Beruflich Dokumente
Kultur Dokumente
Plants can sense and respond to stimuli. Many of these responses are directional growth
responses, called tropisms. Tropisms can be positive (growing towards the stimulus) or
negative (growing away from the stimulus) and occur in response to a variety of stimuli:
From these experiments (1-3) the Darwins concluded that light is detected only at the
shoot tip, and an influence was transmitted from the tip down the shoot to cause
bending further down. They had no idea what this influence was.
Frits Went (4-6) showed that the influence was a chemical. He knew that seedlings with their
tips cut off would not grow, while seedlings with an intact tip would. So he cut off the tips off
growing seedlings, placed them on small blocks of agar for two hours, and then placed the
agar blocks on top of cut seedlings in the dark. Agar jelly allows chemicals to diffuse through
but contains no living cells, and a control experiment using agar blocks that had not been in
contact with shoot tips did not promote growth. Went concluded that a chemical substance had
diffused from the shoot tip into the agar, and that this substance stimulated growth further
down the shoot. He called this substance auxin.
In the 1960s Winslow Briggs (7-9) used Wents method (experiment 6) to assay the
amount of auxin in plant material. He found that the greater the amount of auxin,
the greater the bending. In the experiments below the numbers refer to the angle of
bending and therefore to the amount of auxin.
These discoveries are summarised in the Cholodny-Went theory, which states that
auxin is synthesized in the coleoptile tip; asymmetric illumination is detected by the
coleoptile tip and this causes auxin to move into the darker side; auxin diffuses down
the coleoptile; and the higher auxin concentration on the darker side causes the
coleoptile to bend toward the light source. Although there is a lot of evidence
supporting this theory, it is by no means certain and some recent studies using
radioactive tracers have found no difference in IAA concentration on the dark and
light sides of a shoot. An alternative mechanism is that IAA is present on both sides
but is somehow inhibited on the light side, so there is little growth.
Explain how nervous control in a human can cause increased cardiac output during
exercise.
1. Coordination via medulla (of brain) / cardiac centre;
2. (Increased) impulses along sympathetic (/ cardiac accelerator) nerve;
3. To S.A. node / pacemaker;
4. Release of noradrenalin;
5. More impulses sent from / increased rate of discharge of S.A. node /pacemaker;
Not beats; not speeds up
6. Increased heart rate / increased stroke volume;
Explain the effect of the parasympathetic division of the autonomic nervous system
on cardiac output. (4)
Impulses to SA node;
Along (branch of) vagus nerve;
Acetylcholine;
Decreases activity of SA node/equivalent;
Decreases rate of contraction/decreases heart rate/heartbeat;
Describe the role of the nervous system in modifying the heart rate in response to an
increase in blood pressure.
Pressure receptors;
in aorta/carotid artery/sinus;
send impulses (award once only);
to medulla;
send impulses (award once only);
along parasympathetic / vagus pathway;
slows heart rate;
Receptors
Pacinian corpuscles are situated deep in the skin, so are only sensitive
to intense pressure, not light touch. Pressure distorts the neurone cell
membrane, and opens stretch mediated sodium channels. This allows
sodium ions to diffuse in, causing a local depolarisation, called the
generator (or receptor) potential. The stronger the pressure, the
greater the generator potential, until it reaches a threshold, when an
action potential is triggered.
When pressure is applied to a Pacinian corpuscle, an impulse is produced in its
sensory neurone. Explain how.
(Pressure) deforms and opens (sodium) channels
Entry of sodium ions;
Causes depolarisation (generator potential)
Ions diffuse downstream and when threshold of nearby voltage gated channels is
reached they open and sodium diffuses in causing depolarisation
Explain how the structure of the retina and its neuronal connections enable
a person to have
(i) a high degree of visual sensitivity in low light
levels;
Rod cells (responsible for sensitivity);
Several rods connected to each bipolar cell;
Additive effect of small amount of light striking several
rod cells;
creating a large enough depolarisation to generate an
Several rod cells to each neurone/bipolar cell;
additive effect of light striking several rod cells;
(ii) a high degree of visual acuity.
Cone cells (responsible for acuity);
Each cone cell connected to an individual neurone;
idea of light striking each individual cone cell to generate a separate action potential / impulse;
very small area of retina stimulated, so very accurate vision;
Each cone is connected to a specific neurone;
light striking cone cells generating separate action potentials;
G a n g l io n c e lls
B ip o la r c e lls
R o d c e ll
C o n e c e ll
Nerve Impulses
Describe how the resting potential is established in an axon by the movement of ions
across the membrane.
