Unit 1 Revision notes

These notes do not cover absolutely everything, but they do cover those major topics and the wording you seem to have the greatest difficulty with. Check the Specification and the Topic summaries

Topic 1 summary Make sure your notes cover the following points. The points are listed in the approximate order they appear within the topic. All the points are covered in the textbook but where there is supporting information within the activities this is indicated. There are suggestions on making notes and on revision in the Exam/coursework support. You should be able to:
o Explain why many animals have a heart and circulation (mass transport to overcome limitations of diffusion in meeting the requirements of organisms). (Checkpoint question 1.1) (Activity 1.2) o Explain the importance of water as a solvent in transport, including its dipole nature. (Activity 1.5) o Explain how the structures of blood vessels (capillaries, arteries and veins) relate to their functions. (Checkpoint question 1.2) (Activity 1.6 ) o Describe the cardiac cycle (atrial systole, ventricular systole and diastole). (Checkpoint question 1.3) (Activity 1.7) o Relate the structure and operation of the mammalian heart to its function, including the major blood vessels. (Activities 1.3 and 1.4) o Explain the course of events that leads to atherosclerosis (endothelial damage, inflammatory response, plaque formation, raised blood pressure). (Activity 1.8) o Describe the blood clotting process (thromboplastin release, conversion of prothrombin to thrombin and fibrinogen to fibrin) and its role in cardiovascular disease (CVD). (Activity 1.8) o Analyse and interpret quantitative data on illness and mortality rates to determine health risks (including distinguishing between correlation and causation and recognising conflicting evidence). (Activity 1.9) o 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). (Checkpoint question 1.4) (Activity 1.9) o 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). (Checkpoint question 1.5) (Activity 1.10) o Describe the factors that increase the risk of CVD (genetic, diet, age, gender, high blood pressure, smoking and inactivity). (Checkpoint question 1.6) (Age and gender Activity 1.11. Genetic inheritance Activity 1.19. Blood pressure Activities 1.12, 1.13 and 1.22. Diet (Activities 1.17 and 1.20) o Distinguish between monosaccharides, disaccharides and polysaccharides (glycogen and starch amylose and amylopectin) and relate their structures to their roles in providing and storing energy (-glucose and cellulose are not required in this topic). (Activities 1.14) o 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. (Activities 1.14 and 1.15) o 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. (Activity 1.16) o 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. (Activity 1.17)

o 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). (Activity 1.18) o Describe the evidence for a causal relationship between blood cholesterol levels (total cholesterol and LDL cholesterol) and CVD. (Activity 1.18) o Describe how to investigate the vitamin C content of food and drink. (Activity 1.21) o 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. (Activity 1.23) o 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.(Obesity indicators Activities 1.17 and 1.25 ) o Describe the benefits and risks of treatments for CVD (antihypertensives, plant statins, anticoagulants and platelet inhibitory drugs).

Topic 1Revision Notes Why many animals have a heart and circulation. Small organisms such as flatworms do not need a circulatory system because: they have a large surface area to volume ratio so sufficient oxygen can diffuse in across the entire surface they are thin enough and small enough for sufficient materials to diffuse fast enough to and from every cell In large organisms, with larger bodies, diffusion is too slow to move materials oxygen, food etc. - throughout the body fast enough and in sufficient quantities to support high metabolic rates. they have a mass flow transport system; fluid, i.e. blood made to move around body blood made to move by pressure generated by heart in vertebrates blood retained in blood vessels = closed system. blood vessels + heart = circulatory system This allows generation of higher pressure so blood travels faster increases efficiency of delivery of materials. The properties of water and why it is important to living organisms Water molecules are polar i.e. the hydrogen end of the molecule is slightly positive/the oxygen end is slightly negative Water molecules are held together by the positive ends of one molecule being attracted to the negative ends of surrounding molecules: These are hydrogen bonds which effectively hold water molecules together
Properties of water Liquid at normal environmental temps High specific heat capacity Significance Liquid medium for living organisms A lot of energy is needed to change temperature so aquatic environments change temp slowly so are relatively stable environments So too do large organisms which helps the maintenance of a relatively stable body temperature Requires a lot of energy to make water evaporate Evaporation of water in sweat or from cell walls of leaves (in transpiration) causes cooling Water molecules slide over each other readily, so water flows easily, e.g. in blood vessels and aquatic organisms can move through it easily without expending too much energy When put under pressure water will flow important in the heart and circulatory system Light can pass through water Many substances can dissolve in water so water is an important medium for chemical reactions which occur on solution e.g. respiration transporting substances in solution e.g. glucose in blood plasma

High latent heat of vaporisation (energy needed to break the hydrogen bonds)

Low viscosity

Incompressible Water is colourless and transparent Excellent solvent

Water is a reactant

Important for hydrolysis e.g. breakdown of glycogen to glucose Photosynthesis water is a source of electrons and hydrogen atoms

Structure of blood vessels Artery.

