Aqa A Level Biology Theory v1
Aqa A Level Biology Theory v1
ORG
AQA A LEVEL
BIOLOGY
SUMMARIZED NOTES ON THE THEORY SYLLABUS
AQA A LEVEL BIOLOGY
1. Biological molecules
1.1. Carbohydrates
Most carbohydrates are polymers made of long chains of
monosaccharide monomers
Monosaccharide: a molecule consisting of a single sugar
unit. It is the simplest form of carbohydrate and cannot Cellulose is found in the cell wall of plant cells and is
be hydrolysed further. It has a general formula of made from β - glucose units that form β -1,4 glycosidic
(CH2 O)n . bonds. Alternate β - glucose molecules are rotated 180
degrees in order to form these bonds. Hydrogen bonds
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Lipids
Triglycerides and phospholipids are two types of lipid
Triglycerides are made up of one molecule of glycerol Triglycerides are energy-storage molecules because
with three fatty acids attached to it The long hydrocarbon tails contain a lot of chemical
Fatty acid chains are long hydrocarbon chains with a energy
carboxylic group (-COOH) at one end. The glycerol is an They are insoluble so they don’t affect the water
alcohol containing 3 carbon atoms wherein each carbon potential of the cell
atom is attached to a hydroxyl (-OH) group The fatty acids are hydrophobic (water-repelling) so
A condensation reaction between glycerol and a fatty acid they clump together in droplets with the fatty acid
forms an ester bond (happens three times in a tails on the inside
triglyceride) Phospholipids make up the cell membrane bilayer
because
The phosphate group ‘heads’ are hydrophilic, and the
fatty acids are hydrophobic so they form a double
layer with the phosphates on the outside and the fatty
acids on the inside
Proteins
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enzyme. This means that the enzyme molecule will group and the ribose sugar. Many of these forms a sugar-
undergo conformational changes as the substrate phosphate backbone
combines with enzyme’s active site, forming the
enzyme-substrate complex.
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pH = -\log \[H^+\]
ATP Sodium ions (N a+ ) are used in co-transporters to
transport glucose and amino acids across cell
ATP stands for adenosine triphosphate membranes
It is a nucleotide derivative (it has a similar structure to 3−
Phosphate ions (P O4 ) are used in ATP and DNA
Water
Water is vital for life and is a major component of cells
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The nucleus contains chromosomes which are made Also can be used to isolate unwanted chemicals in the
from linear DNA bound to proteins cell
It also contains one or more nucleoli
The nucleus controls the cell’s activities by controlling Cell specialisation and organisation
the transcription of DNA
The nuclear pores allow RNA to move out of the In multicellular organisms, cells become specialised to
nucleus and into the cytoplasm carry out specific functions
The nucleolus is the site of ribosome production Different types of cells have different structures to help
Mitochondrion: an oval shaped organelle with a double them carry out their functions
membrane Cells are organised into tissues, tissues into organs, and
inner membrane is folded to form cristae organs into organ systems
space inside is called the matrix Specialised cells of the same function group together
Mitochondria are the site of aerobic respiration into tissues
Chloroplast: only found in plant and algal cells Tissues of the same function form organs
Surrounded by a double membrane and contains Organs group with other organs to form organ
structures called thylakoid membranes systems eg the circulatory system
A stack of thylakoid membranes is called a granum,
and grana can be joined by thin membranes called
lamellae
Structure of prokaryotic cells
The fluid around the grana and lamellae is called the
stroma Cell wall: rigid structure that provides support to the cell
Chloroplasts are the site of photosynthesis made of murein (polymer of polysaccharides and
Golgi apparatus: an organelle made of a stack of flattened polypeptides)
sacs (called cisternae) Capsule: some bacteria have a capsule made of slime
processes and packages lipids and proteins by adding Helps protect bacteria from attack and allows groups
carbohydrate groups to them of bacteria to stick together
produces secretory enzymes Cell-surface membrane: phospholipid bilayer similar to a
forms lysosomes eukaryotic cell
The Golgi apparatus is surrounded by golgi vesicles Circular DNA: prokaryotes don’t have nuclei or proteins
that transport and store lipids associated with DNA - just a loop of circular DNA free in
Lysosome: a Golgi vesicle that contains digestive enzymes the cytoplasm
(lysozymes) eg proteases and lipases Plasmids: small extra loops of DNA that carry genes that
Can be used to break down material ingested by the can help with survival eg antibiotic resistance
cell or break down worn-out cell components not always present in prokaryotes and some
Also can release enzymes to the outside of the cell prokaryotes can have several
(exocytosis) plasmids can be transferred between prokaryotes
Rough Endoplasmic Reticulum: a system of sheet-like Flagellum: a long hair-like structure found in some
membranes that enclose a fluid filled space and covered species (some prokaryotes can have more than one)
with ribosomes used to make the cell move
The RER is the site of protein synthesis by ribosomes The cytoplasm has no membrane-bound organelles
It also provides a pathway for protein transport contains free 70S ribosomes (smaller than ribosomes
Smooth Endoplasmic Reticulum: similar to the RER but in eukaryotic cells)
doesn’t have ribosomes
Site of lipid and carbohydrate synthesis Virus structure
Ribosome: A very small organelle that either are free in
the cytoplasm or bound to the RER Viruses are non-living and acellular (not cells)
Made of two parts: larger and smaller subunits Made up of nucleic acids (DNA or RNA) surrounded by a
Come in two sizes: 80S (25nm in diameter - found in protein coat called a capsid
eukaryotic cells) and 70S (slightly smaller - found in Attachment proteins are found on the surface of the virus
prokaryotic cells) to allow it to attach to and enter a host cell
Ribosomes synthesise proteins from mRNA and
amino acids
Vacuole: A large fluid-filled sac surrounded by a
membrane called a tonoplast
Cell Division
Found in the cytoplasm of plant cells
Contains cell sap (a solution made of sugar and salts) 2.2. Mitosis
Helps to maintain pressure inside the cell and stop
plants wilting Eukaryotes replicate via mitosis
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There are two types of cell division in eukaryotes: mitosis 1. The circular DNA replicates once and plasmids
and meiosis replicate multiple times
Mitosis produces two identical ‘daughter’ cells for 2. The cell gets bigger and the loops of DNA move to
growth or repair of tissue opposite poles (ends) of the cells
Meiosis produces four genetically different daughter 3. The cytoplasm divides and a new cell membrane and
cells for reproduction cell wall begins to form
In multicellular organisms, not all cells retain their 4. Two ‘daughter’ cells are formed, each with one loop of
ability to divide but those that do follow the cell cycle circular DNA but a variable number of plasmids
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Transmission electron Scanning electron All cell membranes, in eukaryotic and prokaryotic
microscopes (TEM) microscopes (SEM) organisms have the same basic structure
Electrons are scattered and All cells (and many organelles in eukaryotic
organisms) are surrounded by cell membranes
Denser areas of the specimen with computer analysis, a
The cell membrane surrounding the cell is called the
absorb more electrons and so 3D image can be produced
cell-surface membrane
appear darker that show the surface of the
specimen Cell surface membranes are made up of a phospholipid
bilayer with other molecules embedded in it such as
Pros: Can use thicker proteins, glycolipids, glycoproteins, and cholesterol
Pros: Extremely high-resolution
specimens than TEM, The membrane has a ‘fluid mosaic’ structure
images
resulting image is 3D Phospholipid molecules form a continuous bilayer
Cons: Can’t use living Cons:Can’t use living which is called ‘fluid’ as the phospholipids are
specimens, specimen must be specimens, specimen must constantly moving
extremely thin, a complex be extremely thin, a Proteins can either be embedded in one phospholipid
staining process required, complex staining process layer or span the whole bilayer
high-energy electron beam required, high-energy Proteins just in one layer are normally for mechanical
could damage specimen, electron beam could support or act as receptors for eg hormones
image is not in colour, image is damage specimen, image is Proteins spanning both layers can be channel or
2D, artefacts can form on not in colour, lower carrier proteins to transport substances in and out of
image resolution than TEM cells
