AQA A-Level Biology: Paper 2

7402/2  ·  2 hours  ·  91 marks  ·  35% of A-Level  ·  Topics 5 – 8

Topic 5 - Energy transfers in and between organisms

5.1  Chloroplasts and the light-dependent reactions

Thylakoid membrane
Site of the light-dependent reactions. Contains photosystems (PS I and PS II), electron transport chain proteins, and ATP synthase. Grana = stacks of thylakoids; large surface area for light absorption.
Stroma
Fluid surrounding the thylakoids. Site of the Calvin cycle (light-independent reactions). Contains RuBisCO, intermediates of the cycle, chloroplast DNA, and 70S ribosomes.
Photosystem II (PSII)
Absorbs light at 680 nm. Chlorophyll is photoionised: electrons are emitted and passed to the electron transport chain. Photolysis of water replaces lost electrons: 2H2O → 4H+ + 4e- + O2.
Photosystem I (PSI)
Absorbs light at 700 nm. Re-energises electrons from the electron transport chain. Electrons reduce NADP+ to reduced NADP (NADPH), catalysed by NADP reductase.

Non-cyclic photophosphorylation (the main pathway; produces ATP, reduced NADP, and O2):

  1. Light absorbed by PSII; chlorophyll is photoionised: electrons are emitted from chlorophyll
  2. Photolysis of water: 2H2O → 4H+ + 4e- + O2; electrons replace those lost from PSII; O2 released as a by-product
  3. Electrons pass along the electron transport chain; energy released pumps H+ from the stroma into the thylakoid lumen (chemiosmosis)
  4. H+ flow back through ATP synthase (from lumen to stroma) → ATP formed (photophosphorylation)
  5. Light absorbed by PSI; chlorophyll is photoionised again: electrons emitted at a higher energy level
  6. Electrons combine with H+ and NADP+reduced NADP (catalysed by NADP reductase)

Products of the light-dependent stage: ATP, reduced NADP (NADPH), O2 (by-product)


Cyclic photophosphorylation (backup pathway; only PS I involved):

  • Electrons from PS I cycle back to PS I via the electron transport chain
  • Only ATP is produced; no reduced NADP and no photolysis (no O2)
  • Occurs when NADP is unavailable (already fully reduced) but ATP is still needed

"Photophosphorylation" means ATP synthesised using light energy. It is not the same as oxidative phosphorylation (which uses energy from reduced NAD/FAD in respiration). The light-dependent stage does not fix CO2 - that happens in the Calvin cycle.

5.2  The Calvin cycle (light-independent reactions)

The Calvin cycle takes place in the stroma of the chloroplast. It uses ATP and reduced NADP from the light-dependent stage to fix CO2 into organic molecules.

RuBP (ribulose bisphosphate)
5-carbon CO2 acceptor molecule. Regenerated at the end of each cycle using ATP.
GP (glycerate-3-phosphate)
3-carbon intermediate. Formed when CO2 combines with RuBP (catalysed by RuBisCO). Reduced to GALP using ATP and reduced NADP.
GALP (triose phosphate)
3-carbon sugar. Used to synthesise organic molecules (glucose, amino acids, fatty acids). Most is used to regenerate RuBP.

Steps of the Calvin cycle:

  1. CO2 combines with RuBP (5C) → unstable 6C intermediate → 2 × GP (3C); catalysed by RuBisCO
  2. GP reduced to GALP using ATP + reduced NADP from the light-dependent stage
  3. Some GALP exported from the cycle to synthesise organic molecules (glucose, starch, amino acids, fatty acids)
  4. Most GALP (5 out of every 6 molecules) used to regenerate RuBP using ATP
CO₂ + RuBP (5C) → 2 × GP (3C) [RuBisCO; CO₂ fixation] 2 × GP (3C) → 2 × GALP (3C) [using ATP + reduced NADP] 5 × GALP (3C) → 3 × RuBP (5C) [using ATP; RuBP regeneration]

Limiting factors of photosynthesis:

  • Light intensity: limits rate of ATP and reduced NADP production in the light-dependent stage; at low light intensity GP accumulates, GALP and RuBP fall
  • CO2 concentration: limits rate of CO2 fixation (the RuBisCO step); at low [CO2] RuBP accumulates, GP and GALP fall
  • Temperature: affects enzyme activity (RuBisCO and other Calvin cycle enzymes); denaturation above optimum

If light intensity falls: less ATP and reduced NADP are produced, so GP cannot be reduced to GALP. Therefore GP accumulates and GALP levels fall. RuBP cannot be regenerated, so RuBP levels also fall. This question type is common in exams - track which step is affected and which intermediates build up or fall.

5.3  Glycolysis and the link reaction

Glycolysis takes place in the cytoplasm. It does not require oxygen and is the first stage of both aerobic and anaerobic respiration.

  1. Glucose (6C) phosphorylated to hexose bisphosphate using 2 ATP (phosphorylation activates the molecule)
  2. Hexose bisphosphate split into 2 × triose phosphate (3C)
  3. Each triose phosphate oxidised to pyruvate (3C): 2 reduced NAD produced and 4 ATP generated (substrate-level phosphorylation)

Net yield per glucose: 2 ATP, 2 reduced NAD, 2 pyruvate


Link reaction takes place in the mitochondrial matrix (aerobic respiration only):

  1. Pyruvate (3C) decarboxylated and dehydrogenated → acetyl CoA (2C) + CO2
  2. NAD reduced to reduced NAD
  3. Catalysed by the pyruvate dehydrogenase complex

Yield per pyruvate: 1 CO2, 1 reduced NAD, 1 acetyl CoA (no ATP produced directly)


Anaerobic respiration regenerates NAD so that glycolysis can continue when oxygen is absent:

Animals (lactate fermentation)
Pyruvate + reduced NAD → lactate + NAD. Catalysed by lactate dehydrogenase. Reversible: lactate transported to the liver and converted back to glucose when O2 is available again.
Plants and yeast (alcoholic fermentation)
Pyruvate → ethanal + CO2 (pyruvate decarboxylase); ethanal + reduced NAD → ethanol + NAD (alcohol dehydrogenase). Irreversible in yeast; ethanol is toxic at high concentrations.

Anaerobic respiration does not produce extra ATP beyond the 2 from glycolysis. Its sole purpose is to regenerate NAD from reduced NAD so that glycolysis can continue. The net ATP yield is only 2 per glucose (compared with ~32 for aerobic respiration).