Outer layer of connective tissue with fibres of collagen (a strong fibrous protein) makes the outer wall tough to prevent over-stretching and to protect against the pressure exerted by other organs rubbing against it. Thick walls containing lots of elastic fibres (made from a protein called elastin) and smooth muscle cells. Elastic fibres allow walls to stretch when blood pumped at high speed and high pressure into arteries by contraction of ventricles; elastic recoil when the pressure drops as the ventricles relax pushes the blood forward to maintain the flow and the pressure (so blood flows in pulses) The smooth muscles contract to control how far the artery stretches and so controls the diameter of the artery, which also maintains the pressure. (NB. The muscles do not contract to pump the blood in the arteries!)

The narrow lumen helps maintain the blood at higher pressure. But friction slows down the flow which reduces the pressure and reduces the pulses No valves because forward blood flow is maintained by the heart and elastic recoil of the arteries (except at beginning of aorta and pulmonary vein)
Vein Outer layer of connective tissue with fibres of collagen (a strong fibrous protein) makes the outer wall tough to prevent over stretching and to protect against the pressure exerted by other organs rubbing against it. Thin walls with few elastic fibres and smooth muscle. Blood flows slowly under low pressure; there is no pulse so the walls do not need to stretch and recoil. Wide lumen carries a large volume of blood

Has pocket valves that prevent the backflow of blood. Blood in the vein is pushed forward by the increase in pressure produced by the contraction of the nearby skeletal muscles which the vein run through.

When the muscles relax and stop pressing the pressure drops and the valves prevent the blood flowing backwards.

Capillaries
Very narrow Lie close to all cells in the body Capillaries m from one, in

Extremely large numbers of branching capillaries so on cell > 10 But large volume of capillary system causes a massive reduction blood pressure

Capillary endothelial cell

Red blood cell

Capillary wall is one cell thick

Very small lumen

Narrow diameter slows down blood flow so pressure drops to allow time for exchange between blood and surrounding cells t place more efficiently Thin walls only one cell thick to ensure maximum rate of transfer between blood and surrounding tissue fluid

o take

Heart Structure. Significant wording The wall of the left ventricle is much thicker than the wall of the right ventricle because there is much more muscle since the left ventricle has to generate sufficient pressure to pump the blood into the arteries. Whereas the right ventricle only has to generate enough pressure to pump the blood to the lungs The Cardiac Cycle The sequence of events that makes up a heart beat; involves a regular cycle of contraction and relaxation of the heart muscles

Atrial and ventricular diastole The atrial and ventricle muscles relax

elastic recoil causes the volume to increase and the pressure in the heart to drop. When pressure in the atria falls below that in the vena cava and pulmonary vein blood flows into the atria from the veins to fill them The pressure in the ventricles is lower than that in the arteries, causing the semilunar valves to close. The atrioventricular valves remain closed [Summary: atria fill, ventricles empty; semilunar and AV valves closed] Atrial systole As the atria fill with blood the pressure increases. When the increased pressure in the atria exceeds that in the relaxing ventricles blood will flow into the ventricles and the blood flow opens the AV valves The muscles in the wall of then atria contract which results in a decrease in volume which increases the pressure so the remaining blood is forced into the ventricles. [Summary: atria empty, ventricles fill, AV valves open, semilunar valves shut] Ventricular systole The muscles in the walls of the ventricle contract (after a slight delay) from the base upwards which decreases the volume and increases the pressure in the ventricle When the pressure of the blood in the ventricles exceeds that in the atria the blood forces AV valves shut When the pressure of the blood exceeds that in the arteries blood is forced out of the ventricles into the arteries, the blood flow opens the semilunar valves [Summary: atria empty; ventricles pump and empty, AV valves closed, semilunar valves open] Key points to remember: The blood flow opens and closes the valves (they cannot do it on their own) Contraction of the muscles decreases the volume of the chambers to increase the pressure which is what makes the blood flow. Atherosclerosis, Blood Clotting and coronary heart disease. Atherosclerosis is the disease process that occurs within arteries causing them to narrow. Arteries can be blocked by fatty deposits and can also become blocked by a blood clot (thrombosis). The development of atherosclerosis (this wording is crucial) Lining of artery wall (endothelium) damaged(e.g. by high blood pressure) Leads to inflammatory response Large white blood cells leave blood and move into artery wall Cholesterol (a steroid, a type of fat) and fat accumulates in the cells forming an atheroma (=fatty deposits in the wall)