+
active transport / pump of Na out
of axon;
+
diffusion of K out of axon / little
+
diffusion of Na into the axon;
membrane more permeable to loss
of potassium ions;
limits entry of sodium ions;
negatively charged proteins inside;
sodium pump;
membrane relatively impermeable / less permeable to sodium ions /
gated channels are closed / fewer channels;
sodium ions pumped / actively transported out;
by sodium ion carrier / intrinsic proteins;
higher concentration of sodium ions outside the neurone;
inside negative compared to outside / 3 sodium ions out for two
potassium ions in;
Sodium and potassium ions can only cross the axon membrane through proteins.
Explain why.
cannot pass through phospholipid bilayer;
because water soluble / not lipid soluble / charged / hydrophilic / hydrated
Describe the structure of the channels that allow sodium ions through membranes.
Protein (molecules);
transcending phospholipid bilayer / intrinsic / transmembrane
Explain what is meant by depolarisation
Inflow of sodium ions;
So inside (more) positive (or outside more negative)/ change
in membrane potential.
A change in potential difference will affect the gate on the channel protein and
produce an action potential. Explain how the action potential is produced.
Gate opens;
Allowing entry of sodium ions;
Brings about depolarisation/inside of neurone becomes positive
with respect to outside
Describe what happens to the sodium ions immediately after the passage of an action
potential along the neurone.
Sodium ions move out;
By active transport/pump;
What is meant by the all or nothing nature of a nerve impulse?
All action potentials are the same size;
threshold value for action potential to occur
Muscles
Describe the role of calcium in the contraction of a muscle
Moves / detaches / changes position of / shape of / switch protein / blocking
molecule / tropomyosin / troponin;
(Not just switches on)
uncovering binding site (on actin) / allows cross bridges to form / eq;
activates myosin ATPase / enables myosin head to split ATP;
Describe the role of ATP in mucle contraction
ATP provides energy for release / attachment / movement of myosin (head) (from binding site) /
removal of calcium ions;
What is the role of phosphocreatine in muscle contraction?
Allows the regeneration of ATP with out respiration. Produces ATP; rrelease Pi to join with
ADP
At a neuromuscular junction there is a 0.6ms delay between maximum
depolaristion in the presynaptic neurone and maximum depolarisation in the post
synaptic neurone, explain why.
2+
Calcium ion/Ca
entry;
vesicles fuse with preSM ( and rupture);
exocytosis of/release (neuro)transmitter substance / named e.g.;
diffuse across gap;
attach to receptors on post SM; (not fuse with....)
increase permeability to sodium (ions) open Na channels/ref. e.p.s.p.;
Explain the advantage of having both fast and slow twitch fibres
Fast fibres make immediate/fast contraction possible before the circulation/blood
supply adjusts/ most energy anaerobically generated;
fast fibres used in explosive/sprints locomotion;
slow fibres allow sustained contraction/anaerobic energy generation;
slow fibres used in maintaining posture/endurance events;
(answers which combine features of both,
without specifying which muscle type provides which benefit: max 1)
When a muscle contracts what happens to the A band, I band and H zone
respectively.
A-band: no change AND I-band: shorter;
H-zone: shorter / disappears;
Describe the role of ATP calcium and CP in muscle contraction
Calcium ions bind to troponin;
Remove blocking action of tropomyosin / exposes actin binding sites;
ATP allows myosin to join / bind to actin / form cross-bridge;
Re-cocks myosin cross bridge / allows detachment from actin;
Enables calcium ions to be pumped back in;
Phosphocreatine allows regeneration of ATP without respiration;
Phosphocreatine releases Pi to join ADP;
Describe how having a large number of slow twitch fibres helps and endurance
athlete.
Endurance athletes exercise for long periods of time;
Respire / release energy aerobically;
Or too much lactate would accumulate;
Slow twitch fibres adapted to aerobic metabolism;
As have many mitochondria;
Site of Krebs cycle;
And electron transport chain;
Much ATP formed;
Also are resistant to fatigue;
B
An action potential is generated at the cell body of the motor neurone. Explain
how this action potential passes along the motor neurone to the
neuromuscular junction.
