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Topic 1:

Lifestyle,

Health and
Risk
Explain the importance of water as a solvent in transport,
including its dipole nature. (2).
June 2010: Water is described as a dipolar molecule because it has a:
Positively charged hydrogen end and a negatively charged oxygen end

Distinguish between monosaccharides, disaccharides


and polysaccharides (glycogen and starch amylose and
amylopectin) and relate their structures to their roles in
providing and storing energy (3).
June 2009:
Triglycerides are composed of:
1 glycerol molecule and 3 fatty acid molecules
The bond between a glycerol molecule and a fatty acid molecule is:
An ester bond

This bond is formed by:


Condensation
Unsaturated lipids:
Have double bonds between carbon atoms and between carbon and oxygen atoms
Saturated lipids have:
more hydrogen atoms than unsaturated lipids
June 2010: The questions below refer to some important biological molecules:
Disaccharides can be split by:
Hydrolysis of glycosidic bonds
Amylose is an example of a:
Polysaccharide
The role of starch is to:
Store energy in plants
Proteins are polymers of amino acids joined by peptide bonds formed between the:
Carboxyl group and the amino group
January 2012: Fats and carbohydrates such as glycogen are important energy storage
molecules. These are broken down during exercise. Describe the structure of glycogen and
explain why it is a suitable molecule for storing energy.
Structure:

Consists of () glucose

Idea that it is easily / rapidly hydrolysed

Joined by 1,4 / 1,6 glycosidic bonds


Branched structure

Idea of compact structure


Function:
Leading to more glucose in a smaller space in a cell
Idea of low solubility
It does not diffuse out of cells
It has no osmotic effect (large etc)

January 2012: A carbohydrate-loading diet is used by athletes in preparation for some


athletic events. This diet involves increasing carbohydrate intake and decreasing activity,
several days before the event. Carbohydrate-loading is not a suitable method of preparation
for all athletic events. Using your knowledge of glycogen, explain what type of athletic event
could be prepared for using a carbohydrate-loading diet

Idea that this diet is suitable for a high intensity event


Credit suitable example of athletic event e.g. any endurance or power event
Reference to carbohydrate being stored as glycogen
Idea of maximum / more / lots of glycogen stored
Idea that breakdown of glycogen provides energy for the event

June 2012: Carbohydrates are important components of our diets. Distinguish between the
structures of each monosaccharides and disaccharides and amylose and amylopectin of
carbohydrate molecules.
Monosaccharides and disaccharides:

Idea that a monosaccharide consists of one sugar / named sugar / unit whereas a disaccharide
consists of two sugar units

Idea that disaccharide has a glycosidic bond whereas monosaccharide does not
General formula for a monosaccharide is CnH2nOn whereas formula for disaccharide is CnH2n2On-1
Amylose and amylopectin:

Amylose is straight chained / unbranched whereas amylopectin is branched


Amylose coiled whereas amylopectin is not
Amylose has 1-4 glycosidic bonds whereas amylopectin has 1-4 and 1-6 glycosidic bonds
January 2013: Enzymes act as biological catalysts. Amylase is an enzyme present in saliva
that catalyses the hydrolysis of starch into maltose. Describe the structure of starch.

glucose
Glycosidic bonds / links
Amylose and amylopectin
Amylose has 1- 4 glycosidic bonds / links
AND amylopectin has 1- 4 and 1- 6 glycosidic bonds
Amylose is spiralled / coiled
Amylopectin is branched
Compact molecule

January 2013: Explain the meaning of the following terms: catalyst and hydrolysis.
Catalyst:

Speeds up the rate of reaction


Without being changed / used up
Lowers activation energy / provides an alternative reaction pathway

Does not change products / position of equilibrium


Hydrolysis:

Breaks the glycosidic bonds


Reference to use of water

January 2013: Bread contains a high proportion of starch. If bread is chewed for a long
period of time it begins to taste sweet. Suggest why bread tastes sweet after chewing for a
long period of time.
Idea that maltose / disaccharide / glucose / monosaccharide is produced and so tastes sweet.

Describe how monosaccharides join to form disaccharides


(sucrose, lactose and maltose) and polysaccharides (glycogen
and amylose) through condensation reactions forming
glycosidic bonds, and how these can be split through
hydrolysis reactions.(4)
June 2011: In the space below, draw a diagram to show the products formed when
galactose and glucose molecules join together to form lactose.

Both

in
correctly

hexose molecules
disaccharide
drawn

Indication

that water is

Glycosidic

bond correctly

formed
drawn

June 2011: Name the chemical reaction that joins the galactose and glucose molecules
together.
Condensation reaction (polymerisation)
June 2011: Name the bond that joins the galactose and glucose molecules together.
1-4 glycosidic bond

Describe the synthesis of a triglyceride by the formation of


ester bonds during condensation reactions between glycerol
and three fatty acids and recognise differences between
saturated and
unsaturated

lipids.(5)
January 2011: Show the synthesis of a triglyceride by a condensation reaction.

Explain why many animals have a heart and circulation (mass


transport to overcome limitations of diffusion in meeting the
requirements of organisms).(6)
January 2010: the table below refers to blood flow in the four major blood vessels of the
human heart. If the statement is correct, place a tick in the appropriate box and if the
statement is incorrect, place a cross in the appropriate box.
Name of blood vessel

Carries blood away from heart

Carries oxygenated blood

Aorta

tick

tick

Vena cava

cross (X)

cross (X)

Pulmonary artery

tick

cross (X)

Pulmonary ven

cross (X)

tick

January 2010: Describe the circulation of blood in a fish.

Blood flows from heart to gills


Blood flows from gills to rest of body
Blood flows from body back to heart
Ref to single circulation

January 2010: Suggest the advantages that the human circulatory system has compared
with that of a fish.

Blood flows faster/at higher pressure to the body


Blood flows slower/at lower pressure to the lung
Idea that this reduces risk of damage to lungs
Correct ref to more efficient exchange/ transport of gases

January 2010: The heart of an insect is a long tube. It pumps blood into the body cavity so
that blood surrounds the cells. The blood then passes back into the heart from the body
cavity. Suggest why the insect does not need blood vessels to transport its blood around
the body.

Correct ref to large surface area to volume ratios


Idea that all cells are very close to the blood / heart
Idea that diffusion is fast enough for exchange of nutrients / gases / waste
Idea of low metabolism
Idea that movement of blood back into the heart is fast enough to return blood back into the
heart

June 2010: Read through the following passage about the heart and its major blood
vessels, added on the dotted lines are the most appropriate word or words to complete the
passage.
The mammalian heart consists of four chambers, two upper chambers called
....................atria........................... and two lower chambers called ventricles.
The ..................aorta............................. carries oxygenated blood away from the
.....................left.......................... ventricle to the cells of the body and the pulmonary
..................artery............................. carries deoxygenated blood to the lungs. The vena
cava............................. returns deoxygenated blood back to the heart from the body.
January 2011: Give one reason why many animals have a circulatory system.

Idea that it overcomes limitations of diffusion / it is involved in transport / heat transfer.


January 2011: Explain why a mammalian heart is divided into a right side and a left side.

Idea that it keeps oxygenated and deoxygenated blood separate


Idea that this results in as much oxygen as possible being carried to the tissues / cells
Reference to different pressures in each side / need for different pressures explained

June 2012: Many animals, such as mammals, have a heart and circulation. This helps them
to meet their requirements by overcoming the limitations of diffusion. Describe the
structure of the mammalian heart.