Glycolipids are formed from a carbohydrate bound to a
Cell fractionation and lipid molecule
They extend out of the phospholipid bilayer into the
ultracentrifugation environment outside of the cell
They act as cell-surface receptors and also help to
Cell fractionation is a method of breaking cells up and maintain the stability of the membrane
separating the components They can also allow cells to bind together to form
Step 1: Homogenisation (breaking up the cells) tissues
can be done by grinding the cells in a blender or Glycoproteins are proteins embedded in the membrane
vibrating them with a carbohydrate group attached to them
The solution should be ice-cold (to reduce activity of They act as receptors/recognition sites and help cells
enzymes that may break down organelles) and bind together to form tissues
isotonic (same pH as cell - use a buffer) They also allow immune cells to recognise self cells so
Step 2: Filtration (removing complete cells and debris) they don’t get attacked
Step 3: Ultracentrifugation (separating the organelles) Cholesterol molecules are found inside the phospholipid
Pour cell fragments into a test tube and put the test bilayer between the phospholipid molecules and they
tube into a centrifuge increase the strength of the membrane
Spin the centrifuge at low speed They pull the hydrophobic tails of the phospholipids
The heaviest organelles (nuclei) are forced to the together which limits their movement, which makes
bottom to form a thick sediment called the pellet the membrane more rigid especially at high
The liquid above is called the supernatant and is temperatures
transferred to another test tube to be spun again This helps to maintain the shape of animal cells
Spin the centrifuge faster to isolate the the (which don’t have cell walls for stability)
mitochondria in the pellet then drain the supernatant The cell-surface membrane is partially permeable which
to spin again means it lets some things through but not others
Continue the process to isolate the next heaviest etc small, lipid-soluble (non-polar) molecules can pass
Organelles are isolated in this order: nuclei, through the lipid bilayer
mitochondria, lysosomes, endoplasmic reticulum, and other molecules can only enter the cell if there is a
then ribosomes specific channel or carrier protein for them
membrane Diffusion
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Osmosis Phagocytosis
Osmosis is the diffusion of water molecules Phagocytes are a type of white blood cell that engulf and
It is the movement of water from an area of high destroy pathogens
water potential to an area of low water potential
It is a passive process (doesn’t require energy from 1. The pathogen releases chemical products that attract
ATP) the phagocyte towards it
Water potential is the ‘concentration’ of water 2. The phagocyte attaches to the receptors on the
A solution with a high concentration of solute will have a surface of the pathogen and recognises the foreign
low water potential and vice versa antigens
To increase the rate of osmosis, increase the water 3. The cytoplasm of the pathogen engulfs the pathogen
potential gradient, make the exchange surface thinner, inside a membrane called a phagosome
and increase the surface area of exchange surface 4. Lysosomes fuse with the phagosome and break down
the pathogen
Active Transport 5. The phagocyte displays the pathogen’s antigens on its
cell-surface membrane and is referred to as an APC
Active transport is the movement of substances from an (antigen-presenting cell)
area of low concentration to high concentration against
the concentration gradient B-cells (see below) can also engulf pathogens and
It is an active process (requires energy from ATP) become APC’s
Carrier proteins are used in active transport (as well as
facilitated diffusion) Cell-mediated response
The molecule or ion binds to a specific carrier protein
ATP breaks down into ADP and a Pi group which T cells are a type of immune cell
releases energy to change the shape of the carrier
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There are two types of T cells: helper T cells and Passive immunity is when the body receives antibodies
cytotoxic T cells from a different organism
Receptors on specific helper T cells are complementary to Natural passive immunity: after a baby receives
the antigens the APC is presenting and this causes the antibodies from its mother in breast milk or through
helper T cell to undergo clonal expansion (clones itself) the placenta
and release cytokines (chemical signals) Artificial passive immunity: after you get a vaccine
The helper T cells activate cytotoxic T cells which search containing antibodies against a pathogen
for infected body cells
When they find an infected cell, they inject it with Active immunity Passive immunity
perforin which causes the cell membrane to Involves exposure to the Does not involve exposure to
disintegrate and the cell to die pathogen’s antigens antigens
No memory cells are
Humoral response Memory cells are produced
produced
The cytokines from the helper T cells activate B cells that Protection is not immediate Protection is immediate
are specific to the antigens on the APC Immunity is short term as
Immunity is long term as
The B-cell undergoes clonal expansion and after a while, the antibodies
memory cells are formed
differentiation (specialisation) into plasma cells and are broken down
memory B cells
Plasma cells produce antibodies that fit the antigens on
the APC HIV and AIDS
Antibodies are proteins made by B-cells that have a
binding site complementary to antigens on a specific HIV (Human Immunodeficiency Virus) is made up of two
pathogen single strands of RNA enclosed in a capsid and
Antibodies are made of four polypeptide chains, two surrounded by a lipid envelope in which are embedded
called heavy chains and two called light chains. They attachment proteins
each have two binding sites HIV infects and kills helper T cells and eventually this
Antibodies have a variable region (the binding sites) leads to weakened immunity which is AIDS (Acquired
and a constant region that is the same for all Immune Deficiency Syndrome )
antibodies This makes the individual very susceptible to other
Antibodies bind to antigens to create a antigen- secondary diseases that eventually kill the person
antibody complex Antibiotics don’t work against viruses because antibiotics
Antibodies can attack different aspects of bacteria that viruses don’t have
cause agglutination (pathogens stick together so Antibiotics like penicillin work by inhibiting enzymes
they can be engulfed easier) that form peptide cross-linkages in the murein cell
act as markers to stimulate the phagocytes to walls
engulf the pathogen This causes the wall the burst and the bacterium to
neutralise the pathogen so it can’t enter any body die
cells Viruses don’t have cell walls so antibiotics won’t work
Memory B-cells circulate in the blood to activate the against them
secondary immune response in case the pathogen
attacks again
If it encounters the pathogen again, it will undergo Antibodies and Medicine
clonal expansion, differentiate into plasma cells, and
release antibodies
However some pathogens can evade the immune
2.6. Monoclonal antibodies
system a second time due to antigenic variation
Monoclonal antibodies are antibodies that can be
(changing their surface antigens) and this means that
isolated and cloned
the secondary immune response won’t be triggered
They can be used in medicine to target medication to a
specific cell type by attaching a drug to the antibody
Active and passive immunity They can also be used in medical diagnosis eg the ELISA
test
Active immunity is when the immune system produces its
own antibodies and memory cells: The ELISA test
Natural active immunity: after you catch a disease,
you become immune The ELISA test is a medical test that can be used to test
Artificial active immunity: after you get a vaccine for anything that the body makes antibodies against
containing dead or weakened pathogens
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1. Antigens from the pathogen we are testing for is ratio. In warmer climates, animals have adaptations
bound to the bottom of a surface eg large ears to maximise surface area to volume
2. A sample of the patient’s blood plasma is added. If ratio
they have antibodies against the antigen, these will Smaller animals tend to have a higher metabolic rate
bind now so they end up losing more heat than larger animals
3. The surface is rinsed to remove any unbound antigen
4. A secondary antibody with an enzyme attached is
added to the surface. This antibody is specific for the
first antibody and if the first antibodies were present
in step 2, the secondary antibodies will bind to them
now
5. The well is rinsed again
6. A substrate for the enzyme is added. If the enzyme is
present, the substrate will change colour and this
indicates that the patient has the antibodies in their
blood and is infected with the pathogen.
