Biology AQA Year Two A Level

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Last updated: May 20, 2026
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Answer
light dependent reaction: (1) a pair of electrons in ____ absorb light energy
chlorophyll
(2) they leave the molecule (____)
photoionisation
(3) they are passed along the ____ which is a series of protein carriers in the thylakoid membrane
electron transfer chain
(4) the electrons lose energy at each stage, some of which is conserved in production of ____
ATP
(5) ____ of water replenishes the chlorophyll electrons - also produces protons and oxygen
photolysis
(6) protons pass out of the thylakoid space and they, along with the electron pair, reduce ____
NADP
the oxygen is a ____ and diffuses out of the leaf or can be used in respiration
byproduct
ATP is produced by ____ theory
chemiosmotic
(1) protons are pumped from the ____ to the thylakoid space
stroma
(2) this creates a concentration gradient of protons which can only pass out of the thylakoid space through ____ channel proteins
ATP synthase
(3) as the protons pass through, they change the protein's shape and allow it to catalyst formation of ____
ATP
light independent reaction: (1) carbon dioxide reacts with ____
ribulose bisphosphate
to produce 2 molecules of ____
glycerate-3-phosphate
which is catalysed by ____
rubisco
(2) ATP and ____ are used to reduce GP
NADP
to ____
triose phosphate
(3) some of this is used to regenerate RuBP in the ____ and some is converted to useful organic products
Calvin cycle
factors that affect ____ include: temperature, light intensity, carbon dioxide concentration
photosynthesis
respiration stage one: ____
glycolysis
occurs in the ____ and is anaerobic
cytoplasm
(1) glucose is phosphorylated to ____ using ATP
glucose phosphate
(2) which is converted to ____
triose phosphate
(3) which is oxidised to ____
pyruvate
there is a net gain of ATP and ____
reduced NAD
if respiration is only ____, pyruvate can be converted to ethanol or lactate using reduced NAD
anaerobic
the oxidised NAD produced in this way can be used in further ____
glycolysis
if respiration is aerobic, pyruvate enters the ____ by active transport
mitochondrial matrix
stage two: ____
link reaction
(1) pyruvate is oxidised to ____, producing reduced NAD
acetate
(2) acetate combines with ____ to produce acetyl coenzyme A
coenzyme A
stage three: ____
Kreb's cycle
(1) acetyl coA reacts with a ____C molecule, releasing coA and producing a 6C molecule
4
(2) in a series of redox reactions, the Krebs cycle generates reduced coenzymes NAD and ____
FAD
and ATP by ____
substrate level phosphorylation
synthesis of ATP by ____ is associated with transfer of electrons down the ETC and chemiosmotic theory across the inner mitochondrial membranes
oxidative phosphorylation
plants synthesis organic compounds from ____
carbon dioxide
most of the sugars synthesised are used as ____ substrates and the rest to form other biological molecules
respiratory
biological molecules form the ____ which is mass of carbon or dry tissue per given area
biomass
the chemical energy store in dry biomass can be estimated using ____
calorimetry
chemical energy store in plant biomass in a given area or volume
gross primary production
chemical energy store in plant biomass after respiratory losses to the environment have been taken into account
net primary production
NPP is available for plant growth and reproduction and to other ____ levels in the ecosystem
trophic
net production of ____ = chemical energy store in ingested food – (chemical energy lost to the environment in faeces and urine + respiratory losses to the environment)
consumers
the synthesis of organic molecules from inorganic sources, primarily by plants and algae through photosynthesis (biomass per area per time)
primary productivity
the creation of new biomass by consumers (biomass per area per time)
secondary productivity
increasing productivity while farming ____: restrict movement, warm environment to reduce heat loss, control feeding to minimise wastage and maximise growth, exclude predators
animals
increasing productivity while farming ____: simplify food webs, pest control to minimise effects of pests (especially important in monocultures)
plants/crops
nitrogen cycle: plants take up ____ ions from their roots and animals by ingesting plants
nitrate
nitrate ions are soluble and ____ through the soil
leach
naturally, nitrate concentrations are largely restored by recycling nitrogen containing compounds but can use ____ agriculturally
fertilisers
where ammonia is produced from organic nitrogen-containing compounds
ammonification
this occurs when ____ feed on dead organisms and break down their polypeptides e.g.