5.4  Krebs cycle and oxidative phosphorylation

The Krebs cycle takes place in the mitochondrial matrix. Each turn processes one acetyl CoA (so runs twice per glucose molecule).

  1. Acetyl CoA (2C) combines with oxaloacetate (4C) → citrate (6C)
  2. Citrate is decarboxylated and dehydrogenated in a series of steps → oxaloacetate (4C) regenerated
  3. Per turn: 3 reduced NAD, 1 reduced FAD, 1 ATP (substrate-level), 2 CO2
Per glucose (2 turns): 6 reduced NAD, 2 reduced FAD, 2 ATP, 4 CO₂

Oxidative phosphorylation takes place on the inner mitochondrial membrane. It accounts for most of the ATP produced per glucose.

  1. Reduced NAD and reduced FAD donate electrons to the electron transport chain
  2. Electrons pass along the chain (complexes I, II, III, IV); energy released at each step
  3. Energy used to pump H+ from the matrix to the intermembrane space (against concentration gradient)
  4. H+ diffuse back through ATP synthase (chemiosmosis) → ADP + Pi → ATP
  5. At the end of the chain: electrons + H+ + O2 → H2O; oxygen is the final electron acceptor

"Chemiosmosis" refers specifically to the flow of H+ down its electrochemical gradient through ATP synthase. "Oxidative phosphorylation" is the broader process (electron transport chain + chemiosmosis). If O2 is absent, the electron transport chain stops, H+ gradient collapses, and ATP synthase cannot function - aerobic ATP production ceases entirely.


Approximate ATP yield per glucose:

StageLocationATP produced
GlycolysisCytoplasm2 ATP (net, substrate-level)
Link reactionMatrix0 directly
Krebs cycleMatrix2 ATP (substrate-level)
Oxidative phosphorylationInner membrane~28–32 ATP (majority of total)

5.5  Energy and ecosystems

Gross primary productivity (GPP)
Total energy fixed by producers through photosynthesis per unit area per unit time (kJ m-2 yr-1 or kJ ha-1 yr-1).
Net primary productivity (NPP)
Energy available to consumers at the next trophic level. NPP = GPP − R (where R = energy lost by the plant in respiration).
Net production of consumers (N)
N = I − (F + R) where I = chemical energy in ingested food; F = energy lost in faeces and urine; R = respiratory losses. N is available for growth and reproduction and is passed to the next trophic level.
Biomass and calorimetry
Biomass measured as dry mass of tissue per given area (after removal of water at ~80°C). Chemical energy stored in dry biomass estimated by calorimetry: burn a known mass; measure temperature rise of a known mass of water; calculate energy in kJ g-1.

Productivity is the rate of primary or secondary production: measured as biomass per unit area per unit time (e.g. kJ ha-1 yr-1). Primary productivity = by producers; secondary productivity = by consumers.

Energy losses between trophic levels (~90% lost at each step):

  • Respiration: heat energy lost to surroundings
  • Uneaten material: parts of organisms not consumed
  • Undigested material: lost in faeces (egestion)
  • Excretion: energy lost in urine and other nitrogenous waste (distinct from egestion)

Only ~10% of energy at one trophic level is transferred to the next. This limits the length of food chains (usually 4–5 levels).


Nitrogen cycle:

Nitrogen fixation
N2 → NH3/NH4+. Carried out by Rhizobium (in root nodules of legumes) and free-living Azotobacter. Also by lightning and the industrial Haber process.
Nitrification
NH4+ → NO2- (Nitrosomonas) → NO3- (Nitrobacter). Aerobic process; produces nitrate available for plant uptake.
Denitrification
NO3- → N2. Carried out by anaerobic bacteria in waterlogged soils. Removes nitrogen from soil; reduces fertility.
Ammonification
Organic nitrogen (proteins, urea, dead organisms) → NH4+. Carried out by decomposers (bacteria and fungi).

Agricultural practices to increase efficiency of energy transfer:

  • Simplifying food webs: monocultures and removal of competing organisms (weeds, pests) reduce energy losses to non-human food chains; more energy available to the human crop
  • Reducing respiratory losses: housing livestock indoors (controlled temperature); restricting movement; selective breeding for rapid growth; all reduce energy lost to respiration within the human food chain
  • Fertilisers: replace minerals removed by harvest; increase plant growth; risk of eutrophication if leached into water

Nutrient cycles - nutrients recycled within natural ecosystems. Microorganisms play a vital role.

Nitrogen cycle - key processes:

Saprobiotic nutrition / Ammonification
Saprobionts (decomposers - bacteria and fungi) secrete enzymes, digest dead organic matter extracellularly, and absorb products. Organic nitrogen (proteins, urea) broken down → ammonium ions (NH4+) released into the soil.
Nitrification
NH4+ → NO2- (Nitrosomonas) → NO3- (Nitrobacter). Aerobic. Produces nitrate ions available for plant uptake via root hair cells.
Nitrogen fixation
N2 → NH3/NH4+. By Rhizobium (mutualistic, in root nodules of legumes) and free-living Azotobacter. Also by lightning and the industrial Haber process.
Denitrification
NO3- → N2. Anaerobic bacteria in waterlogged soils. Removes nitrogen from the soil; reduces fertility. Avoided by improving soil drainage.

Mycorrhizae: mutualistic associations between fungi and plant roots. Fungal hyphae greatly increase the surface area for absorption of water and inorganic ions (especially phosphate), which are passed to the plant. Plant provides organic carbon to the fungus.


Phosphorus cycle (outline):

  • Phosphate ions in soil taken up by plants; passed to consumers through feeding
  • Decomposers break down organic matter → inorganic phosphate returned to soil
  • Phosphate can be locked in rocks (sedimentary); released by weathering over long timescales
  • Leaching: soluble phosphate washed from soil into waterways → eutrophication

Fertilisers (natural: manure, compost; artificial: ammonium nitrate, superphosphate) replace nitrates and phosphates lost by harvesting plants and removing livestock. Environmental issue: leaching - soluble ions washed into rivers/lakes → eutrophication: algal bloom → blocks light → plants die → decomposers increase → BOD rises → oxygen depletion → aquatic organisms die.

Topic 6 - Organisms respond to changes in their internal and external environments

6.1  Stimuli, receptors and nervous communication

A receptor is a cell or organ that detects a stimulus and converts its energy into a nerve impulse (electrical energy). This conversion is called transduction.