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The trachea (windpipe) branches off into two bronchi, Tidal volume: the volume of air in each breath (0.4 -
which split into many small bronchioles, that end in 0.5 dm3 for healthy adults)
tiny air sacs called alveoli Ventilation rate: number of breaths/ minute (usually
15)
ventilation rate = tidal volume x breathing rate
Forced expiratory volume (FEV): the volume of air that
can be expelled in 1 second
Forced vital capacity (FVC): maximum volume of air
that can be breathed out after a deep breath in
Tuberculosis (TB) results in the formation of small lumps
in the lungs called ‘tubercles’
This damages the gas exchange surface so tidal
volume is reduced
The alveolar epithelium is the site of gas exchange in This leads to coughing up blood, chest pain, shortness
humans of breath, and fatigue
There are millions of alveoli so there is a huge surface Fibrosis is when scar tissue forms in the lungs
area for gas exchange this can be due to an infection or exposure to
The alveolar wall is only one cell thick so there is a substances like asbestos
very short diffusion distance Scar tissue cannot expand as much as normal tissue
The alveoli are covered in capillaries so tidal volume and FCV decrease
Ventilation (breathing) is made up of two stages: this results in shortness of breath and chest pain
inspiration (breathing in) and expiration (breathing out) Asthma attacks cause the airways to become narrow so
Ventilation is controlled by the diaphragm and the breathing becomes difficult
intercostal muscles (muscles around the ribs) This reduces FEV and leads to wheezing and
shortness of breath
Emphysema occurs as a result of smoking or exposure to
air pollution
Foreign particles become trapped in the alveoli
causing inflammation
Phagocytes are attracted to the area and produce an
enzyme that breaks down the elastic walls of the
lungs
This results in the alveoli becoming damaged and
unable to recoil to expel air
Leads to shortness of breath and wheezing as well as
an increased ventilation rate
Research in the 1950s -60s showed a link between
smoking and several types of cancer
This resulted in health warnings being printed on
During inspiration:
cigarette packets
The external intercostal muscles contract, while the
Many studies have documented the link between air
internal intercostal muscles relax which pulls the ribs
pollution and various diseases
upwards and outwards
This resulted in upper limits being placed on the
The diaphragm contracts, causing it to flatten
amount of pollution that can be emitted and taxes on
The volume of the thorax increases and the pressure
cars that pollute
in the lungs decreases so air is sucked into the lungs
Inspiration is active - it requires energy
During expiration: 3.3. Digestion and Absorption
The external intercostal muscles and the diaphragm
relax Digestion
The volume of the thorax decreases, increasing the
pressure and this causes air to be forced out Digestion involves large biological molecules are
Expiration is passive - it doesn’t normally require hydrolysed into smaller molecules that can be absorbed
energy (except during exercise) across cell membranes
In mammals, carbohydrates are digested by
Lung disease and ventilation amylases (breaks down starch into maltose) in the
mouth and small intestines
Lung disease can be diagnosed by measuring lung
function
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membrane-bound disaccharides attached to the cell This pattern is shown on a disassociation curve:
membrane of epithelial cells in the small intestine
(breaks disaccharides into monosaccharides)
Lipids are digested by lipase and bile salts in the small
intestine
Bile salts break up lipids into small droplets called
micelles in a process of emulsification
Lipase breaks down the micelles into fatty acids and
glycerol
Proteins are broken down by peptidases
Endopeptidases break peptide bonds in the middle of
the molecule
Exopeptidases break peptide bonds on the ends of
the molecule
Dipeptidases break peptide bonds in dipeptidases
The partial pressure of carbon dioxide (pCO2) has an
effect on the haemoglobin disassociation curve
Absorption This is called the Bohr effect
Cell respiration produces CO2, which increases pCO2
In mammals, absorption occurs along the cell membrane This causes the affinity of haemoglobin for oxygen to
of epithelial cells in the small intestine decrease, so it disassociates with oxygen
Glucose and amino acids are absorbed by sodium ion co- The disassociation curve shifts to the right so more
transporter oxygen is released
Sodium ions are actively transported out of the Different organisms have different types of haemoglobin
epithelial cell into the lumen of the small intestine Organisms that live in areas with a low pO2 (high
They then diffuse back in and take glucose with them altitudes) have haemoglobin with higher affinity for
through the co-transporter oxygen (disassociation curve is shifted to the left)
Organisms that live in areas with a high pO2 have
3.4. Mass Transport haemoglobin with a lower affinity for oxygen
(disassociation curve is shifted to the right)
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Tissue fluid is the fluid surrounding cells in tissues Water moves up the xylem due to cohesion (water
It is formed from blood plasma molecules sticking together) and tension (suction due to
At the arteriole end of the capillary bed, the loss of water molecules)
hydrostatic pressure in the blood vessels is higher It is a passive process (does not require energy)
than the tissue fluid
Water and small molecules are pushed out of gaps in 1. Water is constantly evaporating from the leaves
capillary walls and leave the blood plasma 2. This creates a water potential gradient from the roots
At the venule end of the capillary bed, the hydrostatic to the leaves
pressure in the tissue fluid is higher than in the blood 3. The water column moves up the plant down this
vessels water potential gradient
Water and small molecules re-enter the blood plasma
This causes a constant renewal of tissue fluid which Phloem and transport of sugars
leads to efficient exchange
Sugars move through the phloem according to the mass
Excess tissue fluid is drained by the lymphatic system
flow theory of translocation
which returns it to the circulatory system
It is an active process (requires energy)
Cardiovascular disease 1. Sugars and solutes are actively transported from the
source, through companion cells, and loaded into the
Cardiovascular disease begins with the formation of an
phloem
atheroma
2. This causes the water potential of the phloem to
If the endothelium of an artery is broken then white
decrease so water moves into the phloem from the
blood cells and lipids gather under it and form a
xylem
plaque called an atheroma
3. This creates a high pressure in phloem at the source
If many atheromas form in the coronary arteries then
end
this is called coronary heart disease (CHD)
4. The pressure at the phloem at the sink end is lower
An aneurysm forms when the inner layers of the artery
than at the source end
are forced through the outer layers
5. Solutes move through the phloem from the source to
This can occur due to a atheroma
the sink down a pressure gradient
If the aneurysm bursts, it can cause a haemorrhage
6. Solutes are used up in respiration or stored at the
Thrombosis is a blood clot that can dislodge and block a
sink end
blood vessel elsewhere in the body
This can form as a result of an atheroma rupturing
the inner lining or an artery
If atheromas in the coronary arteries block blood flow to
the heart then this can lead to a myocardial infarction
(heart attack)
this can lead to chest pain, shortness of breath and
death of the heart muscle
Risk factors for CHD include:
High blood cholesterol due to a diet high in saturated
fats
Cigarette smoking
High blood pressure due to lack of exercise, being
overweight, or chronic stress
Some people also have a genetic disposition to CHD
so they should reduce their risk by minimising other
risk factors
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The 14-C will then be combined into the sugars non-overlapping: base triplets don’t overlap or
produced by the plant share their bases
Photographic film can then be used to track how the A gene’s position on a chromosome is called a locus
radioactive carbon has moved through the plant Most of the DNA in eukaryotes is non-coding
Ringing experiments can be used to investigate mass flow There are non-coding repeating sequences between
A ring of bark that includes the phloem but not the genes
xylem is removed from a woody stem of a plant Within genes, there are non-coding sequences called
The plant is left for some time until a bulge forms introns between the coding sequences (exons)
above the ring
If the fluid from the bulge is tested, it will contain a 4.2. DNA and protein synthesis
higher concentration of sugars than the fluid below
the ring The genome of a cell is the complete set of genes that it
This shows that there is a downwards flow of sugars contains
The proteome of a cell is the full range of proteins
4. Genetic information, that the cell is able to produce
The proteome will be different for different types of
variation and relationships cell
Protein synthesis has two main parts: transcription and