Idea that there are four chambers


Correct reference to relative position of atria and ventricles
Idea of left and right sides separate / septum
Reference to muscular nature of walls
Reference to cardiac muscle
Idea of relative thickness of ventricle walls
Correct reference to position of atrioventricular valves
Correct reference to position of semilunar valves
Reference to position of tendons / tendinous cords / papillary muscles
Correct reference to position of aorta / pulmonary artery
Correct reference to position of vena cava / pulmonary vein
Correct reference to coronary arteries
Reference to SAN / Sino Atrial Node / pacemaker/ AVN /Atrioventricular Node / Purkinje fibres
/Purkyne fibres / Bundle of His

June 2012: Using your own knowledge, explain the importance of the heart and circulation
to a giraffe.

Idea that the heart has to pump blood a long way around the body of the giraffe

Idea of oxygen / glucose needed as high metabolic rate / high rate of respiration

Therefore blood needs to be pumped at high pressure


Blood vessels are needed to contain the blood / reference to closed circulation
Idea of double circulatory system
Capillaries needed to ensure that all parts of giraffe are close to blood supply
Idea of need for a circulation to provide oxygen / remove carbon dioxide / other correct named
substance
Idea of diffusion not meeting the requirements of the giraffe
Reference to low surface area to volume ratio
Idea that circulatory system helps regulation of body temperature

June 2012: Suggest why there are changes to the available energy (ATP) in the heart muscle
cells following the loss of blood flow.

Idea of less / no oxygen available


Idea of less / no respiratory substrate / glucose
Less / no cellular / aerobic respiration

Describe the cardiac cycle (atrial systole, ventricular systole


and diastole) and relate the structure and operation of the
mammalian heart to its function, including the major blood
vessels. (7)
June 2009: State whether the atria and ventricles are contracted or relaxed in each of these
stages: atrial systole, ventricular systole, diastole:
Atrial systole: atria contracted, ventricles relaxed
Ventricular systole: atria relaxed, ventricles contracted
Diastole: atria relaxed, ventricles relaxed
June 2009: Describe the roles of the atrioventricular (bicuspid and tricuspid) valves during
the cardiac cycle.

valves separate atria from ventricles

open during atrial systole/contraction


so that blood can pass through to ventricles
closed during ventricular systole/ contraction
to prevent blood being forced back /backflow / up into atria to maintain pressure in ventricles
open during diastole
so that ventricles can start to fill up as atria are filling

June 2009: During the cardiac cycle, the pressure in the right ventricle rises to a maximum
of about 3.3 kPa. Suggest reasons for the difference between this pressure and the
maximum pressure in the left ventricle.

Correct reference to pressure differences e.g. left is higher


Left ventricle pumps blood all around body/ to rest of body / many arteries / systemic
Right ventricle pumps blood to lungs/ pulmonary system.
Idea that if blood under high pressure there would be damage to lungs / capillaries
Reference to lots of muscle contracting in left ventricle / reference to thick wall of left ventricle

January 2013: Read through the following passage on the cardiac cycle, on the dotted
lines the most appropriate word or words have been written in to complete the passage.
The cardiac cycle consists of three stages: atrial systole, ventricular systole and
....................diastole.................... .
During atrial systole, the ..........atria............. contract and the
..........................ventricles............ are relaxed. The ..........atrioventricular............ valves are open.
During ventricular systole, the .semilunar valves.................... open as oxygenated
blood is forced out of the heart through the aorta to the body and through the pulmonary
................artery...................... to the lungs.

Explain how the structures of blood vessels (capillaries,


arteries and veins) relate to their functions. (8)
January 2011: The table below refers to the structure of capillaries and veins.
Type of blood vessel

Valves present along the


length of the vessel

Wall consists of single


layers

Endothelial cells present

Capillary

No

Yes

Yes

Vein

Yes

No

Yes

January 2011: Semilunar valves and elastic fibres are found in the aorta.
For each of these structures, describe its location in the aorta and explain its function.
Semilunar valves:

Located at the base of aorta


Prevents backflow of blood into heart / ventricles)
During diastole/atrial systole
Elastic Fibres:

Middle layer of wall of vessel / tunica media / in the muscle layer


Reference to allows stretching / recoil / description
To prevent damage of the aorta / to maintain the pressure of the blood
January 2013: Explain how the structure of the aorta relates to its function.

Idea that there is a thick wall / lots of collagen / thick layers / thick tunica media (ALLOW idea of

folded wall) idea that it needs to avoid rupture / to withstand high pressure (IGNORE damage
alone ALLOW stretch to accommodate more blood)

Elastic / muscular/ layer / fibres / wall controlS the flow of blood / maintain blood pressure /
elastic recoil (ALLOW to squeeze blood along smooth endothelial wall to reduce friction /
resistance

Semi lunar valve present to prevent backflow of blood into the heart during diastole
Large lumen (IGNORE narrow lumen) idea of accommodating large volumes of blood
Branches to supply blood to different parts of the body including coronary arteries
January 2013: Describe two differences between the structure of a capillary and the
structure of a vein.

Capillary walls are one cell thick


No elastic tissue / collagen / muscle / multiple layers in the capillary walls
No valves in capillaries
Capillaries have a very narrow lumen
Capillaries are porous / have pores

Describe how the effect of caffeine on heart rate


in Daphnia can be investigated practically, and discuss
whether there are ethical issues in the use of invertebrates. (9)
January 2010: Describe an experiment that the student could perform, using Daphnia, to
confirm that herbal tea has the lowest caffeine content.

Idea of heart rate determined before treatment


Idea that daphnia need to be put into tea and allowed to acclimatise
Practical detail e.g.use of microscope
Details of determining heart rate described
Ref to named controlled variable
Ref to repeats / replicates

Idea that heart rate of daphnia determined in white tea only / known caffeine concentration
January 2010: Give one ethical reason for the use of invertebrates and one ethical reason
against the use of invertebrates in experiments of this type.

For:

Daphnia are very simple organisms / Daphnia have basic nervous system

Against:

Use of (any) animal is wrong / how can we be sure what the Daphnia can feel / ref. to possibility
that the Daphnia could die
January 2013: An investigation was carried out to study the effect of caffeine on the heart
rate of a chicken embryo. The heart from a chicken embryo was removed and placed in a
glucose solution. The heart rate was determined and recorded as the base heart rate. The
experiment was repeated using glucose solutions containing five different concentrations
of caffeine. The heart rate was determined and recorded as a percentage of the base heart
rate for each solution. Suggest why glucose was included in the solutions.

Glucose provides respiratory substrate


To provide energy for heart muscle contraction
Reference to osmotic effect

January 2013: Suggest how the caffeine solutions were prepared to obtain valid results.
Glucose / pH at same concentration / volume / value.
January 2013: State how these results could be made more reliable.
Reference to replication procedure.
January 2013: Describe how this investigation could be carried out using Daphnia instead
of chicken embryos.

Details of method to limit movement of Daphnia e.g. use of cotton wool IGNORE cavity slide
Reference to determining base heart rate in absence of caffeine ALLOW measure heart rate in
0% caffeine NOT distilled water

Reference to use of range of caffeine concentrations


Acclimatisation of Daphnia in each solution
Details of method to determine heart rate e.g. dots on paper in a set time / use video camera
IGNORE just counting

Repeats / replicates
Named control variable e.g. source / size / age / type / of Daphnia, temperature, pH
January 2013: Suggest one ethical issue in the use of chicken embryos in this investigation.
Chicken embryo is a vertebrate / feels pain / will die / cannot give consent

Describe the blood clotting process (thromboplastin release,


conversion of prothrombin to thrombin and fibrinogen to fibrin)
and its role in cardiovascular disease (CVD).(10)
January 2010: There are many venomous (poisonous) snakes in the world. Many of the
venoms from these snakes affect the blood clotting process. Describe the blood clotting
process.