+
Depolarisation of axon membrane/influx of Na establishes local currents;
+
+
Change permeability to Na /open Na gates of adjoining region;
+
Adjoining region depolarises / influx of Na ;
This process repeated along axon / self propagation;
Correct reference to/description of saltatory conduction;
When the action potential arrives at the neuromuscular junction, it results in
the secretion of acetylcholine into the synaptic cleft. Explain how
Depolarisation of (presynaptic) membrane;
2+
2+
Ca
channels open / increased permeability to Ca
;
2+
Influx of Ca
;
Vesicles move towards presynaptic membrane;
Vesicles fuse with presynaptic membrane;
Describe the role of the mitochondria in the synaptic bulb
Active transport of ions/ ionic pump; (reject active transport of Ach)
Synthesis of acetylcholine / neurotransmitter/ reform vacuole;
Reabsorption of acetylcholine, or acetyl + choline (from cleft);
Movement of vesicles (to membrane);
Synthesis of relevant enzyme, e.g. acetylcholinesterase.
(Reject - general uses of energy, or use in muscle fibril)
Give three differences between the muscle fibre and three epithelial cell lining
the small intestine
multi-nucleate;
striations / sarcomeres / banding;
actin / myosin / contractile protein;
no microvilli / surface not folded;
more mitochondria;
contain myoglobin;
V e s ic le s c o n ta in in g
a c e ty lc h o lin e
A x o n o f m o to r n e u ro n e
A c e ty lc h o lin e
re c e p to rs
A c e ty lc h o lin e s te r a s e
N orm al
M e m b ra n e o f
m u s c le c e ll
M y a s th e n ic
Fig 2
Fig 3
Explain why the pattern of protein filaments differs in Figure 2 and Figure 3.
myofibril is contracting in Figure 3 / relaxing in Figure 2;
movement of actin fibres between myosin fibres;
In Fig 2, only actin / thin filaments present;
In Fig 3, actin / thin filaments and myosin / thick filaments present;
Actin /thin filaments have moved into myosin / thick filaments;
Explain the cause of the banding pattern in striated muscle
The banding pattern is a result of the overlap between thick and thin filaments
Describe 2 ways in which the muscle as a whole can produce contractions of
varying force.
By changing the frequency of stimulation so that the fibre receives impulses at a greater
rate.
Changing the number and sizes of the motor units (a motor unit is all the muscle fibres
supplied by a single motor neurone). Large number of units gives a more
intensecontraction
Name 2 things needed for cross bridge formation and where they come from
Calcium ions and ATP. Calcium from sarcoplasmic rteticulum and ATP produce from CP
hydrolyses the glycolytic or the oxidative process.
Explain why the glycolytic system for producing energy in muscle contraction
is limited
Lactic acid is produced is a waste product and it inhibits the enzymes involved in
glycogen breakdown and impedes muscle contraction
Endurance athletes, such as marathon runners, nearly always have a high
proportion of slow fibres in their muscles. Explain the benefit of this.(6)
Endurance athletes exercise for long periods of time;
Respire / release energy aerobically;
Or too much lactate would accumulate;
Slow twitch fibres adapted to aerobic metabolism;
As have many mitochondria;
Site of Krebs cycle;
And electron transport chain;
Much ATP formed;
Also are resistant to fatigue;
Homeostasis
BGL
Describe how insulin reduces the concentration of glucose in the blood. 3)
Insulin binds to specific receptors (on membranes);
insulin activates carrier proteins / opens channels / causes more channels to form;
insulin increases the permeability of liver/muscle cells/tissues to glucose;
insulin action results in glucose conversion to glycogen / glycogenesis
Describe the role of insulin in the control of blood glucose concentration. (4)
increase in blood sugar leads (more) insulin secreted;
binds to (specific) receptors on (liver/muscle) cells;
leads to more glucose
entering cells/carrier activity/
increased permeability to glucose;
glucose leaves the blood;
glucose entering cell converted to glycogen;
The hormones which control the concentration of glucose in the blood
affect some cells in the body but not others. Use your knowledge of the
structure of cell surface membranes to explain why. (3)
Only target cells have appropriate receptors;
These are the proteins in cell surface membrane;
Receptor sites/hormones with a particular shape;
Concept of fitting/binding between receptor and hormone;
Explain the changes which take place in the blood glucose concentration of the nondiabetic person the period after eating(4)
Glucose absorbed into blood from gut causing glucose levels to rise;
rise detected by pancreas;
insulin is secreted into blood by pancreas;
glucose converted to glycogen/fat in liver/muscle;
increased glucose uptake by (respiring/muscle) cells;
binds to specific membrane receptors;
mild diabetic secretes some insulin;
Describe how blood glucose concentration is controlled by hormones in an individual
who is not affected by diabetes.