 Calcium salts and fibrous tissue also build up, resulting in a hard swelling called a plaque (=calcified fibrous and fatty deposits in wall) This causes the elasticity of the wall to be reduced (so unable to stretch or recoil as much) The build up of atheroma causes the lumen to reduce in size so the artery gets narrower. This causes the blood pressure to increase, and also less blood will pass through the artery. Blood clotting Damage to lining of blood vessel/surface of atheroma platelets become sticky and form a platelet plug platelets release thromoplastin together with calcium ions + vitamin K thromboplastin causes conversion of prothrombin thrombin thrombin causes conversion of fibrinogen fibrin forms a tangled mesh which traps red blood cells to form a blood clot Treatment of blood clots Anti-clotting drugs prevent the formation of blood clots. Aspirin reduces platelet stickiness Warfarin (under medical supervision) acts by interfering with vitamin K which is vital for blood clotting and prevents the synthesis of prothrombin in the liver. Drugs to deal with blood clots Streptokinase- a bacterial enzyme - activates the enzyme, plasminogen which produces plasmin which in turn, dissolves blood clots by degrading the protein, fibrin (sometimes called a clot buster drug) Cadiovascular disease: The consequences of atherosclerosis Atherosclerosis is the disease process that leads to cardiovascular disease. This wording in bold is crucial The fatty deposits/atheroma can either block an artery directly or increase the chances of it being blocked by a blood clot In either case the blood supply can be severely reduced or blocked completely. This reduces the oxygen supply and cells die. In the arteries in the brain this leads to the death of brain cells leading to a stroke. In the coronary arteries in the heart this leads to coronary heart disease either o reduction in blood supply angina (a severe chest pain which spreads down the left arm especially) because cells use anaerobic respiration producing lactic acid o or, if the coronary arteries are blocked, heart cells die, heart muscle is unable to contract, heart stops beating properly a heart attack Sometimes, if the impeded blood flow leads to an increase in pressure, and if there is a weakness in the wall of the artery, the artery can swell. This is an aneurysm. Some times this can burst, resulting in a severe loss of blood that can, sadly, lead to death.

Risk factors for cardiovascular disease Risk is the probability of occurrence of some unwanted event or outcome e.g. a disease, an accident, death etc. Peoples behaviour is affected by the perception of risk. They overestimate the risk of something happening if the risk is not under their control, unnatural, unfamiliar, dreaded, unfair or very small. There is a tendency to underestimate the risk if it has an effect in the longterm future e.g. health risks associated with smoking. Correlation: Two factors are positively correlated if an increase in one is accompanied by an increase in the other. Identifying Risk Factors for CVD Types of large-scale study Cohort studies A large group of people are followed over time, data is recorded about risk factors, those that develop the disease are recorded compare exposure to risk factors between those that develop the disease and those that dont and look for correlations (cause and effect) and draw conclusions from this data. (i.e. select a group and see who develops the disease and who doesnt) Advantages: Large sample (so statistically reliable) Disadvantages: Long term (one problem is drop-out affecting the reliability of the sample/Costly Case studies A group of people with a disease are compared with a group who dont. Record data; look to make correlations between cause and effect and draw conclusions (i.e. select two groups (i.e. with and without) and see what the differences are in terms of exposure to risk factors) Advantages: Smaller sample/Shorter term Disadvantages: Smaller sample may introduce statistical unreliability or bias Prospective studies Look at what happens to people in the future Retrospective studies Look at what happened to people in the past What makes a well-designed study? Must have a valid and testable hypothesis e.g. an increase in a factor will increase the risk of developing the disease or a null hypothesis this usually states that the risk factor has no effect on the risk of developing the disease. (It is often easier to prove something is wrong than it is to prove something is right.)

 Must use a representative sample i.e. a sample of people within which the proportion of different groups, e.g. age, gender, ethnicity etc. is the same as in the whole population Generate valid and reliable results Reliability Large sample so results could not have occurred by chance Repeats to eliminate anomalies Controls so the only differences between individuals will be due to the effect of the risk factor e.g. same questions, measurements with the same apparatus, disease symptoms defined precisely etc often requires matching groups, e.g. to study the effect of blood pressure on CVD, the study would need two groups of same number of people of same age, who dont smoke, some with low bp and some with high bp Validity means that study succeeds in measuring what it was intended to i.e. what is measured is actually the effect of a particular risk factor on the incidence of the disease Risk factors for cardiovascular disease Non-modifiable risk factors (factors we cannot control) Age Gender Genes (family history) Modifiable risk factors (factors we can control) High blood pressure Diet, especially cholesterol, sugar, salt + energy intake Obesity (due to diet + lack of exercise) Smoking Also; o Lack of exercise/Excessive alcohol consumption/Excessive stress Blood Pressure Blood pressure is a measure of the hydrostatic force of the blood on the walls of a blood vessel. Pressure is generated by: the pumping of the heart = systolic pressure the elastic recoil of the walls of the arteries = diastolic pressure. It is higher in arteries than in veins.

Causes of high blood pressure Any factor which causes arteries to constrict or get narrower will lead to high blood pressure loss of elasticity with age narrowing of arteries due to atherosclerosis Smoking: Nicotine increases heart rate + causes vasoconstriction Obesity: Blood pressure increases because more cells need to be supplied so a higher bp is needed to get the blood through more blood vessels to get to all the tissues and organs High blood pressure and cardiovascular disease

Increase in blood pressure increases risk of damage to lining of arteries increases risk of atherosclerosis (use wording from above to describe how this happens) increased risk of CVD (use wording from above to explain the link) Carbohydrates Monosaccharides Glucose, fructose and galactose are all monosaccharides all have the molecular formula C6H12O6 have 6 carbon atoms, so are called hexose sugars Carbon atoms joined together to form rings atoms associated with hydroxyl groups OH hydroxyl groups and H atoms joined to the carbon atoms project above and below the plane of the carbon atom ring
S g r p ly e u a o m rs d a c a e a dp ly a h rid s is c h rid s n o s cc a e

