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OCR Gateway GCSE Biology

Revision Notes

Home / GCSE / Biology / OCR Gateway / Revision Notes / 5. Genes, Inheritance & Selection / 5.1 Inheritance / 5.1.3 Influence of Genetic Variants on Phenotype


5.1.3 Influence of Genetic Variants on Phenotype


Gene Expression

Higher Tier Only

  • The human genome contains all of the genetic information that an organism requires to function
  • This includes sections of DNA which are called coding DNA and non-coding DNA
  • Coding and non-coding DNA both play a role in gene expression

Coding DNA

  • Coding DNA refers to the genes of an organism which provide the instructions required to synthesize proteins
  • Only a small proportion of the genes in the genome may be expressed at any time
  • This is because genes must be activated if they are to be expressed

Non-coding DNA

  • Non-coding DNA does not code for proteins
  • However, it can influence protein synthesis through interactions with the coding regions of DNA
  • Non-coding DNA can cause activation or deactivation of genes in the coding DNA

mutations-in-coding-and-non-coding-dna-1

DNA is made up of regions of coding DNA and regions of non-coding DNA, both regions are involved in gene expression

Mutations and gene expression

  • Some genetic variants (resulting from mutation) can influence the phenotype of the organism
  • Variants which directly impact gene expression work by
    • Altering the DNA base sequence within the coding DNA regions of the genome
    • The mutation significantly alters the structure of the protein produced
    • This results in a non-functional protein
      • For example, an enzyme active site may be altered significantly so that the substrate no longer fits
  • Variants which indirectly impact gene expression work by
    • Altering the DNA base sequence within the non-coding DNA regions of the genome
    • This mutation can have two effects on the coding DNA
      • It may activate genes in the coding regions resulting in transcription of a gene which was previously not being expressed
        • A protein is produced
      • It may inactivate genes in the coding regions which halts transcription of a gene which was previously being expressed
        • A protein isn't produced

mutations-in-coding-and-non-coding-dna-2

Gene expression can be affected directly and indirectly by mutations within the coding and non-coding DNA



