HEART

Cardiac cycle

Suggest how the location of the atheroma results in the position and size of this region of dead heart muscle.
The area of dead heart muscle will be downstream of the atheroma. Artery supplies (cells) with oxygen / glucose / oxygenated
blood . Tissue supplied by the blocked vessel will die due to lack of {energy / respiration}. If the atheroma is located near the end of
an artery then the area of dead muscle will be small .

Hole in septum
1. idea of oxygen rich and oxygen depleted blood mix / eq ; 2. idea that less blood pumped around body / blood pumped around
body has a lower oxygen concentration / less oxygen delivered to body ; OR blood pumped to lungs has a higher oxygen
concentration / less efficient gas exchange ; 3. idea that (systemic) blood pressure will be low ;

Semilunar valves present at the base of aorta

CELL MEMBRANE
Structure of cell membrane
It consists of a phospholipid bilayer which is made of phosholipid molecules .Phospholipid molecules form bilayer because of the
hydrohilic phosphate head (POLAR) and hydrophobic fatty acids tails which excludes water.(NON POLAR).Mention abut the
protein,glycoprotein/glycolipid and cholesterol.

F.diffusion A.transport

C.protein Same

Down the coc gradient Against concentrated diff

ATP not required. Required

Describe the process facilitated diffusion?

1. movement down a concentration gradient ; 2. that requires a { membrane / channel / carrier } protein ; 3. does not require ATP / is
a passive process

Why phospholipid molecules form bilayer. /Role of phosphlipids in forming cell membrane
1. phosphate heads are hydrophilic (POLAR) 2. Idea that heads can be attracted to water ; 3. fatty acids tails are hydrophobic(NON
POLAR) 4. Idea that tails orientate themselves away from water 5. Idea of aqueous environment on both sides of the membrane
(CYTOPLASM/WATER)

Compare fluid mosaic model and Davidson model

1. both have a phospholipid bilayer and protein / eq ; 2. idea that the fluid mosaic model has {proteins within the phospholipid layer /
protein channels } while the 1. ACCEPT point pieced together in response 2. needs clear comparative statement re the position of
the proteins in the two models, but can be expressed in a PMT Davison – Danielli model has protein layer on the outside of the
membrane only ; 3. reference to other components present in fluid mosaic model e.g. glycolipid, glycoprotein, cholesterol ;

Why Davidson model is not valid

1. idea that molecules would not be able to diffuse through the (two) protein layers / eq ; 2. idea of no {channels / carriers / protein }
for {facilitated diffusion / active transport / osmosis} ; 3. comment on fluidity of membrane / limits fusion of vesicles /eq ;

Suggest how glucose is taken into liver cells from the blood.
1. facilitated diffusion ; 2. down a concentration gradient / eq ; 3.Carrier protein

The hormone insulin activates an enzyme that converts glucose to glycogen in liver cells. Explain how insulin increases the rate at
which glucose is taken into liver cells.
1. the concentration of glucose (in the cell) decreases ; 2. resulting in steeper concentration gradient / eq ;

Why combination of high fat diet and low activity level may lead to CVD
1. idea of energy imbalance ; 2. idea of individual becoming {overweight / obese / eq } ; 3. idea of increased blood pressure ; 4. idea
of obesity leads to diabetes (a CVD risk factor) ; 5. idea of increased (blood) {cholesterol / LDL levels / LDL to HDL ratio} ; 6. idea of
{damage to endothelium / overloading of receptors} ; 7. formation of { atheroma / plaque / atherosclerosis } / eq ; 8. idea of {loss of
elasticity of artery / narrowing of lumen / eq } ;

BLOOD VESSELS
Structure of Aorta

Structure Function

Thick wall Withstand high pressure

Semilunar valve st the base of aorta To prevent backflow during diastole

Large lumen Accommodating large volume of blood

Smooth endothelial wall To reduce friction

Branches To supply blood to different parts of body including coronary

arteries.

Elastic fibres Allow walls to stretch when blood is pumped into the artery and
then recoil during diastole ,smoothing blood flow.(Recoiling
helps to maintain high blood pressure)

Difference between structure of veins and capillaries

Veins Capillaries

One cell thick

No valves

Narrow lumen

Porous

No elastic fibres,smooth muscles

Blood clots form only when required because the clotting factors used are present in inactive form in blood.

