Aqa A-Level Biology Cheatsheet PDF

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The document discusses various biology concepts including carbohydrates, lipids, proteins, genetically modified organisms, genetic engineering techniques and genetic fingerprinting.

The document discusses monomers and polymers that make up carbohydrates, lipids and proteins. It covers monosaccharides, disaccharides, polysaccharides, fatty acids and their properties.

The document discusses how genetically modified plants, animals and bacteria can provide benefits but also issues. It discusses gene therapy and ways to reduce risks of gene modification.

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A-LEVEL AQA BIOLOGY


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The aim of this pack is simple — we wanted to condense the A-level Biology course into a few super condensed
pages. Now you have a concise summary of the entire course that focuses on the most important definitions, key
terms, diagrams and concepts.

We’ve spent weeks working with top designers, academic writers and illustrators to ensure this is the best cheatsheet
out there. Our promise to you is you won’t find anything better. The cheatsheet pack has been built off the AQA
specification to ensure no important information is missed — below is a table which summarises how our cheatsheets
map to the AQA specification.

Specification Points Cheatsheet


3.1.1—3.1.4.2 Carbohydrates, Lipids & Proteins
3.1.5.1—3.1.8 Nucleic acids, ATP, Water & Inorganic ions
3.2.1.1—3.2.2 Cell structure & Replication
3.2.3—3.2.4 Cell transport & Immunity
3.3.1—3.3.4.2 Gas exchange, Digestion & Mass transport
3.4.1—3.4.7 Genetic Information, Protein Synthesis, Classification & Biodiversity
3.5.1—3.5.2 Photosynthesis & Respiration
3.5.3—3.5.4 Energy, Ecosystems & Nutrient Cycles
3.6.1.1—3.6.2.2 Responses, Receptors, Neurones & Synapses
3.6.2.2—3.6.4.3 Muscles & Homeostasis
3.7.1 Inheritance
3.7.2—3.7.4 Populations, Evolution & Ecosystems
3.8.1—3.8.3 Stem Cells, Mutations, Gene Regulation, Cancer & Genome Projects
3.8.4.1—3.8.4.3 Gene Technologies

We hope you enjoy using it and wish you the best of luck in your A-levels.

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CARBOHYDRATES, LIPIDS & PROTEINS
CHEAT SHEET
Monomers & Polymers Lipids Biochemical Tests
• Monomers are individual molecules that make up a polymer. • Fatty acids can be: Molecule Reagent Positive result
• Polymers are long chains that are composed of many individual ◦ Saturated – there are no C=C bonds and the molecule has as
Reducing Benedict’s reagent → Heat Red/orange
monomers that have been bonded together in a repeating many hydrogen atoms as possible.
sugars precipitate
pattern. ◦ Unsaturated – there is at least one C=C bond, therefore the
molecule contains fewer hydrogen atoms than is maximally Starch Iodine in potassium iodide Blue/black
• Condensation Reactions occurs when two molecules combine to
possible. solution
form a more complex molecule with the removal of water.
• A triglyceride molecule is formed by joining one molecule Non-reducing Hydrochloric acid → Heat Red/orange
of glycerol to three fatty acids through three condensation sugars Sodium hydrogencarbonate precipitate
reactions, forming ester bonds. Benedict’s reagent → Heat
• Triglycerides have key Proteins Sodium hydroxide Purple
roles in respiration and Copper (II) sulphate
energy storage due to Lipids Ethanol Cloudy white
• Hydrolysis Reactions occurs when larger molecules are broken its insolubility and high Water → Shake
down into smaller molecules with the addition of water. carbon to hydrogen ratio.
• Phospholipids replace one of the fatty acid chains in
triglycerides with a phosphate molecule. Enzymes
• The hydrophobic tails • Enzymes are biological catalysts that speeds up the rate of reaction
and hydrophilic heads of and remains unchanged and reusable at the end of the reaction.
phospholipids allow them to • They lower the activation energy of the reaction.
form phospholipid bilayers. • The lock and key model proposed that each substrate is a key
that only fits a specific lock or enzyme. The alternative induced fit
Carbohydrates model has been proposed (below)

• Monosaccharides are the simplest carbohydrates, consisting of


only one sugar molecule (e.g. Glucose, Fructose & Galactose).
Proteins
• Amino acids are the monomer units used to make proteins.
• The 20 naturally occurring amino acids only differ in their R groups.
• Dipeptides are formed when two
amino acids are joined together • The specificity of enzymes is due to the tertiary structure of its
by a condensation reaction, active site, allowing complementary binding to substrates.
forming a peptide bond. • Enzymes catalyse both intracellular and extracellular reactions
• A polypeptide is a polymer that determine structures and functions from cellular to whole
made of many amino acids organism level.
joined together by peptide • Factors affecting enzyme activity include:
• Glucose is a hexose sugar with 2 isomers bonds.
pH: Temperature Enzyme
• Disaccharides are sugars that are composed of two • A protein may contain one or more polypeptide chains.
concentration
monosaccharides joined together in a condensation reaction, • There are four structural levels:
forming a glycosidic bond. Level Definition Bond type
Disaccharide Constituent monosaccharides Primary The specific sequence of amino Peptide bonds
acids in a polypeptide chain
Maltose 2 × α-glucose
Secondary The curling or folding of the Hydrogen bonds
Sucrose α-glucose and fructose polypeptide chain into α-helices
Lactose β-glucose and galactose and β-pleated sheets due to the
formation of hydrogen bonds Substrate Competitive & non-competitive inhibitor
• Polysaccharides are formed by many monosaccharides joined Tertiary The overall specific 3-D shape of Hydrogen bonds concentration concentration
together. a protein, which is determined by Ionic bonds
◦ Amylose, amylopectin (starch) is the main polysaccharide interactions between R groups Disulphide
energy store in plants, is composed of α-glucose. and the properties of R groups bridges
◦ In animals, the polysaccharide energy store is called Quaternary The specific 3-D shape of a Hydrogen bonds
glycogen, composed of α-glucose. protein that is determined by the Ionic bonds
◦ Cellulose is a structural component of plant cell walls, multiple polypeptide chains and/or Disulphide
composed of long unbranched chains of β-glucose. prosthetic groups bonded together bridges

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NUCLEIC ACIDS, ATP, WATER & INORGANIC IONS
CHEAT SHEET
DNA & RNA ATP Water
• DNA & RNA are both polynucleotides.
• The structure of ATP is: • Water molecules consist of 2 hydrogen molecules covalently to
• The basic structure of a nucleotide is:
an oxygen molecule.

DNA RNA ATP → ADP ADP → ATP


Number of Strands Two antiparallel One strand
strands Reaction type Hydrolysis Condensation
Length Very long Relatively short • The molecules are slightly polar because the oxygen nucleus
Enzyme involved ATP hydrolase ATP synthase pulls the shared electrons away from the hydrogen nuclei.
Pentose Sugar Deoxyribose Ribose
Giving the oxygen nuclei a δ- charge, and the hydrogen nuclei
Nitrogenous Bases Adenine, Cytosine, Adenine, Cytosine, Energy profile of
Releases energy Requires energy a δ+ charge.
Guanine & Thymine Guanine & Uracil reaction
• The polarity of water causes attraction between water
Function Store genetic Transfer genetic molecules. This force of attraction is called a hydrogen bond.
information information & forms
ribosomes with
proteins Property of water Why it is useful

Liquid medium Provides habitats for aquatic


DNA Double Helix & Replication organisms, medium for
chemical reactions & used for
• Polynucleotides are polymers made up of many nucleotide transport
monomers joined together by a series of condensation
reactions, forming phosphodiester bonds. • The hydrolysis of ATP can be coupled to energy-requiring Important metabolite Used in hydrolysis &
• The DNA double helix is held together by hydrogen (H) bonds reaction and used to phosphorylate compounds. condensation reactions
between complementary base pairs. • The condensation of ADP to form ATP can occur during
◦ 2 H bonds between Adenine & Thymine respiration and photosynthesis. High specific heat capacity Keeps aquatic & cellular
◦ 3 H bonds between Cysteine and Guanine environments stable
• Semi conservative replication is the method in which DNA
High latent heat of Evaporation has a cooling
replicates, creating two molecules of DNA that consist of one
original DNA strand and one newly synthesised DNA strand. Inorganic Ions vaporisation effect on organisms
◦ DNA helicase breaks H bonds between the two strands
• Inorganic ions are atoms or molecules with an electric charge, Cohesion of molecules Water is drawn up the xylem
◦ Free nucleotides complementary base pair to the exposed
strands containing no carbon.
• Cations are positively charged ions Surface tension Allows pond-skaters to walk
◦ DNA polymerase catalyses condensation reactions to join
• Anions are negatively charged ions on the surface
adjacent nucleotides, forming phosphodiester bonds.
• Inorganic ions occur in solution in the cytoplasm and body
fluids of organisms, some in high concentrations and others in Good solvent and transport Dissolves ionic and polar
very low concentrations medium molecules, allowing them to
• Each type of ion has a specific role, depending on its properties easily be transported
◦ Hydrogen ions determine the pH of bodily fluids. The higher
the concentration, the lower the pH Good reaction medium The cytoplasm in cells is an
◦ Iron ions are essential components of the prosthetic group in aqueous solution where many
haemoglobin and bind to oxygen chemical reactions happen
◦ Sodium ions are used in the co-transport of glucose and
amino acids across cell membranes Incompressible Can prevent plants from
◦ Phosphate ions are essential components of DNA, RNA & wilting & act as a hydrostatic
ATP skeleton for invertebrates