Glu s co e

S g r u its ca b ua n n e join d tog th r e e e b c d na y on e s tion re ction (i.e a a s . b d is form d a on e s are u of th s lt e e in tion of a lim a w te m cu ) a r ole le

e . tw g c e .g o lu os m cu s join d b a ole le e y g c id b d ly os ic on to m k m ltos ae a e

Th isc lle a a1 is a d n ,4 b c u ea -g c s ea s lu o e

g c s ic b n ly o id od

b n b t e nc rb n1a dc rb n4 o d ew e a o n a o

Examples of disaccharides Maltose glucose+glucose Sucrose glucose+fructose glucose+galactose

Lactose

Poly ccha sa rides

Additiona sug r units ca be joined to either l a n end of a disa ccha ride m olecule by condensa tion (a before) s to produce a cha of sug r units in a ca a polysa lled ccha ride

glycosidic bonds

Glycogen Storage form of glucose in animals found in liver and muscles Starch Storage form of glucose in plants Relationship between structure of starch/glycogen and their function. These are large molecules made from lots of glucose monomers allowing storage of large amounts of energy; they can pack lots of glucose molecules into a small space for efficient storage so cells can store large amounts of energy.

insoluble so will not diffuse out of the cell. storing glucose as an insoluble polymer rather than as free glucose o prevents the concentration of glucose itself becoming so high that it exerts an osmotic effect on the cell (lowers water potential so water diffuses in and cells swell) o or does not produce a diffusion gradient for glucose to diffuse out of the cell which is trying to store it! the branches provide lots of ends" to which more glucose can be o added for storage when lots of glucose is available o or released (by hydrolysis by a specific enzyme) when glucose needed for respiration

How glucose is released from di- and polysaccharides Disaccharides can be split, and glucose can be broken off the ends of polysaccharides by a reaction which reverses the process which joined them together in the first place i.e. addition of water to the glycosidic bond will split it this is called hydrolysis

water added to the glycosidic bond

This is hydrolysis

H and OH added to the components of the bond to reform the hydroxyl groups of the separated sugars , which is the reverse of condensation

Lipids
Structure of a triglyceride Components NB: Triglyceride = fat

ester bond

triglyceride because the molecule contains 3 fatty acids

Types of fatty acid determine the type of triglyceride Saturated fats contain saturated fatty acids Unsaturated fats contain unsaturated fatty acids.

Saturated fatty acids Every carbon atom is bonded to as many hydrogen atoms as possible no more can be added, hence saturated (with hydrogen) Carbon chain is straight, with no kinks Triglycerides consisting of saturated fatty acids can pack together to form solid fat at room temperature Mainly found in animal fats from meat and dairy products Unsaturated fatty acids Not every carbon atom is bonded to as many hydrogen atoms as it could be hence unsaturated (with hydrogen) and so there are double bonds present Double bonds introduce a definite kink in the carbon atom chain Triglycerides consisting of kinky unsaturated fatty acids do not pack together easily and form liquid oils at room temperature Mainly found in vegetable oils, nuts and fish Risk factors for cardiovascular disease Modifiable risk factors (factors we can control) Diet, especially cholesterol, sugar, salt + energy intake Obesity (due to diet + lack of exercise) Smoking Also; o Lack of exercise/Excessive alcohol consumption/Excessive stress Energy balance Less energy regularly taken in than required = negative energy balance Results in use of stored energy reserves (glycogen, then fat then protein) to compensate weight loss More energy regularly taken in than required = positive energy balance Results in excess energy being stored as fat weight gain which can lead to obesity BMI = body mass (kg)/height2 (m) Generally associated with: high energy content of diet, especially sugar and saturated fats lack of activity/sedentary lifestyle (significant contribution!) advertising and commercial pressures/readily availability of food, 24 hr shops, take-aways etc Consequences of obesity Blood pressure increases because more cells need to be supplied so a higher bp is needed to get the blood through more blood vessels to get to all the tissues and organs risk of atheroma (use wording from above to describe how this happens) Blood LDL cholesterol level increases which increases the risk of atheroma ...--> heart disease (use same wording as above) Increases risk of type II diabetes which also increases risk of CHD