Transcription
4.1. DNA, genes, and chromosomes
Transcription is the production of mRNA from DNA
DNA is stored differently in prokaryotes and eukaryotes mRNA is a single polynucleotide strand that contains
groups of three bases called codons
Eukaryotes Prokaryotes
Translation
Linear DNA Circular DNA
Associated with proteins Not associated with proteins Translation is the production of polypeptides from the
Contained in nuclear Not contained in a sequence of codons carried by mRNA
membrane membrane It involves tRNA (transfer RNA) which is a single strand
of RNA folded into a ‘clover-leaf’ shape
On one end is a specific sequence of three bases
Mitochondria and chloroplasts in eukaryotic cells have
circular DNA like prokaryotes called an ‘anticodon’, and on the other end is an
DNA contains genes amino acid binding site
Genes are sequences of DNA that can code for the
1. the mRNA attaches itself to a ribosome and the tRNA
amino acid sequence of a polypeptide brings amino acids
Genes that don’t code for a polypeptide code for
2. A tRNA molecule that has a complementary anticodon
functional RNA eg tRNA (transfer RNA) or rRNA for the first codon on the amino acid binds to it
(ribosomal RNA)
3. Another tRNA that is complementary for the the
Every three bases in the DNA sequence codes for a second codon binds
different amino acid
4. The amino acids they carry are joined together by the
The genetic code is
ribosome
universal: the same base sequence codes for the 5. This continues until the ribosome meets a codon
same amino acid in different organisms
called a ‘stop’ codon and this signals for translation to
degenerate: some amino acids are coded for by stop and the polypeptide to detach
more than one base sequence (eg UAU and UAC
both code for tyrosine)
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All the active processes in transcription and translation Every time the DNA divides, independent segregation
occur with the energy released from the breakdown of occurs (chromosomes line up randomly)
ATP into ADP + Pi This results in genetically different daughter cells
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An index of diversity is a numerical way of measuring Again, many differences mean that the organisms
diversity are distantly related
It is calculated by the following formula: The immunological responses that are caused by their
antibodies
An antibody from a similar organism will be
recognised by the immune system
New gene technology has caused a change in how genetic
N = the total number of organisms of each species diversity is investigated
and n = the total number of organisms of each We are now able to sequence DNA which is more
species accurate than looking at measured/observable
Biodiversity can be reduced through farming techniques characteristics
A monoculture is when farmers grow only one type of
plant Investigating variation within a species
Only a small number of organisms can be
supported so biodiversity is reduced Variation in a species is caused by genes and/or the
The use of herbicides to kill weeds reduces plant environment
diversity Variation exists within a species and between species
Animals that rely on the weeds could die To study variation within a species
Using pesticides to kill insects that eat the crops
reduces insect diversity 1. Choose a random sample of organisms
2. Collect statistical data from the sample
Birds and small mammals that feed on the insects
could die 3. Calculate a mean and standard deviation for the
Removing hedgerows to create bigger fields for sample
machinery destroys the habitat of the organisms that 4. Interpret the results
live in the hedgerows 1. The mean is used to compare variation
Woodland clearance reduces the number of trees and between samples
2. The standard deviation is used to compare
the diversity of tree species while also destroying the
habitat of the organisms that live in the woodland variation within a sample
Due to a growing human population, agriculture is more
important than ever but it is essential to balance
improving agriculture with conserving biodiversity.
5. Energy transfers in and
Strategies to do this may include:
Protecting endangered species
between organisms
Restricting development of some areas by designating
them as National Parks, SSSIs (Sites of Special 5.1. Photosynthesis
Scientific Interest) or AONBs (Areas of Outstanding
Natural Beauty) Photosynthesis is the process by which plants convert
Provide subsidies to farmers to encourage them to sunlight, water and carbon dioxide into glucose and
conserve biodiversity oxygen
It occurs in a series of steps but the overall reaction is
4.7. Investigating diversity 6CO2 + 6H2O → C6H12O6 + 6O2
The plant then stores the glucose until it is needed to
Diversity within a species or between many species can release energy in the form of ATP during respiration.
be measured genetically
This can be done by investigating The Light-Dependent Reaction
The frequency of measured/observable
The light-dependent reaction is the first step of
characteristics that are found in the organisms
photosynthesis
Organisms that look similar are probably closely
This takes place in the Thylakoid membranes of
related
chloroplasts and involves the green pigment chlorophyll
The base sequence of DNA and/or mRNA
Chlorophyll is found in structures called photosystems
The more similar the DNA and mRNA, the more
that are embedded in the thylakoid membrane
closely related the organisms are
Between the photosystems is a system of protein
If there are many differences, the organisms are
channels called electron carriers that make up the
not closely related
electron transport chain
The amino acid sequence of the proteins formed from
In the light-dependent reaction, ATP, reduced NADP, and
the mRNA
O2 are made by phosphorylation
Related organisms will have similar DNA so similar
amino acid sequences
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Non-cyclic phosphorylation forms ATP, reduced NADP, and 1. An enzyme called rubisco (ribulose bisphosphate
O2 carboxylase) is used to combine CO2 with a molecule
called ribulose bisphosphate (RuBP) to form 2
1. Light energy strikes photosystem 2 (PSII) and is
molecules of glycerate phosphate (GP)
absorbed
2. 2xGP is converted to three molecules of TP using the
2. The light energy excites electrons in the chlorophyll in
energy from the breakdown of 2ATP to ADP and
PSII
2NADPH to NADP
3. These electrons, now at a higher energy level, move
3. Some TP is converted to glucose. The rest is used to
down the electron transport chain to photosystem 1
regenerate RuBP using the energy from the
(PSI)
breakdown of 1 ATP to ADP
4. As they move down the electron transport chain, they
lose energy that is used to actively transport H+ ions The ATP and NADPH used in the Calvin Cycle come from the
into the thylakoid against their concentration gradient light-dependent reaction
5. The H+ ions flow down their concentration gradient
through the ATP synthase enzyme channel which Optimum conditions for photosynthesis
causes ADP and a phosphate group (Pi) to be
combined to form ATP High light intensity of a certain wavelength
6. The H+ ions bond to NADP to form reduced NADP The higher the intensity (brightness) of the light, the
(NADPH) more energy it can carry
Only certain wavelengths of light are absorbed by the
Cyclic phosphorylation only forms ATP chlorophyll found in plants (chlorophyll a and b and
carotene)
1. Light strikes PSI
The red and blue wavelengths are absorbed
2. The electrons are moved in a loop from PSI to the
The green wavelengths are reflected which is why
electron carriers and back again
plants look green
3. This process only forms small amounts of ATP
A temperature of about 25C
This is the optimum temperature for the enzymes
The Light-Independent Reaction (the Calvin Cycle)
involved in photosynthesis
The light-independent reaction, also known as the Calvin At high temperatures, the stomata of the plant will
Cycle, is the second stage of photosynthesis close to avoid water loss, limiting the rate of
It takes place in the stroma of the chloroplasts transpiration and photosynthesis
It forms a molecule called triose phosphate (TP) that can A CO2 concentration of about 0.4%
be converted into glucose and other substances The concentration of CO2 in the air is 0.04% but
increasing this to 0.4% increases the rate of
photosynthesis
5.2. Respiration
Respiration produces ATP
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There are two main types: aerobic and anaerobic The link reaction converts pyruvate to acetyl coenzyme A
aerobic respiration takes place in the presence of air
anaerobic respiration takes place without air but is
less efficient than aerobic respiration
Glycolysis
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Oxidative Phosphorylation (the Electron Transport Use the heat to heat a sample of water and measure
Chain) the temperature change
Use this value to work out the energy content of the
The final stage of respiration, forming ATP and H2O biomass
The other steps of respiration create some ATP but
not as much as this stage Measures of chemical energy stores for plants
It takes place across the inner mitochondrial membrane
The plant's chemical energy formed and stored can be
measured using GPP and NPP.