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CELL STRUCTURE & REPLICATION
CHEAT SHEET
Eukaryotic Cells Prokaryotic Cells Methods of Studying Cells
• Eukaryotes include animal, plant & fungal cells. • Prokaryotes are smaller and simpler than eukaryotes. • There are 3 main types of microscopes used to observe cells:
• The following organelles are presents in eukaryotic cells: Feature Eukaryotic Cell Prokaryotic Cell Transmission
Scanning Electron
Organelle Structure Function Nucleus Present Absent Light Microscope Electron
Microscope
Microscope
• Controls passage of entry of Linear and packaged
Cell surface substance into the cell DNA into chromosomes in
Circular and freely Medium Light Beam Electron Beam Electron Beam
membrane • Site of cell communication nucleus
floating in cytoplasm Dimensions 2D 3D 2D
via receptors Max Magnification X1,500 X200,000 X2,000,000
• Stores DNA
Cell Membrane Present Present
Membrane- Max Resolution 200 nm 20 nm 0.1 nm
• Nuclear pores allow mRNA
Nucleus & ribosomes to pass through bound Present Absent • Magnification is how much bigger the image is compared to the
organelles original object viewed with the naked eye
Ribosomes Present (80S) Present (70S) • Magnification = (size of image)/(size of object)
• Carry out aerobic respiration • Resolution is how well a microscope distinguishes between two
to produce ATP Cell Wall
Sometimes (cellulose Present points that are close together.
Mitochondria
or chitin) (peptidoglycan) • Cell fractionation can be used to separate organelles.
Chloroplasts Sometimes Absent ◦ Homogenisation - grinding cells release the organelles into
• Contains digestive enzymes
to break down pathogens, Flagellum Absent Sometimes solution
Lysosomes Capsule Absent Sometimes ◦ Filtration - separates organelles & debris
old organelles, cells & food
molecules ◦ Ultracentrifugation - using a centrifuge the organelles are
Plasmid Absent Sometimes separated out in order of mass
• Site of protein synthesis
Ribosomes • Bacteria replicate by binary fission.

Rough • Provide a large surface area


Cell Division
endoplasmic for protein synthesis • Within multicellular organisms, not all cells retain the ability to
reticulum divide
Smooth • Synthesise, store and • The eukaryotic cell cycle has three
endoplasmic transport lipids and main stages:
reticulum carbohydrates. • Interphase consists of two growth
• Modifies proteins phases (G1&G2) and a DNA synthesis
• Sort, package, and transport stage (S). The cell may exit the cell
Golgi
molecules around the cell cycle at G0
Apparatus
• Mitosis is the nuclear division
• Cytokinesis is when the cell splits in
• There are additional organelles in plants, algae & fungi: two, forming two identical daughter cells.
Present Stage Description
Organelle Structure Function in which DNA condenses & coils,
organism
Prophase nuclear envelope breaks
• Site of Plants & down, centrioles move to
Chloroplasts photosynthesis algae opposite poles

• Maintains cell Plants


Viruses Spindle fibres attach
Metaphase to centromeres &
structure • Viruses are acellular and non- chromosomes line at the
Cell vacuole • Act as a tempo- living. equator
rary energy store • The basic structure of viruses Centromeres divides,
is: Anaphase chromatids move to
• Provides Plants &
support & algae • Viruses replicate by binding opposite poles
to the host cell, injecting their
Cell wall mechanical
genetic material into the cell, Telophase Chromosomes uncoil,
strength Fungi nuclear envelope reforms
using the host’s machinery to
replicate & burst out of the host cell. • Cancerous cells have uncontrolled cell division and hence have
• In complex multicellular organisms, eukaryotic cells become a modified cell cycle – one that repeats too quickly.
• Specialised for specific functions. • Treatments for cancer involve disrupting the cell cycle
• Specialised cells are organised into tissues, tissues into organs (chemotherapy) by stopping DNA synthesis or by changing the
and organs into systems. cytoskeleton in mitosis

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CELL TRANSPORT & IMMUNITY
CHEAT SHEET
Cell Membranes Components of the Immune System Vaccination
• Cell membranes act as barriers and can control what passes into • Antigens are any part of an organism/substance which is • Vaccination is the introduction into the body of a vaccine
and out of cells and organelles recognised as foreign by the immune system and goes on to containing disease antigens, by injection or mouth, in order to
• The cell membrane is composed trigger an immune response. induce artificial immunity
of phospholipids, proteins, • Vaccines work by injecting weakened/dead pathogens into
glycoproteins, glycolipids and Cell Function the body to stimulate an immune response, to form memory
cholesterol. Macrophages Engulfs and digests pathogens by fusion of cells against the specific antigen, which destroy the pathogen
• Cholesterol has a hydrophilic Phagocytes quickly upon infection.
Neutrophils the phagosome with lysosomes
end and a hydrophobic end & regulates membrane fluidity by Stimulates B cells to divide and secrete • Herd immunity is when the vaccination of a significant
intercalating between the phospholipids. T helper cells proportion of the population provides protection for individuals
antibodies
kill abnormal cells and infected body cells via who have not developed immunity
T cells Cytotoxic T cells • Pathogen may mutate so that its antigens change suddenly
Passive Transport T memory cell
perforin
Remain in the blood for years and provide (antigenic variability) So the vaccine is now ineffective to the
long term protection new antigens.
• Passive transport involves exchange of substances without • Ethical considerations: side effects, financial cost, right to
requiring metabolic energy from the cell Plasma cell Secrete antibodies
B cells Remain in the blood for years and provide choose, animal testing of vaccines, human trials
• Diffusion is the net movement of particles from an area of B memory cell • Active immunity occurs when specific antibodies are produced
higher concentration to an area of lower concentration (down long term protection
by the individual’s own immune system
their concentration gradient). • Antibodies are a protein produced • Passive immunity occurs when specific antibodies are
• Facilitated diffusion is the net movement of particles down by lymphocytes in response to the introduced to the individual from an outside source.
their concentration gradient across a partially permeable cell presence of the corresponding antigen. Immunity Example
membrane via carrier or channel proteins. • Antibodies agglutinate pathogens by Natural Active Direct contact with pathogen
forming antigen-antibody complexes, Natural Passive Antibodies through breastmilk
leading to phagocytosis & neutralise Artificial Active Vaccination
toxins. Artificial Passive Injection of antibodies

Cell-mediated Immunity Human Immunodeficiency Virus (HIV)


• Water potential is a measure of the tendency of water • Antigen from the pathogen is displayed on the cell surface of • HIV replicates in T helper cells, causing the
molecules to move from one area to another area and describes body cells or phagocytes after phagocytosis symptoms of AIDs due the to decreased
• T cells with the correct specific receptor bind with the antigen
the pressure created by these water molecules; the more dilute and are activated cell count. The compromised immune
a solution, the higher (less negative) the water potential (Ѱ). • They divide by mitosis (clonal expansion) and differentiate into system leads to the risk of serious
• Osmosis is the net movement of water from an area of higher T helper, cytotoxic and memory cells. infections.
water potential to an area of lower water potential across a • Antibiotics
partially permeable membrane. kill bacteria by targeting bacteria
• The rate of diffusion can be increased by increasing the
number of channel & carrier proteins, the surface area of the
Humoral immunity specific enzymes or organelles. They
• The humoral response is best at fighting pathogens which are are ineffective against viruses due to
cell membrane, reducing the diffusion distance and creating a
free in the bodily fluids the virus using the host’s machinery.
steeper concentration gradient.
• Free antigen binds to a complementary B cell receptor,
activating the B cell (clonal selection)
Active Transport • The pathogen is endocytosed, and the antigen presented on

Active transport is the movement


the plasma membrane
• T helper cell binds to the presented antigen and stimulates the Using Monoclonal Antibodies
of particles from an area of low B cell to divide by mitosis (clonal expansion) • Drugs can be attached to monoclonal antibodies, in order
concentration to an area of high • The B cell differentiates to plasma and memory cells to ensure the delivery of the drug to specific cell types e.g.
concentration (against their cytotoxic drug to a cancer cell
concentration gradient) across
a cell membrane, using ATP and Primary & Secondary Response • Disease diagnosis can occur by testing for the presence of
specific pathogen antibodies in the blood.
carrier proteins. • The primary immune response • Monoclonal antibodies are also used for pregnancy testing
• Co-transport occurs when the is when a pathogen infects the • Measurement & diagnosis of antigen occur in the ELISA test
transport of one substance is body for the first time the initial where different monoclonal antibodies are bound to the surface
coupled with the transport of immune response is slow of a well. They attach to antigen present in a sample, allowing
another substance across a • The secondary immune response the attachment of a detection antibody. An enzyme attached
membrane. is a more rapid and vigorous to the detection antibody digests a substrate, which is added,
• Glucose & sodium are co- response caused by a second or causing a colour change. The colour intensity corresponds to
transported in the ileum: subsequent infection by the same the amount of the antigen present in the sample
pathogens. This is due to the • Ethical considerations: treatment may cause death (risky), use
presence of memory cells. of animals for production may cause harm, human trials