Pacinian corpuscle (example of a mechanoreceptor):

  • Concentric layers of connective tissue (lamellae) surround a sensory neurone ending
  • Pressure deforms the lamellae, which stretch the neurone membrane
  • Stretch-mediated Na+ channels open → Na+ enters → generator potential (local depolarisation)
  • If the generator potential reaches the threshold → an action potential is triggered in the sensory neurone

Sensory neurone
Carries impulses from receptors to the CNS. Cell body in dorsal root ganglion; long dendron from receptor.
Relay (interneurone)
Located within the CNS. Connects sensory and motor neurones; forms complex pathways in the brain and spinal cord.
Motor neurone
Carries impulses from the CNS to effectors (muscles or glands). Long axon; cell body in the CNS.

Myelinated neurone
Myelin sheath formed by Schwann cells wrapping around the axon. Acts as an electrical insulator. Gaps = nodes of Ranvier. Saltatory conduction: impulse jumps from node to node; much faster than continuous conduction.
Unmyelinated neurone
No myelin sheath; depolarisation travels continuously along the axon membrane. Slower conduction velocity. Found in autonomic nervous system and pain fibres.

Simple responses maintaining organisms in a favourable environment:

Taxis
Directional movement toward (positive) or away from (negative) a stimulus. Direction depends on the stimulus direction. Example: Euglena positive phototaxis (moves toward light); woodlice negative phototaxis.
Kinesis
Non-directional change in rate of movement or turning frequency in response to stimulus intensity (not direction). The organism does not move toward/away from the stimulus. Example: woodlice increase turning frequency in dry conditions → spend more time in moist areas.

Simple (spinal) reflex arc - protective; rapid, involuntary, stereotyped response:

  1. Receptor detects stimulus → generator potential → action potential in sensory neurone
  2. Impulse travels to spinal cord → sensory neurone synapses with relay (interneurone) in dorsal horn
  3. Relay neurone synapses with motor neurone
  4. Motor neurone carries impulse to effector (muscle or gland) → response

The reflex bypasses conscious processing (though the brain is informed via collateral fibres). This gives a very short response time, which is protective (e.g. withdrawal from pain).


The human retina - rods vs cones:

Rod cells
Contain rhodopsin (single pigment). Sensitive to low light intensities. Many rods connect to a single bipolar → a single ganglion cell (convergence / retinal summation) → low visual acuity but high sensitivity. Absent from the fovea; most numerous at periphery.
Cone cells
Contain one of three iodopsin pigments (red, green, or blue sensitive). Function in bright light; provide colour vision and high visual acuity (each cone connects to its own ganglion cell - no summation). Concentrated at the fovea.

Visual acuity depends on one-to-one connections (cones at fovea). Sensitivity at low light depends on summation (many rods share one ganglion cell). The fovea has no rods, so looking directly at a dim star makes it disappear - use peripheral vision to keep it visible.

6.2  Control of heart rate

Myogenic stimulation: the heart generates its own rhythmic electrical impulses - it does not require nerve input to beat (intrinsic control). This originates in the sinoatrial node (SAN).

  1. SAN (in the right atrial wall) generates a wave of electrical excitation → spreads across both atria → atria contract
  2. Impulse reaches the atrioventricular node (AVN), which introduces a brief delay (allows atria to finish emptying)
  3. Impulse passes down the bundle of His (Purkyne fibres) in the interventricular septum → spreads through ventricular walls from the apex upward → ventricles contract

Extrinsic control - the cardiovascular centre in the medulla oblongata modifies heart rate via the autonomic nervous system:

Sympathetic nervous system
Releases noradrenaline at the SAN → heart rate increases. Also stimulated by adrenaline (from adrenal medulla). Response to exercise, stress, or low blood pressure.
Parasympathetic nervous system
Releases acetylcholine (via vagus nerve) at the SAN → heart rate decreases. Dominant at rest. Restores normal rate after exercise.

Receptors providing feedback to the cardiovascular centre:

  • Chemoreceptors: in the aortic arch, carotid bodies, and medulla. Detect changes in blood CO2, O2, and pH. Rising CO2 / falling pH → increased heart rate signal.
  • Pressure receptors (baroreceptors): in the aortic arch and carotid sinus. Detect blood pressure. High pressure → increased parasympathetic impulses → heart rate decreases (and vice versa).

Do not confuse myogenic (intrinsic) rhythm with extrinsic control. The SAN sets the basic rate; the autonomic nervous system adjusts it. A transplanted heart still beats because SAN activity is intrinsic - but it cannot speed up quickly during exercise without nerve control.

6.3  Nerve impulses and synapses

Resting potential (−70 mV): the inside of the neurone is negative relative to the outside. Maintained by:

  • Na+/K+ ATPase actively pumps 3 Na+ out and 2 K+ in per cycle
  • K+ leak channels allow K+ to diffuse back out down its concentration gradient
  • Net result: more positive ions outside than inside → inside is negative

Action potential (all-or-nothing; only fires if stimulus exceeds threshold of ~−55 mV):

  1. Depolarisation: voltage-gated Na+ channels open; Na+ rushes in; inside becomes positive (reaches ~+40 mV)
  2. Repolarisation: Na+ channels inactivate; voltage-gated K+ channels open; K+ rushes out; inside returns toward −70 mV
  3. Hyperpolarisation: K+ channels remain briefly open; slight overshoot below −70 mV
  4. K+ channels close; Na+/K+ pump restores resting potential

Refractory period: Na+ channels remain inactivated; another action potential cannot be generated immediately. This ensures unidirectional transmission (the impulse cannot travel backwards) and limits the maximum firing frequency.

The all-or-nothing principle means stimulus intensity is coded by frequency of action potentials, not by the size of each impulse. A stronger stimulus produces more impulses per second, not larger ones.


Cholinergic synapse (events at an excitatory synapse using acetylcholine):

  1. Action potential arrives at the pre-synaptic knob → voltage-gated Ca2+ channels open → Ca2+ enters
  2. Ca2+ causes synaptic vesicles to fuse with the pre-synaptic membrane → ACh released by exocytosis
  3. ACh diffuses across the synaptic cleft → binds to ligand-gated Na+ channels on the post-synaptic membrane
  4. Na+ channels open → depolarisation → new action potential generated (if threshold is reached)
  5. Acetylcholinesterase (in the cleft) hydrolyses ACh → choline + acetate; response ends; cleft cleared
  6. Choline taken back into the pre-synaptic knob and recycled into ACh (using acetyl CoA)
Spatial summation
Multiple pre-synaptic neurones release ACh simultaneously onto the same post-synaptic membrane; combined depolarisations may reach the threshold.
Temporal summation
Rapid successive action potentials from a single pre-synaptic neurone; ACh accumulates in the cleft before it is hydrolysed; combined effect may reach the threshold.

