.2Natural Selection

4.4.3A-A* (AO3/4) - Natural Selection

4.4.4Adaptations

4.4.5Investigating Natural Selection

4.4.6End of Topic Test - Genetic Diversity & Adaptation

4.4.7A-A* (AO3/4) - Genetic Diversity & Adaptation

4.5Species & Taxonomy

4.5.1Classification

4.5.2DNA Technology

4.5.3A-A* (AO3/4) - Species & Taxonomy

4.6Biodiversity Within a Community

4.6.1Biodiversity

4.6.2Agriculture

4.6.3End of Topic Test - Species,Taxonomy& Biodiversity

4.6.4A-A* (AO3/4) - Species,Taxon&Biodiversity

4.7Investigating Diversity

4.7.1Genetic Diversity

4.7.2Quantitative Investigation

5Energy Transfers (A2 only)

6Responding to Change (A2 only)

6.1Nervous Communication

6.1.1Survival

6.1.2Plant Responses

6.1.3Animal Responses

6.1.4Reflexes

6.1.5End of Topic Test - Reflexes, Responses & Survival

6.1.6Receptors

6.1.7The Human Retina

6.1.8Control of Heart Rate

6.1.9End of Topic Test - Receptors, Retina & Heart Rate

6.2Nervous Coordination

6.2.1Neurones

6.2.2Action Potentials

6.2.3Speed of Transmission

6.2.4End of Topic Test - Neurones & Action Potentials

6.2.5Synapses

6.2.6Types of Synapse

6.2.7Medical Application

6.2.8End of Topic Test - Synapses

6.2.9A-A* (AO3/4) - Nervous Comm&Coord

6.3Muscle Contraction

6.3.1Skeletal Muscle

6.3.2Sliding Filament Theory

6.3.3Contraction

6.3.4Slow & Fast Twitch Fibres

6.3.5End of Topic Test - Muscles

6.3.6A-A* (AO3/4) - Muscle 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

7.1.1Key Terms in Genetics

7.1.2Inheritance

7.1.3Linkage

7.1.4Multiple Alleles & Epistasis

7.1.5Chi-Squared Test

7.1.6End of Topic Test - Genetics

7.1.7A-A* (AO3/4) - Genetics

7.2Populations

7.2.1Populations

7.2.2Hardy-Weinberg Principle

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

7.4Populations in Ecosystems

7.4.1Overview of Ecosystems

7.4.2Niche

7.4.3Population Size

7.4.4Investigating Population Size

7.4.5End of Topic Test - Ecosystems & Population Size

7.4.6Succession

7.4.7Conservation

7.4.8End of Topic Test - Succession & Conservation

7.4.9A-A* (AO3/4) - Ecosystems

8The Control of Gene Expression (A2 only)

8.1Mutation

8.1.1Mutations

8.1.2Effects of Mutations

8.1.3Causes of Mutations

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

8.3.1Using Genome Projects

8.4Gene Technology

8.4.1Recombinant DNA

8.4.2Producing Fragments

8.4.3Amplification

8.4.4End of Topic Test - Genome Project & Amplification

8.4.5Using Recombinant DNA

8.4.6Medical Diagnosis

8.4.7Genetic Fingerprinting

8.4.8End of Topic Test - Gene Technologies

8.4.9A-A* (AO3/4) - Gene Technology

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