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GAS EXCHANGE, DIGESTION & MASS TRANSPORT
CHEAT SHEET
Gas Exchange Surface Area to Volume Ratio Digestion
• Single celled organisms can exchange oxygen and carbon • The greater the size of an organism, the • During digestion, large biological molecules are hydrolysed to
dioxide directly through their plasma membrane via diffusion. smaller its surface area: volume ratio smaller molecules that can be absorbed across cell membranes
• Insects exchange gas in their tracheal system. Air enters via • Larger organisms therefore require • Digestion enzymes in mammals includes:
spiracles, travels through trachea and tracheoles, delivering specialised exchange surfaces and Enzyme Substrate Product(s)
oxygen directly to every tissue. transport mechanisms to meet their Amylase Starch Maltose
• Gas exchange in fish occur metabolic requirements Membrane- Maltase Maltose α-glucose molecules
via gills. The orientation • Specalised exchange surface have: a large bound Sucrase Sucrose Glucose & fructose
of the gill filaments surface area, thin barriers and associated disaccharidases Lactase Lactose Glucose & galactose
and lamellae ensures transport systems to maintain a steep diffusion gradient. Monoglyceride & fatty
Lipase Lipids
that the water flowing • Also, organisms with a higher metabolic rate require more acids
Hydrolyse peptide Produce several
over them moves in the nutrients and produce more waste, therefore require a Endopeptidases (pepsin,
bonds in the middle polypeptide chains
opposite direction to the flow of blood through the capillaries specialised exchange surface trypsin & chymotrypsin)
region of proteins
(countercurrent flow), maintaining a diffusion gradient. Hydrolyse peptide Release single amino
• Gas exchange in dicotyledonous plants occurs in the leaves. Exopeptidases bonds on terminal acids and dipeptides
The stomata can open to allow Mass Transport in Animals Membrane-bound
amino acids
Single amino acids
gases diffuse in and out of the • Red blood cells transport oxygen using the protein haemoglobin Dipeptides
leaf. The mesophyll cells have dipeptidases
a large surface area for rapid • The ileum is the final section of the small intestine where both
diffusion. hydrolysis and absorption occurs.
• Gas exchange can lead to • Bile salts made by the liver, emulsify lipids in order to increase
• Haemoglobin is made up of four polypeptide chains, each the surface area of the lipids, for greater access to lipases.
water loss. Plants can control containing a prosthetic haem group. Each haem group binds
the opening of their stomata • Micelles are the products of lipase digestion that remain in association
one oxygen molecule with the bile salts to form structures. The micelles travel to the ileum
to limit this, and xerophytes may have additional adaptations • Binding of the first O2 molecule
such as: hairs, waxy cuticle, small leaves, sunken stomata, where, upon contact with the surface of ileum epithelium cells, they
causes a conformational change in the are broken down. This releases the non-polar monoglyceride and fatty
rolled leaves. Insects can also control water loss but controlling haemoglobin, making the haem groups
open and closing of their spiracles, hair around spiracles and a acids, which diffuse straight into the epithelial cell.
more accessible to oxygen. • Amino acids and carbohydrates are absorbed via co-
waterproof, waxy cuticle. • Bohr affect - haemoglobin’s oxygen transportation with sodium.
binding affinity is inversely related to the
Human Gas Exchange System concentration of carbon dioxide, causing

• In humans, gas exchange occurs via the lungs


the oxygen dissociation curve to shift
• The cardiac cycle is the
Mass Transport in Plants
• The alveolar epithelium is sequence of events that • The xylem transports water & mineral ions up the plant against
adapted for gas exchange by occur within one full beat of gravity
having a large surface area, the heart. • Water evaporates from the leaves creating tension
good blood supply, thin walls & • Circulatory system: (transpiration), and the cohesive nature of water moves the
elastic fibres which help recoil whole column of water up the xylem (cohesion-tension theory)
• Ventilation is the process of Arteries & Arterioles Capillaries - area of metabolic
• The rate of transpiration is affected by: light, temperature,
breathing in (inspiration) and transports blood away from the substance exchange
humidity & wind.
out (expiration). heart
• The phloem transports assimilates from sources to sinks via
• Inspiration: external intercostal muscles translocation
contract, rib cage moves up & out, diaphragm • Sucrose is actively transported into
contracts, volume of the thorax is increased, the companion cells and moves via
atmospheric pressure is greater than pulmonary Veins and Venules Tissue fluid diffusion into the sieve tube followed
pressure and air is forced into the lungs. transports blood towards from the by water. Assimilates move from area
• Expiration: internal intercostal muscles contract, ribs move heart
of high to low pressure (mass flow). At
down and inwards, diaphragm relaxes, volume of the thorax the sink the solutes are removed, water
is decreased, pulmonary pressure is greater than atmospheric leaving by osmosis.
pressure, air is forced out of the lungs • To track the movement of sugars
• Pulmonary ventilation rate is the total volume of air moved into Tissue fluid formation: through the phloem, scientists’
the lungs during a minute. Arteriole: Hydrostatic pressure > radioactive isotopes are used in tracer
• Tidal volume is the volume of air moved in and out of the lungs water potential
Venule: Hydrostatic pressure < water experiments with radioactive isotopes
with a normal breath. • Ringing - removal of the bark and
• Breathing rate is the number of breaths per minute. potential
Remaining fluid returns to circulation phloem, theoretically prevents
• Pulmonary Ventilation Rate (dm3min−1) = Tidal Volume (dm3) × via the lymphatics system translocation to the sinks below the ring
Breathing Rate (min−1)

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GENETIC INFORMATION, PROTEIN SYNTHESIS, CLASSIFICATION & BIODIVERSITY
CHEAT SHEET
Genetic Information Causes of Genetic Variation Protein Synthesis
• In prokaryotic cells, DNA molecules are short, circular and not • Variation can arise due to mutation. • Structure of tRNA & mRNA:
associated with proteins. • Gene mutations are changes to the base sequence or quantity of • Transcription is the process of
• In eukaryotes, the nucleus contains very long, linear DNA DNA within a gene or section of DNA. making messenger RNA from
molecules associated with proteins, called histones. Together a a DNA template.
Type of gene
DNA molecule and its associated proteins form a chromosome. Description • DNA helicase breaks the
mutation hydrogen bonds between
• The mitochondria and chloroplasts of eukaryotic cells also When a nucleotide is changed to a different
contain DNA which, like the DNA of prokaryotes, is short, circular the DNA helix, free RNA
Substitution nucleotide. As the genetic code is degenerate, nucleotides base pair with the exposed DNA template strand.
and not associated with protein. this may not change which amino acid is coded • In prokaryotes, transcription results directly in the production of
• The genome is the full set of DNA found in an organism. mRNA from DNA.
Insertion/ Addition/removal of one or more nucleotides into
• The proteasome is the full range of proteins that can be • In eukaryotes, transcription results in the production of pre-
Deletion the DNA sequence. May result in a frameshift
synthesised from the genome. mRNA; this is then spliced to form mRNA.
• A gene is a section of DNA that code for polypeptides and • Mutagenic agents can increase the rate of gene mutation. • Translation is the process of making proteins by forming a
functional RNA and are located at a fixed locus on a DNA molecule. • Chromosome mutations are changes to the structure or number specific sequence of amino acids based on coded instructions
• A sequence of three DNA bases, called a codon, codes for of whole chromosomes. E.g. failure of chromosomes to separate in mRNA. RNA polymerase catalyses phosphodiester bonds
a specific amino acid. The genetic code is universal, non- in meiosis (non- between adjacent RNA nucleotides and the mRNA strand
overlapping and degenerate. disjunction). detaches, allowing the DNA helix to reform.
• In eukaryotes, sections of the nuclear DNA do not code for • Meiosis is also a cause of • mRNA attaches to a ribosome on the rough
variation, as it produces endoplasmic reticulum, tRNA carries the
polypeptides (introns). Exons are sections of DNA that code for
4 daughter cells that are corresponding amino acid to each codon
amino acid sequences. genetically different from on the mRNA one at a time, with an enzyme
each other. catalysing the formation of a peptide bond
Biodiversity • In meiosis 1, homologous chromosomes are separated from each
other, with one chromosome from each pair going into one of
between amino acids using ATP, until a
stop codon is reached and the peptide is
• Biodiversity is the variety of organisms in an area. It can be the two daughter cells. In the second meiotic division, the sister released, folding into its tertiary structure.
considered on a local or global scale. chromatids from each chromosome are separated.
• Species richness is a measure of the number of different species • Variation results from independent assortment of chromosomes
in a community.
• An index of diversity measure biodiversity taking into account
and crossing over during meiosis 1. Also, random fertilisation of
the haploid gametes. Classification
species richness and the number of individuals in each species. • The Biological Species Concept- a species contains all organisms
• Index of diversity = (N(N – 1))/(Σn(n-1)) that are capable of breeding together to produce living, fertile
◦ N = total number of organisms of all species Genetic Diversity & Adaptation offspring.
◦ n = total number of organisms of each species • Courtship and mating behaviour are a vital part of species
• Alleles are different forms of the survival. Courtship behaviour enables individuals to: recognise
• Farming techniques reduce biodiversity. E.g. monoculture, use of same gene.
herbicide & pesticides, hedgerow removal and woodland clearance. same species members & identify mate capable of breeding.
• Genetic diversity is the number • Classification is the process of sorting living things into groups.
• Conservationists protect biodiversity with methods such as: of different alleles of genes in a
giving endangered species legal protection, creating protected • Classification hierarchy comprises the taxa: domain, kingdom,
population. phylum, class, order, family, genus and species.
area & The Environmental Stewardship Scheme. • Genetic diversity is a factor enabling natural selection to occur.
• A balance between conservation and agriculture is needed. • Natural selection is a mechanism of evolution by which
individuals better adapted to their environment tend to survive,
Investigating Diversity reproduce successfully and pass on their alleles.
• In the process of natural selection: random mutation can result
• Genetic diversity within or between species can be compared by in new alleles of a gene, many mutations are harmful but, in
looking at: certain environments, the new allele of a gene might benefit
◦ The frequency of measurable/observable characteristics its possessor, leading to increased reproductive success. • Classifications are constantly updated as new methods are
◦ The base sequence of DNA The advantageous allele is inherited by members of the next discovered to infer relationships e.g. DNA sequencing, amino acid
◦ The base sequence of mRNA generation. As a result, over many generations, the new allele sequencing or immunological comparisons.
◦ The amino acid sequence of proteins increases in frequency in the population. • The binomial naming system names species by their genus and
• Gene technology has caused a shift in methods of investigating • Direction selection is a selective force that favours individuals species name.
genetic diversity from solely looking at observable characteristics with an extreme form of a trait and selects against phenotypes at • Phylogeny is the study of evolutionary relationships between
• Variation is caused by genetics & environmental factors. the other extreme. E.g. antibiotic resistance. Powerful antibiotics organisms.
• Variation can be investigated quantitatively within a species by apply a very strong selection force favouring individuals • In a phylogenetic diagram, branch
collecting random samples (to reduce bias), calculating a mean possessing resistance alleles. tips represent species at the end
value and the standard deviation of the data collected. Then • Stabilizing selection is a selective force that favours the of their specific lineage, branching
interpreting mean values and their standard deviations. phenotypes closest to the mean value of a trait. E.g. Human birth points represent common ancestors
◦ Means may vary, showing variation between populations weight. Babies that tend to the extremes of birth weight have & The closer the branches, the closer
◦ A large standard deviation indicates a large amount of higher mortality rates. the evolutionary relationship.
variation within a population • Adaptations may be anatomical, physiological or behavioural.