Inhibitory synapses: release inhibitory neurotransmitters (e.g. GABA) that open Cl- or K+ channels on the post-synaptic membrane → the membrane becomes hyperpolarised (more negative, e.g. −80 mV) → threshold is harder to reach → action potential less likely. Inhibitory and excitatory post-synaptic potentials summate; the net effect determines whether an action potential fires.


Neuromuscular junction (NMJ) vs cholinergic synapse:

Similarities
Both use ACh as neurotransmitter; both release ACh by exocytosis triggered by Ca2+; ACh hydrolysed by acetylcholinesterase; unidirectional.
Differences
NMJ: always excitatory; post-synaptic cell is a muscle fibre (not a neurone); motor end-plate has many folded receptor regions (increases ACh receptor surface area); single NMJ impulse usually sufficient to trigger muscle contraction (no summation needed).

6.4  Skeletal muscle contraction

Sarcomere structure (the contractile unit, between two Z lines):

A band
Full length of myosin (thick) filaments. Does not shorten during contraction. Contains overlapping actin and myosin.
I band
Actin only (thin filaments); no myosin. Shortens during contraction as actin is pulled toward the M line.
H zone
Myosin only; no overlapping actin. Shortens during contraction as overlap increases.
Z line
Boundary of the sarcomere; actin attached. Z lines move closer together during contraction.
Tropomyosin
Protein wound around actin filaments. At rest, covers the myosin-binding sites on actin, preventing cross-bridge formation.
Troponin
Holds tropomyosin in position. Has a Ca2+ binding site. When Ca2+ binds, troponin changes shape, moving tropomyosin away from the binding sites.

Sliding filament mechanism:

  1. Action potential arrives at the neuromuscular junction; ACh released; T-tubule membrane depolarised
  2. Ca2+ released from the sarcoplasmic reticulum into the sarcoplasm
  3. Ca2+ binds troponin → conformational change → tropomyosin displaced → myosin-binding sites on actin exposed
  4. Myosin head (cocked, with ADP + Pi bound) attaches to actin → cross-bridge formed
  5. Power stroke: Pi then ADP released → myosin head pivots → actin filament pulled toward M line → sarcomere shortens
  6. ATP binds to myosin head → cross-bridge detaches
  7. Myosin ATPase hydrolyses ATP → ADP + Pi; myosin head recocked to original position
  8. Cycle repeats while Ca2+ and ATP are present

Relaxation: Ca2+ pumped back into the sarcoplasmic reticulum (active transport; requires ATP) → tropomyosin returns → myosin-binding sites covered → no cross-bridges → sarcomere lengthens.

ATP has two roles in muscle contraction: (1) its hydrolysis by myosin ATPase powers the detachment of the myosin head after the power stroke; (2) it powers the active transport of Ca2+ back into the sarcoplasmic reticulum during relaxation. Rigor mortis occurs after death because ATP is depleted - myosin heads cannot detach from actin.


Phosphocreatine (PCr): a short-term store of phosphate in muscle. At the onset of intense exercise, when ATP demand exceeds supply from respiration: PCr + ADP → creatine + ATP (catalysed by creatine kinase). This rapidly regenerates ATP but stores last only ~10 seconds. PCr is resynthesised during recovery using ATP from aerobic respiration.


Slow and fast skeletal muscle fibres:

Slow-twitch (type I) fibres
Many mitochondria; dense capillary network; rich in myoglobin (stores O2; gives red colour). Contract slowly; resistant to fatigue. Used for sustained, low-intensity activity (e.g. posture, long-distance running).
Fast-twitch (type II) fibres
Fewer mitochondria; less myoglobin (pale/white); large store of glycogen and PCr. Contract rapidly and powerfully; fatigue quickly (rely on anaerobic respiration). Used for short bursts of intense activity (e.g. sprinting, jumping).

Antagonistic muscle pairs: muscles work in antagonistic pairs against an incompressible skeleton. When one muscle contracts (agonist), the other relaxes (antagonist). Example: biceps (flexor) and triceps (extensor) at the elbow - biceps contracts to flex; triceps contracts to extend. Muscles can only pull, not push - they generate force only when shortening.

6.5  Homeostasis and thermoregulation

Homeostasis is the maintenance of a stable internal environment (temperature, blood glucose, water potential) within narrow limits, despite changes in the external environment.

Negative feedback loop: receptor detects deviation from the set point → control centre (e.g. hypothalamus) processes signal → effectors act to reverse the change → receptor detects return to set point → effectors switched off.


Ectotherm
Body temperature depends on external heat sources. Lower metabolic rate. Use behavioural responses (basking, seeking shade, orientation to sun). Examples: reptiles, insects.
Endotherm
Generate heat metabolically; maintain a constant core temperature regardless of environment. Higher metabolic rate; greater energy demand. Examples: mammals, birds.

Thermoregulation in mammals (hypothalamus acts as thermostat):

Too hot:

  • Vasodilation: arterioles in skin dilate; more blood flows to skin surface; heat lost by radiation and convection
  • Sweating: water evaporates from skin surface; latent heat of vaporisation cools the body
  • Hairs lie flat (erector muscles relax); reduces insulating air layer
  • Metabolic rate decreases

Too cold:

  • Vasoconstriction: arterioles in skin constrict; less blood to skin surface; reduced heat loss
  • Shivering: involuntary muscle contractions; generate heat by cellular respiration
  • Piloerection: erector muscles contract; hairs stand up; trap an insulating layer of air
  • Metabolic rate increases (thyroxine and adrenaline released)

6.6  Blood glucose regulation and diabetes

Blood glucose is monitored by alpha (α) and beta (β) cells in the islets of Langerhans of the pancreas.