saprobionts
oxidation of ammonium to nitrite to nitrate by nitrifying bacteria
nitrification
____ process so to raise productivity, farmers keep soil aerated by ploughing and employ good drainage to prevent air spaces filling with water
aerobic
converting atmospheric nitrogen ____ to nitrogen containing compounds
gas
can be done by free living or ____ bacteria (which live in root nodules on legumulous plants)
mutualistic
anaerobic denitrifying bacteria convert soil nitrates into gaseous nitrogen
denitrification
symbiotic relationships between fungi and plant roots
mycorrhizae
fungae form long thin ____ that connect with plant roots and increase surface area of the root system, benefitting the plant by increasing absorption of water and inorganic ions
hyphae
in return the fungi receive ____ compounds
organic/carbon
natural ( ____ ) fertilisers consists of the dead and decaying remains of plants and animals and their wastes
organic
artificial ( ____ ) fertilisers are mined from rocks and deposits then converted into different forms and blended to give the right balance for a particular crop
inorganic
using nitrogen containing fertilisers can impact the environment: (1) reduced species ____ because nitrogen-rich soils favour fast-growing species
diversity
(2) ____ can cause nitrate ions to enter water sources. high nitrate concentration can prevent efficient oxygen transport in babies
leaching
(3) ____ where nitrate ions cease to be a limiting factor for plant and algal growth
eutrophication
causes ____ which absorbs light and prevents it penetrating to lower levels
algal bloom
the plants and algae below can no longer ____ and die
photosynthesis
concentration of oxygen in the water is reduced and ____ organisms die
aerobic
____ organisms have less competition and populations rise
anaerobic
these decompose dead material, releasing more nitrates and some toxic wastes like ____ which putrifies the water
hydrogen sulfide
in flowering plants, specific growth factors move from growing regions to other tissues where they regulate growth in response to ____ stimuli
directional
IAA ( ____ ) controls plant cell elongation and is an auxin
indoleacetic acid
____ is where plants grow in response to light
phototropism
(1) cells in the ____ tip produce IAA which is initially transported evenly throughout all regions as it moves down the ____
shoot
(2) ____ causes movement of IAA from the light side to the shaded side
light
(3) a greater ____ of IAA builds up on the shaded side
concentration
(4) IAA causes ____ of shoot cells so the cells on the shaded side elongate more
elongation
this causes the shoot tip to bend ____ the light
towards
____ is where plants grow in response to gravity
gravitropism
(1) cells in the ____ tip produce IAA which is initially transported evenly along the ____
root
(2) a greater concentration of IAA builds up on the ____ side of the root
lower
(3) IAA ____ elongation of root cells so the cells on the lower side elongate less
inhibits
(4) the root bends downwards towards the force of ____
gravity
a simple response whose direction is determined by the direction of the stimulus
taxis
moving towards a favourable stimulus
positive taxis
moving away from an unfavourable stimulus
negative taxis
an organism changes the speed at which it moves and the rate at which it changes direction
kinesis
rate of turning ____ as an organism moves into an unfavourable environment, raising chances of returning quickly to a favourable one
increases
as they get further into the unfavourable environment, rate of turning may ____ so that it moves in long straight lines before turning sharply
decrease
kinesis is important where a stimulus is not as ____
directional
____ arc: stimulus, receptor, sensory neurone, intermediate neurone, motor neurone, effector, response
reflex
stimulation of a receptor by specific stimuli leads to establishment of a ____
generator potential
the ____ responds to pressure and occurs deep in the skin
Pacinian corpuscle
the single ____ of a Pacinian corpuscle is at the centre of layers of connective tissue separated by gel
sensory neurone
a ____ surrounds the layers and there is a blood capillary in the ____
capsule
when pressure is applied, the PC is deformed, the membrane around the neurone is widened, and the ____ open
stretch mediated sodium ion channels
this ____ the membrane and produces a generator potential
depolarises
this in turn creates an ____
action potential
the light receptor cells in a mammalian eye are found in the ____
retina
rod cells: (1) cannot distinguish different ____ of light
wavelengths
(2) more numerous than ____
cone cells
(3) many rod cells are connected to a single sensory neurone in the ____
optic nerve
(4) used to detect low ____ light
intensity
(5) many rod cells are connected to a single ____ cell
bipolar
this is ____ and gives a greater change the threshold value will be exceeded than if only one rod cell were connected
retinal convergence
this uses ____
spatial summation
(6) a certain ____ has to be exceeded before a generator can be created
threshold value