Process involves insulin and glucagon;
For detail, up to a total of 6 marks
Insulin / glucagon secreted by pancreas / islets of Langerhans;
Hormone receptors in membrane (of target cells);
(insulin stimulates) conversion of glucose to glycogen / glycogenesis:
activates / involves enzymes;
stimulates uptake by cells;
conversion of glucose to lipid / protein;
glucagon stimulates conversion of glycogen to glucose;/ glycogenolysis;
glucagon stimulates conversion of lipid / protein to glucose /
gluconeogenesis;
(b) Suggest how diet and exercise can maintain low glucose concentrations in the
blood of type II diabetics. (3)
feed on polysaccharides / named example (not cellulose);
slower digestion therefore no surge in blood sugar level;
exercise - increased respiration / BMR;
G lu c a g o n
R e c e p to r
} C e ll s u rfa c e m e m b r a n e
A d e n y la te
c y c la s e
The
diagram
shows
the
changes
caused
in a cell
by the
hormone
glucagon
when it
C y c lic A M P
ATP
In a c tiv e
enzym e
A c tiv e
enzym e
G ly c o g e n
G lu c o s e
combines with a receptor in the cell surface membrane (cascade). Using the diagram,
explain how an injection of a small amount of glucagon into the body could cause a
rapid increase in the concentration of glucose in the blood plasma.
Ref to cascade / amplification effect;
1
>1 molecule of cyclic AMP formed per glucagon (molecule);
each cyclic AMP activates >1 enzyme(molecule) ;
each enzyme causes breakdown of >1 glycogen (molecule);
each glycogen gives >1 glucose / glycogen is a polymer;
glucose diffuses into blood /
glucose moves high to low concentration;
N o fo o d
fro m th is
p o in t o n
P la s m a
g lu c o s e
c o n c e n tra tio n
T im e
K ey
C h a n g e in th is p e rio d
d u e to g lu c a g o n
C h a n g e in th is p e rio d
d u e to in s u lin
membrane permeability;
Body Temp
Explain how athletes produce heat when they run. (2)
Respiration for muscular activity; (energy needed/used for respiration etc, disqualifies)
respiration inefficient / releases waste heat / all energy ends up as heat
Explain why runners are more likely to overheat in humid conditions. (3)
Humidity reduces diffusion gradient / less difference in water potential;
less evaporation of sweat;
less cooling due to use of heat energy for evaporation of sweat.
Describe how the body responds to a rise in core body temperature. (5)
Temperature receptors stimulated in; (in skin disqualifies)
hypothalamus;
heat loss centre stimulated;
nerve impulses to sweat glands;
increase rate of / start sweat production;
nerve impulses to skin arterioles;
vasodilation (ref to vessels moving disqualifies)
The small mammal has ears which are usually pink, but they appear pale when the
environmental temperature is low. Explain the pale appearance of the mammals
ears when the environmental temperature is low. (3)
constriction / narrowing / shunt effect;
of arterioles;
less blood flow to capillaries;
reduces heat loss via radiation / conduction / convection;
S k in s u rfa c e
C a p illa ry
n e tw o rk s
B lu b b e r
Explain how this arrangement of the blood vessels would help the seal to maintain
a constant body temperature. (4)
(b) EITHER
1. increased (blood) temperature results in increased blood flow through
capillaries in blubber / vasodilation in blubber;
2. increased skin temperature;
3. increased loss of heat from skin;
4. decreased temperature results in reduced blood flow through
blubber capillaries/ vasoconstriction in blubber;
5. correct reference to (sphincter/circular) muscles of arterioles;
6. correct reference to role of shunt vessels;
OR
1. decreased (blood) temperature results in decreased blood flow
through capillaries in blubber / vasoconstriction in blubber;
2. decreased skin temperature;
3. decreased loss of heat from skin;
4. increased temperature results in increased blood flow through
blubber capillaries/ vasodilation in blubber;
5. correct reference to (sphincter/circular) muscles of arterioles;
6. correct reference to role of shunt vessels;
Where are the receptors that detect the rise in temperature? (1)
Hypothalamus;
Explain how the body of a mammal may respond to a rise in the environmental
temperature.