GPP (Gross Primary Production) is the total amount of
light energy that a given area of plants converts to
chemical energy through photosynthesis.
It is the chemical energy stored in plant biomass in a
given area or volume.
Some of the Energy will be lost as heat during
respiration, and this is called R (respiratory losses)
NPP (Net primary production) is the store of energy that
is available for growth and reproduction
NPP = GPP - R
1. NADH and FADH from the Krebs Cycle break down Gross and net primary production is often expressed as a
into NAD and FAD, releasing hydrogen rate (e.g. kJ per m2 per year)
2. These hydrogen atoms are broken down into H+ ions
and electrons Calculating net production for consumers
3. The electrons move down the chain of electron
carriers in the mitochondrial membrane (the electron Consumers store chemical energy that they have gotten
transport chain) and release energy as they do so from eating plants and animals.
4. This energy is used to pump the H+ ions across the This chemical energy is stored in the biomass of the
membrane against their concentration gradient animal\
5. The H+ ions diffuse back across the membrane Net production is calculated as N = I - (F +R)
through the ATP synthase enzyme channel N = net production
6. This movement provides energy for the enzyme to I = energy in ingested food
combine ADP and Pi to form ATP F = energy lost in faeces and urine
7. The H+ ions and the electrons from the electron R = energy lost through respiration
transport chain combine with O2 to form H2O Net production is also referred to as secondary
production
Glucose is not the only respiratory substrate - lipids and To calculate the % efficiency of energy transfer, work out
amino acids break down to form molecules that enter the the net production as a percentage of the ingested
Krebs Cycle and are used for respiration. energy
Plants synthesise organic compounds from atmospheric Farming practices can make the transfer of energy within
or aquatic carbon dioxide. food webs more efficient.
Some of these compounds are used during respiration, Food webs show how energy is transferred between
but the rest forms plant biomass. organisms
Energy transfer can become less efficient in food
Measuring biomass webs due to pests or energy losses in respiration
Farming practices like using herbicides and pesticides
Measuring the dry mass can eliminate losses because of pests
Heat a sample of biomass until it is dry, then weigh it Keeping animals indoors in a warm environment
Scale up the mass to work out the mass of the entire reduces energy losses through respiration
organism
Measuring the mass of carbon
5.4. Nutrient Cycles
The mass of carbon is usually taken as 50% of the dry
mass Within natural ecosystems, minerals and nutrients are
Measuring the chemical energy content recycled
Weigh a sample of biomass and then burn it Two examples of this are the nitrogen and phosphorus
completely cycles
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The Nitrogen Cycle 4. When plants and animals die, saprobionts release
phosphate ions back into the soil, where plants can
take them up
5. Fertilisers also release phosphate ions into the
ground so plants can take them up.
Eutrophication
1. Mineral ions are leached from the soil and wash into
rivers and lakes
2. This causes the rapid growth of algae on the surface
of the lake
Nitrogen fixation is when the nitrogen gas in the 3. Large amounts of algae block out light to the aquatic
atmosphere is turned into nitrogen compounds in the plants below
soil, e.g. nitrates. 4. These plants die as they are unable to carry out
Bacteria can do it in the root nodules of plants such as photosynthesis
peas, beans, and clover. 5. Bacteria feed on the dead plants and respire, using up
It can also take place during lightning strikes. the dissolved oxygen in the water
Ammonification is when nitrogen compounds in animal 6. Fish and other animals die as there is not enough
waste or dead organisms are turned into ammonia by oxygen left for them
decomposing bacteria called saprobionts.
Nitrification is when ammonium ions in the soil are
changed into nitrogen compounds (e.g. nitrates) by 6. Organisms respond to
nitrifying bacteria.
Denitrification is the opposite of nitrogen fixation: when changes in their internal and
nitrates in the soil are converted into nitrogen gas by
denitrifying bacteria. external environments
This process takes place in anaerobic conditions such
as waterlogged soils. 6.1. Survival and Response
The Phosphorus Cycle Organisms survive by responding to changes in the
environment (internal and external)
Internal: ensuring that body temperature and pH are
optimal for metabolism
External: avoiding harmful environments or changing
by responding to changes in the environment.
Plants respond to external stimuli like gravity and light
Plants grow towards the light to maximize
photosynthesis
They sense gravity so that shoots and roots grow the
correct way
A plant’s growth response to a stimulus is called a
tropism.
a positive tropism is a growth towards a stimulus
1. Phosphate ions in rocks are transferred to the soil by a negative tropism is growth away from a stimulus
weathering. Phototropism is the growth response of plants to lights
2. Mycorrhizal bacteria in plant roots take phosphate shoots have a positive phototropic response: they
ions into the plants grow towards the light
3. Phosphate ions are then transferred to animals when roots have a negative phototropic response: they
they eat the plants and lost from the animals in waste grow away from the light
products Gravitropism is the growth response of plants to gravity
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shoots are negatively gravitropic: they grow away Kinetic responses (kineses) are when organisms move in
from the direction of the pull of gravity response to a non-directional stimulus.