Artery transports blood under high pressure.Artery contains collagen fibres which provide strength.

insect does not need blood vessels to transport its blood around
the body.
(2)
1. correct ref to large surface area to volume
ratios ;
2. idea that (all) {cells / eq} are very close to
the {blood / heart} ;
3. idea that diffusion is fast enough for
exchange of {nutrients / gases / waste} ;
4. idea of low metabolism ;
5. idea that movement of blood back into the
heart is fast enough (to return blood back
into the heart) ;

describe the circulation of blood in a

fish.
1. (blood flows) from heart to gills ;
2. (blood flows) from gills to (rest of) body /
3. (blood flows) from body back to heart ;
4. ref to single circulation ;

suggest the advantages that the

human circulatory system has compared with that of a fish.
1. blood flows {faster /at higher pressure / eq}
(to the body) ;
2. blood flows {slower /at lower pressure / eq}
to the lung ;
3. idea that this reduces risk of damage to lungs
4. correct ref to more efficient {exchange /
transport} of gases / eq ;

Explain why atherosclerosis is a risk factor for coronary heart disease. (3)
1. formation of blood clot / thickening of artery wall / eq ; 2. { blocks / narrows } coronary arteries ; 3. reduces blood flow ; 4.
depriving heart muscle of { oxygen / nutrients / eq } ;

Why statins reduce the risk of CVD

1. (statins) inhibit the synthesis / production of cholesterol (in the liver) 2. reducing (total) blood cholesterol levels ; 3. raises HDL
levels / increases HDL : LDL ratio / lowers LDL ;

Factors that increase blood pressure

1. age 2. genetics 3. smoking / tobacco products 4. lack of exercise 5. high { salt / sodium } consumption 6. stress / adrenalin 7.
being overweight / obese 8.sex

Factors that increase the risk of CVD

More saturated fat / more cholesterol / more salt /obesity / more alcohol / more age / male / postmenopausal women / high blood
pressure / smoking / diabetes / less activity / stress ; Genetic

Why HBP causes the risks of CVD to be increased?

1. high blood pressure can cause damage to the endothelial (lining of arteries) ; 2. leads to { inflammatory response / accumulation
of white blood cells } ; 3. reference to formation of { plaque / atheroma / atherosclerosis } ; 4. lumen is { restricted / narrowed } ; 5.
resulting in cells being deprived of { oxygen / nutrient }

Dietary factors tat increas the risk of CVD

1) high {salt / sodium} 2) high cholesterol 3) high saturated fat / high trans-fat 4) high calories 5) high alcohol 6) low fibre / low NSP
7) low antioxidants / low vitamin C / low vitamin E ;

Risks of antihypertensives
blood pressure falls too low / coughs / swelling of ankles / impotence / tiredness / constipation / headache / confusion / depression /
excessively low heart rate / allergy / stroke / provoked type II diabetes / frequent urination / fainting / dizziness

How lowering blood cholesterol level can reduce the risk of CVD
1. (less) cholesterol (in blood) to build up on artery (wall) / eq ; 2. less likely to develop atherosclerosis / eq ; 3. credit correct
reference to subsequent consequence of atherosclerosis e.g. narrowing of arteries, ischaemia, decrease in flow of blood (to heart) ;
BIOLOGICAL MOLECULES

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How fail in glucose breaksdown affect muscle contraction?

Less glucose available from breakdown of glycogen to glucose.Glucose is required {to provide ATP / to provide energy / for
respiration} ;

Difference between Fibrinogen and Fibrin.

1.Idea that fibrinogen is globular and fibrin is fibrous ; 2.fibrinogen is soluble and fibrin is insoluble

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How primary structure of protein determines 3D and properties of enzyme.first wow eat and then we ee worse 2ww​w2w set​ we
Primary structure is the sequence of amino acids which determines the { positioning / type } of the bonds such as disulphide bond
between 2 cysteine molecule,ionic bond and so on .Polar / hydrophilic R groups on the outside of enzyme ans non polar /
hydrophobic R groups on the inside .Enzyme is globular / soluble .It also determines the shape of the active site which makes the
enzymes specific .

Why different enzymes for different substrates?