Hot receptors in skin;
nervous impulse;
to hypothalamus;
blood temperature monitored;
heat loss centre involved;
vasodilation / dilation of arterioles;
more blood to surface / heat lost by radiation;
piloerector muscles relax;
hairs flatten on skin surface;
less insulation;
sweating initiated / increased;
panting / licking;
evaporation removes latent heat;
drop in metabolic rate / use less brown fat;
accept long term changes such as less fat deposition;
thinner fur;
migration;
accept one behavioural process;
b) Describe the important differences between the nervous and hormonal co
ordination systems found in a mammal.(4)
Rapid / slow;
direct / broadcast;
short lived/ long term;
mainly electrical ; chemical;
delivery via nerves / blood vessels;
cause depolarisation of target cell membrane /
receptors in membrane of target cell;
Explain why the core temperature of a large animal like a hippo would probably
rise if it stayed on land during the daytime. (3)
Metabolism/respiration produces heat;
Small surface area to volume ratio;
Environmental/air temperature high;
Heat gained/lost by radiation;
Fat limits heat loss;
[Note: small surface area to volume ratio=large volume to surface area ratio]
The blood vessels in the skin play an important part in allowing a mammal to
conserve heat. Describe how. (2)
(Vaso) constriction of arterioles / correct reference to shunt
vessels or sphincters; ignore contraction
Reject this first mark if any reference to moving blood vessels.
Less radiation / conduction / convection;
Less blood to surface / more blood flows beneath fat;
Explain two advantages of endothermy over ectothermy.
Any two from:
Enzymes at optimum temperature;
(Metabolic) reactions proceed more quickly;
More independent of environment/better able to survive in different
environment/equivalent;
The ears of a rabbit play an important part in helping the animal to keep its
body temperature constant. After a period of exercise, the insides of a rabbits
ears become redder in colour as the blood flow to the skin surface increases.
Explain how the different components of nervous communication are involved
in the
process leading to the response shown by the rabbits ears. (6)
Stimulus is increased blood temperature;
Increase in temperature results from exercise/respiration/metabolism;
Detected by receptors in hypothalamus;
Hypothalamus is coordinator;
In this case, the heat loss centre;
Effectors are muscles;
Of arteriole;
Response involves vasodilation;
Increased blood flow to capillaries;
Allowing heat loss by radiation/convection;
Correct reference to action potential/nerve impulse;
Oestrous cycle
The relationship between oestrogen and LH is an example of positive feedback.
Explain how.
Answer showing understanding of positive feedback i.e. more produces more / differs
further;
Answer showing understanding of positive feedback correctly linked to oestrogen and LH
i.e. more oestrogen produces more LH;;
Explain how changing concentrations of oestrogen and progesterone
regulate the oestrous cycle.
Any six from:
1 Progesterone inhibits (release of) FSH/LH;
2 Once progesterone falls (on day 16) FSH increases;
3 FSH increase causes follicles to develop;
4 Developing follicles produce oestrogen;
5 Oestrogen inhibits FSH (release);
6 High oestrogen/approx. day 18 stimulates FSH (release);
7 High oestrogen stimulates LH (release);
8 LH causes ovulation/causes progesterone (release)/formation of corpus luteum
The oestrous cycle in a female mammal is controlled by hormones. Describe
the part played by FSH and LH in the control of the oestrous cycle. (5)
FSH stimulates growth of a follicle;
Developing follicle produces oestrogen;
(FSH) and LH bring about ovulation / oestrus;
LH stimulates formation of corpus luteum;
LH stimulates production of progesterone;
Fall in LH / FSH means oestrogen production no longer stimulated;
During the oestrous cycle in a mammal, one or more follicles mature. Ovulation
then takes place. Describe the part played by hormones in controlling these
events. (6)
FSH secreted by pituitary gland;
Stimulates growth of follicle;
Ovary/follicle cells produce oestrogen;
Negative feedback/inhibits secretion of FSH;
Oestrogen stimulates secretion of LH/LH from pituitary;
LH stimulating ovulation;
Second increase in FSH also associated with ovulation;
Explain how oral contraceptives containing progesterone and oestrogen work.
(5)
Oestrogen inhibits FSH;
prevents follicle developing;
progesterone inhibits LH;
also inhibits FSH;
inhibits ovulation;
FSH and LH bring about ovulation
Genetic code
Describe the molecular structure of DNA and explain how a sequence of DNA is
replicated in the bacteria. (9)
nucleotides;
composition of a nucleotide,
4 bases named;
sugar-phosphate backbone;
two (polynucleotide) strands;
specific base-pairing;
example e.g. AT / CG;
hydrogen bonding;
uncoiling / unzipping;
semi-conservative replication;
DNA polymerase;
new complementary strands form / identical DNA molecule produced;
DNA inserted into plasmids;
which are self-replicating;
Describe how the structure of DNA allows it to carry out its function
Sugar phosphate backbone gives strength;
Coiling gives compact shape;
Sequence of bases allows information to be stored;
Long molecule / coiling stores large amount of information;
Complementary base pairing enables information to be replicated /transcribed;
Double helix protects weak hydrogen bonds / double helix makesmolecule stable;
Many hydrogen bonds together give molecule stability;
Prevents code being corrupted;
Hydrogen bonding allows chains to split for replication / transcription OR molecule unzips easily
for replication / transcription.