(7) in order to create a generator potential, the ____ pigment in the rod cells must be broken down
rhodopsin
low ____ light is enough to break this down
intensity
the light received by rod cells sharing the same ____ will only generate one impulse
neurone
this means rod cells give low ____ as the brain cannot distinguish separate sources of light that stimulated them
visual acuity
mostly found at the peripheries of the ____ where light intensity is low
retina
____ cells are of three types, each responding to a different range of wavelengths of light
cone
(1) they often have their own bipolar cell so ____ cannot be used to exceed the threshold but have good visual acuity
summation
so they only respond to high light ____
intensity
(2) they contain ____ pigment which requires high intensity light to break down
iodopsin
(3) they are found mostly at the ____ (where light is focussed by the lens)
fovea
the heart muscle is ____ - contraction is initiated from within the muscle
myogenic
process: (1) a wave of electrical excitation spreads out from the ____ in the right atrium wall
sinoatrial node
this spreads across both atria and causes them to ____
contract
the ____ is non-conductive and prevents the wave crossing to the ventricles
atrioventricular septum
(2) the wave enters the ____ which lies between the atria and there is a short delay to allow the atria to empty
atrioventricular node
(3) the AVN conveys the wave along the ____ tissue (which collectively makes up (4))
Purkyne
(4) the ____ conducts the wave through the atrioventricular septum to the base of the ventricles
bundle of His
(5) the wave of excitation is released from the Purkyne tissue, causing the ____ to contract
ventricles
changes to heart rate are controlled by the ____ which has a centre for increasing heart rate and one for decreasing it
medulla oblongata
____ are sensitive to blood pH changes and are found in the wall of the carotid arteries
chemoreceptors
pressure receptors occur within the walls of the carotid arteries and the ____
aorta
low pH or low pressure cause an increase in ____ of impulses from these receptors to the medulla
frequency
along the ____ pathway
sympathetic
so the medulla increases frequency of impulses to the ____ and thus increases heart rate
sinoatrial node
high pH or high pressure transmit impulses along the ____ nervous system pathway to reduce heart rate
parasympathetic
uses nerve cells to pass electrical impulses along their length, and stimulate target cells by releasing neurotransmitters. rapid, short-lived, localised response
nervous system
glands produce hormones that are transported in the blood and stimulate receptors on target cell membranes. slower, longer-lasting, more widespread
hormonal system
a ____ motor neurone has the following structure:
myelinated
(1) cell body containing cell organelles including large amounts of ____ to produce neurotransmitters
rough endoplasmic reticulum
(2) ____ : extensions of the cell body that subdivide into dendrites and carry impulses towards the cell body
dendrons
(3) a single long fibre that carries nerve impulses away from the cell body
axon
(4) ____ cells which surround the axon, protect, insulate, carry out phagocytosis on debris, help nerve regeneration
Schwann
their membranes wrap around the axon and layers build up and form the ____
myelin sheath
(5) ____, where there are constrictions between adjacent Schwann cells with no myelin sheath
nodes of Ranvier
____ is maintained in the axon by actively transporting out sodium ions at a greater rate than actively transporting in portassium ions
resting potential
resting potential is ____ mV in humans
-65
here the axon is said to be ____
polarised
(1) the energy of a stimulus arriving causes some voltage-gated ____ ion channels to open
sodium
(2) sodium ions diffuse into the axon along their ____ gradient
electrochemical
(3) ____ feedback causes more sodium ion channels to open
positive
(4) they trigger ____ of the axon
depolarisation
(5) the threshold potential of about ____ mV is established
+40
(6) the voltage gated sodium ion channels close and the voltage gated ____ ion channels open
potassium
(7) potassium ions diffuse out, starting ____ of the axon
repolarisation
(8) this causes temporary ____
hyperpolarisation
(9) the potassium ion channels close and once again ____ potential is established
resting
along an ____ axon, this is how the action potential moves along the axon:
unmyelinated
(1) the membrane is ____ at one point
depolarised
(2) the localised ____ currents cause opening of sodium ion channels further along, causing depolarisation
electrical
(3) behind this new region of depolarisation, ____ occurs
repolarisation
(4) the action potential is ____ along the axon
propagated
along a ____ axon, the myelin sheath acts as an electrical insulator
myelinated
the localised circuits jump between adjacent nodes of Ranvier - ____ conduction
saltatory
a larger ____ of an axon leads to faster conduction due to less leakage of ions
diameter
higher temperatures can increase rate of diffuse of ions up to the point that relevant ____ denature