Idea that there is a cascade of events leading to blood clotting


Ref to thromboplastin starting the cascade
Ref to conversion of prothrombin into thrombin
Idea that thromboplastin / thrombin is an enzyme / a catalyst
Ref to conversion of fibrinogen in to fibrin
Ref to formation of mesh of fibres/fibrin
Ref to requirement of calcium ions/ Ca2+ / vitamin K
Ref to platelets/blood cells getting trapped in the mesh

June 2010: Using your own knowledge of the blood clotting process, suggest why frequent
cocaine use could increase the risk of a blood clot forming with the knowledge that the von
Willebrand factor is involved in platelets sticking to each other and platelets sticking to the
endothelial lining of blood vessels .

Idea that von Willebrand factor results in platelets sticking to the endothelium / each other.
Reference to release of thromboplastin from platelets.

As a result the blood clotting process is triggered.


Credit one correct detail of clotting process.
Reference to more fibrinogen resulting in the clot being larger / growing faster.
Reference to von Willebrand factor making the platelets stickier.
As a result of platelet stickiness / platelets sticking together the clot grows faster / blood flow is
decreased.

If the blood is flowing slower then there is an increased chance of blood clotting
June 2013:

Explain the course of events that leads to atherosclerosis


(endothelial damage, inflammatory response, plaque
formation, raised blood pressure).(11)

June 2009: One cause of coronary heart disease is atherosclerosis. Describe how
atherosclerosis develops.

Damage to endothelial cells / epithelial cells / cells lining artery wall


Reference to inflammatory response
Reference to accumulation of white blood cells in damaged area
Buildup of cholesterol in damaged area
Reference to buildup of calcium salts / fibrous tissue / fibrin / platelets
Reference to formation of atheroma/ plaque
Reference to loss of elasticity of artery / narrowing of lumen
Idea that this process is selfperpetuating

January 2011: Cardiovascular diseases are very common in the Western World. (a) Many
cardiovascular diseases result from atherosclerosis.
Atherosclerosis usually results from the formation of plaques inside:
Arteries
The plaques begin to form after damage to:
Endothelial cells
These cells may be damaged due to:
Blood flowing quickly under high pressure
The plaque consists of:
Fatty deposits
The presence of a plaque in the vessels supplying blood to the brain could result in:
A stroke
January 2012: Cardiovascular disease (CVD) is responsible for many deaths. One cause of
CVD is atherosclerosis. Describe how atherosclerosis develops.

Damage to endothelial cells/ epithelial cells / lining of artery


Ref to inflammatory response
Ref to migration of white blood cells into area
Build up of cholesterol
Reference to formation of atheroma / plaque
Reference to calcium salts / fibrous tissue
Ref to loss of elasticity of artery / narrowing of lumen
Idea that this process is selfperpetuating

Describe the factors that increase the risk of CVD (genetic,


diet, age, gender, high blood pressure, smoking and inactivity).
(12)
June 2010: Name two factors that increase the risk of CVD.

Genetic
Diet qualified
Increasing age
Being male
High blood pressure
Smoking,
Inactivity / lack of exercise

June 2011: Risk calculators can be used to estimate the probability that a person will
develop CVD. Many of these calculators start by asking for the age and gender of the
person using them. Explain why information about age and gender is important in
estimating the risk of developing CVD.

Age effect qualified e.g. older increases risk, arteries become less elastic / more easily damaged
/ blood pressure increases with increase in age

Gender effect qualified e.g. women less likely to develop CVD than men / oestrogen offers some
protection to women against CVD pre menopause.
January 2012: Give two factors, other than genetic factors, that increase the risk of
developing CVD.
More saturated fat / more cholesterol / more salt /obesity / more alcohol / more age / male / postmenopausal women / high blood pressure / smoking / diabetes / less activity / stress.
January 2013: State two factors, other than obesity, high blood pressure and high blood
cholesterol, that increase the risk of CVD.
Any two from:

Being male
Increase in age
Lack of exercise / inactivity
Smoking
Genetics
High alcohol consumption high salt diet
High saturated fat intake stress
Diabetes

Describe the benefits and risks of treatments for CVD


(antihypertensives, plant statins, anticoagulants and platelet
inhibitory drugs).(13)
January 2011: State the risks of using 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 / vomiting / dry mouth / breathing difficulties /

irregular heart rate / chest pain / hives / rash / dehydration / reduced circulation effects / low
potassium / blurred vision.
January 2012: Trials have shown that plant statin therapy is more effective in 719 Arg
carriers than in non-carriers of this allele. Describe the risks of using plant statins to treat
CVD.

Muscle inflammation / pain


Liver damage / failure
Joint aches / pains
Nausea / constipation / diarrhoea
Kidney damage / failure
Cataracts
Diabetes
Allergies / skin inflammation / skin rash
Respiratory problems / persistent cough
Headaches / dizziness / depression

June 2012: Give the name of the type of drug that is used to treat high blood pressure.
Antihypertensives / antihypertensive drug / beta blockers / diuretics / ACE inhibitors / calcium ion
channel blockers / vasodilators.
June 2012: Explain why many patients, who are over 80 and have high blood pressure, are
routinely prescribed with drugs such as antihypertensives.

High blood pressure can cause / increases risk of CVD / correctly named complication /
description

Idea that older people are more at risk of CVD

Analyse and interpret data on the possible significance for


health of blood cholesterol levels and levels of high-density
lipoproteins (HDLs) and low-density lipoproteins (LDLs).

Describe the evidence for a causal relationship between blood


cholesterol levels (total cholesterol and LDL cholesterol) and
CVD.(14)
June 2011: Explain how lowering blood cholesterol levels can reduce the risk of CVD.

Less cholesterol in blood to build up on artery wall


Less likely to develop atherosclerosis
Credit correct reference to subsequent consequence of atherosclerosis e.g. narrowing of
arteries, ischaemia, decrease in flow of blood to heart.

Discuss how people use scientific knowledge about the effects


of diet (including obesity indicators), exercise and smoking to
reduce their risk of coronary heart disease.(15)
June 2009: Suggest reasons for a change in the number of deaths from CHD.

People more aware of the dangers / better health education / appropriate named example
Less stress
Better / more screening
Better treatments
More exercise being taken
Changed diet / less obesity
Less alcohol intake
Decrease in smoking
Change in population genetics

January 2010: Cardiovascular disease (CVD) is responsible for many deaths.


Describe two changes that this woman may be able to make to her lifestyle, to reduce her
risk of dying from CVD. Explain how each change would reduce the risk.

Idea that the woman could reduce her energy intake weight / BMI decreases if her energy
expenditure greater than intake.

Diet should have reduced cholesterol levels cholesterol has been associated with high blood
pressure / atherosclerosis.

Diet should have reduced saturated fat reduces blood cholesterol / LDL
Idea that the woman could increase the amount of exercise she took weight decreases if energy
expenditure is greater than her intake / exercise helps maintain a healthy heart / reduces blood
pressure.

Idea that if the woman smoked she should reduce it smoking reduces oxygen uptake /
increases stickiness of platelets / increases blood pressure / increases risk of atheroma.

Idea that diet should have reduced salt high salt associated with high blood pressure.
Idea of moderate alcohol intake high alcohol associated with high blood pressure.
June 2011: Give three other ways apart from lowering blood cholesterol levels and lowering
blood pressure in which the risk of CVD may be reduced.

Decrease in smoking / not smoking


Reference to increase / regular exercise
Improvements to diet qualified,e.g. reduce salt, reduce saturated fat, increase fibre
Maintaining appropriate weight
Moderate / reduced alcohol consumption
Reducing stress
Use of medication e.g. statins, antihypertensives, warfarin

January 2013: Suggest two reasons for the overall decrease in high blood cholesterol as a
risk factor.