Cholesterol Cholesterol is an essential component of cell membranes building-block of steroid hormones e.g. testosterone, oestrogen etc. derivatives are components of bile salts, essential for fat digestion necessary for vitamin D production in the skin Cholesterol is transported in blood plasma by lipoproteins. Lipoproteins carry cholesterol between the liver where it is made and broken down and the tissues where it is used High density lipoproteins = HDL = good cholesterol transports cholesterol to the liver to be broken down so reduces amount of cholesterol in the blood reduces risk of cholesterol deposition in artery walls so prevents atherosclerosis Low Density lipoproteins = LDL is bad cholesterol keeps blood cholesterol levels high increases risk of cholesterol getting deposited in artery walls atheroma atherosclerosis (use the wording from above to describe how this happens) CVD (use the wording from above to explain the link) LDLs can increase because of: Diet high in saturated fat/cholesterol causes the liver to produce more LDLs Lack of exercise Being overweight Smoking Genes (familial hypercholesterolaemia) Increasing age, in men more than women Smoking Reduces levels of HDLs Carbon monoxide increases deposition of cholesterol in atheroma formation Nicotine increases heart rate + causes vasoconstriction to increase blood pressure Contents in smoke (e.g. toxic free radicals) which get into blood stream can damage lining of blood vessels which starts the process of atherosclerosis Carbon monoxide also combines irreversibly with haemoglobin to produce carboxyhaemoglobin which cannot carry oxygen so oxygen-carrying capacity of blood reduced so if blood flow is reduced due to atherosclerosis tissues get even less oxygen which can increase risk of cell damage/death Nicotine also increases stickiness of platelets so increasing risk of blood clots, especially in the coronary arteries All increased risk of CHD Reduce the risk of CHD.

Change the diet to reduce cholesterol: reduce intake of cholesterol, saturated fats low fat diet; less animal fats and dairy products lower LDLs also eat more fruit and veg to provide soluble fibre to reduce cholesterol uptake include food with added sterols and stanols (plant compounds which reduce cholesterol uptake from the gut) e.g e.g. FloraTM or BenecolTM eat more fruit and vegetables which contain vitamins that function as antioxidants e.g. vitamin C, E and beta-carotene (these help prevent damage caused by free radicals (highly reactive chemicals which provide H atoms to pair up with unpaired electrons) which act as oxidising agents damage DNA, proteins and LDLs); 0xidised LDLs are more readily taken up by the white blood cells involved in atherosclerosis and so increase the risk of CHD thus It is recommended that a healthy diet should include 2 portions of fruit and 3 portions of veg per day. Stop smoking After stopping, the risk of CHD is almost halved after one year.

Increase level of exercise increases metabolic rate so more fat used to supply energy weight loss lowers LDLs and raises HDLs so reduces risk of atheroma atc. exercises the heart muscle improves coronary circulation increases muscle in left ventricle reduces heart rate and increases stroke volume so heart does less work to deliver the same amount of blood to the tissues Drug treatments for CVD Drugs o reduce blood pressure: Anti-hypertensive drugs prevent vasoconstriction associated with high blood pressure

Diuretics increase the amount of urine produced so reduce plasma volume so reducing blood pressure

Drugs to reduce blood cholesterol to reduce risk of atherosclerosis: Statins used to lower blood cholesterol to reduce the risk of heart disease and stroke work by preventing production of LDL cholesterol

Drugs to prevent the formation of blood clots Platelet inhibitory drugs: Aspirin reduces platelet stickiness Anti-coagulants: Warfarin

acts by interfering with vitamin K which is vital for blood clotting and prevents the synthesis of prothrombin in the liver.

Topic 2 summary Make sure your notes cover the following points. The points are listed in the order they appear within the topic. All the points are covered in the textbook but where there is supporting information within the activities this is indicated. There are suggestions on making notes and on revision in the Exam/coursework support. You should know the following points: The properties of gas exchange surfaces in living organisms (large surface area to volume ratio, thickness of surface, differences in concentration) and how the structure of the mammalian lung is adapted for rapid gas exchange. (Activities 2.3, 2.4 and 2.5) (Checkpoint question 2.1) The basic structure of an amino acid (structure of specific amino acids is not required). (Activity 2.6) The formation of polypeptides and proteins (as amino acid monomers linked by peptide bonds in condensation reactions). (Activity 2.6) The significance of the proteins primary structure in determining its three-dimensional structure and properties (globular and fibrous proteins and types of bonds involved in threedimensional structure). (Activity 2.6) (Checkpoint question 2.2) 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. (Activity 2.7) How membrane structure can be investigated practically, e.g. by the effect of alcohol concentration or temperature on membrane permeability. (Activity 2.8) The meaning of osmosis in terms of the movement of free water molecules through a partially permeable membrane (consideration of water potential is not required). (Activity 2.9) Passive transport (diffusion, facilitated diffusion), active transport (including the role of ATP), endocytosis and exocytosis and the involvement of carriers and channel proteins in membrane transport. (Activity 2.9) How the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gas exchange, digestive and reproductive systems. (Activity 2.10) Mechanism of action and specificity of enzymes in terms of their three-dimensional structure; the understanding that enzymes are biological catalysts that reduce activation energy, catalysing a wide range of intracellular and extracellular reactions. (Checkpoint question 2.3 and 2.4) How enzyme concentration concentrations can affect the rates of reaction and how this can be investigated practically by measuring the initial rate of reaction. (Activity 2.11) The basic structure of mononucleotides (as a deoxyribose or ribose linked to a phosphate and a base, i.e. thymine, uracil, cytosine, adenine or gauanine). (Activities 2.12 and 2.14) The structure of DNA and RNA (as polynucleotides composed of mononucleotides linked through condensation reactions). (Activities 2.12 and 2.14) How complementary base pairing and the hydrogen bonding between two complementary strands are involved in the formation of the DNA double helix. (Activities 2.12 and 2.14) The nature of the genetic code (triplet code only) and a gene is a sequence of bases on a DNA molecule coding for a sequence of amino acids in a polypeptide chain. (Activities 2.14) Outline of protein synthesis, including the role of transcription, translation, messenger RNA and the template (antisense) DNA strand (details of the mechanism of protein synthesis on ribosomes are not required). (Activities 2.14) The process of DNA replication (including the role of DNA polymerase). (Activity 2.15) How Meselson and Stahls classic experiment provided new data that supported the accepted theory of replication and refuted competing theories. (Activity 2.15)