enzymes
all ____ potentials are the same size
action
the individual can tell the size of a stimulus through ____ of impulses in a given time and by having neurones with different threshold values
frequency
the period where inward movement of sodium ions is prevented because the sodium voltage gated channels are closed
refractory period
three purposes of this: (1) ensures action potentials are only ____ in one direction
propagated
(2) produces ____ impulses
discrete
(3) limits the number of action potentials in a given time so the strength of ____ that can be detected
stimulus
synapses are ____ (impulses only travel one way)
unidirectional
summation where many neurones give an impulse
spatial
summation where one neurone gives many impulses in a short time
temporal
synapses that make it less likely a new action potential will be created on the postsynaptic neurone
inhibitory
(1) the presynaptic neurone releases neurotransmitter that binds to ____ channels on the postsynaptic neurone
chloride ion
(2) chloride ions move into the postsynaptic neurone by ____
facilitated diffusion
(3) the binding of the neurotransmitter causes ____ ion channels to open and ____ ions to diffuse into the synapse
potassium
(4) this makes the membrane potential more negative ( ____ )
hyperpolarisation
(5) this makes it less likely a new action potential will be created because a larger influx of ____ ions will be required
sodium
____ are stimulated to contract by nerves and act as effectors. they act in antagonistic pairs against an incompressible skeleton
skeletal muscles
made up of muscle fibres called ____
myofibrils
these share nuclei and cytoplasm (called ____ ) which is found at the circumference of the fibre and contains a large concentration of mitochondria and endoplasmic reticulum
sarcoplasm
myofibrils are made up of (1) ____ which is thinner and consists of two strands twisted around one another
actin
(2) ____ which is thicker and consists of long, rod-shaped tails with bulbous heads that project to the side
myosin
light bands in myofibrils: ____ bands, thick and thin filaments do not overlap, thin filaments only
I
dark bands: ____ bands, thick and thin filaments do overlap
A
lighter region at the centre of each A band, thick filaments only: ____ zone
H
at the centre of each I band is the ____ line
Z
the distance between adjacent Z lines is called a ____
sarcomere
the point where a motor neurone meets a skeletal muscle fibre
neuromuscular junction
all muscle fibres supplied by a single motor neurone
motor unit
when a nerve impulse is received, ____ ions diffuse in and cause the synaptic vesicles to fuse with the presynaptic neurone
calcium
this releases ____ from the vesicles into the synaptic cleft which diffuses to the postsynaptic membrane of the muscle fibre
acetylcholine
this opens ____ ion channels and depolarises the membrane
sodium
acetylcholine is broken down by ____ and the products diffuse back into the presynaptic neurone
acetylcholinesterase
evidence for the ____ mechanism of muscle contraction: I band, H zone, and sarcomere narrows but the A band remains the same width
sliding filament
thus it follow the ____ filaments have not become shorter
myosin
____ comprises of a fibrous protein tail and a globular protein head
myosin
____ is a globular protein whose molecules are twisted to form a helical strand
actin
____ forms long thin strands that wind around actin filaments
tropomyosin
(1) once the action potential has crossed the neuromuscular junction, it travels into the fibre trough a system of T-tubules that branch throughout the ____
sarcoplasm
(2) the ____ has actively transported calcium ions from the sarcoplasm so there is a very low concentration
sarcoplasmic reticulum
(3) calcium ions are released and bind to ____, changing its shape and displacing tropomyosin from blocking the actin filament
troponin
(4) the myosin heads attach to the actin filament by the ____ molecules attached to their heads
ADP
(5) the myosin ____ changes position and the actin filaments slide past, the ADP is released
head
(6) an ____ molecule fixes to the myosin head and causes it to detach from the acin
ATP
(7) calcium ions activate the ____ and hydrolysis of the ATP allows the myosin head to be cocked again
ATP hydrolase
when the muscles are relaxed, calcium ions are actively transported back into the sarcoplasmic reticulum and ____ blocks the filament again
tropomyosin
____ is a reserve supply of phosphate available immediately to form ATP
phosphocreatine
the store is replenished using phosphate from ____ when the muscle is relaxed
ATP
necessary to have the store as a method of rapidly generating ATP ____ when ATP demand exceeds oxygen availability
anerobically
____ muscle fibres contract more slowly, adapted to endurance work, adapted for aerobic respiration
slow twitch
(1) large store of ____ (oxygen storage molecule) which gives them a red colour
myoglobin
(2) good blood supply to deliver oxygen and glucose and numerous ____ to produce ATP
mitochondria
____ muscle fibres contract more rapidly and powerfully, adapted to intense exercise
fast twitch