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PHOTOSYNTHESIS & RESPIRATION
CHEAT SHEET
Photosynthesis Anaerobic Respiration Aerobic Respiration
• Photosynthesis is the process in plants, • Respiration is the process, which occurs in living cells, that • If respiration is aerobic, pyruvate enters the mitochondrial
from which energy from sunlight is releases energy stored in organic molecules such as glucose. matrix by active transport.
used to convert inorganic molecules • The energy released during respiration is used to synthesise • Next, the link reaction occurs:
into organic molecules. molecules of ATP, which can be used as an immediate source of • Following the link reaction, the
• The light-dependent reaction occurs in energy. Krebs cycle occurs.
the thylakoids of the grana in chloroplasts • The first stage of respiration is glycolysis which occurs in the • The final stage of aerobic
◦ Photolysis of water requires light energy to break the bonds cytoplasm of cells. respiration is oxidative
between oxygen and hydrogen atoms ◦ There is a net yield of 2 pyruvate, 2 reduced NAD and 2 ATP phosphorylation.
2H2O Æ 4H+ + 4e- + O2 molecules • Reduced NAD and FAD donate
◦ Chlorophyll molecules absorb electrons to the electron transfer
light energy via photosystem II, chain in the inner mitochondrial
exciting a pair of electrons to a membrane. The release of energy
higher energy level, leaving the as the electrons pass down the
chlorophyll molecules ionized. electron transfer chain is used
The electron passes through an to create a proton gradient
electron transfer chain to produce across the inner mitochondrial
ATP, and reaches photosystem I. membrane into the inter-
◦ The electrons replace the membranal space. The proton
electrons lost in photosystem I when it absorbs light to gradient is used to synthesis ATP by oxidative phosphorylation,
reduce NADP with the protons created from photolysis catalysed by ATP synthase (chemiosmotic theory).
◦ The photoionized chlorophylls electrons in photosystem II are • Oxygen combines with the protons that have diffused through
replaced by the electrons from photolysis of water the ATP synthase channel and the electrons that have been
◦ Cyclic photophosphorylation only uses photosystem I, where passed along the electron transfer chain, acting as the final
the electrons are passed back to photosystem I rather than electron acceptor. It helps maintain the proton gradient for the
NADP via electron carriers, producing small amounts of ATP electron transfer chain to continue.
• The light-independent reaction occurs in the stroma of ½O2 + 2e- + 2H+ → H2O
chloroplasts • If oxygen is not available as the final electron acceptor, • Aerobic
◦ The Calvin cycle depends on the products from the light glycolysis can continue in anaerobic respiration. respiration
dependant stage • Glycolysis can continue if reduce NAD is reoxidised so that NAD produces 32
◦ The fixation of carbon dioxide is catalysed by RuBisCo is available to accept a hydrogen atom again. ATP. 30 more
◦ 5 out of every 6 TP molecules are used • In mammals, the lactate fermentation pathway is used: than anaerobic
to regenerate RuBP instead of producing respiration.
hexose sugars • Sugars such
• The rate of photosynthesis is limited by as glucose are
temperature and the availability of carbon not the only
dioxide, water & light energy. substances that
• The law of limiting factors states that at any can be used as
given moment, the rate of a physiological a respiratory
process is limited by the factor that is at its least favourable substrate.
value. • Lipids release
more energy than
carbohydrates, due to more carbon-hydrogen bonds
Substrate Process in respiration
Lipid Hydrolysed to fatty acids and glycerol.
Glycerol is phosphorylated and converted to triose
phosphate, which enters the glycolysis pathway
The fatty acid part is broken down into 2-carbon
fragments which are subsequently converted into
Lactate can be converted to glycogen in the liver or oxidised acetyl CoA, also generating reduce NAD & FAD
further to release energy, when oxygen is available. Protein Protein is hydrolysed to amino acids. In the liver, the
• Chromatography can be used to separate out photosynthetic • In plants and fungi, the ethanol fermentation pathway is used: amino group is removed (deamination), and the amino
pigments, identifying them by their Rf value ◦ pyruvate + reduced NAD → ethanol + carbon dioxide + group is converted to urea and removed in the urine.
oxidised NAD The remaining amino acid can then be converted to an
intermediate

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ENERGY, ECOSYSYEMS & NUTRIENT CYCLES
CHEAT SHEET
Biomass Nutrient Cycles The Use of Fertilisers
• Plants synthesise organic compounds from atmospheric, or • There is a finite supply of nutrients on Earth, which are recycled • Fertilisers can be used to provide plants with minerals,
aquatic, carbon dioxide. within natural ecosystems. particularly nitrates, to support their growth
• Most of the sugars synthesised by plants are used as respiratory • The Nitrogen cycle: • In agriculture systems, the harvesting of crops prevents the
substrates. The rest are used to make other groups of biological • The Phosphorus cycle: reintroduction of minerals to the soil
molecules, forming the biomass of the plant. • Natural ferilisers consist of dead and decaying remains of
• Biomass is the total mass of living material in a specific area at plants, animals and their waste
a given time • Artificial fertilisers are mined from rocks before being converted
• Dry biomass shows the chemical energy store in an organism into different forms with their composition tailored for specific
and can be measured by the process of calorimetry. A dry crops.
sample is weighed and burnt in pure oxygen within a sealed
chamber, the temperature increase of the fixed volume of water
is used to calculate the energy released. Effect of using Description
fertilisers
Production & Productivity
Reduced species Nitrogen-rich soils favour rapidly
• Gross primary production (GPP) is the total quantity of chemical
diversity growing species
energy stored in plant biomass, in a given area or volume.
• Net primary production (NPP) is the chemical energy store in
plant biomass after respiratory losses to the environment have Rainwater dissolves soluble nutrients
been taken into account Leaching (pollutes (e.g. nitrates) and carries them deep
◦ NPP = GPP – R waterways) into the soil and into waterways such as
◦ Where R represents respiratory loses to the environment streams, rivers and lakes.
◦ NPP, GPP & R use units of (kJ m-2 yr-1)
• The NPP is available for plant growth and reproduction. It is also
available for consumers in the food chain such as herbivores Nitrate levels increase in rivers and lakes
and decomposers. due to leaching. The increased plant
growth blocks light reaching the water
underneath the surface, killing plants
Eutrophication
at a lower depth. The population of
saprobiontic bacteria increase, respiring
and reducing oxygen levels, killing other
aerobic organisms like fish.