1. reference to enzymes being { specific } ; 2. due to shape of active site ; 3. only allowing certain substrates to { bind / fit / form a
complex / eq } ; 4. glucose molecule and galactose molecule have different shapes ;

why a diet consisting of a high proportion of carbohydrates could lead to obesity

Carbohydrates providing a source of energy .If the energy input is greater than the energy output (weight will be gained) . Excess
carbohydrate converted to fat
MEANING
Catalysts
1. speeds up the rate of reaction / eq ; 2. without being {changed/used up / eq} ; 3. lowers activation energy / provides an alternative
reaction pathway / eq ; 4. does not change {products / position of equilibrium / eq } / eq ;

Hydrolysis
1. breaks the (glycosidic) bonds / eq ; 2. reference to use of water ;

Gene mutation
Alteration in DNA and change in base {sequence / quantity} / eq ;

Semiconservative replication
1. idea that (new) DNA is synthesised ; 2. idea of a new DNA contains original strand and new strand
3.both strands of original DNA (molecule) are copied/replicated/act as templates ;

Genotype is genetic constitution of an organism

Phenotype is all the characteristics of an organism which is determined by an interaction between genes and the environment ;
Recessive: both of these alleles need to be present in order for the recessive phenotype to be expressed ;

Allele different form of a gene

Primary structure:sequence of amino acids joined by peptide bonds ;

Recessice allle:Give the meaning of allele first and then others.

Fluid mosaic:1. phospholipids can move (in the plasma membrane) ; 2. proteins randomly inserted (in plasma membrane) / eq ; 1.
ACCEPT {proteins / molecules / eq} can move around within the phospholipid (mono)layer ; 2. ACCEPT variety of different {proteins
/ glycoproteins} ; ACCEPT proteins scattered in the membrane ;
GENETIC DIAGRAM

(recessive disorder)
The female who definitely has a homozygous genotype is Jane
The female whose genotype cannot be identified from the diagram is Lily
A male who definitely has a heterozygous genotype is Adrian
A male who definitely is homozygous dominant is none of them

Tay-Sachs disease is caused by a gene mutation that results in the build up of lipid in the brain. It is hoped that gene therapy will be
able to treat this disease in the future. Sheep can also suffer from Tay-Sachs disease. Investigations have found that gene therapy
increases the life span of these animals.
How gene therapy investigations could be carried out?
Identify and isolate a norml gene which codes for a specific protein..Insert it into a vector(liposome or virus).Inject vector into brain
Use control injections which contains empty vectoes to another group .Progression of disease is recorded together with the life
span.Make an appopriate coparison with untreated sheep.Treatment needs to be repeated .Replicate the investigations..

________________________

Give two ethical or social issues related to the use of genetic screening for genetic disorders.
1. abortion / false positives / killing healthy fetus / eq ; 2. miscarriage / damage to embryo
_Elaboation for 1: Which might leads to abortion of healthy fetus. 2.loss of fetus /risk to mother
__________________________________________
Explain how this pedigree diagram indicates that galactosaemia is caused by a recessive allele.
1. { parents / 8 and 9 } do not have galactosaemia but { some of their children / 12 and 13 } do ; 2. { parents / 8 and 9 } must be {
heterozygous / carriers } ; 3. idea that it is very unlikely to have a spontaneous mutation happening { 2 / 3 } times in the same family
tree ; 4. idea of low frequency of recessive alleles ;

Using a suitable genetic diagram, calculate the probability that the next child of parents 8 and 9 will have galactosaemia.
1. genotype of heterozygous parents shown e.g. Gg x Gg ; 2. genotypes of possible children correctly shown ; 3. (probability =) ସ/
25% / 1 in 4 / 0.25 ;
_______________
Explain why this pedigree diagram shows that individuals 5 and 6 are carriers of the PKU disorder.
1. idea that (recessive condition so individual) 8 must have inherited one copy of the recessive allele from each parent ; 2. idea that
neither 5 or 6 is affected so {they can’t be homozygous / must be heterozygous} for the condition ;
_______________________________

The chances of U being heterozygous for this disease is 50 percent.