(1) thicker and more numerous ____ filaments
myosin
(2) high concentration of enzymes involved in ____ respiration
anaerobic
(3) large stores of glycogen and ____
phosphocreatine
the maintenance of a stable internal environment
homeostasis
Hint
Answer
necessary to maintain pH and temperature to allow for normal ____ function
enzyme
necessary to maintain blood water potential (so also ____ concentration) to prevent bursting or shrinking of cells
glucose
____ feedback mechanisms in both directions give a greater degree of control
negative
____ is produced in times of excitement or stress
adrenaline
(1) binds to a transmembrane protein receptor within the cell surface membrane of a ____ cell
liver
(2) changes the shape of a protein on the inside of the membrane and activates ____
adenyl cyclase
(3) this converts ATP to ____
cyclic AMP
(4) this acts as a secondary messenger that activates a ____ by changing its shape
protein kinase
(5) this catalyses conversion of glycogen to ____
glucose
conversion of glucose into glycogen
glycogenesis
breakdown of glycogen to glucose
glycogenolysis
production of glucose from sources other than carbohydrate
gluconeogenesis
when insulin is released, it causes (1) activation of enzymes involved in glycogenesis
insulin
(2) ____ containing glucose transport carrier proteins fuse with the cell surface membrane to increase glucose absorption
vesicles
(3) a change in the ____ structure of glucose carrier proteins causing them to open
tertiary
lowers blood glucose concentration by (1) increasing rate of absorption of ____ into the cells
glucose
(2) increasing rates of cellular respiration, glycogenesis, and conversion of glucose into ____
fat
when ____ is released it binds to receptors on liver cells and activates enzymes involved in glycogenolysis and gluconeogenesis
glucagon
diabetes where the body cannot produce insulin due to an autoimmune attack on the beta-cells of the islets of Langerhans
Type I
controlled by injections of ____ and usually begins in childhood
insulin
diabetes where glycoprotein receptors lose responsiveness to insulin or there is an inadequate supply of insulin from the pancreas
Type II
usually controlled by regulating ____ intake but may be supplemented by insulin injections or drugs that slow rate of glucose absorption
carbohydate
incidence of type II diabetes is ____ so responses of public bodies are important in determining health outcomes
increasing
e.g. promote healthy eating and physical activity, ask government to improve laws around ____ labelling
nutrition
food industry sometimes reformulate products to reduce sugar/salt/fat content but also need to make ____ so promote unhealthy foods still
profit
control of water potential of the blood
osmoregulation
functional unit of the kidney
nephron
the closed end at the start of the nephron, cup-shaped
Bowman's capsule
mass of blood capillaries surrounded by the Bowman's capsule
glomerulus
a series of loops surrounded by blood capillaries. its walls are made of epithelial cells which have microvilli, connects Bowman's capsule to the loop of Henle
proximal convoluted tubule
a long, hairpin loop that extends from the cortex into the medulla of the kidney and back again. surrounded by blood capillaries
loop of Henle
a second series of loops surrounded by blood capillaries
distal convoluted tubule
a tube into which a number of distal convoluted tubules from a number of nephrons empty
collecting duct
(1) blood enters the kidney through the ____ artery
renal
this branches to give the ____ which each enter a Bowman's capsule
afferent arterioles
____ of the afferent arteriole is greater than ____ of the efferent arteriole, causing a buildup of hydrostatic pressure in the glomerulus
diameter
water, glucose and mineral ions are squeezed out of the capillary and form the ____
glomerular filtrate
the glomerular ____ prevents large proteins entering the filtrate
basement membrane
the ____ that make up the renal capsule have gaps between them for filtrate to pass through
podocytes
the ____ of the glomerular capillaries also has gaps
endothelium
the ____ are adapted by: microvilli for a large surface area, many mitochondria to provide ATP for active transport
podocytes
water and ____ are reabsorbed by the proximal convoluted tubule (____ by cotransport with sodium ions)
glucose
the loop of Henle acts as a ____ multiplier to absorb water
counter current
(1) sodium ions are actively transported out of the water-impermeable ____ limb
ascending limb
(2) this creates a low water potential in the ____ region between the limbs
interstitial
(3) water passes out of the permeable ____ limb by osmosis into the interstitial space and into blood capillaries
descending
(4) sodium ions diffuse and are actively transported out all the way up the ascending limb to maintain a ____ gradient
water potential
the ____ makes final adjustments to the water and ions that are reabsorbed
distal convoluted tubule
____ hormone alters permeability of the distal convoluted tubule to water
antidiuretic