People more aware of the risks


people consuming foods with lower cholesterol levels / saturated fats
People consuming foods with more fibre in them
Use of statins
More screening
More exercise

Describe how to investigate the vitamin C content of food and


drink. (16)

June 2009: Describe how an investigation could be carried out to compare the effect of
storage time on the vitamin C content of the Paranastate camu-camu fruit with those from
the Amazon region.

Reference to DCPIP

Reference to procedure being repeated at (regular) time intervals e.g. everyday.

Reference to use of camu-camu juice


Idea of titrating juice with DCPIP
Correct reference to colour change e.g.from blue to colourless / pink.
Use of calibration curve to determine vitamin C concentration / comparison with standard vitamin
C
Reference to replication
Description of one controlled variable
Reference to drawing graph of both sets of results

June 2011: It has been suggested that cooking food in a microwave oven does not reduce
the nutrient content of foods by as much as cooking in boiling water. A student wanted to
test this idea on the vitamin C content of carrots. Describe an investigation that the student
could carry out to compare these two methods of cooking on the vitamin C content of
carrots.

Idea that some carrots need to be boiled in water and some cooked in microwave
Reference to control of appropriate variable
Reference to juice / cooking water being used
Reference to DCPIP
Reference to titration / description of titration of juice
Colour change of DCPIP e.g. from blue to colourless / pink as juice added / until stays blue as
DCPIP added

Reference to comparison of volumes of DCPIP added to each / use of calibration curve /


calculation of vitamin C concentration against known vitamin C solution

Reference to repeats

Analyse data on energy budgets and diet so as to be able to


discuss the consequences of energy imbalance, including
weight loss, weight gain, and development of obesity. (17)
June 2011: Suggest why exercise is usually included as part of a weight loss programme.

Idea that exercise uses energy


The longer / more intense the exercise, the more energy used / weight loss
Idea of mass / weight loss depends on energy input lower than energy output
Idea that exercise increases metabolism / muscles use more energy than fat

June 2012: Explain why a diet consisting of a high proportion of carbohydrates could lead
to obesity.

Idea of carbohydrates providing a source of energy


if the energy / carbohydrate input is greater than the energy output / carbohydrate use weight will
be gained

Idea of excess carbohydrate converted to fat

Analyse and interpret quantitative data on illness and mortality


rates to determine health risks (including distinguishing
between correlation and causation and recognising conflicting
evidence).(18)
June 2009: Distinguish between the terms causation and correlation:
Causation: when a change in one variable is responsible for a change in another variable.
Correlation: relationship between two variables such that a change in one of the variables is
reflected by a change in the other variable.
June 2010: It has been suggested that there is a correlation between the change in the
concentrations of fibrinogen in the blood and the increased risk of heart disease due to
cocaine use. Explain why this suggestion is valid.

Idea that a correlation is a relationship between two factors / when one factor changes another
factor changes.

Fibrinogen increases with cocaine use


Heart attacks increase with cocaine use
Idea that increased fibrinogen levels have not been shown to result in the increase in heart
disease.
January 2012: Explain the meaning of the term correlation:
A relationship between two variables is such that a change in one of the variables is reflected by a
change in the other variable.
January 2013: There is evidence for a causal relationship between blood cholesterol levels
and cardiovascular disease (CVD). Explain the meaning of the term causal relationship.
Idea that a change in one variable directly results in the change of another variable.

Evaluate design of studies used to determine health risk


factors (including sample selection and sample size used to
collect data that is both valid and reliable). (19)
June 2010: Suggest why it is necessary to have so many people involved in a study on CVD.

Idea that it makes the results/data/study representative / reliable


Idea that there are many potential risk factors / large variation between individuals.
Idea that side effects more likely to show up
June 2010: Suggest what the placebo could be in a study into CVD.

Saline
Water
Sugar tablet
Empty capsule

June 2010: Suggest why this study had to run for a number of years.

Idea that CVD is not an immediate disease


Side effects may take time to become apparent
Need to see if drug works over a long time

Explain why peoples perceptions of risks are often different


from the actual risks (including underestimating and
overestimating the risks due to diet and other lifestyle factors
in the development of heart disease).(20)

Topic 2:
Genes and
health

Explain how models such as the fluid mosaic model of cell


membranes are interpretations of data used to develop
scientific explanations of the structure and properties of cell
membranes.(2)
June 2010: Describe the structure of a phospholipid.

Phospholipids;
Phosphate head
Two fatty acid tails
Reference to location of glycerol
Correct reference to ester bonds

June 2010: Explain how the properties of a phospholipid contribute to the structure of the
cell membrane.

Reference to hydrophilic / polar / charged part


Reference to hydrophobic/ non-polar/ uncharged part
Reference to orientation of molecule in relation to water
Idea that aqueous environment is on two sides / cytoplasm and environment / tissue fluid

June 2010: Describe how the results of an investigation showing that proteins from two
different cells have intermingled in one cell after fusion can be explained by the fluid
mosaic model.

Idea that phospholipids / molecule A allow fluidity / movement


Idea that fluidity/movement/eq}allow membranes to fuse
Idea that fluidity / movement allows protein to move / intermingle

June 2012: The phospholipids form a bilayer because:


The hydrophobic tails move away from the aqueous environment
June 2012: The fluidity of the membrane is determined by the proportion of:
Cholesterol
January 2013: Molecules are transported across the cell membrane in a number of different
ways. Describe the structure of a cell membrane.

ALLOW a clearly labelled diagram


Phospholipid bilayer
Credit details of phospholipid bilayer e.g orientation because of hydrophobic and/or hydrophilic
regions e.g. phospholipids are fluid

Proteins
Credit details of proteins e.g. description of channel/carrier protein structure or position
intrinsic, extrinsic or transmembrane

Reference to other named membrane component e.g. glycolipid, cholesterol, glycoprotein,


carbohydrate chain, glycocalyx

Explain what is meant by osmosis in terms of the movement of


free water molecules through a partially permeable membrane
(3).
June 2009: Explain the meaning of the term osmosis.
Movement / diffusion / of water through a partially permeable membrane from a region with more
free water to a region with less free water / down water concentration gradient.

June 2011: A student wanted to sweeten some strawberries, so she sprinkled some sugar
on top of them, one hour before eating them. The student noticed that the sugar that she
had sprinkled on them was no longer visible and that there was some juice at the bottom of
the bowl. Using your knowledge of cell transport mechanisms and the properties of water,
explain how the juice is formed from the water that came from the fruit.

Correct reference to water gradient between sugar and strawberries


Reference to osmosis of water from inside of strawberry to outside
Idea that water is found i cytoplasm/ vacuoles of strawberry
Reference to water as a solvent for the sugar
Reference to (di)polar nature of water

Explain what is meant by passive transport (diffusion,


facilitated diffusion), active transport (including the role of
ATP), endocytosis and exocytosis and describe the

involvement of carrier and channel proteins in membrane


transport.(4)
January 2010: Give two differences between active transport and diffusion.

Active transport is against concentration gradient.