How errors in DNA replication can give rise to mutations and how cystic fibrosis results from one of a number of possible gene mutations. The meanings of the terms: gene, allele, geneotype, phenotype, recessive, dominant, homozygote, and heterozygote. (Activity 2.16) (Checkpoint question 2.6) Monohybrid inheritance, including the interpretation of genetic pedigree diagrams. (Activity 2.16) The principles of gene therapy and the distinction between somatic and germ line therapy. (Activity 2.18) The uses of genetic screening: identification of carriers, pre-implantation genetic diagnosis and prenatal testing (amniocentesis and choronic villus sampling) and discuss the implications of prenatal genetic screening. (Activity 2.19) Identify and discuss the social and ethical issues related to genetic screening from a range of ethical viewpoints. (Activity 2.19) (Checkpoint question 2.7)

Topic 2 Revision Notes Gas exchange Gas exchange is the transfer of gases (oxygen and carbon dioxide) by diffusion between the organism and the environment. It takes place simply by diffusion. It occurs at a specific gas exchange surface (the ultimate gas exchange surface is a cell membrane) In mammals gas exchange takes place in the lungs

The efficiency of gas exchange depends on the surface area:volume ratio. As organisms get bigger each unit of its volume is supplied by a proportionally decreasing surface area so to obtain sufficient oxygen for the demands of the cells in the body the organism needs to greatly increase the surface area of the gas exchange surface without significantly increasing its volume. In the lungs this achieved by the alveoli. The Gas Exchange in the alveoli Oxygen in air in alveolus (obtained by breathing) dissolves in fluid layer, then diffuses in solution across the alveolar barrier into the blood/blood cell in the capillary of the pulmonary system. Ficks Law and the rate of diffusion Diffusion is the net movement of molecules from a region of high concentration to a region of low concentration, caused by the random movement of individual molecules. If temperature remains constant the rate of diffusion is governed by three factors; this is expressed as Ficks Law Rate of diffusion is proportional to; surface area x concentration gradient/distance So rate of diffusion increases if surface area and concentration gradient increase and distance decreases.

Adaptations of lungs Large surface area Diffusion distance very large number of alveoli with a total surface area of approx 100 m2 Alveolar barrier very thin: 0.5m (flat, thin cells of wall of capillary attached to flat thin cells of wall of alveolus NB max 2 cells thick) so distance very short between oxygen in air in alveoli and oxygen in blood) alveolar side: air containing oxygen moved into alveoli by breathing (ventilation) blood side: many capillaries so lots of blood: oxygen combines with haemoglobin in red blood cells and removed by circulation in pulmonary system supply/removal maintains steep diffusion gradient (reverse for carbon dioxide)

Concentration gradient for oxygen

Proteins Proteins are polymers of amino acids Structure of an amino acid.

There are 20 different types of amino acid commonly found in the proteins in living organisms. It is only the R group which differs in each case Amino acids are linked together by condensation reactions

This process can be repeated many times with amino acids being added at either end of the chain to produce polypetide chains which may contain thousands of amino acids.

Protein structure Primary structure is the sequence of the different amino acids along the polypetide chain, from one end to the other because proteins can have different numbers and sequences of the 20 different types of amino acid many different types of protein exist. Secondary structure this is the shape formed by the amino acid chain as the amino acids bend and twist to form the most stable arrangement; the commonest form is the alpha helix a spiral shape the stability of the helix is maintained by hydrogen bonds between the acid and amino groups of the peptide bonds of adjacent amino acids Tertiary structure a polypeptide chain often folds and bends back on itself to produce a precise three-dimensional shape: shape determines function bonds may form between the R groups of the amino acids which find themselves close together

some of these bonds are weak, such as hydrogen bonds (can be broken by increased vibrations if molecule is heated up or in acid conditions) others are very strong and help to maintain the tertiary structure, such as disulphide bridges which form between the R groups of certain sulphurcontaining amino acids. if any of these bonds are broken (e.g. by increased vibrations as the molecule is heated up, or by changes in pH) the protein will unfold and lose its tertiary structure. It is said to be denatured.

Quaternary structure Some functional proteins are made up from several different polypeptide chains (which have there own primary, secondary and tertiary structures) bound together, e.g. insulin has two chains. Learn this wording to describe how the primary structure influences the structure of a protein.

The sequence of amino acids (the primary structure) determines where the chain will fold, and where the amino acids are whose R groups will form the bonds (e.g. the disulphide bridges) which stabilise the tertiary structure when the protein folds so it always folds in the same place to produce the same shape.