• Net production (N) is the total chemical energy consumers store


after energy losses to faeces, urine and respiration have been taken
Microorganisms in Nutrient Cycles • Eutrophication:
away from the chemical energy store of the ingested plant food • Microorganism play a vital role in nutrient cycles
◦ N = I - (F + R) Microorganism Role
◦ Where N is net production, I represents the total chemical
Certain types of fungi associate with
energy store in ingested food, F is the energy lost in faeces and
roots of plants to increase the surface
urine, and R is energy lost to respiration. All use units (kJ m-2 yr-1) Mycorrhizae
area for absorption of water and mineral
• Primary and secondary productivity is the rate of primary or
ions, including phosphate ions.
secondary production, respectively. It is measured as biomass in
a given area in a given time e.g. kJ ha–1 year–1 Free-Living Nitrogen- In the soil, they reduce nitrogen gas to
• The percentage efficiency of energy transfer from one tropic Fixing Bacteria ammonia.
level to another can be calculated as Mutualistic Nitrogen- Use nitrogen gas to produce amino
Fixing Bacteria acids
Break down dead organism to release
Saprobiontic organisms phosphate, ammonia or ammonium
• Farming practices increase the efficiency of energy transfer to compounds
increase yields by:
Free living in soil, oxidise ammonium
◦ Reducing respiratory loses in a human food chain e.g. reduce Nitrifying bacteria
ions into nitrites and nitrites into nitrates
movement of animals
◦ Simplifying food chains to reduce energy loss to non-human food Anaerobic denitrifying Use nitrates in respiration to produce
chains e.g. killing weeds and pest using herbicides and insecticides bacteria nitrogen gas

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RESPONSES, RECEPTORS, NEURONES & SYNAPSES
CHEAT SHEET
Responses Control of the Heart Rate Neurones & The Resting Potential
• All multicellular organisms need to respond to changes in their • Cardiac muscle is myogenic, meaning it can contract and relax • A myelinated motor neurone:
environment (stimuli) in order to survive without receiving signals from the nervous system • The resting potential is the
• Tropisms are a directional growth response in plants, in which the • The sinoatrial node (SAN) sends out difference in electrical charge
direction of the response is determined by the direction of the regular waves of electrical activity across the membrane while the
external stimulus to the left & right atrial wall causing neurone is at rest
• Plants respond to directional stimuli using specific growth factors, contraction. The electrical waves are • The sodium-potassium pump
which move to regions where they are needed from growing regions then passed onto the atrioventricular uses ATP to pump 3 sodium
• Indoleacetic acid (IAA) causes elongation node (AVN), then to the bundle of His, (Na+) ions out of the cell and 2
of shoot cells, while it also inhibits root
cell elongation in order to cause positive with a slight delay. The bundle of His potassium (K+) ions into the cell.
geotropism & phototropism. splits into the Purkynge tissue, causing The membrane is permeable to K+ but impermeable to Na+ ions.
• Taxis is the movement of an animal towards contraction of the left & right ventricles These factors allow an electrochemical gradient to be set up,
or away from a stimulus from the bottom up. with the cell negatively charged at -70mV.
• In kinesis animals change the rate of movement (turning or • The rate at which the SAN fires is controlled unconsciously by
speed) in order to move towards favourable conditions the medulla oblongata in the autonomic nervous system
• Taxis & kinesis are simple responses that can maintain a mobile
Stimulus Receptor Effect Transmission of Action Potentials
organism in a favourable environment.
• Reflexes are rapid responses that don’t require conscious thought. High Baroreceptors Medulla sends impulses along • Action potential are transmitted in non-myelinated axons
• Reflexes can quickly protect the body from blood in the aorta & parasympathetic neurones, using because when a depolarisation happens, it causes voltage-
harm, as it does not involve many synapses, they pressure carotid arteries acetylcholine to reduce the heart rate gated sodium channels to open further down the axon. By
use simple mechanisms and are localized to the the time the depolarisation has spread, part of the axon is
Medulla sends impulses along
part of the body where they occur repolarising
Low blood sympathetic neurones, using • In myelinated axons, action potentials only occur at the nodes
pressure noradrenaline to increase the heart of Ranvier, with charge diffusing along the cell where myelin is
Receptors rate present (saltatory conduction).
High Chemoreceptors • Factors affecting transmission speed:
• Sensory receptors are specialised cells in the nervous system that Medulla sends impulses along
blood O2, in the aorta,
detect physical stimuli and convert them into electrical signals (the
pH or low carotid arteries
parasympathetic neurones, using Faster Slower
generator potential) acetylcholine to reduce the heart rate Myelination Myelinated Unmyelinated
• Sensory receptors tend to be specific to one type of stimulus Co2 & medulla
because they have specialised structures that are specific to one Medulla sends impulses along Axon Diameter Wider Narrower
type of physical property Low blood
sympathetic neurones, using Warmer
• Pacinian corpuscles detect changes in pressure O2, pH or Temperature Colder
noradrenaline to increase the heart (Until Denaturing)
in the skin. high Co2
rate
• Increases in pressure cause a deformation of
the concentric rings of the Pacinian corpuscle,
opening stretch-mediated sodium channels in
Action Potentials Cholinergic Synapse
the membrane. Sodium ions enter the sensory neuron, causing a • Structure of a synapse:
generator potential which can trigger an action potential • When the neurone receives an • At a cholinergic synapse (acetylcholine is the neurotransmitter),
impulse from sensory receptors, an action potential arrives at the pre-synaptic knob,
sodium channels on the dendrites
Photoreceptors open, leading to the movement
depolarising the membrane and causes voltage-gated
calcium ion channels to open. The influx of Ca2+ ions causes
of Na+ ions into the cell causing the synaptic vesicles to fuse with the membrane, releasing
• The retina contains photoreceptors depolarisation. If this depolarisation
which detect light - rods and cones. the neurotransmitter into
reaches the threshold potential it the synaptic cleft. The
Rod cells Cone cells activates voltage-gated sodium neurotransmitter diffuses and
channels causing an action potential. binds receptors on the post
Detect light across the middle of Three types of cone cells,
which respond to red, green, After Voltage-gated sodium ion synaptic membrane, causing an
the visible light spectrum channels close, and voltage-gated potassium channels open,
and blue light action potential.
Comparing the responses from causing Repolarisation as K+ ions leave the cell. Outward • Acetylcholinesterase breaks
More sensitive to low light diffusion of K+ ions causes hyperpolarisation and the voltage-
each type of cone receptor down acetyl choline in the cleft.
intensities than cones gated potassium channels close. Finally, the Sodium-potassium
allows for colour vision • The synapses can be excitatory if
Use the pigment rhodopsin to Use the pigment iodopsin to pump returns the cell to the resting membrane potential. the neurotransmitter opens Na+
detect light detect light • Action potentials are an all or nothing response because channels or inhibitory if the neurotransmitter opens chloride or
More abundant than cone cells Fewer numbers than rod cells once the threshold is reached each action potential always potassium channels causing hyperpolarisation.
Located more towards the Concentrated at the fovea. depolarises the axon to the same voltage by voltage-gated • Spatial summation is when action potentials from multiple
periphery of the retina. Not Fewer at the periphery of the sodium channels. presynaptic neurones are added together in a post-synaptic
present at the fovea retina • The refractory period is the period in an action potential where neurone
Multiple rod cells connect to a Cone cells connect to their the axon can’t be depolarised to initiate a new action potential. • Temporal summation is when multiple action potentials from
single bipolar cell own bipolar cell It limits the frequency of action potentials and ensures action a single presynaptic neurone are added together in a post-
Provide poor visual acuity Provide good visual acuity potential are discrete & only travel in one direction. synaptic neurone over time.