Active transport requires ATP energy.
Ref to involvement of membrane proteins in active transport
June 2010: Some proteins in the cell membrane are involved in active transport and
facilitated diffusion. Describe the role of proteins in these cell transport mechanisms.
Active transport:

Idea that molecule binds / fits into protein / carriers

Reference to proteins as channels/gates/ pores / carriers

Idea that protein/carrier changes shape


Molecules move against a concentration gradient

Reference to use of ATP / energy


Facilitated diffusion:
Idea that channels can open or close/ carriers change shape
For large / polar / charged molecules to pass through membrane
Molecules move down a concentration gradient

June 2011: Molecules are transported into and out of cells by several mechanisms.
Read through the following passage that describes some of these mechanisms, the the
most appropriate word or words have been added on the dotted lines to complete the
passage.
Some molecules move across a cell surface membrane by passing down a
concentration gradient, through the phospholipid bilayer. The movement of some polar molecules
across the membrane involves carrier and channel ............................protein.......................
molecules. When this movement occurs down a concentration gradient, the process is called
..facilitated diffusion ........................... and when it occurs against a concentration
gradient the process is called ..active transport................................. .
Energy in the form of ........................................ATP......................................... is used in the
movement of molecules against a concentration gradient
June 2012: Suggest how oxygen passes from the cell membrane into the centre of an
amoeba.

Reference to diffusion in the cytoplasm


Through the cytoplasm / description of part of cytoplasm
Down a concentration gradient in the cytoplasm

Describe how membrane structure can be investigated


practically, eg by the effect of alcohol concentration or
temperature on membrane permeability.(5)
January 2011: The size and solubility of molecules has an effect on their ability to be taken
up by cells. Describe an experiment you have carried out to investigate the permeability of
cell membranes.

Appropriate tissue named e.g. beetroot


Reference to washing / soaking beetroot thoroughly
Reference to water bath to maintain / change temperature
Reference to range at least 5 temperatures / alcohol concentrations
Appropriate controlled variable named e.g. length of time, size of beetroot
Indication of what is being used to judge permeability colour of solution, absorbance,
transmission.

Description of how permeability can be assessed e.g. use of colorimeter, standard solutions.
Reference to repeats / replicate.
June 2010: Explain why it is necessary to measure the initial rate of reaction when
investigating the effect of enzyme concentration on the rate of reaction.

Idea that there should be enough substrate molecules to saturate the enzyme
To ensure that substrate is not a limiting factor
Fastest / highest rate / decreases after initial rate
As reaction proceeds substrate concentration decreases
As substrate gets used up by enzyme / in reaction
Substrate concentration should be constant in each test

June 2010: In this investigation, the substrate concentration was a factor that was kept
constant. Suggest two other factors that should be kept constant. For each factor, state how
it can be kept constant.

pH buffer
Temperature water bath (not room temperature)
Time of reaction stopwatch
Volume of enzyme / substrate (not amount) measuring cylinder / pipette
Type of enzyme same batch of enzym

June 2012: The action of lipase (enzyme) can be investigated using a triglyceride as the
substrate. Describe an experiment, using lipase and a triglyceride, that could be carried out
to collect data to plot a graph.

Reference to use of a range of substrate (triglyceride) concentrations


Idea of mixing enzyme and substrate
Identification of a suitable dependent variable e.g. pH
Description of how to measure the dependent variable e.g. use of pH indicator
Reference to measuring time
Description of how to calculate initial rate of reaction ;
Idea of repeating experiment without the enzyme
Idea of control of enzyme lipase concentration
Reference to one other named controlled variable e.g. temperature, type of triglyceride, volume
of solutions

Reference to replicates / repeats using the same triglyceride concentration

Describe the properties of gas exchange surfaces in living


organisms (large surface area to volume ratio, thickness of
surface, difference in concentration) and explain how the
structure of the mammalian lung is adapted for rapid gaseous
exchange.(6)
January 2012: An amoeba is a single-celled organism that lives in water. Gas exchange in
an amoeba occurs between the water and the cytoplasm. Using the your own knowledge,
suggest how gas exchange occurs in organisms like an amoeba.

Gas exchange occurs through the cell membrane / phospholipid bilayer


Idea that the membrane is thin
Oxygen enters cell from water
Carbon dioxide leaves cell into water
O2 / oxygen / CO2 / carbon dioxide are small / non-polar molecules
Reference to diffusion
Reference to / description of suitable concentration gradient
Reference to large surface area to volume ratio

Describe the basic structure of an amino acid (structures of


specific amino acids are not required) and the formation of
polypeptides and proteins (as amino acid monomers linked by
peptide bonds in condensation reactions) and explain the
significance of a proteins primary structure in determining its
three-dimensional structure and properties (globular
and fibrous proteins and types of bonds involved in threedimensional structure). (7)
January 2011: An enzyme is a protein and has a primary structure. Explain the meaning of
the term primary structure.

The sequence / order of amino acids


Joined by peptide bond

January 2011: Using your knowledge of enzymes, explain the importance of the primary
structure of an enzyme to its function.

Idea that primary structure determines three-dimensional folding


Reference to types of amino acids determine types of bonds / (other than peptide bonds) /
named bond.

Reference to position of amino acids determines position of bonds / correctly named bond
Correct reference to two cys (aminoacids) form bonds
Idea that shape / position / of active site is determined by position of amino acids
Reference to shape of active site being correct to bind to substrate
Reference to amino acids / R groups involved in chemical reaction
Reference to globular / soluble / enzyme molecules being relatively short / small / made up of
relatively few amino acids.

Reference to globular / soluble proteins / enzyme having relatively high number of polar / small
amino acids / R groups.

Reference to polar R groups facing outwards


June 2011: The sequence of amino acids in a polypeptide chain is determined by the
sequence of bases in DNA. This sequence of bases is used as a template to synthesise
messenger RNA (mRNA). Describe the structure of an amino acid.

Presence of amine group


Presence of carboxyl group
Reference to R group
Reference to central carbon atom
Award marks on correctly drawn diagram

January 2012: Proteins, such as enzymes, are important molecules found in all living
organisms. Read through the following passage on the primary structure of proteins, where
the most appropriate word or words have been written on the dotted lines to complete the
passage.
Proteins are made of monomers called amino acids............... . These monomers are
joined together by .peptide .......................... bonds, formed during
.condensation (polymerisation) reactions. Each monomer of a protein consists of a
central carbon atom attached to a hydrogen atom, an R group, an ............amine......... group and
a ..carboxyl (carboxylic acid). group. The sequence of monomers
determines the primary structure of the protein.
January 2013: Lipoproteins are composed of phospholipids, cholesterol and proteins. (i)
Proteins are made up of amino acids. Describe how amino acids join together to form the
three-dimensional structure of a protein.

Reference to peptide bonds joining amino acids


Between amino group of one amino acid and carboxyl group of another
The sequence of amino acids is the primary structure of the protein.
Reference to folding of primary structure held together by bonds (ALLOW ref to alpha helix or
beta pleated sheet)

Disulfide bridges / hydrogen / H bonds / ionic bonds / Van der Waals forces ;
Between the R groups

Explain the mechanism of action and specificity of enzymes in


terms of their three-dimensional structure and explain that
enzymes are biological catalysts that reduce activation energy,
catalysing a wide range of intracellular and extracellular
reactions. (8)
June 2009: Explain why melanin cannot be produced in the absence of the enzyme
tyrosinase.

Idea that dihydroxyphenyalanine cannot be synthesised from tyrosine if tyrosinase is absent.


Idea that precursor of melanin is dihydroxyphenylalanine / melanin only made if DHPA present.
Enzymes are (substrate) specific therefore no other enzyme will breakdown tyrosine / tyrosine
does not breakdown on its own.
January 2010: Describe the structure of an enzyme.

Ref to an enzyme as a protein


Ref to 3D/ tertiary / globular structure
Ref to named bonds holding structure in place
Between the R groups
Ref to active site
Idea of specificity of active site

June 2010: The three-dimensional structure of a protein is held together by:


Disulphide bridges, hydrogen and ionic bonds
June 2010: Enzymes are biological catalysts that change the activation energy of chemical
reactions. Explain the meaning of the terms biological catalyst and activation energy.

Reference to enzymes / biological catalysts reducing activation energy.