Explain how gene therapy could be used to treat individuals with LCA.(3m)
Identify and obtain unaffected or normal gene coding for a ​specific protein (name it ).​.. Insert the gene into a vector​ (liposome or
virus) to intorduce the gene to cells.
Introduce the vector to the​ eye /target cells (name it)​ that produce​ (normal mucus for example cystic fibrosis) ​through a suitable
delivery mechanism .(spray/injection/nebulisers).The gene produces a functioning protein.The treatment​ needs to be repeated due
to cell replacement.

Why gene therapy is potential?

gene therapy uses normal genes so the normal protein is produced (by the cells)
_________________
Two parents are both carriers of the recessive allele for Krabbe disease. In the space below, draw a genetic diagram to show the
possible genotypes and phenotypes of their children. Use the genetic diagram to find the probability of these parents having a child
with Krabbe disease.
(probability =) ¼ / 25% / 1 in 4 / 0.25 ;

-----------------------------------------------

---------------------------------------------------------------------------------
Explain how preimplantation genetic diagnosis is performed to detect cystic fibrosis.
1. reference to {IVF / description of preimplantation} ; 2. {embryo / eq} DNA analysed / eq ; 3. presence of CFTR {gene mutation /
faulty allele / eq} tested for / eq ;

Discuss either one ethical issue or one social issue relating to the use of preimplantation genetic diagnosis.
1. who has right to decide if tests should be performed / eq ; 2. {implications of medical costs / disagreements over next step /
embryo has rights} ; OR 3. issues relating to confidentiality of {parents / child} / eq ; 4. idea that {some other abnormality may be
found / paternal DNA does not match / other family members have right to know results} ; OR 5. idea some other abnormality may
be found / false negative ; 6. comment on possible problems with e.g. future employment / insurance / what constitutes a serious
condition / eq ; OR 7. idea that embryo could be {damaged / destroyed / discarded / eq} / false positive ; 8. embryo {is a potential life
/ has rights} /destroying embryo is {wrong / unethical / murder / eq} ;

_____________________________

Use a genetic diagram to calculate the probability that Sahan and Alina’s first child will be heterozygous (a carrier) if Sahan is
heterozygous.
50 percent
What is the probability that their second child would also be a carrier?
50 percent
______________

calculate the probability of having

a child with cystic fibrosis if both partners are found to be carriers. Draw a genetic
diagram to explain how you calculated this probability.
25.percent
_________________
Hereditary haemochromatosis is a disorder resulting from the inheritance of recessive alleles
Explain how a genetic pedigree diagram could show how haemochromatosis is inherited.(Write in paragraph not diagram)
1. parents and offspring for each generation identified ; 2. phenotype(s) identified ; 3.for {HC /recessive condition} two
normal/unaffected parents may have {one or more / some / eq} offspring that are affected ;

______________
Name one method of prenatal testing and describe how it can be used to detect hereditary haemochromatosis.(4m)
1. amniocentesis ; 2. amniotic fluid collected ; 3. between 14 and 20 weeks of pregnancy ; 4. cells are cultured (for 2-3 weeks) ; or 5.
chorionic villus sampling/CVS ; 6. sample taken from placenta ; 7. between 8 and 12 weeks of pregnancy ; 8. DNA analysed (for
recessive allele) ;
______
MUTATION

Explain why a mutation in the gene coding for the enzyme Gal-1-PUT could lead to the inability to break down galactose.
Change in DNA sequence which leads to different mRNA .So there is a change in primary structure of protein .Different R groups
causes theprimary structure to be folded in a different way. Change in shape of the active site so galactose does not fit in the
enzymes active site .So no enzyme available to break down galactose

For class I cystic fibrosis, suggest how a mutation in the CFTR gene could result in no CFTR protein being synthesised
1. mutation changes the sequence of bases / eq ; 2. reference to stop code / idea of {insertion / deletion / eq} changes all triplets /
frame shift / eq ; 3. {transcription / translation} does not occur / mRNA too short / protein too short / a different protein is made / eq ;

) The mutation causing class III cystic fibrosis results in a change in the primary structure of the CFTR protein. Explain why this
would result in the CFTR protein being mis-folded
1. (change in) {number / type / sequence / eq} of {amino acids / R groups} ; 2. So the {bonding / named bond } will be different / eq

For class IV cystic fibrosis, explain why a faulty opening of the CFTR protein would affect the functioning of this protein.
1. CFTR is a channel protein / eq ; 2. idea that {fewer / no} chloride ions will be able to {enter / bind to / pass through / eq} the CFTR
protein ; 3. idea that fewer chloride ions will leave the cell