roots are positively gravitropic: they grow towards the eg woodlice have a kinetic response to humidity: in a
direction of the pull of gravity humid environment, they move and turn less often so
Plants respond to stimuli by using growth factors they will stay where they are but in a dry
Growth factors are chemicals that speed up or slow environment, they move and turn more so that it is
down plant growth more likely they will move into a humid environment
Auxins are a group of growth factors that stimulate this helps to keep them in humid conditions which
growth by causing cells to elongate stops them from drying out
In shoots, high concentrations of auxin cause cell
elongation but in roots, high concentrations of auxin Control of heart rate
inhibit cell elongation
IAA (Indoleacetic Acid) is a type of auxin that is produced Cardiac muscle is a myogenic muscle: it will contract on
in the shoots of flowering plants its own without a nerve impulse
It moves around the plants to control tropisms The heart has a pacemaker that regulates these
Phototropism: IAA accumulates on the more shaded side contractions called the SAN (sinoatrial node)
of shoots and roots
This causes shoots to bend towards the light and
roots to bend away from the light
Gravitropism: IAA accumulates on the underside of 1. The SAN sends out a wave of electrical activity over
shoots and roots the atria of the heart which causes the left and right
This causes shoots to bend upwards and roots to atria of the heart to contract at the same time
2. The ventricles of the heart are separated from the
bend downwards
atria by a band of non-conducting tissue, so the signal
passes through the AVN (atrioventricular node)
1. the AVN has a slight delay which allows the
atria to fully empty before the ventricles
contract
3. The impulse travels from the AVN down the bundle of
His (a bundle of nerves that are found in the septum
or middle of the heart) and into the Purkyne tissue
4. The Purkyne tissue causes the ventricles to contract
simultaneously from the bottom up
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Baroreceptors are found in the aorta and carotid The retina of the eye contains lots of photoreceptor
arteries (in the neck) and are stimulated by high cells that detect light
and low blood pressure When light hits a photoreceptor, it causes an action
Chemoreceptors are found in the aorta, the carotid potential to form and sends a nerve impulse to the
arteries, and the medulla and respond to changes in brain via the optic nerve
O2 concentration and blood pH There are two types of photoreceptors: rods and cones
If blood pressure is too high, baroreceptors send Rods are very sensitive to light but they have low
impulses to the medulla oblongata which passes them to visual acuity. They can only detect monochromatic
the parasympathetic nervous system. This causes the light (black and white)
SAN to reduce heart rate this is because many rods join to one neuron so
If blood pressure is too low, then impulses are sent the signal is amplified but the light from two close
along the sympathetic nervous system which points cannot be told apart
increases heart rate. Cones are less sensitive to light but they have high
If blood CO2 is too low (which causes blood pH to be visual acuity. They can detect light in colour (red,
high), chemoreceptors send impulses to the medulla green, and blue)
oblongata which passes them to the parasympathetic this is because one cone joins to one neuron so
nervous system. This causes heart rate to decrease the signal is weaker but the light from two close
If blood O2 is too low (which causes blood pH to be points can be told apart
low), then impulses are sent along the sympathetic
nervous system which increases heart rate. 6.3. Nervous Coordination
6.2. Receptors Nerve Impulses
Receptors are specific to one kind of stimulus (will only Nerve impulses are transmitted via neurons
detect one kind of stimulus) and there are many different There are three types of neurons: sensory, motor, and
kinds of receptors relay
An example of a receptor is a Pacinian Corpuscle Sensory neurons transmit impulses from receptors
it is a mechanoreceptor (ie detects pressure and like Pacinian corpuscles to the CNS (central nervous
vibrations) and it is found in the skin system)
Motor neurons transmit impulses from the CNS to
effectors eg muscles
Relay neurons transmit signals between sensory and
motor neurons
\
A Pacinian Corpuscle is made up of the end of a sensory
neuron wrapped in layers of connective tissue called
lamellae
When a stimulus is applied, eg a nudge, the lamellae When a neuron is at rest, the inside of the cell membrane
deform and press on the sensory nerve ending is more negative than the outside
This causes sodium ion channels called stretch-mediated This is called the resting potential and it is about
sodium ion channels to open and sodium ions to enter -70mV
the cell The resting potential is maintained by sodium-
This causes a change in the charge of the cell called a potassium pumps
generator potential Sodium-potassium pumps move sodium out of
If this generator potential reaches above a certain the neuron and potassium into the neuron
threshold, it will form a nerve impulse known as an The cell membrane is permeable to potassium but
action potential not sodium, so the potassium inside the neuron
Another example of a receptor is a photoreceptor (light moves out down its concentration gradient
receptor) in the retina of the eye.
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This means that overall there are more positive A synapse is where an impulse is transferred from one
charges on the outside of the cell than on the neuron to another
inside which results in the inside being more There is a small gap between the neurons called the
negative than the outside synaptic cleft
When a neuron is stimulated, the membrane is The area of the neuron before the synapse is called
depolarised and forms an action potential the presynaptic knob and it is filled with vesicles
Na+ voltage-gated channels open so Na+ ions move containing chemicals called neurotransmitters
into the membrane, depolarizing it In a cholinergic synapse, the neurotransmitter is
If this depolarization reaches the threshold acetylcholine
potential of about -55mV, it is the beginning of an
action potential
Na+ voltage-gated channels then close and K+
voltage-gated channels open, repolarising the
membrane
Too much K+ enters the membrane, causing
hyperpolarisation
Ions diffuse back to their original places during the
refractory period and the next section of the
membrane is stimulated.
The refractory period ensures that the impulse only
travels in one direction as the membrane cannot be
stimulated
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The myosin filament has many troponin ‘heads’ that can 6.5. Homeostasis
bind to actin
However, when a muscle is relaxed, a protein called Homeostasis involves using physiological systems to
tropomyosin covers the binding sites on the actin maintain a constant internal environment within fixed
filament limits
A stable internal temperature and pH is very important to
ensure that the enzymes involved in metabolic reactions
are working at their optimum temperatures
Negative feedback is used in homeostasis
If the stimulus is above the limits, then the body will
work to reduce it and vice versa
1. An action potential arrives at a muscle cell and This allows for greater control over the levels of the
spreads down the T-tubules into the sarcoplasmic stimulus
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Maintaining blood glucose concentration Water is filtered in the nephrons in the kidney
If blood glucose is too low: 1. Osmoreceptors in the hypothalamus detect the rise in
water potential
1. The pancreas detects a drop in blood glucose 2. The posterior pituitary gland releases less ADH into
2. β cells start secreting glucagon and α cells stop the blood
secreting insulin 3. Less ADH results in the DCT and collecting duct
3. Glucagon binds to receptors on liver cells becoming less permeable to water so less water is
4. This activates glycogenolysis (breaking down glycogen reabsorbed
into glucose) and gluconeogenesis (making glucose 4. This results in a larger amount of more dilute urine
from fats) being produced
5. Liver cells release glucose into the blood
6. Blood glucose levels return to normal If blood water potential is too low:
Maintaining the water potential of blood 1. Osmoreceptors in the hypothalamus detect the drop
in water potential
Water potential of blood is regulated by the kidneys 2. The posterior pituitary gland releases more ADH into
the blood
3. More ADH results in the DCT and collecting duct
becoming more permeable to water so more water is
reabsorbed
4. This results in a smaller amount of more concentrated
urine being produced
7. Genetics, Population,
Evolution, and Ecosystems
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normally there are two alleles of a gene, but The Chi-squared test is a statistical test used to see if the
sometimes there can be more results of an experiment support the expected result.