Biological catalyst:

Produced by organisms / cells


Speeds up rate of reactions / processes
Activation energy:

Energy needed for a reaction to occur


By causing bonds to break / weaken / form by increasing the number of collisions
January 2012: Describe the three-dimensional (tertiary) structure of an enzyme.

Globular
Reference to active site
Reference to specific shape of active site

Reference to bonds / named bond / interaction between R groups


Credit correctly named bond / interaction e.g. disulphide bond/bridges, hydrogen bonds,
hydrophobic interactions between R groups.

January 2012: Explain how the primary structure of an enzyme determines its threedimensional (tertiary) structure and its properties.

Primary structure position / sequence / order of the amino acids / R groups


Idea that this determines the positioning / type of the bonds / folding
Determining the shape / properties of the active site
Idea of interaction of active sites and substrates e.g. enzyme substrate complex forms
Idea of polar / hydrophilic on the outside of enzymes / non polar / hydrophobic}on the inside
Reference to solubility

Describe how enzyme concentrations can affect the rates of


reactions and how this can be investigated practically by
measuring the initial rate of reaction. (9)
June 2010: Explain why it is necessary to measure the initial rate of reaction when
investigating the effect of enzyme concentration on the rate of reaction.

Idea that there should be enough substrate molecules to saturate the enzyme
To ensure that substrate is not a limiting factor
Fastest / highest rate / decreases after initial rate
As reaction proceeds substrate concentration decreases
As substrate gets used up by enzyme / in reaction
Substrate concentration should be constant in each test

June 2010: In this investigation, the substrate concentration was a factor that was kept
constant. Suggest two other factors that should be kept constant. For each factor, state how
it can be kept constant.

pH buffer
Temperature water bath (not room temperature)
Time of reaction stopwatch
Volume of enzyme / substrate (not amount) measuring cylinder / pipette
Type of enzyme same batch of enzyme

January 2012: Describe how an inverted measuring cylinder under water could be used to
compare enzyme activity in two different types of mussel.

Reference to measuring volume of oxygen


Suitable reference to time e.g. oxygen produced in unit time, time taken to produce same volume
of oxygen

Idea of measuring the initial rate of reaction


Reference to controlled variable in relation to the mussel e.g. age, part of mussel, mass, surface
area

Reference to a controlled variable in relation to the experiment e.g. volume of hydrogen


peroxide, temperature, concentration, pH

Suitable reference to repeats

Describe the basic structure of mononucleotides (as a


deoxyribose or ribose linked to a phosphate and a base,
ie thymine, uracil, cytosine, adenine or guanine) and the
structures of DNA and RNA (as polynucleotides composed of
mononucleotides linked through condensation reactions) and
describe how complementary base pairing and the hydrogen
bonding between two complementary strands are involved in
the formation of the DNA double helix.(10)
June 2009: In the space below, draw a diagram to show two mononucleotides joined
together in a single strand of DNA (polynucleotide):

June 2009: Name an enzyme involved in DNA replication:


DNA polymerase / ( DNA) ligase / (DNA) helicase.
June 2010: DNA consists of mononucleotides joined together by bonds between:
One deoxyribose sugar and one phosphate group
January 2010: Read through the following passage on the structure of DNA, the most
appropriate word or words have been added on the dotted lines to complete the passage
A DNA molecule consists of two strands of mononucleotides. Each of these strands is twisted
around the other, forming a .double helix......................... .
Each mononucleotide consists of a pentose sugar called
.........................................deoxyribose................................. , a base and a
.phosphate group................................................. . In each strand, the
mononucleotides are held together by phosphodieter.......................... bonds.
The two strands are held together by complementary base pairing. Adenine bonds
with ..............................thymine............................................ and cytosine bonds
with .............................guanine............................................. .

The name of the bond that forms between these bases is a


...................................hydrogen....................................... bond. A DNA molecule that is composed
of 34% adenine will be composed of ..16%................................................... %
cytosine.
June 2012: DNA and RNA are polynucleotides composed of mononucleotides joined by:
Condensation reactions
June 2012: The mononucleotides of RNA consist of a phosphate joined to the sugar
Ribose
June 2012: The mononucleotides in mRNA are joined together by
Phosphodiester bonds
June 2012: The bases in RNA are:
Adenine, cytosine, guanine and uracil
June 2012: DNA is a double stranded molecule twisted into:
A double helix
June 2012: The two DNA strands are held together by:
Hydrogen bonds

Describe DNA replication (including the role of DNA


polymerase), and explain how Meselson and Stahls classic
experiment provided new data that supported the accepted
theory of replication of DNA and refuted competing theories.
(11)
January 2011: Describe the roles of messenger RNA (mRNA) and transfer RNA (tRNA) in
protein synthesis.
mRNA:

Reference to mRNA as a copy of the genetic code / DNA

Correct reference to translation

Of the protein being synthesised


Moves out of the nucleus / to ribosomes

Idea that it acts as a template / has the instructions for translation


tRNA:
Binds to an amino acid / takes the amino acid to the ribosome / mRNA
Reference to tRNA being specific to amino acid
Holds the amino acid in place\

June 2011: In the late 1950s, Meselson and Stahl performed some important experiments.
These experiments provided evidence to support the idea that new DNA was synthesised by
semi-conservative replication. Name an enzyme involved in DNA replication.

DNA polymerase

DNA helicase
DNA ligase
June 2012: Describe the role of each mRNA and tRNA in protein synthesis.
mRNA:

Idea of mRNA being a copy of the antisense DNA strand / template DNA strand / coding DNA
strand / gene / allele / part of DNA

Idea that mRNA made up of codons / codes for specific amino acids / code for amino acid
sequence

Idea of mRNA being taken into the cytoplasm / to the ribosomes / out of the nucleus
Used in translation
Binds to ribosome
tRNA:

tRNA attaches to / transports specific amino acid


Idea that tRNA binds to mRNA / reference to anticodon codon interaction
Idea that two tRNA bring amino acids together for peptide bonds to be formed
January 2013: Messenger RNA (mRNA) and transfer RNA (tRNA) are important nucleic
acids involved in the process of protein synthesis. Describe how a molecule of mRNA is
made during transcription.

Idea that DNA molecule unwinds / unzips / uncoils / DNA strands separate
Free RNA mono nucleotides line up against / attach to one strand / template / antisense strand
Ref to complementary base pairing between DNA and mononucleotides
Ref to formation of phosphodiester bonds
Ref to condensation reaction
Correct name of enzyme involved
Idea that mRNA detaches from the DNA

January 2013: Describe two ways in which the structure of a tRNA molecule differs from the
structure of a mRNA molecule.

tRNA is folded and mRNA is straight / unfolded


tRNA has hydrogen bonds holding the structure together but the mRNA does not
tRNA is a fixed size / length but mRNA is not / length depends on size of gene
tRNA has an anticodon but mRNA has codons
tRNA has an amino acid binding site

Explain the nature of the genetic code (12).

Describe a gene as being a sequence of bases on a DNA


molecule coding for a sequence of amino acids in a
polypeptide chain. (13)

Outline the process of protein synthesis, including the role of


transcription, translation, messenger RNA, transfer RNA and
the template (antisense) DNA strand (details of the mechanism
of protein synthesis on ribosomes are not required at AS). (14)
January 2010: Read through the following passage on protein synthesis, on the dotted lines
the most appropriate word or words have been added to complete the passage.
Protein synthesis involves two stages. The first stage is ..................transcription................ and
takes place in the nucleus of the cell. During this stage, a molecule called
...........................mRNA............................ is made using the antisense DNA strand as a template.
The second stage, known as .............................translation............... , takes place in the cytoplasm
of the cell on structures called ..................................ribosomes........................ . During this stage,
.tRNA......................... molecules enable the amino acids attached to them to line up
in the correct order. The amino acids are joined together by the formation of
................................peptide.................... bonds.
June 2011: The sequence of amino acids in a polypeptide chain is determined by the
sequence of bases in DNA. This sequence of bases is used as a template to synthesise
messenger RNA (mRNA). Describe how mRNA is synthesised.