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MUSCLES & HOMEOSTASIS
CHEAT SHEET
Neuromuscular Junction Muscle Contraction Homeostasis
• Structure of the neuromuscular • The sliding filament theory describes how • Homeostasis is the maintenance of a constant internal
junction: muscle contraction occurs environment despite internal or external changes.
• When an action potential reaches • An action potential travels into the muscle • Temperature & pH are important to regulate to allow optimum
the junction, voltage-gated calcium fibre via T tubules, causing release of enzyme activity and rate of metabolic reactions.
channels open, causing calcium ions calcium ions from the sarcoplasmic • Water potential is important to regulate to prevent cells bursting
to diffuse into the neurone. Synaptic reticulum. The calcium ions bind to the or shrinking.
vessels to fuse with the presynaptic tropomyosin molecules and cause them • Glucose concentration is important to regulate to allow cells to
membrane and release acetylcholine into the synapse. It diffuses to move, exposing the myosin binding have access to the substrate for respiration, whilst preventing cell
across the synapse and binds with receptors on the muscle cell site on the actin filament. Myosin attaches to actin forming a damage by dehydration caused by high concentrations.
surface membrane, opening sodium channels. The muscle fibre actin-myosin cross-bridge. ATPases hydrolyse ATP to detach the • Negative feedback is the body’s mechanism for reversing a
depolarisation causes an action potential and muscle contraction. myosin head, allowing reattachment at a further site. This cycle change so that it returns back to the optimum. The stages involve:
• Acetylcholinesterase breaks down acetyl choline continues, causing sarcomeres to shorten.
• Neuromuscular junction & cholinergic synapse differences • When nervous stimulation stops, Ca2+ ions are actively
transported back into the sarcoplasmic reticulum using energy • Positive feedback is a deviation from the optimum which causes
Neuromuscular Junction Cholinergic Synapse from ATP hydrolysis. This allows tropomyosin to block the actin changes resulting in an even greater deviation from the norm. This
Only excitatory Can be excitatory or inhibitory filament from binding to myosin and muscle contraction stops. is usually harmful due to the large, unstable change in the body.
Links neurones to muscle Links either neurones to neurones • ATP can be generation via aerobic or anaerobic respiration
or neurones to other effectors • Phosphocreatine generates ATP quickly by adding phosphate to
a molecule of ADP released by the contracting muscle Control of Blood Glucose Concentration
The action potential ends here Another action potential may
• Insulin is a hormone released from β-cells in the pancreas
be generated along the post-
synaptic neurones Communication Systems when blood glucose concentration rises in order to lower the
concentration back to its optimum via negative feedback.
Only motor neurones are Intermediate, motor and sensory • The neuronal system uses neurones to carry signals very rapidly • When insulin binds to an insulin receptor, vesicles of glucose
involved neurones may be involved through the body to produce short-term responses transporters fuse with the plasma membrane to allow more glucose
Acetylcholine binds to receptors Acetylcholine binds to receptors • The hormonal system uses blood to carry hormones from to enter the cell. The cell also uses more glucose in respiration and
endocrine glands to target cell with the specific receptors. This activated enzymes covert glucose into glycogen (glycogenesis).
on the membrane of the muscle on membrane of post-synaptic • Glucagon is a hormone released from α-cells in the pancreas in
usually produces long-term responses.
fibre neurone response to low glucose concentration in order to increase the
◦ Peptide hormones are made of amino acids and must bind to
receptors on the cell surface, activating second messengers concentration back to its optimum. It does this by:
Skeletal Muscles which control transcription.
◦ Steroid hormones are formed from lipids and soluble in the
◦ Activating enzymes which break down glycogen into glucose
(glycogenesis).
• Muscles act in antagonistic pairs against an incompressible plasma membrane, therefore entering cells and binding to ◦ Producing glucose from other molecules
skeleton to allow movement ◦ Activating enzymes that convert glycerol (from lipids) and
• Skeletal muscle is made up of fibres called myofibrils, which in proteins to enter the nucleus and have an effect on the DNA.
amino acids into glucose (gluconeogenesis)
turn are made up of many repeating units, called sarcomeres • Adrenaline is released by the adrenal glands in times of stress and
• Myofibrils are made up of two types of protein filaments, the
thinner actin and the thicker myosin
Diabetes increases blood glucose concentration in anticipation of increased
activity.
• Diabetes is a condition where the concentration of glucose • Adrenaline binds to adrenaline receptors which activates adenyl
in the blood cannot be controlled effectively. It can lead to cyclase. This converts ATP into cAMP, which acts as a second
hyperglycaemia after meals and hypoglycaemia after exercising. messenger to activate protein kinase. Protein kinase converts
• Type 1 diabetes is caused by an autoimmune attack on the β-cells glycogen into glucose.
of the pancreas, so the body cannot produce insulin. It can be
treated by insulin injections.
• Type 2 diabetes is caused because the body does not produce The Role of the Kidneys in Osmoregulation
enough insulin & the insulin receptors become less responsive. It
Slow-Twitch Fast-Twitch can be treated by lifestyle changes (losing weight & exercising), • Osmoregulation is maintaining a constant water potential of the
Muscle Muscle drugs to stimulate insulin production and reduce glucose blood, despite changes in the level of water and salt
absorption and insulin injections in severe cases. intake.
Type of Activity Endurance Burst of activity • The kidneys are made if nephrons which help filter
Contraction Details Contracts slowly Contracts quickly the blood. The blood undergoes ultrafiltration at
and for longer
Fatigues slowly
and then relaxes
rapidly
The Role of the Hypothalamus in the glomerulus due to the smaller diameter of the
efferent arteriole than the afferent arteriole, creating
Mitochondria Density High Low Osmoregulation high hydrostatic pressure.
• The filtrate passes into the Bowman’s capsule and
Type of Respiration Aerobic Anaerobic • The hypothalamus contains osmoreceptors which signal to travels around the entire nephron, where certain ions
specialised neurosecretory cells. A fall in water potential causes the and water are reabsorbed into the blood whilst the
Concentration of High concentration Low concentration release of antidiuretic hormone (ADH) from the pituitary gland. remaining filtrate is excreted as urine.
Myoglobin • ADH travels in the blood to the kidneys, attaching to ADH • Sodium is actively transported out of the proximal
Glycogen & Small Large receptors, activating the intracellular enzyme phosphorylase. This convoluted tubule and into the blood
Phosphocreatine Stores causes vesicles containing aquaporins to fuse with the plasma • Glucose & amino acids are co-transported out of the
membrane, reducing water loss by increasing the permeability of proximal convoluted tubule via sodium ions diffusing
Muscle Colour Dark Light the collecting duct and distal convoluted tubule. into the epithelial cells.

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INHERITANCE
CHEAT SHEET
Genes & Alleles Linkage Complementary Epistasis Example
• The genotype is an organism’s genetic composition. • Autosomal linkage occurs if two or more genes are located • An example of complementary epistasis is in the inheritance of
• The phenotype is an organism’s characteristics, often visible, on the same autosome (non-sex chromosome). The two coat colour in mice.
which occur as a result of both its genotype and the impact of genes are less likely to be separated during crossing over, A/a is the epistatic gene
its environment. resulting in the AA & Aa produces coloured fur
• Genes are a sequence of DNA that code for a polypeptide. alleles of the aa produces no pigment-white fur
• Genes can exist in 2 or more different forms called alleles. linked genes B/b is the hypostatic gene
• In diploid cells, chromosomes occur in pairs called homologous being inherited BB & Bb encodes for black coloured fur
chromosomes. This means the alleles at a specific locus can together. bb produces encodes for agouti coloured fur
be homozygous if they are both the same type of allele or • For example,
heterozygous, if both the alleles are different. if GN & gn
• An allele is dominant if it is expressed in the phenotype of an are linked in
heterozygous individual. heterozygous
• An allele is recessive if it is not expressed in the phenotype of grey bodies and
an heterozygous individual. normal winged
• An allele is codominant if it is expressed, along with the other individuals
allele, in the phenotype of a heterozygous individual. (GgNn), you get
a 3:1 phenotypic
ratio
Monohybrid Inheritance • Sex linkage
• Monohybrid inheritance is occurs when
the inheritance of a single there is a
gene. gene on the X
• A test cross be used to work chromosome,
out the unknown genotypes not present
of individual organisms. on the Y
• In the test cross the unknown chromosome.
genotype is crossed with • This means that
a homozygous recessive males are more
individual. If all the likely to exhibit This produces a 9:4:3 phenotypic ratio
offspring have the dominant recessive disorders like haemophilia
phenotype, the unknown
Chi-squared Test
genotype was homozygous
dominant for the trait. If
Epistasis • If during an experiment, an unexpected result is obtained, we
half the offspring have the • Epistasis is the interaction between two non-linked genes which need to determine whether this unexpected result is due to
recessive phenotype, the causes one gene to mask the expression of the other in the chance or attributable to a specific cause (significant or not).
unknown genotype was phenotype. • The chi-squared test is a type of statistical test that allows us
heterozygous. • Epistatic genes can work antagonistically (against each other) to calculate whether the difference between the results we
or in a complementary fashion. observe and the results we expected is significant.
• When a gene suppresses another gene, the gene doing the • The null hypothesis assumes that any difference that occurs
Dihybrid Inheritance suppressing is called the epistatic gene. The gene which is between the expected and observed results is due to chance.
• Dihybrid inheritance being suppressed is called the hypostatic gene.
• Antagonistic epistasis can be either recessive or dominant. Chi-Squared Test
involves the inheritance
of two different • In dominant antagonistic epistasis, the expression of the O is the observed numbers (no units)
characteristics dominant allele of the epistatic gene prevents the expression E is the expected numbers (no units)
simultaneously. of the hypostatic gene. This means that any genotypic • The value is then compared to a critical value, found from
• During a dihybrid cross, combination with either one or two of the dominant alleles a chi-squared table by looking at the p-value and degrees of
alleles are independently for the epistatic gene will suppress the expression of the freedom
assorted during gamete hypostatic gene. ◦ The degrees of freedom is the number of categories (or
formation. A punnet • Recessive epistasis occurs when the presence of two copies of classes) minus one
square can show all the recessive allele at the first locus prevents the expression of ◦ The p-value is normally taken as 0.05, meaning that there is a
possible genotype and another allele at a second locus. 5% probability that the result is due to chance only
phenotypes of offspring: • In complementary epistasis, the two genes work together, • If < critical value, then the results are not significant (are due
• In a dihybrid F1 generation cross, the phenotypic ratio for the for example, they may encode two enzymes that work in to chance). The null hypothesis is accepted.
F2 generation is always 9:3:3:1. succession. • If > critical value, then the results are significant (are
attributable to a specific cause). The null hypothesis is rejected.