Explain why the genetic code is described as non-overlapping and
degenerate
Each base is part of only one codon
Some amino acids are coded for by more than one codon/ base sequence;
Compare tRNA vs mRNA
1) tRNA
Clover shaped
Standard length
Has an amino acid binding site
anticodon
tRNA has H bonds between complementary base
pairs
Limited number of types (64)
2) mRNA
Linear
Variable length (depends on the length of gene)
Many different types (depends on the gene)
No H-bonding
No base pairs
Mutations
A common question is to explain how mutations result in non-functioning or different
proteins. Look at the examples below and lo0k for common marking points within.
What is a gene mutation?
Change in base/nucleotide;
Describe one way in which the structure of the DNA of a gene may be changed as a
result of a mutation.
Addition / deletion / substitution;
Of nucleotide / base
Substitutions: mis-sense (codon changed so codes for new amino acid), non-sense
(codon changed to a stop codon), silent (change in 3rd base of a codon and still results
in the same amino acid due to degenerate genetic code)
Addition/deletion: frame shift is caused, alters the base sequence from the point of
mutation and can change many amino acids
Name mutagens/factors that increase frequency of mutations
High energy ionized particles/X-rays/ultraviolet light/high energy
radiation/uranium/plutonium/gamma rays/tobacco tar/
caffeine/pesticides/mustard gas/base analogues/free radicals;
(reject radiation)
High energy radiation / X rays / ultraviolet light / gamma rays;
high energy particles / alpha particles / beta particles;
named chemical mutagens e.g. benzene / caffeine / pesticide / mustard gas /
tobacco tar / free radicals;
(two named examples of any of the above = 2 marks)
length of time of exposure (to a mutagen);
dosage (of mutagen);
Explain how exposure to a mutagenic agent may result in an inactive enzyme
being produced by a cell.
Change in the sequence of nucleotides/bases/addition/deletion/
substitution;
changed order of amino acids/different protein/different tertiary;
structure;
inactive enzyme if shape of active site is changed/enzyme-substrate
complex does not form;
Explain how mutation of a gene can result in an organism lacking a particular
enzyme.
mutation results in incorrect sequence of bases/nucleotides in DNA/frame shift of
nucleotides;
incorrect codons/base triplets on mRNA;
so incorrect amino acids brought to ribosome/incorrect tRNA bring amino acids;
wrong sequence of amino acids changes tertiary structure or active site
(of enzyme)/no longer functions as enzyme/no or different enzyme formed/protein
non-functional;
Explain how the gene mutation results in failure to produce the enzyme
phenylalanine hydroxylase.
change in base sequence in mRNA / different mRNAChange
codons;in base sequence
different tRNA molecules pair with mRNA;
Changes the mRNA (codons)
with different amino acids / change in primary structure;
Binds different tRNA
(reject produces different amino acids)
Changes amino acid sequence (primary
change in tertiary structure of protein;
structure)
change in shape of active site;
Change tertiary structure
Change the active site/receptor site no longer
Explain why mutation of a mitochondrial gene might result in no functional
cytochrome oxidase being produced.
change in base/nucleotide (in DNA);
change in base sequence of mRNA/change in codons/idea of frame shift following deletion or
addition;
incorrect tRNA/anticodon;
incorrect amino acids/ different primary structure/formation of new
stop codon;
different tertiary structure/different 3D structure/different polypeptide/shortened polypeptide;
different shape of active site/no active site present;
Explain why a mutation involving the deletion of a base may have a
greater effect than one involving substitution of one base for another.
Deletion causes frame shift / alters base sequence (from point of mutation);
changes many amino acids / sequence of amino acids (from this point);
substitution alters one codon / triplet;
one amino acid altered / code degenerate / same amino acid coded for;
A gene mutation may cause no change in the structure of the protein
coded for. Explain why.