Correct reference to transcription


DNA unwinds / strands separate
RNA mononucleotides line up against / attach to one DNA strand / template
Reference to complementary base pairing between DNA and mono nucleotides
Reference to mononucleotides joining together / formation of phosphodiester bonds
Correct reference to condensation reaction
Correct reference to named enzymes involved
mRNA detaches from DNA

Explain how errors in DNA replication can give rise to


mutations and explain how cystic fibrosis results from one of a
number of possible gene mutations. (15)
January 2011: Thalassaemia is the name of a group of inherited blood disorders that affect
the bodys ability to produce haemoglobin in red blood cells. Red blood cells are produced
in bone marrow. Oxygen in the lungs binds to haemoglobin and is carried to the cells of the
body to be used in respiration.Beta thalassaemia is the result of a mutation in the gene
coding for the chain of haemoglobin. If a person inherits gene mutations from both

parents, this person will show symptoms of anaemia and will require blood transfusions.
Symptoms of anaemia include tiredness and breathlessness. Using the information given
above and your knowledge of gene mutation, suggest why a person with beta thalassaemia
has symptoms of anaemia.

Idea of mutation / named mutation causing different base sequence


Reference to different sequence of amino acids / primary structure.
Reference to chain / haemoglobin / protein / polypeptide being the wrong shape.
Haemoglobin no longer binds oxygen / binds less oxygen.
Less / no oxygen supplied / carried to the cells.
Correct reference to respiration.
Idea of breathlessness due to body trying to take in more oxygen.
Idea of tiredness due to lack of energy

Explain the terms gene, allele, genotype, phenotype, recessive,


dominant, homozygote and heterozygote, and explain
monohybrid inheritance, including the interpretation of genetic
pedigree diagrams, in the context of traits such as cystic
fibrosis, albinism, thalassaemia, garden pea height and seed
morphology.(16)
June 2009: Distinguish between the terms allele and gene.
An allele is the different form/versions of a gene.
A gene is a section of DNA / sequence of bases that codes for a polypeptide / occupies a particular
locus on a chromosome.
June 2009: Explain the meaning of the term recessive allele.
A recessive allele is an allele that is only expressed (in the phenotype of an organism) if the
dominant allele is not present.
June 2009: Explain the meaning of the term homozygous.
Homozygous is alleles of a particular gene that are the same.
June 2009: Suggest why the incidence of albinism in squirrels is lower than the incidence in
humans, giving a reason for your answer.

Idea that fewer albino squirrels survive/ squirrels may not breed so frequently.
A suitable reason given (e.g.more predation, less camouflage)
Idea of frequency of albinism allele in squirrel (population) is lower / chances of two squirrels
with the allele less likely to mate.

Comment on the lower mutation rate(in squirrels).


January 2010: Using your knowledge of monohybrid crosses, 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.

Heterozygous genotype of both parents shown or stated


Possible alleles carried in the gametes shown (can be shown in a Punnet square)
Possible genotypes of offspring clearly shown (can be shown in a Punnet square)
Corresponding phenotypes given
Probability of having child with cystic fibrosis's 25% / 1in4 / 14 / 0.25

June 2011: An allele is a:


Form of a gene

January 2012: Explain the meaning of the term genotype:


The alleles present in an organism
January 2012: Explain the meaning of the term allele:
A different form of one gene
June 2012: Explain the meaning of each of these terms: mutation and recessive.
Mutation:

Reference to alteration in DNA


Change in base sequence / quantity of DNA
Recessive:

Idea that both of these alleles need to be present in order for the recessive phenotype to be
expressed

January 2013: Cystic fibrosis and albinism are examples of recessive genetic disorders.
Tay-Sachs disease is another example of a recessive genetic disorder. Explain the meaning
of the term recessive genetic disorder.
Recessive genetic disorder:

The disorder results from a defect in genes (ALLOW faulty allele)


Both defective alleles need to be present / homozygous / not expressed in the presence of a
dominant allele

Explain how the expression of a gene mutation in people with


cystic fibrosis impairs the functioning of the gaseous
exchange, digestive and reproductive systems.(17)
June 2010: Cystic fibrosis is a genetic disease that can affect many body systems,
including the respiratory system. Explain how a gene mutation causes a build up of mucus
in the respiratory system of a person with cystic fibrosis.

Reference to CFTR protein / channel


Reference to a different amino acid / sequence of amino acids on the defective CFTR protein

Reference to change in protein


Reference to role of protein in transporting chloride ions
Reference to chloride ions not moving out of cells / going into mucus.
Reference to sodium ions moving in to the cells / mucus
Water does not move out of cells / water moves in to cells
By osmosis
Mucus on cell surface is not diluted/ becomes thicker / becomes stickier
Thickened mucus cannot be moved by cilia / coughing

June 2010: Suggest why people with cystic fibrosis are more likely to suffer from lung
infections than people without cystic fibrosis.

Idea that mucus traps bacteria / pathogens


Idea that bacteria / mucus containing the bacteria cannot be removed by cilia
Idea that mucus provides conditions for bacteria to live / grow / develop
Reference to antibodies not being effective
Reference to trauma caused by coughing
Idea that resident phagocytes/ macrophages cannot destroy bacteria

June 2011: Cystic fibrosis is a genetic disease that can affect many body systems,
including the digestive system. In a carrier of this disorder, preimplantation genetic
diagnosis can be used to detect the presence of an allele for cystic fibrosis. Explain how
cystic fibrosis affects the digestive system.

Reference to CFTR gene / channel not functioning properly


Reference to thicker / stickier mucus
Mucus blocks pancreatic duct(s)
In the pancreas
Idea that enzymes cannot be secreted
Into / reach small intestine
Idea of reduced digestion of food / named food
Reference to reduced absorption
Idea of malnutrition / weight loss
Idea of self-digestion of pancreatic cells / problems controlling blood sugar levels / cysts / fibroids

June 2012: Cystic fibrosis and albinism are examples of recessive genetic disorders.
Krabbe disease is another example of a recessive genetic disorder.
Krabbe disease is caused by mutations in the GALC gene, resulting in a deficiency of an
enzyme called galactocerebrosidase. Suggest how a mutation in the GALC gene could
result in a change in the enzyme galactocerebrosidase.

Idea of a gene being a sequence of bases that code for the sequence of amino acids in the

protein / polypeptide chain / enzyme / galactocerebrosidase


Gene mutation will alter DNA triplet / DNA code / codon
This may result in a different amino acid / stop codon / amino acid sequence / primary structure
Idea that this may change the shape of protein / enzyme
Therefore causing no synthesis / incomplete of enzyme / galactocerebrosidase / change of
active site

Describe the principles of gene therapy and distinguish


between somatic and germ line therapy.(18)
June 2010: Cancer can cause a lot of pain. Pain can be reduced by a chemical called
endorphin that is made by cells in the brain and spinal cord. Endorphin reduces the activity
of neurones that carry impulses from pain receptors.
Gene therapy has been used in rats to increase the tolerance to pain.
Viruses, containing a gene coding for endorphin, were developed. These viruses were
injected into the spinal cords of a group of rats. The level of tolerance to pain was tested in
these rats and in the rats in a control group. Describe the role of the viruses in this
investigation.