it is released by the ____ gland and more ADH leads to more water being reabsorbed
pituitary
the genetic constitution of an organism
genotype
the expression of this genetic constitution and its interaction with the environment
phenotype
genes located on sex chromosomes
sex linked
multiple genes located on the same autosome
autosomally linked
where one gene influences the expression of another gene. can be dominant or recessive
epistasis
two different alleles are both fully and equally expressed in an individual's phenotype
codominant
monohybrid and ____ crosses can be constructed to interpret the results of a genetic cross
dihybrid
practice questions on genetic crosses are the most efficient method of revision (type ok)
ok
a group of organisms of the same species occupying a particular space at a particular time that can potentially interbreed
population
all the alleles of all the genes of all the individuals in a population at a given time
gene pool
the number of times an allele occurs within the gene pool
allele frequency
____ equations can be used to calculate allelic frequencies in a population. assumptions:
Hardy-Weinberg
(1) no ____
mutations
(2) the population is ____ (no flow of alleles in or out)
isolated
(3) there is no ____ so all alleles equally likely to be passed on
selection
(4) population is ____
large
(5) mating is ____
random
p^2 + 2pq + q^2 = ____ and p + q = ____
1
natural selection causes changes in ____ frequency if the new mutation provides a benefit to the phenotype
allele
eliminates extremes of the phenotypic range within a population and with it the capacity for evolutionary change
stabilising selection
a change in conditions changes the optimum value for survival in the normal distribution of a phenotype
directional selection
extreme phenotypes are favoured at the expense of intermediates
disruptive selection
____ separation of two populations can result in accumulation of differences in their gene pools that prevent successful breeding
reproductive
____ speciation: two populations are geographically isolated
allopatric
____ speciation: two populations are in the same area but are reproductively separated (e.g. fertile at different times of year)
sympatric
change in allele frequencies within a population from one generation to the next, driven by chance
genetic drift
the populations of different species in an area
community
a community and the non-living components of its environment
ecosystem
the specific functional role and space an organism occupies within an ecosystem
ecological niche
an ecosystem supports a certain size of population of a species (the ____)
carrying capacity
population size varies due to inter and intraspecific ____ and the effects of abiotic factors
competition
mark-release recapture assumptions: (1) proportion of ____ to un____ individuals does not change between samples
marked
(2) the marked individuals have sufficient time to distribute evenly within the ____
population
(3) no immigration, emigration, births or ____
deaths
(4) the method of ____ing does not harm the individual, and is not lost or rubbed off
mark
succession: (1) the ____ species colonises an environment (e.g. lichens)
pioneer
(2) ____ of the base rock by the pioneer species produces sand or soil
weathering
(3) these species die, decompose, and release sufficient nutrients to support a ____ of small plants
community
(4) continued erosion of the rock builds up soil, which is contributed to by the ____ matter from dead plants
organic
this holds ____ which makes it easier for other plants to grow
water
each generation of species make it less ____ for the organisms that follow
hostile
(5) the new plants also provide more ____ sources and ____ webs develop
food
(6) a ____ community forms, with trees, animals, other plants. there is high biodiversity and it is stable over time
climax
____ of habitats frequently involves management of succession
conservation
you need to manage conflict between human needs and conservation to maintain ____ of natural resources
sustainability
cells can control their metabolic activities by regulating ____ and translation of their genome
transcription
mutation that adds a base
addition
mutation that removes a base
deletion
mutation that changes one base for another
substitution
mutation that flips a section around 180 degrees
inversion
mutation that duplicates a section
duplication
mutation where a segment of chromosome breaks off and attaches to a non-homologous chromosome or another part of the same chromosome
translocation
mutations are ____ but frequency is increased by mutagenic agents
spontaneous
a ____ shift changes all codons downstream from the mutation
frame
____ cells can divide and produce any type of body cell, found in early mammalian embryos
totipotent
____ cells can form all body cell types but placenta, found in embryos
pluripotent
multi____ and uni____ cells are found in mature mammals and can divide to form a limited number of cell types
potent
unipotent cells are derived from ____ cells and can only differentiate into one type of cell
multipotent