Degenerate code / clear description;
(New triplet) codes for same amino acid;
Mutations and cancer
Sometimes errors occur during the copying of a sequence of bases. Explain why
some errors have less severe consequences than others.
changes in base sequence will not necessarily affect amino acid coded for/most amino
acids have more than one code;
these codes differ only in the third base;
so changes in the third base are likely to cause no change in the amino acid sequence/
protein;
changes in first/second base result in an incorrect amino acid in the sequence/ formation of
the incorrect protein/example of mutation
causing this type of change;
change in amino acid present may have no effect on functioning of protein/some amino
acids more important in tertiary structure than others;
Describe how altered DNA may lead to cancer. (6)
1 (DNA altered by) mutation;
2 (mutation) changes base sequence;
3 of gene controlling cell growth / oncogene / that monitors cell division;
4 of tumour suppressor gene;
5 change protein structure / non-functional protein / protein not formed;
6 (tumour suppressor genes) produce proteins that inhibit cell division;
7 mitosis;
8 uncontrolled / rapid / abnormal (cell division);
9 malignant tumour;
Cells contain suppressor genes, which code for proteins that control cell
division and growth. Describe what is meant by a mutation, and explain how a
mutation in suppressor genes might lead to the development of a malignant
tumour. (6)
Mutation of suppressor gene up to 4 marks
1. Mutation is a change in the DNA / sense strand;
2. Base sequence altered / e.g.;
3. Suppressor gene produces wrong instructions / has different code;
4. (Therefore) different amino acid sequence;
5. Different protein structure / non-functional protein;
Malignant tumour up to 2 marks
6. Cell division by mitosis;
7. Tumour cells growth abnormal / continuous / uncontrolled / rapid;
8. Tumour cells spread / invade other tissues / form secondary tumours / metastasis;
9. Via blood / lymph system;
Describe and explain how gene expression is controlled (pre and post
transcription)
Pre transcriptional regulation
Transcription depends on the activation of
transcription factors
Usually by hormones (like oestrogen)
The transcription factors attach to the
promoter region of the DNA forming a
transcription factor initiation complex
This complex is recognised by RNA polymerase
which binds and begins transcription
one amino acid altered / code degenerate / same amino acid coded for;
A gene mutation may cause no change in the structure of the protein
coded for. Explain why.
Degenerate code / clear description;
(New triplet) codes for same amino acid;
Into cell/other
Evaluating Biotechnology
The whole point of creating genetically-modified organisms is to benefit humans, and the
benefits are
usually fairly obvious, but nevertheless there has been some vocal opposition to GMOs.
Opposition is
often based on ethical, moral or social grounds, such as harm to animals or the
environment, though there
can also be more practical issues, such as distrust of large corporations.
Benefits
Medicines and drugs can be produced safely in large quantities from microbes rather
than from
slaughtered animals. These medicines benefit humans and can spare animal suffering as
well.
Agricultural productivity can be improved while using less pesticides or fertilisers, so
helping the
environment. GM crops can grow on previously unsuitable soil or in previously unsuitable
climates.
GM crops can improve the nutrition and health of millions of people by improving the
nutritional quality
of their staple crops.
Risks
Risks to the modified organism. Genetic modification of an organism may have
unforeseen genetic
effects on that organism and its offspring. These genetic effects could include metabolic
diseases or
cancer, and would be particularly important in vertebrate animals, which have a nervous
system and so
are capable of suffering. The research process may also harm animals.
Transfer to other organisms. Genes transferred into GMOs could be transferred again
into other
organisms, by natural accidents. These natural accidents could include horizontal gene
transmission in
bacteria, cross-species pollination in plants, and viral transfer. This could result in a weed
being resistant
to a herbicide, or a pathogenic bacterium being resistant to an antibiotic. To avoid
transfer via crosspollination,
genes can now be inserted into chloroplast DNA, which is not found in pollen.
Risks to the ecosystems. A GMO may have an unforeseen effect on its food web,
affecting other
organisms. Many ecosystems are often delicately balanced, and a GMO could change
that balance.
Risk to biodiversity. GMOs may continue to reduce the genetic biodiversity already
occurring due to
selective breeding.
Risks to human societies. There could be unexpected and complicated social and
economic
consequences from using GMOs. For example if GM bananas could be grown in
temperate countries,
that would be disastrous for the economies of those Caribbean countries who rely on
banana exports.
Risks to local farmers. Developing GMOs is expensive, and the ownership of the
technology remains
with the large multi-national corporations. This means the benefits may not be available
to farmers in
third world countries who need it most.
Process uses
Nucleotides (normal A, T, C and G)
DNA to be sequenced (amplified by PCR)
Primers (to serve as the initiation point for chain synthesis)
Polymerase (joins nucleotides)
Electrophoresis
Separates DNA fragments of different sizes.
DNA samples are placed into wells cut in an aragose gel, covered in a buffered ionic
solution
Current is passed through the gel and the negative charged DNA moves toward the
positive electrode.