High blood glucose (e.g. after a meal):

  • β cells secrete insulin
  • Insulin binds to receptors on liver, muscle, and adipose cells
  • More glucose transporter proteins inserted into cell membranes → increased glucose uptake
  • Glycogenesis: glucose → glycogen (stored in liver and muscle)
  • Increased cellular respiration; increased fat synthesis
  • Blood glucose falls

Low blood glucose (e.g. during fasting or exercise):

  • α cells secrete glucagon
  • Glucagon binds to receptors on liver cells only
  • Glycogenolysis: glycogen → glucose
  • Gluconeogenesis: amino acids, lactate, and glycerol converted to glucose
  • Blood glucose rises

Type 1 diabetes
Autoimmune destruction of β cells; no insulin produced. Treated with subcutaneous insulin injections. Insulin produced commercially using recombinant DNA technology (human insulin gene inserted into bacteria or yeast).
Type 2 diabetes
Liver and muscle cells become insulin-resistant (receptors down-regulated). Strongly associated with obesity. Managed by diet and exercise; oral hypoglycaemics (e.g. metformin); sometimes insulin injections.

Adrenaline (released from the adrenal medulla in response to stress or exercise):

  • Binds to receptors on liver (and muscle) cell surfaces
  • Activates enzymes that convert glycogen → glucose (glycogenolysis) → rapid rise in blood glucose for "fight or flight"

Second messenger model (for adrenaline and glucagon - both use cAMP as second messenger):

  1. Hormone (first messenger) binds to a G-protein coupled receptor on the cell surface
  2. Receptor activates adenylate cyclase (via G protein) in the cell membrane
  3. Adenylate cyclase converts ATP → cyclic AMP (cAMP) inside the cell
  4. cAMP activates protein kinase A, which phosphorylates target enzymes
  5. Phosphorylation activates glycogen phosphorylase (breaks down glycogen) and inhibits glycogen synthase → blood glucose rises

The hormone cannot enter the cell (too large/hydrophilic), so cAMP acts as the intracellular signal. This system amplifies the signal: one hormone molecule → many adenylate cyclase molecules activated → many cAMP molecules → many enzyme molecules activated.

Glucagon has no effect on muscle because muscle cells lack glucagon receptors. Muscle cannot release glucose back into the blood (it lacks glucose-6-phosphatase). Only the liver can export glucose during glycogenolysis and gluconeogenesis. Adrenaline, however, does act on muscle (muscle cells have adrenaline receptors) to stimulate glycogenolysis for local energy use.

6.7  Kidney structure and osmoregulation

Nephron regions and their roles:

  1. Bowman's capsule / glomerulus: ultrafiltration
  2. Proximal convoluted tubule (PCT): selective reabsorption of all glucose, amino acids, and most water
  3. Loop of Henle: creates an osmotic gradient in the medulla (countercurrent multiplier)
  4. Distal convoluted tubule (DCT): fine adjustment of ion and water balance; responds to aldosterone and ADH
  5. Collecting duct: variable water reabsorption regulated by ADH

Ultrafiltration:

  • Afferent arteriole is wider than the efferent arteriole → high hydrostatic pressure in the glomerular capillary
  • Small molecules forced through the fenestrated endothelium, basement membrane, and podocyte foot processes into Bowman's capsule
  • Filtrate contains: water, glucose, urea, amino acids, ions
  • Retained in blood: red blood cells, large proteins (too large to pass through the basement membrane)

Selective reabsorption (PCT):

  • All glucose and amino acids reabsorbed by co-transport with Na+ (secondary active transport)
  • Na+/K+ ATPase on basolateral surface maintains low [Na+] inside cell; Na+ diffuses in with glucose
  • PCT cells have microvilli (brush border) to increase surface area; many mitochondria for ATP supply
  • Most water reabsorbed by osmosis

Loop of Henle (countercurrent multiplier):

  • Descending limb: permeable to water, impermeable to ions; water leaves by osmosis → filtrate becomes more concentrated
  • Ascending limb: impermeable to water; Na+ and Cl- actively pumped out → medullary interstitium becomes increasingly concentrated
  • Creates a steep osmotic gradient (low water potential) in the medulla → concentrated urine possible

Osmoregulation (ADH):

  • Osmoreceptor cells in the hypothalamus detect blood water potential
  • Low water potential (dehydration): more ADH released from the posterior pituitary; collecting duct becomes more permeable to water (more aquaporin water channels inserted); more water reabsorbed; concentrated urine produced
  • High water potential: less ADH; fewer aquaporins; more dilute urine produced

6.8  Plant responses

Auxin (IAA) and phototropism (Cholodny-Went hypothesis):

  1. IAA produced in the shoot tip
  2. Unilateral light causes IAA to migrate laterally to the shaded side
  3. Higher IAA concentration on shaded side promotes cell elongation (IAA activates proton pumps → cell wall acidifies and loosens → cells elongate)
  4. Shaded side elongates more than the illuminated side → shoot bends toward the light

Gravitropism (geotropism):

  • Shoots: negative gravitropism (grow away from gravity); roots: positive gravitropism (grow toward gravity)
  • Roots are more sensitive to IAA than shoots; high IAA concentration on the lower side inhibits growth on that side; root bends downward

Gibberellins:

  • Promote stem elongation (cell elongation and division)
  • Break seed dormancy and stimulate seed germination (activate amylase to digest starch in the endosperm)
  • Commercial uses: producing larger, seedless fruits (e.g. grapes); promoting germination in barley for the brewing industry; controlling plant height

IAA promotes growth in shoots but inhibits growth in roots (at the same concentration). This is because root cells are more sensitive to IAA; the concentration that is optimal for shoot elongation is supraoptimal (inhibitory) for roots. Do not confuse auxin with gibberellin: auxin drives tropisms; gibberellin drives stem elongation and seed germination.

Topic 7 - Genetics, populations, evolution and ecosystems

7.1  Inheritance

Genotype
The genetic constitution of an organism - the alleles it carries at a given locus (e.g. Aa, BB, XY).
Phenotype
The expression of the genotype and its interaction with the environment - the observable characteristics of an organism.
Homozygous
Both alleles at a locus are identical (e.g. AA or aa). An organism homozygous for a recessive allele will express the recessive phenotype.
Heterozygous
The two alleles at a locus are different (e.g. Aa). The dominant allele is expressed (unless codominance applies).
Codominance
Both alleles are expressed in the heterozygote. Example: ABO blood group (IA and IB are codominant; both expressed → blood group AB). Neither allele is dominant over the other.
Multiple alleles
More than two alleles exist for a single gene in a population (though each individual carries at most two). Example: ABO blood group (IA, IB, i).
Sex linkage
Gene located on the X chromosome; males (XY) are hemizygous (only one copy). X-linked recessive conditions (e.g. haemophilia, red-green colour blindness) are more common in males. Carrier females are unaffected but can pass the allele to sons.
Autosomal linkage
Two genes on the same (non-sex) chromosome; tend to be inherited together. Crossing over can separate linked alleles; recombinant offspring appear. Lower recombinant frequency = genes are closer together on the chromosome.