e.g. ____ which are heart muscle cells that can divide to produce new heart tissue and repair damaged heart muscle
cardiomyocytes
____ can be produced from adult somatic cells using transcription factors
induced pluripotent cells
pluripotent ____ treatments pros: alleviate human suffering, use embryos from fertility treatments that would otherwise be destroyed, no harm to a person
stem cell
cons: undermines respect for human life, move towards reproductive ____
cloning
stem cells obtained from adult ____ have restricted medical benefits
bone marrow
____ is a steroid hormone that helps initiate transcription
oestrogen
for transcription to begin, a ____ must bind to a promoter region so the DNA can be transcribed
transcriptional factor
(1) oestrogen is ____ so diffuses through the phospholipid bilayer
lipid soluble
(2) in the cytoplasm, binds to a receptor molecule on the transcriptional factor with a ____ shape
complementary
(3) changes the shape of the ____ binding site on the transcriptional factor and allows it to bind to ____
DNA
(4) the complex now enters the nucleus through a nuclear pore and binds to the ____ region on the gene and stimulates transcription
promoter
heritable changes in gene function without changes to the DNA base sequence
epigenetics
the ____ determines the shape of the DNA-histone complex
epigenome
the epigenome responds to environmental changes to vary which ____ are silenced and which are not
genes
in early development, ____ by the mother shapes the epigenome. after birth, environmental factors affect it instead
nutrition
when the association of DNA with ____ is weak DNA is more accessible by transcriptional factors
histones
____ of histones decreases the positive charge of histones and decreases attraction to DNA
acetylation
____ of the cytosine bases prevents binding of transcriptional factors
methylation
epigenetic treatments can be used to treat cancers, e.g. decreasing ____ of tumour suppressor genes
methylation
____ is breaking down mRNA before translation
RNA interference
siRNA
small interfering RNA
(1) enzyme cuts double stranded ____ into smaller sections of siRNA
RNA
(2) one of the two siRNA strands combines with an ____
enzyme
(3) the siRNA pairs its bases to the complementary ones on the ____
mRNA
(4) the enzyme cuts the mRNA into smaller pieces and prevens ____
translation
malignant vs benign tumours: both can grow very ____
large
benign have a normal cell ____ whereas malignant have a larger and darker ____ due to an abundance of DNA
nucleus
benign tumours often have ____ cells but in malignant ones cells become un____
specialised
malignant tumours ____ and form secondary tumours but benign ones do not because they produce adhesion molecules
metastasise
benign tumours are compacted by a capsule of dense ____ but malignant ones are not
tissue
____ tumours are less likely to be life-threatening unless they disrupt function of a vital organ
benign
benign tumours tend to have localised effects whereas malignant ones have ____ effects
systemic
benign tumours can usually be removed by surgery, malignant tumours usually require radio____ and/or chemo____ as well
therapy
____ tumours reoccur after treatment more frequently
malignant
cancer cells are derived from a single mutant cell whose mutation causes uncontrolled ____
mitosis
a further ____ in descendent cells can cause subsequent cells to have abnormal growth or appearance
mutation
mutations of proto-oncogenes, which stimulate a cell to divide when growth factors attach to a protein receptor on its cell-membrane surface
oncogenes
these mutations cause the ____ to be permanently switched on for one of two reasons:
proto oncogene
(1) the receptor protein on the cell surface membrane is permanently activated even in the absence of ____
growth factors
(2) the oncogene may code for a growth factor that is then produced in excessive amounts, stimulating excessive ____
mitosis
____ slow down cell division, repair mistakes in DNA, tell a cell when to die
tumour suppressor genes
cell death
apoptosis
____ of a tumour suppressor gene can occur to it being switched off
hypermethylation
probability of developing breast cancer increases after the ____ because the fat cells of the breast start producing oestrogen
menopause
this is because oestrogen promotes transcription and can cause proto-oncogenes in breast tissue to develop into ____
oncogenes
genetic and ____ factors can increase cancer risk
environmental
determining the genome of simpler organisms allows the ____ of the organism to be determined
proteome
this can be applied in ____ production by identification of specific antigens
vaccine
this is not possible in more complex organisms due to the presence of ____
introns
____ methods are continuously updated and have become automated
sequencing
____ DNA technology involves the transfer of fragments of DNA from one organism or species to another
recombinant
the genetic code is universal so transferred DNA is translated within cells of the recipient ____ organism
transgenic
process: (1) DNA fragment is ____
isolated
(2) DNA fragment is inserted into a ____
vector