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POPULATIONS, EVOLUTION & ECOSYSTEMS
CHEAT SHEET
Populations The Effect of Selection on Allele Ecosystems & Population Size
• A species is a is a group of individuals that have common ancestry
and are capable of breeding with each other and producing fertile
Frequencies • A community is all of the populations of different species living
and interacting in a place at the same time.
offspring. • Predation, disease and competition means that not all • An ecosystem is the dynamic interaction between all the living
• Species exist as one or more populations individuals within a population survive to get a chance to (biotic) and non-living (abiotic) factors in a given area.
• A population is a group of organisms of the same species occupying reproduce. This differential survival and reproduction is the • Within an ecosystem, every organism occupies a specific
a particular space at a particular time that can potentially interbreed. process by which natural selection acts. ecological niche
• A gene pool is all of the alleles of all the genes of all the individuals • The organisms with phenotypes that provides a • A niche includes all the abiotic and biotic conditions of the
of a population selective advantage are more likely to reproduce environment which organisms are adapted to.
• Allele frequency is the proportion of the individuals that have and thus pass on their favourable alleles to the next • The carrying capacity is the maximum population size that can
one copy of an allele generation. This means that the proportional of be maintained over a period in a particular habitat.
• Allele frequencies change in response to selection pressures by individuals with the favourable allele will increase in • The limiting factors of the carrying capacity include abiotic factors:
natural selection between and within populations. the next generation (increase the allele frequency) ◦ Temperature & pH - each species has its optimum levels, and
within the population. The population evolves. deviations from this optimum reduces population growth
• Evolution is the change in allele frequencies in a ◦ Light - low light levels reduce the carrying capacity of
Population Genetics population over time.
• Directional selection results in the increase of a
producers, reducing the population size of consumers
◦ Water - low water availability reduces the population size
• Populations can be imagined as gene pools consisting of all the favoured allele over time • The limiting factors of the carrying capacity include biotic factors:
alleles of all the genes of all the individuals in the population • Stabilising selection maintains genetic ◦ Interspecific competition (between different species)
• Populations change and evolve as allele frequencies change polymorphisms in the population ◦ Intraspecific competition (within the same species)
across generations • Disruptive selection also maintains genetic ◦ Predation
• The frequency of alleles of a particular gene in a population can polymorphisms in the population • The size of a population can be estimated by:
be determined using the equation encompassed by the Hardy- ◦ Randomly placing quadrats, or quadrats along a belt transect, for
Weinberg Principle slow-moving or non-motile organisms. Can count the number of
• Hardy-Weinberg equations: p+q=1
p2 + 2pq + q2 = 1
Speciation individuals of each species in the quadrat or percentage cover.
◦ The mark-release-recapture method for motile organisms.
• Where: • Speciation is the evolution of new species from existing ones.
p is the frequency of dominant allele • Reproductive isolation followed
q is the frequency of recessive allele by accumulation of genetic
p2 is the proportion of individuals that are homozygous dominant (AA) changes through natural selection It assumes there is no deaths, births, migration, marking has
q2 is the proportion of individuals that are homozygous recessive (aa) can result in the formation of a no effect and enough time for the animals to mix.
2pq is the proportion of individuals that are heterozygous (Aa) new species. This is because the
• Using the equations, the allele frequencies of a specific gene, populations become genetically
genotypes & phenotypes in a population can be estimate. distinct with different allele combinations, making them unable
to breed to produce fertile offspring.
Succession
• The Hardy-Weinberg Principle assumes that the proportion • Succession is the variety of processes that occur over time in a
of dominant and recessive alleles of any gene in a population • Allopatric speciation is the formation of two species from an
original one due to geographical isolation. species that occupy a certain area.
remains the same from one generation to the next. The • Primary succession is the progressive colonisation of bare rock
conditions for this are that: • Sympatric speciation is the formation of two species from one
original species due to reproductive isolation whilst occupying or other barren terrain by living organisms.
◦ The population is large ◦ The area is first colonised by the pioneer species, changing the
◦ There are no mutations the same geographical location. This can be by:
◦ Temporal variation - breeding seasons at different times. abiotic factors to be less hostile for other species to survive.
◦ There is no selection ◦ Different species may be present at each stage, who change
◦ Mating is random within the population ◦ Behavioural variation - mutations affecting courtship.
◦ Mechanical variation - anatomical differences preventing mating. the environment so that it becomes more suitable for other
◦ The population is isolated species with different adaptations but less suitable for the
◦ Gametic variation - results in genetic or biochemical incompatibility.
◦ Hybrid sterility - cannot produce viable gametes. previous species - changing biodiversity.
Variation ◦ The climax community is when a stable state is reached,
where there is high biodiversity and a number of new species.
• Within any population of a species there will be phenotypic
variation
Genetic Drift • Secondary succession is the recolonization of an area after an
earlier community has been removed or destroyed.
• Characteristics that show continuous variation are normally • Genetic drift describes change in allele frequencies in the gene
polygenic (determined by many gene loci that have additive pool of a population (evolution) due purely to chance events
effects on each other).
• Characteristics that show discontinuous variation are usually
and not selection pressures.
• Due to the random nature of gamete production and fertilisation,
Conservation
monogenic (determined by a single gene loci). certain alleles may increase in the population due to chance. • Conversations is the maintenance of biodiversity, including
• Variation is due to genetic and environmental factors. • The effect of genetic drift is more prominent within small diversity between species, genetic diversity within species and
• The main source of genetic variation is mutations, which can populations because chance has a greater influence, whereas in maintenance of a variety of habitats and ecosystems.
produce different alleles of genes. larger populations the random fluctuations even out across the • Conservation involves active human involvement and is
• Further sources of genetic variation include meiosis whole population. often orientated around managing a community by halting
(independent assortment and crossing over) and the random • A genetic bottleneck is when an event causes a big reduction in succession, to preserve species that would be extinct by the
fertilisation of gametes during sexual reproduction to create a population’s size and gene pool. Certain alleles may be due to climax community being established.
new allele combinations. the event and the population will also be subject to genetic drift. • The rate of growth of the human population creates an
• The environment can influence the way an organism’s genes • When a new population is established by a small number of increasing demand for raw material and food. A balance
are expressed. This can be because of biological factors such as individuals, the founding population will have low genetic diversity between conversation and human needs is necessary in order to
predators or non-biological factors such as sunlight. and be heavily influenced by genetic drift. This is the founder effect. maintain the sustainability of natural resources.

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STEM CELLS, MUTATIONS, GENE REGULATION, CANCER & GENOME PROJECTS
CHEAT SHEET
Mutations Transcription Factors Tumours
• Gene mutations are changes to the base sequence or quantity • In eukaryotes, transcription of target • Abnormal and fast cell division of mutant cells can form a
of DNA within a gene or section of DNA. genes can be regulated by DNA-binding tumour.
• Gene mutations occur spontaneously during the process of proteins (transcription factors). They can
DNA replication. be help RNA polymerase bind (activators) Benign Tumours Malignant Tumours
• The mutation rate is increased by mutagenic agents, which are or prevent it binding (repressors). Slow growth rate Faster growth rate
chemical, physical or biological agent that causes mutations e.g. • The steroid hormone oestrogen, released from the ovaries in Cells remain well- Cells tend to de-differentiate and
UV light women, can initiate transcription in target cells. differentiated become unspecialised
Type of Tumours are surrounded by Tumours are not surrounded by a
Description
Mutation
Addition Addition of one or more nucleotides
Epigenetics a capsule made of dense
tissue (compact structure)
capsule

Deletion Removal of one or more nucleotides • Epigenetics - changes in DNA that alter the expression of genes Cells produce adhesion Cells stop producing adhesion
without changing the base sequence of DNA itself. It involves molecules molecule. Can spread through the
Substitution A nucleotide is replaced by a different nucleotide the addition of chemical tags onto DNA or histones.
• The epigenetic changes can body (metastasis)
Inversion A sequence of bases is separated and then
reattached in the inverse order regulate transcription by changing Can usually be removed by Chemotherapy and radiotherapy are
how tightly the chromatin is packed surgery. used, which specifically target and
Duplication One or multiple bases are repeated
(chromatin remodelling), affecting kill rapidly dividing cells.
Translocation A piece of DNA breaks off and doesn’t reattach to RNA polymerase accessibility.
itself or its homologous pair. • DNA methylation prevents transcription by preventing
• Some mutations may only affect a single codon, changing a transcription factors from binding & chromatin condensation.
single amino acid in a protein, therefore the protein may remain • Acetylation of histones promotes transcription by decreasing
functional. Other may have no effect on protein structure due to the attraction between DNA and histones, making chromatin
the genetic code being degenerate. more loosely packed.
• Mutations such as insertions and deletions can cause frame • The epigenetic changes in gene function can be heritable.
shifts, changing all the codons and amino acids downstream • Epigenetic changes occur during development but can also be
from the mutation. This results in a unfunctional protein. caused by environmental factors e.g. smoking.

Stem Cells Regulating Translation Genome Projects


• Stem cells are undifferentiated cells that are able to express all • In eukaryotes and prokaryotes, the translation of • DNA sequencing is the process used to determine the precise
of their genes and divide by mitosis. mRNA can be inhibited by RNA interference (RNAi). sequence of nucleotides in a length of DNA.
• During development, the stem cells undergo cell differentiation. • RNAi involves the degradation of the mRNA, • The technique whole-genome shotgun sequencing is used.
This is the process by which cells become specialised for reducing the gene’s level of expression. Small The genome is cut into smaller fragments and individually
different functions. interfering RNA (siRNA) can carry out this process. sequenced. The entire genome is then reassembled by
• Fully developed cells are unable to divide by mitosis. computer algorithms, which align sections of DNA that overlap.