Epistasis: one gene masks or suppresses the expression of another gene at a different locus. The masking gene is epistatic; the masked gene is hypostatic. This produces modified dihybrid ratios (e.g. 9:3:3:1 becomes 9:7, 12:3:1, 9:3:4, or 15:1 depending on the type of epistasis).


F2 expected ratios: monohybrid (Aa × Aa) → 3 dominant : 1 recessive; dihybrid (AaBb × AaBb, unlinked) → 9:3:3:1.

Chi-squared test2): tests whether observed ratios differ significantly from expected ratios (e.g. 3:1 or 9:3:3:1).

χ² = Σ(O − E)² / E Degrees of freedom = number of classes − 1 Compare to critical value at p = 0.05

If χ2 is less than the critical value: difference is not significant; due to chance; the null hypothesis (data fits the expected ratio) is accepted. If greater than the critical value: difference is significant; data does not fit the expected ratio.

7.2  Hardy-Weinberg principle

The Hardy-Weinberg principle states that, in a population where certain conditions are met, allele frequencies do not change between generations.

p + q = 1 (allele frequencies; p = freq. of A; q = freq. of a) p² + 2pq + q² = 1 (genotype frequencies) p² = frequency of AA (homozygous dominant) 2pq = frequency of Aa (heterozygous carrier) q² = frequency of aa (homozygous recessive)

Conditions for Hardy-Weinberg equilibrium:

  • Large population size (minimises genetic drift)
  • Random mating (no sexual selection)
  • No natural selection (all genotypes equally fertile and viable)
  • No mutation (no new alleles introduced)
  • No migration (no gene flow in or out)

Application: if the frequency of a recessive phenotype (q2) is known, calculate q = √q2, then p = 1 − q, and find carrier (heterozygous) frequency = 2pq.

If allele frequencies change between generations, one or more Hardy-Weinberg conditions must be violated and evolution is occurring. This makes H-W a useful null hypothesis for detecting selection or other evolutionary forces in real populations.

7.3  Evolution and speciation

Natural selection:

  1. Variation exists in a population (from mutations and sexual reproduction)
  2. A selection pressure (predation, disease, climate) favours individuals with certain phenotypes
  3. Favoured individuals are more likely to survive and reproduce (differential reproduction)
  4. Advantageous alleles passed to more offspring → allele frequency increases over generations
Directional selection
One extreme phenotype is favoured; the mean of the trait shifts in that direction; variation is reduced. Example: antibiotic resistance in bacteria.
Stabilising selection
Intermediate phenotypes are favoured; both extremes are selected against; variation is reduced around the mean. Example: human birth weight.
Disruptive selection
Both extremes are favoured; intermediate phenotypes selected against; can produce a bimodal distribution. Can lead to sympatric speciation.

Evolution is defined as a change in allele frequency in a gene pool over generations.

Sources of genetic variation:

  • Gene mutation: random, heritable changes to DNA base sequences; produce new alleles
  • Chromosome mutation: non-disjunction during meiosis produces gametes with an abnormal number of chromosomes (e.g. trisomy), creating new combinations of genetic material
  • Meiosis: independent assortment of chromosomes produces new combinations of alleles; crossing over during prophase I creates recombinant chromosomes
  • Random fertilisation: any two gametes may fuse, further shuffling allele combinations

Genetic drift: random changes in allele frequency due to chance sampling effects. Most significant in small populations (where chance events have a proportionally larger effect). An allele may be lost entirely or become fixed regardless of whether it is advantageous. Genetic drift is not directional - unlike natural selection. Example: the founder effect (a small group colonises a new area; limited gene pool represents chance allele frequencies of the founders).


Speciation = the formation of new species through the development of reproductive isolation.

Allopatric speciation:

  1. A geographical barrier (mountain range, sea, river) separates a population into two sub-populations
  2. Sub-populations evolve independently: different selection pressures act; genetic drift also occurs
  3. Allele frequencies diverge; different mutations accumulate
  4. Reproductive isolation develops; if the barrier is removed, the two groups can no longer interbreed to produce fertile offspring
  5. New species formed

Sympatric speciation: reproductive isolation within the same geographic area (due to ecological niche differences, seasonal breeding differences, behavioural isolation, or polyploidy in plants).

7.4  Ecosystems, succession and conservation

A community = all the populations of different species in an area. An ecosystem = community + its non-living (abiotic) environment.

Within a habitat, each species occupies a niche - its role and position in the ecosystem, determined by all the biotic and abiotic conditions to which it is adapted (what it eats, when it is active, where it lives, etc.). Two species cannot occupy exactly the same niche indefinitely (competitive exclusion).

Biotic factors (living): predation, competition, disease, parasitism, mutualism. Abiotic factors (non-living): temperature, light intensity, pH, water availability, mineral concentration, oxygen levels.

Population size is determined by:

  • Birth rate (natality) and death rate (mortality)
  • Immigration (individuals entering) and emigration (individuals leaving)
  • Carrying capacity (K): maximum stable population size the environment can support; set by availability of resources
Intraspecific competition
Competition within the same species for limited resources (food, territory, mates). Intensifies as population approaches the carrying capacity; acts as a density-dependent regulating factor.
Interspecific competition
Competition between different species for shared resources. The competitive exclusion principle: two species occupying the same niche cannot coexist indefinitely; one will outcompete the other.

Succession: progressive change in species composition over time as organisms modify their environment.

Primary succession
Begins on bare inorganic substrate with no soil (e.g. bare rock after volcanic eruption, sand dunes). Pioneer species colonise; organic matter accumulates; soil forms; more complex communities replace earlier ones.
Secondary succession
Occurs on land that previously supported a community but was disturbed (e.g. cleared forest, abandoned farmland). Soil already present; proceeds faster than primary succession.

Each seral stage modifies the abiotic environment (adds organic matter, alters microclimate, reduces hostility), making it more suitable for other species. The new species may in turn make conditions less suitable for the previous pioneer species. Succession continues until a stable climax community is reached. Conservation of habitats frequently involves management of succession (e.g. mowing, coppicing, controlled burning) to maintain an earlier seral stage with greater biodiversity than the climax.