  • 1. Cell Level Systems
    • 1.1 Cell Structures
      • 1.1.1 Light Microscopes
        • 1.1.2 Cell Structure
          • 1.1.3 Electron Microscopes
          • 1.2 What Happens in Cells (& What do Cells Need?)
            • 1.2.1 DNA Structure
              • 1.2.2 Nucleotides
                • 1.2.3 Protein Synthesis
                  • 1.2.4 The Mechanism of Enzyme Action
                  • 1.3 Respiration
                    • 1.3.1 Respiration is a Chemical Process
                      • 1.3.2 Aerobic & Anaerobic Respiration
                        • 1.3.3 Biological Molecules
                          • 1.3.4 Tests for Biological Molecules
                          • 1.4 Photosynthesis
                            • 1.4.1 Photosynthetic Organisms as Producers
                              • 1.4.2 The Effect of 3 Factors on Photosynthesis
                                • 1.4.3 Limiting Factors - Photosynthesis
                              • 2. Scaling Up
                                • 2.1 Supplying the Cell
                                  • 2.1.1 Cellular Transport - Diffusion & Osmosis
                                    • 2.1.2 Cellular Transport - Active Transport
                                      • 2.1.3 Mitosis & the Cell Cycle
                                        • 2.1.4 Cell Differentiation
                                          • 2.1.5 Stem Cells in Animals & Plants
                                            • 2.1.6 Embryonic & Adult Stem Cells in Animals
                                            • 2.2 The Challenges of Size
                                              • 2.2.1 Surface Area: Volume Ratio & Transport
                                                • 2.2.2 Transport Into & Out of Organisms
                                                  • 2.2.3 The Heart
                                                    • 2.2.4 Blood Vessels
                                                      • 2.2.5 Blood Composition
                                                        • 2.2.6 Transport of Water & Mineral Ions in Plants
                                                          • 2.2.7 Transpiration & Translocation
                                                            • 2.2.8 Xylem & Phloem
                                                              • 2.2.9 Affecting Water Uptake by a Plant
                                                            • 3. Organism Level Systems
                                                              • 3.1 Coordination & Control – the Nervous System
                                                                • 3.1.1 The Nervous System - Structure
                                                                  • 3.1.2 Generating a Nervous Response
                                                                    • 3.1.3 The Reflex Arc
                                                                      • 3.1.4 The Eye
                                                                        • 3.1.5 The Brain
                                                                          • 3.1.6 Investigating Brain Function
                                                                          • 3.2 Coordination & Control – the Endocrine System
                                                                            • 3.2.1 Hormonal Control
                                                                              • 3.2.2 Thyroxine & Adrenaline
                                                                                • 3.2.3 Hormones in Human Reproduction
                                                                                  • 3.2.4 Four Hormones in the Menstrual Cycle
                                                                                    • 3.2.5 Contraception
                                                                                      • 3.2.6 Hormones to Treat Infertility
                                                                                        • 3.2.7 Plant Hormones - Tropisms
                                                                                          • 3.2.8 Use of Plant Hormones by Humans
                                                                                          • 3.3 Maintaining Internal Environments
                                                                                            • 3.3.1 Constant Internal Environment
                                                                                              • 3.3.2 The Skin in Temperature Control
                                                                                                • 3.3.3 Insulin in Blood Sugar Control
                                                                                                  • 3.3.4 Glucagon in Blood Sugar Control
                                                                                                    • 3.3.5 Osmotic Changes in Body Fluids
                                                                                                      • 3.3.6 The Kidneys
                                                                                                        • 3.3.7 ADH in Water Reabsorption
                                                                                                          • 3.3.8 Responses to Extremes
                                                                                                        • 4. Community Level Systems
                                                                                                          • 4.1 Ecosystems
                                                                                                            • 4.1.1 The Cycling of Materials
                                                                                                              • 4.1.2 The Carbon Cycle
                                                                                                                • 4.1.3 Decomposition & Decay
                                                                                                                  • 4.1.4 Levels of Organisation in an Ecosystem
                                                                                                                    • 4.1.5 Abiotic & Biotic Factors
                                                                                                                      • 4.1.6 Interdependence & Competition
                                                                                                                        • 4.1.7 Trophic Levels of Organisms
                                                                                                                          • 4.1.8 Pyramids of Biomass & Biomass Transfers
                                                                                                                        • 5. Genes, Inheritance & Selection
                                                                                                                          • 5.1 Inheritance
                                                                                                                            • 5.1.1 The Genome & Genetics
                                                                                                                              • 5.1.2 Variation
                                                                                                                                • 5.1.3 Influence of Genetic Variants on Phenotype
                                                                                                                                  • 5.1.4 Sexual Reproduction
                                                                                                                                    • 5.1.5 Asexual Reproduction
                                                                                                                                      • 5.1.6 Inheritance
                                                                                                                                        • 5.1.7 The History of Genetics
                                                                                                                                        • 5.2 Natural Selection & Evolution
                                                                                                                                          • 5.2.1 Genetic Variation Within a Population
                                                                                                                                            • 5.2.2 Evolution Through Natural Selection
                                                                                                                                              • 5.2.3 Classification
                                                                                                                                            • 6. Global Challenges
                                                                                                                                              • 6.1 Monitoring & Maintaining the Environment
                                                                                                                                                • 6.1.1 The Distribution & Abundance of Organisms
                                                                                                                                                  • 6.1.2 Human Interactions Within Ecosystems
                                                                                                                                                    • 6.1.3 Maintaining Biodiversity
                                                                                                                                                      • 6.1.4 The Impact of Environmental Changes
                                                                                                                                                      • 6.2 Feeding the Human Race
                                                                                                                                                        • 6.2.1 Food Security
                                                                                                                                                          • 6.2.2 Selective Breeding of Food Products
                                                                                                                                                            • 6.2.3 Genetic Engineering
                                                                                                                                                              • 6.2.4 The Process of Genetic Engineering
                                                                                                                                                                • 6.2.5 Biotechnology & Human Population
                                                                                                                                                                • 6.3 Monitoring & Maintaining Health
                                                                                                                                                                  • 6.3.1 Health & Disease: Disease Types
                                                                                                                                                                    • 6.3.2 Communicable Diseases
                                                                                                                                                                      • 6.3.3 Plant Disease - Detection & Identification
                                                                                                                                                                        • 6.3.4 White Blood Cells & Platelets
                                                                                                                                                                          • 6.3.5 Non-Specific Defences
                                                                                                                                                                            • 6.3.6 The Human Immune System
                                                                                                                                                                              • 6.3.7 Monoclonal Antibodies
                                                                                                                                                                                • 6.3.8 Vaccines Against Disease
                                                                                                                                                                                  • 6.3.9 Developing New Medicines
                                                                                                                                                                                    • 6.3.10 Non-Communicable Human Diseases
                                                                                                                                                                                      • 6.3.11 Stem Cells in Medicine
                                                                                                                                                                                        • 6.3.12 Gene Technology in Medicine
                                                                                                                                                                                      • 7. Practical Skills
                                                                                                                                                                                        • 7.1 Practical Skills
                                                                                                                                                                                          • 7.1.1 Practical - Using Light Microscopes to View Cells
                                                                                                                                                                                            • 7.1.2 Practical - Testing for Food Molecules
                                                                                                                                                                                              • 7.1.3 Practical - DNA Extraction
                                                                                                                                                                                                • 7.1.4 Practical - Sampling Techniques - Quadrats
                                                                                                                                                                                                  • 7.1.5 Practical - Investigating Enzymatic Reactions
                                                                                                                                                                                                    • 7.1.6 Practical - Investigating Photosynthesis
                                                                                                                                                                                                      • 7.1.7 Practical - Investigating Respiration
                                                                                                                                                                                                        • 7.1.8 Practical - Using a Potometer
                                                                                                                                                                                                          • 7.1.9 Practical - Measurement of Stomatal Density
                                                                                                                                                                                                            • 7.1.10 Practical - Aseptic Technique
                                                                                                                                                                                                              • 7.1.11 Practical - Surface Area: Volume Ratio
                                                                                                                                                                                                                • 7.1.12 Practical - Investigating Osmosis


                                                                                                                                                                                                                DOWNLOAD PDF

                                                                                                                                                                                                              Author: Ruth

                                                                                                                                                                                                              Ruth graduated from Sheffield University with a degree in Biology and went on to teach Science in London whilst also completing an MA in innovation in Education. With 10 years of teaching experience across the 3 key science disciplines, Ruth decided to set up a tutoring business to support students in her local area. Ruth has worked with several exam boards and loves to use her experience to produce educational materials which make the mark schemes accessible to all students.


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