Stem Cell Ability


Totipotent Can divide and differentiate into any type of cell.
Pluripotent Can self-renew and differentiate into any type of
cell except the cells that make up the placenta.
Oncogenes & Tumour Suppressor Genes
Multipotent Can only differentiate and divide into a limited • Oncogenes are genes that stimulate cell division e.g. they may
encode growth factors or cell cycle regulators.
number of cell types • Many cancers are found to have cells with abnormal DNA
Unipotent Can only differentiate into a single type of cell methylation (epigenetic changes). Detecting these changes can
e.g. cardiomyoblasts can only differentiate into help diagnose, while reversing these changes may help cure • Next-generation sequencing methods have recently been
cardiomyocytes. these diseases. developed which are faster, more automated and cheaper.
• Oncogenes can be hypomethylated in the promoter regions • Whole-genome sequencing allows the genomes of many
• Totipotent stem cells are only present in to upregulate transcription and expression to cause excessive individuals within a species, to be compared.
mammals in the first few cell divisions of an proliferation in a tumour. • This can have important medical implications by looking for
embryo. During development, totipotent cells • Tumour suppressor genes are genes that prevent tumour associations between substitution mutations (single nucleotide
become specialised by expressing different formation by repairing DNA damage, regulating cell division polymorphisms, SNPs) and susceptibility to disease.
genes and producing different proteins. and promoting apoptosis. • In simpler organisms, such as pathogens, genome sequencing
• Induced pluripotent stem cells are unipotent • Tumour suppressor genes can be hypermethylated in the allows the proteome to be determined. This can help determine
stem cells that have been reprogrammed promoter region to prevent transcription, allowing increased potential cell surface proteins that act as antigens, which can be
to become pluripotent by using protein cell divisions with a higher mutation rate. Resulting in cancerous used in vaccine development.
transcription factors to express genes tumours. • In more complex organisms, determining the proteome is
associated with pluripotency. • Oestrogen binds to a transcription factor, which activates genes more difficult due to the presence of introns, regulatory
• Pluripotent stem cells can be used to replace to promote cell division. Increased oestrogen concentrations in genes affecting the expression of other genes & the effect of
cells and treat human disorders like leukaemia the adipose tissue in the breast of post-menopausal women has epigenetic changes.
and diabetes. been linked to breast cancer development.

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GENE TECHNOLOGIES
CHEAT SHEET
Genetic Engineering Marker Genes Gene Therapy
• Genetically modified organisms are organisms that have had • Transformed bacteria can be detected using marker genes. • Gene therapy is the mechanism by which genetic diseases are
their DNA altered through recombinant DNA technology. • The plasmid contains 2 marker genes treated or cured by masking the effect of a faulty allele through
• Recombinant DNA technology involves the transfer of ◦ The first marker gene is used to identify which bacteria have the insertion of a functional allele.
fragments of DNA from one organism, or species, to another. successfully taken up a plasmid. It is a antibiotic resistance • Firstly, a healthy allele from healthy cell tissue is isolated. The
• Transgenic organisms can successfully express a gene from gene, so transformed bacteria are identified by growing on a allele is inserted into the cells using vectors.
any organism, as the genetic code and mechanism of protein medium containing the antibiotic • If the mutated allele is recessive, a dominant allele is inserted. If
production (transcription and translation) are universal. ◦ The second marker distinguishes between bacteria that the mutated allele is dominant, DNA is inserted into the middle
• DNA fragments are created by: have taken up an empty or recombinant plasmid. When a of the allele to silence it.
recombinant plasmid is formed, the desired gene is inserted • Somatic therapy involves altering the alleles in body cells. The
◦ Using restriction endonucleases to cut at recognition sites in the middle of the second marker gene making it non- altered allele is not passed onto the offspring
near the desired gene functional. Therefore, bacterial cells that express the second • Germ-line therapy altering the alleles in the sex cells. The
◦ Converting the mRNA of the desired gene to cDNA, marker gene do not contain the recombinant plasmid. altered alleles are passed onto offspring
using reverse transcriptase. Double stranded DNA is then • The second marker gene has easily identifiable phenotypes such as: • Germ-line therapy has ethical concerns such as the potential of
synthesised using DNA polymerase ◦ Producing a fluorescent protein designer babies or the potential impact gene insertion could
◦ Synthesising the gene using a gene machine. The gene ◦ Providing resistance to a different antibiotic have on other genes.
sequence is determined by the primary protein structure. ◦ Producing an enzyme whose action can be identified.
• The isolated gene is then modified by the addition of a
promoter and a terminator region. Genetic Fingerprinting
• A vector is used to transfer the isolated gene into a host cell.
This is mainly a plasmid.
Polymerase Chain Reaction (PCR) • Genetic fingerprinting is a method used to produce a specific
• Restriction endonucleases are used to cut plasmids open, • PCR is a method of amplifying DNA by pattern of DNA bands from an individual’s genome.
creating sticky ends. The same endonuclease isolates the gene, artificial replication in vitro. • The non-coding regions of DNA contain short, repeating
so the sticky ends of the desired gene and the plasmid are • It requires: DNA sample of around 10,000 sequences called variable number tandem repeats (VNTRs).
base pairs, nucleotides, Taq polymerase • VNTRs are found at many locations in the genome. In every
complementary. DNA ligase joins them together. (stable at high temperatures), primers individual, they vary in length and the in the number of repeats
• To reintroduce the desired DNA into bacterial cells, the complementary to 3’ of DNA sample and a at different loci. Therefore, the probability of two individuals
recombinant plasmid must pass through the cell surface thermocycler to carry out the automated having the same VNTRs is very low.
membrane of a bacterial cell (transformation). process. • The steps in DNA fingerprinting include:
• Transformation involved mixing the bacteria and plasmids in ◦ Extraction of DNA & amplification using PCR
a medium containing Ca2+ ions, which increased membrane ◦ DNA digestion using specific restriction endonucleases,
permeability. Changes in temperature also make the bacterial leaving the VNTRs intact
cell surface more permeable.
• The transformed host cells can be cultured as an in vivo method
The Use of Genetically Modified ◦ Separation of DNA fragment by gel electrophoresis. Smaller
to amplify DNA fragments. Organisms (GMOs) fragments travel faster and therefore move further down the gel
◦ Hybridisation of the VNTRs at specific (complementary) base
sequences with Radioactive or fluorescent DNA probes
GMO Benefits Issues
Diagnosing Heritable Conditions Plants • Herbicide resistance • Development of superweeds
◦ Development. The banding pattern can then be visualised as
radiation, emitted by fragments, exposes X-ray film (placed
• Genetic screening is the study of an individual’s DNA to identify • Pest resistance • Pests or pathogens evolving over the gel) and reveals their final positions.
whether an individual possesses alleles associated with a • Disease resistance resistance
genetic disease. • Drought resistance • Potential transfer of antibiotic
• Genetic screening can be carried out using DNA probes which • Extended shelf-life resistance to pathogens in
• Increased nutrition the intestine of the consumer
are short sections of DNA that are complementary to a known • Farmers must repeatedly buy
DNA sequence (e.g. a mutant allele). The probes are labelled seeds
using fluorescence or radioactivity. • The DNA profiles can be compared to determine genetic
• The labelled DNA probe, which is complementary to a mutant Animals • Disease resistance • Harmful side effect to relationships by looking for similarities in the banding pattern.
• Increased growth animals • DNA profiles can also be used in:
allele, is mixed with denatured DNA samples from a patient. rates e.g. continuously • Ethical issue of insertion of
If the patient has the mutant allele, the probe will bind to the ◦ Forensic science investigations -
producing growth human genes comparing the DNA profiles of
complementary base sequence in one strand (hybridization). hormones • Most GM animals die during
The hybridized DNA can be detected using radiation or suspects and DNA at the crime
• Used to produce development scene.
fluorescence. medicinal drugs and ◦ Medical diagnosis - DNA profiles
• DNA probes can be used to screen patient for different genetic proteins can identify individuals at risk of
diseases, to see if they are carriers for a recessive mutation or Bacteria • Used to produce • Potential antibiotic developing specific diseases, as
to see if they are at risk of developing a disease like cancer, by medicine e.g. human resistance genes being some VNTRs are correlated with
having mutated oncogenes or tumour suppressor genes. insulin which is cheaper transferred to pathogens an increased risk of disease e.g.
• Genetic screening also allows medicine or treatments to be and has a lower risk of • May result in the production Huntington’s disease.
precisely tailored to an individual’s genotype (personalised rejection and infection of more lethal pathogens ◦ Animal and plant breeding - DNA
medicine). than pig insulin profiles are used to prevent
• After receiving the results of genetic screening, individuals • The risk of GM bacteria can be reduced by modifying the inbreeding by not breeding individuals with similar profiles.
may require genetic counselling. This is a service that provides bacteria so that they are unable to produce an essential nutrient ◦ Paternity determination - half the DNA profile of the child
support, information and advice about genetic conditions. or amino acid and cannot survive outside the lab. should match the father.

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