Describe the effect of having smaller quantities of CFTR protein

1. less {chloride ions / water} in mucus / eq ; 2. idea that mucus is different e.g. thicker, stickier ; 3. in the {respiratory system / lungs
/ digestive system / pancreas / reproductive system / oviducts / fallopian tubes / cervix / sperm duct / vas deferens / eq } ; 4. credit
correct reference to a consequence of thicker mucus ;

For class VI cystic fibrosis, suggest how the CFTR protein is broken down
1. by {enzymes / proteases} ; 2. by hydrolysis / eq ; 3. of peptide bonds ;

Suggest how mutations in the CTFR gene affect the movement of water through cell membranes.
Mutation changes the primary structure of the (CFTR) protein .Incorrectly folded (CFTR) protein Chloride ions will not move out of
the cell .Water does not move out of the cell by osmosis ;

Suggest why a person with beta thalassaemia has symptoms of anaemia.

1. idea of (mutation / named mutation) causing different base sequence ; 2. reference to different {sequence of amino acids /
primary structure} / eq ; 3. reference to {β chain / haemoglobin / protein / polypeptide} being the wrong shape ; 4. haemoglobin no
longer binds oxygen / binds less oxygen / eq ; 5. {less / no } oxygen {supplied / carried / eq} (to the cells) / eq ; 6. correct reference
to respiration / eq ; 7. idea of breathlessness due to body trying to take in more oxygen ; 8. idea of tiredness due to lack of energy ;

SMOKING
Smoking may result in the lung condition called emphysema. Emphysema is caused by damage to the alveoli in the lungs, resulting
in a smaller SA for gas exchange. Air is trapped in the lungs, reducing the concentration gradients of gases. As a result, less oxygen
is absorbed into the blood by the process of diffusion.

GAS EXCHANGE

Suggest how gas exchange occurs in an amoeba.

1. (gas exchange) occurs through the {cell membrane / phospholipid bilayer} ; 2. idea that the membrane is thin ; 3. oxygen enters
cell (from water) / eq ; 4. carbon dioxide leaves cell (into water) / eq ; 5. {O2 / oxygen / CO2 / carbon dioxide} are {small / non-polar}
(molecules) ; 6. reference to diffusion ; (suitable) concentration gradient ; 8. reference to large surface area (to volume ratio)

How oxygen passes from the cell membrane into the centre of an amoeba.
1. reference to diffusion (in the cytoplasm) ; 2. through the cytoplasm / description of part of cytoplasm / eq ; 3. down a concentration
gradient (in the cytoplasm)

The circulatory system is vital for efficient gas exchange in mammals. Explain how the circulatory system in mammals enables
efficient gas exchange.
1. idea that mass flow generated by heart ; 2. idea that moving blood helps to maintain a concentration ient ; 3. idea that a { steep /
eq } concentration ient gives a { fast / eq } rate of diffusion ; 4. idea of { network / lots / eq } of capillaries ; 5. large surface area of
capillaries / eq ; 6. idea that large surface area increases the rate of diffusion ; 7. idea that capillaries have very thin walls ; 8. idea
that diffusion is fastest over small distances ; 9. idea that no {organs / cells / tissues } are far away from blood / capillaries cover
alveoli / eq ; 10. idea that efficiency is related to double circulation

Describe how the structure of the human lungs is adapted for efficient gas exchange.
1. many (small) alveoli which provides large surface area.Covered by extensive network of capillaries which maintains
concentration gradient. Thin {capillary walls / alveolar walls} which gives a shorter diffusion distance .increases rate of diffusion
(Faster)

Suggest why C. elegans does not need a specialised gas exchange system
1. idea that only a short distance from surface of C. elegans to cells inside body ; 2. idea that diffusion (alone) is sufficient ; 3. idea
that C. elegans has low activity ;

How blood clot in lungs decreases Gas exchange?