Lipids (50%) As phospholipids ComponentsofGlycerol + 2 fatty acid chains + a cell membrane Globular phosphate group proteins
Structure of the cell membrane Carbohydrates chains attached to proteins (called glycoproteins) Phospholipids
phosphate group glycerol fatty acid no charge so non-polar - ve charge so polar soluble in water water loving

water hating

insoluble in water

Fluid mosaic model of the structure of cell membranes

Phospholipid bilayer = phospholipids arranged so hydrophobic tails avoid contact with water Phospholipids molecules can move within the bilayer so it flows like a fluid Cholesterol molecules fit in between phospholipids and bind weakly to them regulates membrane fluidity (less fluid) and stability (more stable) - reduces permeablity to very small molecules Proteins = globular proteins embedded randomly in phospholipid bilayer like a mosaic Types of protein Hence fluid mosaic model Carbohydrate chains are attached to proteins (=glycoproteins) and lipids (= glycolipids) on the outside surface of the cell surface membrane only. These can act as antigens (recognised by the immune system) or receptors (which other molecules can bind to) structural enzymes channels carriers receptors antigens

Check for yourself. Core Practical: effect of ethanol concentration on membrane permeability

Methods of transport across membranes. Diffusion: small lipid soluble molecules move from high to low concentration through phospholipid bilayer (so not ions, glucose etc); passive, no energy needed, no carriers. Osmosis: movement of free water molecules from high to low concentration through the partially permeable cell membrane; passive, no energy needed, no carriers. Facilitated diffusion: diffusion, through channel or carrier proteins; passive, no energy needed. Active transport: can go against concentration gradient, through carrier proteins; active so energy required. Exocytosis or endocytosis: bulk transport of substances (e.g. bacteria, proteins) in vesicles; exocytosis vesicles from inside cell fuse with membrane; endocytosis membrane folds inwards to form vesicles inside cell. Cystic fibrosis The effects of CF on the lungs. CF leads to sticky mucus which cannot be moved by the cilia Mucus is continually produced so the thickness of the mucus layer builds up as it accumulates Any pathogenic bacteria trapped by the mucus will multiply which can lead to disease symptoms e.g. bronchitis, pneumonia White blood cells fight infections within the mucus; when they die the long DNA molecules released from their nuclei make the mucus even stickier. Mucus accumulation may block the small bronchioles which makes breathing more difficult, and prevents air reaching the alveoli so reducing the number of alveoli in which gas exchange can occur, so also reducing gas exchange. Consequently CF sufferers can carry less oxygen in their blood so any activity is difficult and they become short of breath on exertion.

The causes of CF CF is the result of a channel protein in the membrane of the epithelial cells lining the airways that normally produce mucus not working properly. This protein is called the CFTR protein or CF transmembrane regulator protein. The normal function of CFTR is to control the flow of chloride ions (Cl-) out of the cell.

The normal situation

Cl -

Chlori de ions diffuse out of cell into mucus

Epithelial cells lining bronchioles

w ater

Chloride ions pum ped into cell by active transport

Build up of chloride ion concentration in mucus (lowers water potential) means water diffuses out of cell into mucus by osmosis so producing the normal watery mucus

In a CF sufferer
So chloride ions dont get into mucus so water doesnt diffuse into mucus by osmosis so it becomes sticky

Chloride ions still pumped into cell so ion concentration increases (**) so water diffuses out of mucus into cell by osmosis making it more sticky

Chloride ion channel doesnt work (nonfunctional or absent)*

Cl -

*This is the result of a mutation in the gene which contains the genetic code to produce CFTR protein (**) makes cytoplasm more concentrated/contains less water/lowers water potential so water will diffuse in

Effect of CF on lungs see above Effect of CF in the digestive system Sticky mucus blocks pancreatic duct reduces release of digestive enzymes into small intestine reduces digestion of carbohydrates, proteins and lipids in food (because fewer enzymes so fewer active sites so less hydrolysis of proteins etc) food not fully digested so reducing amount of essential nutrients absorbed sticky mucus layer builds up covering wall of small intestine makes diffusion pathway longer for cells to absorb what nutrient molecules there are further reducing uptake Effect of CF in reproductive system Sticky mucus; in females: blocks cervix so sperm cannot penetrate mucus plug to reducing chances of fertilisation in males: blocks sperm ducts, reduces sperm count, reducing fertility Treatments for CF Physiotherapy (percussion) to help make mucus move out of lungs to improve breathing and reduce risk of infection Breathing out through a flutter device which causes rapid changes in air pressure in the airways; these vibrations aid the movement of mucus

Use of bronchodilator drugs to relax the muscles to open the airways to improve airflow. Antibiotics (several different types) to kill the bacteria trapped in the mucus to prevent infections DNA-ase enzyme to breakdown the DNA from the breakdown of the white blood cells and bacteria in the mucus; makes mucus less sticky Digestive enzyme supplements helps digestion in the small intestine (poor because pancreatic duct blocked) Diet; because of reduced efficiency of digestion, eat high-energy foods and more protein. Heart-lung transplants to replace damaged lungs.