Alleles can be dominant or recessive The test tells you if you can reject the ‘null hypothesis’
Dominant alleles will always be expressed if they are - which is that there is no significant difference
present while it takes two copies of a recessive allele between the expected data and observed data
to allow it to be expressed If you reject the null hypothesis, it means that there is
In fruit flies, the allele for normal wings (N) is a significant difference between the expected and
dominant, and the allele for vestigial wings (n) is observed data.
recessive You can use the chi-squared test to compare the
NN and Nn will all result in a fly with normal wings, goodness of fit of observed phenotypic ratios with
while only nn will result in a fly with vestigial wings expected ratios.
Co-dominant alleles will both be expressed if they are To run the chi-squared test, you need to calculate a test
present statistic and then compare it with a critical value in a
In humans, blood type is determined by genes: Io is table.
the allele for blood type O, Ia is the allele for blood
type A, and Ib is the allele for blood type B. 1. Use this formula to work out the test statistic:
Ia and Ib are co-dominant and Io is recessive
So Ia Ia and Ia Io will result in type A, Ib Ib and Ib Io
will result in type B, and only Io Io will result in type O
Ia Ib will result in type AB
You can show inheritance on an inheritance diagram like
a Punnet square
This can be used for both monohybrid and dihybrid
crosses
Monohybrid cross: when the inheritance of only one
characteristic is studied
Dihybrid cross: when the inheritance of two
characteristics is studied. 2. Find the right critical value from the chi-squared table:
1. Work out the degrees of freedom (number of
classes - 1) and the probability level (p-value)
you are using (usually 0.05)
2. Look in the corresponding row and column of
the table to find the critical value
3. Compare the critical value and the test statistic
1. If the test statistic is > or = to the critical value,
there is a significant difference between the
observed and the expected results, so the null
hypothesis can be rejected
2. If the test statistic is < the critical value, there is
no significant difference and the null
hypothesis cannot be rejected
You can predict the ratios of the offspring with a genetic
diagram 7.2. Populations
Sometimes the actual ratio will be very different from
the expected ratio A population is a group of organisms of the same species
This can be due to sex linkage, autosomal linkage, or occupying a particular space at a particular time that can
epistasis potentially interbreed.
Sex linkage is when the two genes are on the same sex Species exist as one or more populations of organisms
chromosome (X or Y) so they tend to be linked to the sex eg there are populations of the American Black Bear
of the offspring (Ursus americanus) in America and Canada
Autosomal linkage is when the two genes are on the Even though the populations are separate, they are
same autosomal chromosome (any of the other still part of the same species
chromosomes) so they tend to be inherited together The gene pool is the complete range of alleles present in
Epistasis is when one gene affects the expression of the a population
other Allele frequency is how often an allele occurs in a
population
The Chi-Squared Test It’s usually calculated as a percentage of the total
population eg 43%
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The Hardy-Weinburg Principle Speciation is when a new species forms from an existing
species
The Hardy–Weinberg principle provides a mathematical This is due to reproductive isolation which can be
model, which predicts that allele frequencies will not allopatric or sympatric
change from generation to generation. Allopatric speciation occurs due to geographical isolation
However, the principle only is used under certain Eg a population of the species gets trapped in an
conditions isolated area with a different climate
population is large Over time, the population will adapt to the new
no immigration or emigration climate leading to changes in allele frequency and
no mutations therefore changes in phenotype
no natural selection This results in individuals from the two populations
random mating being unable to breed to form fertile offspring, which
There are two Hardy-Weinburg equations: means that they are different species.
p+q =1 Sympatric speciation is similar to allopatric speciation but
p2 + 2pq + q 2 = 1 doesn’t require geographical isolation
p is the allele frequency of the dominant allele and q This can be due to:
is the allele frequency of the recessive allele polyploidy (different chromasome numbers)
seasonal isolation (different individuals have
different flowering or mating seasons)
7.3. Evolution and speciation mechanical isolation (differences in genetalia
prevent mating)
Individuals within a population of a species may show a
behavioral isolation (incorrect or differnet
wide range of variations in phenotype.
courtship rituals prevent mating)
This is because of genetic and environmental factors
Genetic drift is when a change in allele frequency occurs
Genetic variation stems from mutation, meiosis, and
by chance
random fertilisation of gametes
This can lead to evolution but often has a greater
Environmental variation is due to environmental
effect in smaller populations
factors such as climate, lifestyle, and food availability
The diversity of life on earth today results from millions of
Only genetic variation results in evolution
years of evolutionary change
Evolution is a change in allele frequency over time
Natural selection is one method by which evolution
occurs but it can also occur due to artificial selection 7.4. Populations in Ecosystems
1. There is variation amongst individuals in a population Populations of different species form a community
due to different individuals having different alleles A community and the non-living components of its
2. Selection pressures such as predation, competition, environment together form an ecosystem.
and disease, create a struggle for survival Ecosystems can range in size from the very small to
3. The individuals that are best adapted to the selection the very large.
pressures survive A habitat is a place where an organism lives
4. They then pass their alleles to their offspring Each species has its own niche in a habitat
5. This results in a greater proportion of the population This niche depends on adaptation to both abiotic
having the more desirable alleles (non-living, eg temperature) and biotic (living, eg the
6. Over time, the frequency of the desired allele presence of predators) conditions
increases, which is evolution. If two organisms occupy the same niche then there
will be competition between them and the better-
Selection can be stabilising, directional, or disruptive
adapted organism will survive
Stabilising and directional selection were discussed in
The carrying capacity of an ecosystem is the maximum
Chapter 4
population of a species that it can support
Disruptive selection is when individuals with extreme This varies due to abiotic and biotic factors
phenotypes are more likely to survive and reproduce abiotic factors include the amount of light, water, or
Eg in a bird population, birds with large beaks can eat
space available
large seeds and birds with small beaks can eat small
biotic factors include interspecific competition
seeds but birds with medium-sized beaks can eat (competition between species), intraspecific
neither
competition (competition within a species), and
Over time, most birds end up having either large or predation
small beaks
Investigating a population
Speciation
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To investigate a population, you need to take a random (this is called the climax community)
sample of the area you are investigating
For slow-moving or non-motile organisms, use a
quadrat to measure the % cover of the species at
different points in the habitat
For motile organisms, use the mark-release-recapture
method.
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There are two types of cell: somatic and stem Epigenetic control of gene expression
Usually, only part of a cell’s DNA is translated
Eg a muscle cell has the same DNA as a hair cell but Epigenetics involves heritable changes in gene function,
different portions of the DNA are translated which without changes to the base sequence of DNA.
makes the cells different This determines whether a gene is ‘switched on’ or
‘switched off’ by changing how easily the gene can be
Stem cells are body cells that can differentiate into many
different kinds of cell transcribed
There are several types of stem cell Some epigenetics can be inherited
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To switch a gene off, more methyl groups (-CH3) are Determining the genome of simpler organisms, such as
added to the DNA bacteria and viruses, allows the proteome of the
This makes it harder to transcribe the gene organism to be determined.
To switch a gene on, more acetyl groups (-COCH3) are The proteome is the protein sequences that are made
added to the DNA by the genome
This makes it easier for the DNA to be transcribed This may have many applications, including the
Epigenetics can lead to the development of genetic identification of potential antigens for use in vaccine
diseases and cancer production.
Fragile-X syndrome is a condition where there is More complex organisms have non-coding DNA and
increased methylation of the FMR1 gene because of a regulatory genes, so it is more difficult to work out the
deletion mutation proteome from the genome
This causes the gene to be switched off and the Sequencing methods are continuously updated and have
protein it codes for not to be produced become automated.