Reduces the flow of blood to the lungs .Decreases the {concentration gradient / diffusion rate}

In mammals, blood passes through the heart twice for each circulation of the body. Suggest how this type of circulation enables
mammals to carry out effective gas exchange
One side of heart pumps blood to the lungs the other to the rest of the body .There is a separation of oxygen rich and oxygen
depleted blood .This is maintaining gas concentratioo gradient (in the lungs / tissues) .Lower pressure in the pulmonary side
protects delicate alveoli capillary networks .Hiigher pressure in systemic circuit allows rapid supply of O2 to body cells .;

Why flatworms are found in water at 15 degree celcius? (AS the temp increases ,the solub of oxygen decreases.)
1. idea that there is quite a lot of dissolved oxygen in the water at this temperature ; 2. idea of oxygen concentration gradient
(between water and flatworm’s cells) ; 3. idea of enzyme activity being temperature-dependent ; 4. idea that water below 15oC
would be too cold for {enzymes / metabolism / eq} to work effectively ; 5. idea that it is a balance between oxygen availability and
{enzyme activity / kinetic effects /eq} ; IGNORE there is most oxygen available 1. ACCEPT sufficient O2, not enough O2 at higher
temps. 2. Ref. to diffusion or gas exchange alone, not sufficient for the mark 3. ACCEPT e.g. 15oC is optimum for their enzymes
NB: This is for linking enzymes and temperature, Mp4 is a development of Mp3 stating something specific.

ENZYMES

Explain how the primary structure of an enzyme determines its three-dimensional structure and properties.
The primary structure determines the positioning and type of the bonds ; e.g. disulfide bond btween 2 cysteine molecules
,hydrogen, ionic bonds, hydrophobic interactions between R groups.Polar / hydrophilic R groups on the outside of enzymes and non
polar or hydrophobic on the inside making the enzyme globular and soluble It also determines the shape of the active site which
makes the enzyme specific .Interaction of active sites and substrates results in enzyme substrate complex.

Why enzymes can break down substrates so quickly?

Enzyme is a catalyst wich lowers activation energy without being used up in the reaction .Once reaction is complete, the enzyme
detaches from productsand can then bind to another substrate

The 3D structure of enzyme(3m)

1. globular 2. reference to active site ; 3. reference to specific shape of active site ; 4. Disulphide bond between R groups of
cysteine molecues ;

CYSTIC FIBROSIS

Explain how cystic fibrosis affects the digestive system

1. reference to CFTR {gene / channel} not functioning properly ; 2. reference to {thicker / stickier
/ eq } mucus ; 3. (mucus) blocks (pancreatic) {duct(s) / eq } ; 4. in the pancreas ; 5. idea that
enzymes cannot {be secreted into / reach} small intestine ; 6. idea of reduced digestion of {food
/ named food} ; 7. reference to reduced absorption / eq ; 8. idea of {malnutrition / weight loss} ;
9. idea of {self-digestion of (pancreatic) cells / problems controlling blood sugar levels / cysts /
fibroids} ;

……………………………………………….
Suggest why cells from mouth swabs or blood samples are used rather than
gametes for carrier test.
1. idea that these cells are {easy / painless} to
collect ;
2. idea that a relatively {large amount of DNA /
large number of cells} can be collected ;
3. they {contain diploid cells / have (23) pairs of
chromosomes} ;
4. cells {are genetically identical / have same
DNA / have same alleles} ;
5. any {recessive allele / mutated (CF) gene}
will be present in them / eq ;
6. idea that if the gametes were tested they
may not contain the {recessive allele /
mutated (CF) gene}(as they are haploid)

Explain why it is necessary to test for several different recessive alleles in the
screening for cystic fibrosis.
cystic fibrosis results from one of a number of
possible mutations (of this gene) /eq ;
2. idea that testing for only one will miss other
recessive alleles ;

Explain why it is necessary to test for several different recessive alleles in the
screening for cystic fibrosis.
(2)
1. idea that any other family member could be a
carrier ;
2. idea that informed choices can be made
about having children (if they know that they
are carriers) ;

In the risk analysis shown, if neither partner is a carrier then it is considered

that the chance of having a child with cystic fibrosis is low. Explain why the
probability of having a child with cystic fibrosis is low and not zero.
1. ref to false negatives / eq ;
2. idea that the screening programme does not
test for all the possible mutations that can
cause cystic fibrosis ;
3. idea that a mutation may occur in the
formation of the gametes ;
4. idea of mutation in both gametes ;
5. idea that a mutation may occur after
fertilisation ;
…………………………………………………..