(3) ____ of the DNA into host cells
transformation
(4) identification of the host cells that have taken up the gene by use of gene ____
markers
(5) ____ of the successful host cells
cloning
____ of DNA can be produced by one of three methods:
fragments
(1) conversion of mRNA to complementary DNA (cDNA) using ____
reverse transcriptase
(2) using ____ enzymes to cut out a fragment containing the desired gene from DNA
restriction endonuclease
(3) using a ____ to assemble the gene from oligonucleotides
gene machine
a series of small, overlapping single strands of nucleotides
oligonucleotides
____ gene cloning uses vectors to transfer fragments to a host cell
in vivo
restriction endonucleases cut the DNA and target gene at ____
recognition sites
this gives complementary ____ which means the DNA can incorporate the gene
sticky ends
when the sticky ends have paired up, ____ binds the phosphate-sugar frameworks of the two sections
DNA ligase
before insertion, a promoter region is added for ____ to bind at and a terminator region for ____ to detach at
RNA polymerase
the fragments are mixed with ____ cut with the same restriction endonuclease
plasmids
the plasmids are mixed with the cells in a medium containing ____ and temperature changes to increase membrane permeability
calcium ions
to identify which cells have take up a plasmid, use ____ as the cells with the resistant gene from the plasmid will survive
antibiotic resistance
then from these cells, identify if the gene has been taken up using another ____ gene, e.g. one that is fluorescent
marker
____ cloning uses the polymerase chain reaction
in vitro
PCR requires: the DNA fragment, ____, primers, nucleotides, and a thermocycler
DNA polymerase
short sequences of nucleotides that have a set of bases complementary to those at one end of each of the two DNA fragments
primers
a computer controlled machine that varies temperatures precisely over a period of time
thermocycler
PCR: (1) temperature increased to ____C to break hydrogen bonds between the strands
95
(2) ____ of the primers
annealing
the mixture is cooled to ____C causing the primers to join to their complementary bases at the end of the DNA fragment
55
these primers allow ____ to attach and prevent the two strands from rejoining
DNA polymerase
(3) temperature increased to ____C and the DNA polymerase synthesises the new DNA strand from the nucleotides
72
the cycle is repeated and number of strands is ____ every time
doubled
____ is more rapid and does not require living cells
in vitro
____ is precise, more accurate, low risk of contamination, useful for gene therapy, useful to produce transgenic bacteria that produce gene products
in vivo
____ DNA technology benefits: treats disease, crops engineered to prevent disease or have environmental advantages, bacteria cloned to break down oil slicks
recombinant
risks: can't predict ____ consequences of releasing GM organisms, antibiotic resistance marker could spread to harmful bacteria, eugenics concerns
ecological
short, single-stranded lengths of DNA that have some sort of label attached to make it easily identifiable
DNA probes
where a section of DNA or RNA is combined with a single-stranded section of DNA which has complementary bases
DNA hybridisation
you can identify an ____ of a gene with a probe in the following way:
allele
(1) determine the allele ____ sequence using sequencing or genetic libraries
base
(2) make copies of the probe using the ____
polymerase chain reaction/PCR
(3) heat the ____ stranded DNA to separate the strands
double
(4) mix the strands with the probe so the probe binds to the DNA - ____
hybridisation
(5) wash to remove unattached probes then identify if a probe has bound using a ____ or fluorescent marker
radioactive
this can be used to screen patients for heritable conditions, drug responses, and health risks - allows for ____ medicine
personalised
a form of social work relating to heritable diseases and likelihood/manageability of it in offspring
genetic counselling
VNTRs
variable number tandem repeats
VNTRs are non-____ base sequences with lengths unique to everyone. the more similar they are, the more closely related two individuals are
coding
making of a genetic ____: (1) extract the DNA from a sample and increase quantity using PCR
fingerprint
(2) cut the DNA into fragments using ____
restriction endonucleases
(3) separate the fragments by size by ____
gel electrophoresis
(4) immerse the gel in ____ to separate the strands
alkali
(5) mix with different radioactively marked probes complementary to ____
VNTRs
(6) develop by placing on ____ film
X-ray
uses of DNA fingerprinting include: (1) resolving questions of ____
paternity
all bands on an individual's ____ must correspond to one of the parents
genetic fingerprint
(2) ____ science: comparing a DNA sample from a crime scene to one taken from a suspect
forensic
(3) ____ diagnosis to investigate if someone has a genetic disease vulnerability
medical
(4) plant and animal breeding, for example to prevent undesirable ____
inbreeding
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