Increased acylation of genes that cause mitosis can Eg pyrosequencing. It is a new method that can
lead to cancer sequence up to 400 million DNA bases in under 10
hours
RNA interference in translation
8.5. Recombinant DNA technology
In eukaryotes and some prokaryotes, translation of the
mRNA produced from target genes can be inhibited by
Recombinant DNA technology involves the transfer of
RNA interference
fragments of DNA from one organism, or species, to
Specific RNA molecules called siRNA (small interfering
another
RNA) and miRNA (microRNA) disrupt the translation
The genetic code is universal, so the transferred DNA
siRNA cuts up the mRNA so it can’t be translated
will be translated in the cells of the recipient organism
miRNA binds to the mRNA to block translation
An organism that has had DNA transferred to it is
called transgenic
Gene expression and cancer
Fragments of DNA can be produced in several ways:
Using reverse transcriptase to convert mRNA to cDNA
A mass of abnormal cells is called a tumour
Using restriction enzymes to cut a fragment
There are two main types of tumour: benign and
containing the gene from the DNA
malignant
Benign tumours are not cancerous. They grow slowly Using a ‘gene machine’ to create the desired section
of DNA
and are often harmless but some can become
malignant tumours
Amplifying DNA fragments
Malignant tumours are cancerous. They grow rapidly
and invade surrounding tissue. Pieces of the tumour
Fragments of DNA can be amplified by in vitro and in vivo
can break off and spread to other parts of the body
techniques.
through the blood or lymphatic system
In vitro refers to techniques that involve a lab
Tumours can be caused by changes to genes called
In vivo refers to techniques that use living cells
tumour suppressor genes and proto-oncogenes
The polymerase chain reaction (PCR) is an example of an
If many methyl groups (-CH3) bind to tumour
in vitro method
suppressor genes, it becomes harder to transcribe the
PCR makes millions of copies of a DNA fragment in a
gene and this means that mitosis isn’t regulated
few hours
Unregulated mitosis then leads to cancer
If many acetyl groups (-COCH3) bind to proto- 1. A reaction mixture containing the DNA sample, free
oncogenes that promote mitosis, they become nucleotides, DNA polymerase, and DNA primers
oncogenes which then stimulated cells to divide (short pieces of DNA that are complementary to the
uncontrollably ends of the DNA strand) is set up
Increased concentrations of the hormone oestrogen can 2. The mixture is heated to 90C to break the hydrogen
play a part in the development of some breast cancers bonds between the complementary strands of DNA
3. The mixture is then cooled to between 50 and 65C so
8.4. Using genome projects that primers can anneal (bind) to the strands
4. The mixture is heated again to 72C for the DNA
Sequencing projects have read the genomes of a wide polymerase to form new complementary strands of
range of organisms, including humans. DNA
The Human Genome Project mapped the entire 5. In every cycle of PCR, the volume of DNA doubles
genome of several volunteers in 2003
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Recombinant DNA technology is an example of an in vivo DNA probes are used to locate specific alleles of genes
method: This can be used to see if a person has an allele that
could lead to them having a genetic disorder
1. The required DNA fragment is isolated using DNA probes are short strands of DNA that have a
restriction endonucleases, reverse transcriptase, or a complementary base sequence to the target allele
gene machine. The DNA is cut to form ‘sticky ends’ They also have a fluorescent or radioactive label
that allow it to join to other DNA strands attached which means they can be seen under UV
2. The DNA is inserted into a loop of plasmid DNA that light or in an X-ray
acts as a vector. Ligases are used that act as ‘glue’ to If they meed the target allele, they bind (hybridise)
join the DNA to the strands by forming with it
complementary sticky ends
3. This recombinant plasmid is transferred to a 1. A sample of DNA is digested into fragments using
bacterium and the transformed bacteria are identified restriction enzymes and separated through a process
and isolated. known as electrophoresis
1. ‘Marker genes’ can be inserted into the 1. Electrophoresis is discussed in detail later in
plasmid as well so that bacteria that have this section
taken up the plasmid can be identified 2. The separated DNA fragments are then transferred to
2. These marker genes can cause the bacterium a thin nylon membrane and the fluorescently -
to fluoresce (glow) under UV light or give the labelled DNA probe is added
bacterium to be resistant to a certain antibiotic 3. If the allele is present, the DNA probe will bind to it
4. The bacteria are allowed to grow and divide and the 4. The membrane is then exposed to UV light and if the
protein produced from the recombinant plasmid is allele is present, a fluorescent band will appear
isolated.
DNA probes can also be used in DNA microarrays
1. Promotor and terminator regions are regions
A microarray is a glass slide with different DNA probes
of the DNA that start or stop transcription
attached to it
2. These may need to be added to the DNA or
When using a microarray, the DNA probes are not
may already be present in the plasmid DNA
labelled; the human DNA that is added is
Recombinant DNA technology has many benefits to The human DNA binds to any of the DNA probes that
humans but also poses some ethical issues are complementary
Crops can be transformed to give higher yields or be When the tray is rinsed and looked at under UV light,
more nutritious (eg Golden Rice) only certain spots on the microarray will light up. This
However, genetically identical crops are more indicates which alleles are present.
susceptible to disease, weeds may breed with DNA probes can be used to screen for:
genetically modified crops to create ‘superweeds’, Inherited conditions such as Huntingdon’s disease.
and seeds from genetically modified crops can This disease does not have any effects until around
contaminate organic crops age 40 so screening for it can allow a person to start
Industrial enzymes can be formed using recombinant the treatments as soon as possible
DNA technology, which reduces costs Responses to specific drugs such as cancer
However, this will make some companies more medications that will only be effective if a person has
powerful as they can take out patents on certain a specific mutation in an allele
enzymes and charge others for using them Health risks such as genetic predispositions to
developing certain cancers. This can allow people to
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make lifestyle choices that reduce their risk. 7. The electrical current is turned off and the DNA is
This screening can be used in genetic counselling transferred to a thin nylon membrane in a process
known as Southern Blotting
Genetic fingerprinting 8. Under UV light, bands of DNA can be seen which is
the individual’s genetic fingerprint
Some of the non-coding DNA of an organism is made up 9. Two genetic fingerprints can be compared and if both
of Variable Number Tandem Repeats (VNTRs) fingerprints have a band on the same location on the
They are long chains of repeating base sequences eg gel, it means they have the same number of VNTRs
ATGCATGCATGCATGCATGC… and are therefore related
The number of repeats varies between individuals
and can be compared Genetic fingerprinting can be used in:
This is known as genetic fingerprinting Paternity tests, to determine who the father of a child
is
Gel electrophoresis is used to separate DNA fragments to Forensic science, to compare suspects’ DNA with that
make a genetic fingerprint found at the crime scene
Medical diagnosis, to diagnose genetic disorders and
1. A DNA sample is obtained and the areas containing
cancer
VNTRs are amplified using PCR
2. DNA fragments corresponding to the length of the
VNTRs are obtained and a fluorescent tag is added
3. The DNA mixture is placed in a slab of gel and is
covered with a buffer solution that conducts
electricity
4. An electrical current is passed through the gel
5. DNA is negatively charged so the fragments move
towards the positive electrode
6. Smaller, more charged DNA fragments move further
than heavier, less charged ones
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Biology