Estimating population size:

Quadrats and belt transects
Used for slow-moving or non-motile organisms (plants, barnacles). Randomly placed quadrats estimate species frequency/density. Belt transects: quadrats placed at regular intervals along a line - used where species distribution changes along an environmental gradient.
Mark-release-recapture
Used for motile organisms. Capture sample 1 (N1); mark distinctively; release. Later capture sample 2 (N2); count marked individuals recaptured (n). Population estimate = N1 × N2 ÷ n (Lincoln index).

Assumptions of mark-release-recapture:

  • Mark does not affect survival, behaviour, or probability of recapture
  • Sufficient time for marked individuals to randomly mix back into population
  • No significant immigration, emigration, births, or deaths between the two samples
  • Marks are not lost between capture events

In-situ conservation
Protection of species in their natural habitat. Examples: nature reserves, national parks, SSSIs, habitat corridors, managing invasive species. Maintains natural behaviours and ecological relationships.
Ex-situ conservation
Protection outside natural habitat. Examples: zoos, aquaria, botanic gardens, seed banks (e.g. Svalbard), captive breeding with reintroduction programmes. Prevents extinction when habitat is lost.

Both in-situ and ex-situ conservation are needed. In-situ is preferred because it maintains natural selection and ecological relationships; ex-situ is a safety net when in-situ is not viable. Maintaining biodiversity is important for food security, medicine (e.g. drug discovery), gene pool preservation for selective breeding, and ecosystem services.

Topic 8 - The control of gene expression

8.1  Gene mutations

A gene mutation is a change to the base sequence of DNA. Mutations occur spontaneously during DNA replication; the rate is increased by mutagenic agents (ionising radiation, UV light, certain chemicals such as base analogues and intercalating agents).

Substitution
One base replaced by another. May change a single codon. Due to the degenerate genetic code (multiple codons code for the same amino acid), many substitutions are silent (no change to amino acid sequence). Others are missense (different amino acid) or nonsense (premature stop codon).
Addition / Deletion
A base is inserted or removed. Causes a frameshift: all codons downstream of the mutation are altered → a completely different amino acid sequence from that point; usually produces a non-functional protein. Deletions and additions of 3 (or multiples of 3) bases do not cause a frameshift.
Inversion
A sequence of bases is reversed within the gene. Affects only the codons in the inverted region.
Duplication / Translocation
Duplication: a sequence of bases is repeated. Translocation: a sequence is moved to a different position in the genome. Both alter the reading frame or gene dosage.

Frame-shift mutations (addition/deletion of non-multiples of 3) are usually more severe than substitutions because every codon after the mutation is altered. Substitutions affect only a single codon - and may have no effect at all if the new codon codes for the same amino acid (degenerate code).

8.2  Stem cells and cell differentiation

Cell differentiation is the process by which an unspecialised cell becomes structurally and functionally specialised. All cells in an organism contain the same DNA; different cells express different genes (differential gene expression).

Totipotent
Can differentiate into any cell type, including extra-embryonic cells (e.g. placenta). Found only in the fertilised egg and the very early embryo (up to ~8 cells).
Pluripotent
Can differentiate into any body cell type but not extra-embryonic cells. Embryonic stem cells (inner cell mass, days 4–5 post-fertilisation).
Multipotent
Can differentiate into a limited range of related cell types. Example: haematopoietic (bone marrow) stem cells → all blood cell types.
Unipotent
Can only differentiate into one specific cell type. Example: some adult tissue stem cells (e.g. hepatic stem cells → liver cells only).

Induced pluripotent stem cells (iPSCs): adult somatic cells reprogrammed back to a pluripotent state by introducing specific transcription factors (Yamanaka factors). Avoids the ethical issues associated with destroying embryos. Potential for patient-matched cell therapies (low rejection risk).

Therapeutic uses of stem cells: bone marrow transplants (haematopoietic stem cells) to treat leukaemia; potential future applications include replacing damaged cardiac tissue, neural repair in spinal cord injury, and generating insulin-secreting β cells for type 1 diabetes. Ethical issues surround the destruction of embryos to obtain pluripotent cells.

8.3  Epigenetics and gene regulation

Transcription factors: proteins that bind to specific DNA sequences (promoter or enhancer regions) to activate or inhibit transcription. They control which genes are expressed in a given cell.

Example: oestrogen (a steroid hormone) diffuses through the cell membrane → binds to an intracellular receptor → the hormone-receptor complex enters the nucleus and acts as a transcription factor → activates transcription of target genes.


Epigenetics: heritable changes in gene expression that do not involve changes to the DNA base sequence itself.

DNA methylation
Methyl groups (−CH3) added to cytosine bases (at CpG sites) by methyltransferase enzymes. Methylated DNA → condensed chromatin → RNA polymerase cannot access → gene silenced (switched off). Methylation increases during differentiation.
Histone acetylation
Acetyl groups added to lysine residues on histone tails by acetyltransferase. Reduces positive charge on histones → DNA unwinds from histones → chromatin decondenses → gene expression increases. Deacetylation reverses this (chromatin condenses; gene expression decreases).

Epigenetic changes can be influenced by environmental factors: diet, lifestyle, stress, and toxins can alter methylation and acetylation patterns. Some epigenetic marks are heritable across cell divisions.


The lac operon (prokaryotic gene regulation in E. coli):

The operon contains structural genes lacZ, lacY, and lacA encoding enzymes for lactose metabolism, controlled by a single promoter and operator.

No lactose present
The lacI gene continuously produces lac repressor protein. Repressor binds to the operator sequence → RNA polymerase blocked → structural genes are not transcribed.
Lactose present
Allolactose (an inducer, formed from lactose) binds to the repressor → conformational change → repressor cannot bind operator → RNA polymerase proceeds → structural genes transcribed → enzymes produced to metabolise lactose.

Catabolite repression (glucose effect):

  • Glucose present: low cAMP; CAP (catabolite activator protein) inactive; even if lactose present, transcription is weak (cell preferentially uses glucose)
  • Glucose absent: cAMP levels rise; CAP-cAMP complex binds to the CAP site upstream of the promoter → greatly enhances RNA polymerase binding → strong transcription of the lac genes

RNA interference (RNAi): in eukaryotes (and some prokaryotes), small double-stranded RNA molecules (siRNA or miRNA) can inhibit translation of specific mRNA sequences. The siRNA binds to complementary mRNA → the mRNA is cleaved and degraded by the RISC complex → protein is not produced. RNAi is a natural mechanism for gene regulation and protection against viruses; it is also exploited as a research tool to silence specific genes.