DNA fragments diffuse through the pores in the gel, and the larger pieces face a greater
resistance to movement than smaller pieces and so will travel a shorter distance.
Rate of movement depends
upon: strength of the field,
temperature of the buffered
solution, strength of the
ionic solution, pore size
DNA fragments cannot be
seen
DNA can be stained with
chemicals, azure A (makes
it blue) or ethidium
bromide which makes it
fluoresces under UV light.
DNA could be radioactively
labelled (using P32
isotope), and a
photographic film is placed
over the gel in a dark room
and the radioactivity
exposes the film
(autoradiography)
Marker genes can be
added to the gel. These
have a known base
length and can thus be
used to determine the
size of fragments
The fragments will
continue to diffuse after
the current is off, and the DNA bands will start to blur, so the DNA is usually
transferred to a nylon sheet in southern blotting (see below)
Genetic fingerprinting
Genome contains the same repetitive sequences (satellite DNA) of non-coding DNA. The
number of bases in the repeat sequence varies (ATG or AGCTTCA) and the length of the
repeat sequences (the number of times it repeats), and it is the length of the repeats that
are unique to each person.
This can happen in non-coding DNA as mutations will arise and be retained as this has no
functional impact
These repeating core sequences are called VNTRs (variable number tandem repeats) if
the sequence is between 10-80 bases or STRs (short tandem repeats) if the sequence is
between 2-9 bases.
The VNTRs can be cut using restriction enzymes; these will cut at recognition sequences
either side of the VNTR, so it will cut the same section for all people, but the number of
repeats and thus the distance between the recognition sites will vary and should be
unique to each person, this will produce different sized fragments (restriction fragment
length polymorphism)
Below person A (on top) has the same repeat sequence as person B, ATG, but in A this
repeats only 4 times, in B it repeats 13 times. When the fragments are separated on the
electrophoresis gel, person As DNA fragment will move further as it is smaller..
12
bases
ATGATGATGA
long
TG
39
bases
ATGATGATGATGATGATGATGATGATGATGATG
long
ATGATG
Restriction mapping
Process of identifying the types of restriction sites present in a piece of DNA, the number of
these sites and the location of the sites relative to each other.
Different restriction enzymes and combinations of enzymes are used to cut DNA
The fragments are separated by gel electrophoresis
The size of the fragments is used to determine the location of the restriction sites
(recognition sequences)
The fragment size can be determined by using marker fragments of known sizes on the gel
and comparing the unknown fragments. Remember the smaller a fragment the further it will
travel.
A partial digest is possible if the enzymes are not left long enough to make their cuts, thus
producing fragments of different lengths; there would be large fragments present that
would add up to more than the total length
There is also the risk that fragments of the same size are cut and would overlap on the gel,
so the total fragment length sum for the complete combined digest must be the same as for
each individual digest.
1 kilobase (kb) = 1000 bases/nucleotides)
Examples
A+B
17kb
2) Linear DNA is cut with the following enzymes and the fragments produced are
also noted
A = 0.8 and 6.2
B = 1.2 and 5.8
A + B = 5.8, 0.8 and 0.4
7 kb
3) Linear DNA is cut with 2 enzymes and the results are listed below
A = 2, 4 and 6
B = 4, 3 and 5
A + B = 2, 2, 2, 1 and 5
Q1. Sketch the gel
12 kb
Q2. Show the position of the restriction sites on a stretch of linear DNA
Answers
1.
2.
3.
4.
5.
7.
6.
8.
Genetic screening
1. A few cells are taken from a patient by biopsy.
2. DNA is extracted from the biopsy and if necessary amplified by PCR.
3. The DNA is labelled with a fluorescent chemical.
4. The DNA is denatured (i.e. separated into single strands) by heating or strong alkali.
5. The single-stranded DNA is added to the microarray and mixed for a few hours. DNA that has
a complementary sequence to any of the probes fixed to the microarray will hybridise to the
probes by complementary base pairing.
6. The microarray is washed with a buffer, washing away any loose fluorescent DNA that is not
hybridised to the probes on the chip.
7. If the microarray is illuminated with ultra-violet light, any spots where the subjects DNA has
hybridised to a probe will fluoresce and can be seen, while the spots where the probes havent
hybridised will remain dark. In practice the microarray is read with a laser, which illuminates
each spot in turn, recording the amount of fluorescence in each case on a computer.
8. The locations of the fluorescent, positive, spots are matched with the name of that probes
allele, giving a detailed genetic profile of the patient.