Reference to virus acting as a vector


Idea that virus is used to get the (usually functioning) gene/DNA into the cells
Suggest why the injection was made into the spinal cord.

Reference to neurones in spinal cord


Endorphins being made in spinal cord
spinal cord connects to brain

Suggest why a gene coding for an endorphin was used in this investigation.

Idea that endorphins have pain-reducing properties


More endorphins
Endorphin secreting cells produced
January 2011: Thalassaemia is the name of a group of inherited blood disorders that affect
the bodys ability to produce haemoglobin in red blood cells. Red blood cells are produced
in bone marrow.Oxygen in the lungs binds to haemoglobin and is carried to the cells of the
body to be used in respiration. Beta thalassaemia is the result of a mutation in the gene
coding for the chain of haemoglobin. If a person inherits gene mutations from both
parents, this person will show symptoms of anaemia and will require blood transfusions.
Symptoms of anaemia include tiredness and breathlessness.Gene therapy could potentially
be used to treat beta thalassaemia.
Suggest how gene therapy could be carried out to treat this disorder.

Reference to use of normal / correct allele / gene


For haemoglobin / chain
Reference to introduction of gene / allele / DNA into cells.
Cells named as bone marrow

Reference to use of vector to introduce gene into cells


Named vector e.g.virus,liposome.
Credit reference to appropriate mode of delivery of vector e.g. injection into (bone) marrow.
Reference to need for repeated treatment.

January 2012: Gene therapy has the potential to treat some genetic disorders. Explain why
gene therapy has the potential to treat some genetic disorders.

Reference to faulty alleles / genes / DNA


Idea that gene therapy uses normal / functioning / healthy alleles / genes
So the normal protein / gene product / RNA is produced by the cells

January 2012: Suggest how patients with cystic fibrosis could be treated using gene
therapy.

Reference to using alleles / genes coding for the CFTR protein / channel
Reference to introducing the alleles / genes into the cells
Of the lungs / pancreas / reproductive tracts
That produce mucus
Using a vector / named vector
Credit suitable delivery mechanism e.g. nebuliser, injection
Idea that treatment needs to be repeated due to cell replacement

January 2013: 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. Suggest how these gene therapy
investigations could have been carried out.

Isolation / identification of normal gene


Inserted into vector / stem cells
Vector named as liposome / virus
Injection of vector / modified stem cells} into {blood / brain / target cells
Ref to use of control injection
Further detail of control injection e.g. use empty liposome / virus without gene inserted
Progression of disease monitored
Life spans recorded
Reference to appropriate
Comparison with control e.g. untreated sheep
Idea that treatment needs to be repeated
Idea of replication of investigation

Explain the uses of genetic screening: identification of


carriers, preimplantation genetic diagnosis and prenatal
testing (amniocentesis and chorionic villus sampling) and
discuss the implications of prenatal genetic screening.(19)
June 2009: Name one method of prenatal testing and explain how it can be used to detect
cystic fibrosis:
Amniocentesis:

amniotic fluid removed from amniotic sac of mother.

placental tissue removed from womb of mother

Fetal /embryonic cells present in amniotic fluid /fetal / embryonic cells needed
DNA can be analysed

To detect defective gene(s) in sample


OR
Chorionic villus sampling:
fetal cells present in placenta/placental tissue / chorionic tissue /
fetal cells needed DNA can be analysed
to detect defective gene(s) in sample

June 2009: Describe one benefit and one risk, to a pregnant woman, of prenatal testing:
Benefit:

Gives information about abnormalities (in fetus).


Opportunity for choice consider termination / time for preparation / treatment / peace of mind
Risk:

Possibility of miscarriage due to procedure.


Potentially a healthy baby would be lost risk to mother
OR

Idea of false positive / false negative result


Wrong decision made / description of wrong decision
OR

Damage / harm to fetus


Subsequent health issues / miscarriages

January 2010: Cystic fibrosis is a life-threatening condition that can affect many different
parts of the body. It is a recessive genetic trait. Genetic screening can be used to test for
the presence of recessive alleles. A person found to possess a recessive allele is called a
carrier. Suggest why cells from mouth swabs or blood samples are used rather than
gametes.

Idea that at these cells are easy/painless to collect


Idea that a relatively large amount of DNA / large number of cells can be collected
They contain diploid cells / have 23 pairs of chromosomes
Cells are genetically identical / have same DNA / have same alleles
Any recessive allele / mutated CF gene will be present in them
Idea that if the gametes were tested they may not contain the recessive allele / mutated CF gene
as they are haploid

January 2010: 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
Idea that testing for only one will miss other recessive alleles

January 2010: 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.

Ref to false negatives


Idea that the screening programme does not test for all the possible mutations that can cause
cystic fibrosis

Idea that a mutation may occur in the formation of the gametes


Idea of mutation in both gametes
Idea that a mutation may occur after fertilisation
January 2010: If one of the partners is found to be a carrier then screening for cystic
fibrosis may be offered to other family members. Explain why this screening is offered to
other family members.

Idea that any other family member could be a carrier


Idea that in formed choices can be made about having children if they know that they are
carriers

June 2011: Explain how preimplantation genetic diagnosis is performed to detect cystic
fibrosis.

Reference to IVF / description of preimplantation


Embryo DNA analysed
Presence of CFTR gene mutation / faulty allele tested for

January 2012: Name one method of prenatal genetic screening:

Amniocentesis
Chorionic villus sampling

Identify and discuss the social and ethical issues related to


genetic screening from a range of ethical viewpoints.(20)
June 2009: Discuss either one ethical issue or one social issue relating to the use of
prenatal testing:

Idea that a fetus is living

Abortion is wrong / murder


Who has right to decide if tests should be performed
Implications of medical costs / disagreements over next step
Issues relating to confidentiality of parents/ child
Idea that some other abnormality may be found / paternal DNA does not match / other family
members have right to know results

Some other abnormality may be found


Comment on possible problems with future employment / insurance / what constitutes a serious
condition

Not fully understanding possible risks of prenatal testing


Possibility of miscarriage/harm to child
Who has the right to make the decision for the fetus / fetus has decision rights if the test is
positive

Denying them the opportunity to live / fetus should be allowed to live / fetus has a right to live
June 2011: Discuss either one ethical issue or one social issue relating to the use of
preimplantation genetic diagnosis.
Any of the following paired points:

Who has right to decide if tests should be performed


Implications of medical costs / disagreements over next step / embryo has rights
OR

Issues relating to confidentiality of parents / child


Idea that some other abnormality may be found / paternal DNA does not match / other family
members have right to know results.
OR

Idea some other abnormality may be found/ false negative


Comment on possible problems with e.g. future employment / insurance / what constitutes a
serious condition.
OR

Idea that embryo could be damaged / destroyed / discarded / false positive


Embryo is a potential life / has rights / destroying embryo is wrong / unethical / murder
January 2012: Discuss either one ethical issue or one social issue relating to the use of
either amniocentesis or chronic villus sampling of prenatal genetic screening.

Idea of right to life


Abortion is murder / ref to risk of miscarriage
Or:

False positive / negative


Consequences of false result e.g. abortion of
healthy fetus

Or:

Who has right to decide if tests should be performed


Implications of medical costs / discrepancies over next step} / parents have a right to know / can
prepare
Or:

Issues relating to confidentiality of parents / child


Idea that some other abnormality may be found / paternal DNA does NOT match / other family
members have right to know results
Or:

If abnormality found
Consequence of abnormality found e.g. abortion, comment on possible problems with future
employment / insurance / what constitutes a serious condition
Or:

Damage to fetus / risk of miscarriage


loss of fetus / risk to mother
Or:

Ref. to stress to parents


Consequences of stress e.g. increased risk of miscarriage