Gene expression and cancer:

Benign tumour
Mass of cells that does not invade surrounding tissue and does not metastasise (spread). Grows slowly; encapsulated. Can still cause problems by pressing on nearby structures.
Malignant tumour
Cancerous; cells invade surrounding tissue and can break away to form secondary tumours elsewhere (metastasis). Result of uncontrolled cell division due to mutations in cell-cycle genes.
Tumour suppressor genes
Normally inhibit cell division or promote apoptosis (e.g. p53). If mutated or silenced → uncontrolled division. Abnormal hypermethylation of the promoter can silence tumour suppressor genes even without a DNA sequence mutation.
Oncogenes
Mutated versions of normal proto-oncogenes (which promote cell division). Oncogenes are overactive → promote excessive cell division. Can be activated by mutation or by hypomethylation of their promoter region.

Oestrogen and breast cancer: increased oestrogen concentrations can stimulate the transcription of genes that promote cell proliferation in breast tissue. Some breast cancers have oestrogen receptors; treatments such as tamoxifen block oestrogen receptor activity to slow tumour growth.

8.4  Gene technologies

Producing DNA fragments - three methods:

cDNA (complementary DNA)
mRNA extracted from cells where the target gene is expressed → reverse transcriptase converts mRNA → single-stranded cDNA → DNA polymerase makes it double-stranded. Advantage: contains no introns (already spliced); can be expressed in prokaryotic hosts that cannot splice pre-mRNA.
Restriction enzymes
Cut DNA at specific palindromic recognition sequences, leaving sticky ends. The same enzyme is used to cut the vector, producing complementary sticky ends for ligation.
Gene machine
Automated chemical synthesis of a DNA sequence from scratch, based on the known amino acid/codon sequence. Allows any gene to be made without a natural template.

Amplifying DNA fragments:

  • In vitro (PCR): rapid amplification outside cells (see below)
  • In vivo: DNA fragment inserted into a vector → vector transformed into host cells (bacteria or yeast) → host cells cultured; replicate and produce millions of copies of the recombinant DNA

Recombinant DNA technology:

  1. DNA fragment produced (cDNA, restriction enzyme cut, or gene machine)
  2. Fragment ligated into a vector using DNA ligase; promoter and terminator regions added flanking the gene so it is expressed in the host
  3. Vector (plasmid or viral) introduced into host cells by transformation (electroporation, heat shock, or liposomes)
  4. Marker genes (antibiotic resistance or fluorescent markers) used to identify GM cells that have taken up the vector
  5. Transgenic organism produces the desired protein (e.g. human insulin from bacteria)

PCR (polymerase chain reaction) exponentially amplifies a specific DNA target sequence:

  1. Denaturation: ~95°C; hydrogen bonds broken; two strands separate
  2. Annealing: ~55–65°C; short complementary primers bind to either end of the target sequence on each strand
  3. Extension: ~72°C; Taq DNA polymerase (heat-stable; isolated from Thermus aquaticus) extends from the primers, copying the template (5'→3')

Each cycle doubles the number of target copies; after 30 cycles, approximately 109 copies are produced.


Gel electrophoresis
DNA fragments separated by size under an electric field through agarose gel (DNA is negatively charged; migrates toward positive electrode). Smaller fragments travel further. Stained with a fluorescent dye; visualised under UV light. Compare to a DNA ladder (known sizes).
Genetic fingerprinting
Uses VNTRs (variable number tandem repeats): regions of repeated DNA sequences that vary greatly between individuals. Probability of two individuals sharing identical VNTRs is very low. VNTRs amplified by PCR → gel electrophoresis → unique band pattern. Used in forensic science, paternity/relationship testing, animal and plant breeding, and determining genetic variability within a population.
DNA probe
A short, single-stranded DNA sequence with a known complementary sequence to the target. Labelled with a fluorescent or radioactive marker. Used to detect whether a specific allele or sequence is present (hybridisation). Applications: diagnosing genetic conditions, microarray analysis.
DNA sequencing
Determines the precise base sequence of a DNA fragment. Used in genomics, diagnosis of mutations, and evolutionary studies (comparing sequences between species).

Gene therapy:

Somatic gene therapy
Target gene corrected or added in body (somatic) cells only. Change is not inherited by offspring; treats only the individual. Currently legal. Example: treating cystic fibrosis lung cells using viral vectors or liposomes.
Germ-line gene therapy
Target gene altered in reproductive cells or early embryo. Change is heritable; all cells of the resulting organism carry the modification. Illegal in the UK (and most countries) for humans due to ethical concerns.

Delivery methods:

  • Retroviral vectors: integrate into host genome; persistent effect; risk of insertional mutagenesis
  • Adenoviral vectors: do not integrate; shorter-term expression; lower integration risk
  • Liposomes: non-viral; encase DNA in lipid vesicle that fuses with cell membrane; lower immune response than viral vectors

Ethical issues in gene technology: somatic gene therapy is generally accepted; germ-line raises concerns about consent (unborn individuals cannot consent), unknown long-term effects, and "designer baby" implications. GM crops raise issues about biodiversity, corporate control of food supply, and ecological effects of gene flow to wild relatives.


Genome projects and sequencing:

  • Sequencing projects have determined the complete genome of many organisms including humans. Sequencing methods are continuously updated and have become automated (e.g. next-generation sequencing).
  • In simpler organisms: because most DNA codes for protein, the genome sequence can be translated into the full proteome (all proteins an organism can produce). Applications include identifying potential antigens for vaccine production.
  • In complex (eukaryotic) organisms: the presence of large amounts of non-coding DNA (introns, regulatory sequences, repetitive sequences) and regulatory genes means knowledge of the genome cannot easily be translated into the proteome. Alternative splicing adds further complexity.

DNA probes and personalised medicine:

  • Labelled DNA probes (fluorescent or radioactive) are used in DNA hybridisation to locate specific alleles of genes in a patient's DNA
  • Probes can screen patients for: heritable conditions (e.g. BRCA1/2 alleles for breast cancer risk), drug responses (pharmacogenomics), and health risks
  • This information is used in genetic counselling (informing patients of risks and reproductive choices) and personalised medicine (tailoring drug choice and dose to a patient's genotype)