Enzymes An example of proteins in action showing the relationship between structure and function Enzymes are globular proteins with catalytic properties which lower the activation energy of a reaction so speed up the rate of reaction. Enzymes are proteins with a very precise tertiary structure which produces a very specific 3-D shape; this shape is vital for the functioning of the enzyme. The precise 3-D shape of the protein includes a small region where the actual reaction being catalysed takes place, called the active site. It too has a very precise shape It usually only involves a few amino acids brought into close proximity by the folding of the molecule The rest of the amino acids are involved in maintaining the tertiary structure of the molecule. Anything which disrupts the tertiary structure, such as high temperatures or extremes of pH - both of which disrupt or break the hydrogen bonds and other bonds between the R groups so the protein unfolds and loses its shape cause the active site to lose its shape so that the substrate no longer fits

How enzymes work as catalysts. Lock and key hypothesis enzyme and substrate are constantly moving around in solution and there will be random collisions between them. the substrate which has a shape complimentary to the active site - fits into the active site to form a temporary enzyme-substrate complex

the reaction takes place then the products leave the active site so more substrate can now bind to repeat the process

Enzymes participate in the reaction but they are not altered by it Enzymes are specific: only a substrate of the correct (complimentary) shape can fit into a particular active site. if a molecule has a different shape is cannot fit. An alternative explanation of how enzymes work. The induced fit hypothesis the substrate to the active site which produces a slight but significant change in its shape such that the reaction can now proceed. Why cells use enzymes in biological reactions. Act as catalysts Reduce activation energy of reactions so speed up rate of reactions Not used up by reaction so cell does not need to waste energy by constantly making new enzymes Enables reactions to occur fast enough at ambient temperatures to provide sufficient energy, make sufficient proteins etc to support life

Explanation what might happen to the functioning of an enzyme if the gene that codes for it was altered by a mutation A mutation could result in a different amino acid being incorporated into the polypeptide chain. This alters the primary structure of the protein so it may fold incorrectly or the bonds cannot be made to stabilise the tertiary structure so distorting the shape of the active site so the substrate no longer fits and the enzyme is less active or even non-functional Or, if it is part of the active site itself, the substrate may no longer be able to bind But if it occurs in a non-critical region (i.e. not involved in folding, maintaining shape or in the active site) it may have no effect. Rates of enzyme-catalysed reactions Rate can be measured as amount of substrate broken down or amount of product produced in a set time Rate will initially be high when there is lots of substrate. But rate slows over time as amount of substrate decreases Effect of Enzyme concentration. Increasing the enzyme concentration increases the rate of reaction because there are now more active sites available to the substrates so more reactions can occur so more product can be produced. Core practical: activity 2.11 Effect of Substrate concentration. Increasing the substrate increases the rate of reaction (i.e. amount of substrate used up or product produced per unit time) because there will be more successful collisions between substrate and enzyme: i.e. rate of reaction is proportional to the amount of substrate

At high substrate concentrations the rate cannot increase any further, even though there is more substrate, because all the active sites are full so that any excess substrate is unable to be used: at this point the enzymes are saturated.

DNA, the genetic code and protein synthesis: How the CFTR protein in made: DNA and RNA are called nucleic acids DNA is only found in the nucleus. They are chemically polymers called polynucleotides. Structure of DNA DNA = Deoxyribonucleic Acid It is a polymer of building blocks called nucleotides. A nucleotide is composed of: o a phosphate group + a pentose sugar + an organic, nitrogencontaining base In DNA there are four different types of base: Adenine = A Thymine = T Cytosine = C Guanine = G Structure of a nucleotide
phosphate group Organic nitrogencontaining base (often referred to as a nitrogenous base or simply a base This one is thymine)

deoxyribose (pentose sugar)

DNA is actually a very large molecule made from two polynucleotide strands joined together The strands are held together by hydrogen bonds between the complimentary bases of the two strands The arrangement of the nucleotides cause the molecule to fold to form a spiral and the two strands twist around each other, hence DNA is referred to as the double helix The base pairing rule The bases on one strand can only pair up in a particular and specific way with the complimentary bases on the other strand Adenine + Thymine A + T Cytosine + Guanine G + C

DNA replication = DNA copying Occurs whenever a cell divides; one DNA molecule produces 2 identical DNA molecules

DNA unzips; hydrogen bonds between complimentary bases break to separate the strands new nucleotides line up on nucleotides on the separate DNA template strands following base complementarity rules (A + T, C + G) bases joined together to form a new strand by DNA polymerase Since new DNA molecule consists of one old and one new strand this is called semi-conservative replication. How do we know? The evidence. Meselson and Stahls classic experiment confirming semiconservative replication. See page 87-88. How the genetic code works. Each DNA molecule (which makes up a chromosome) contains the genetic code for a large number of proteins. A gene is a region of a DNA molecule which codes for the synthesis of one particular protein. The genetic code of a gene is the sequence of bases in the DNA molecule that codes for the order in which the amino acids are assembled into a polypeptide or protein molecule (i.e. the primary structure). Key concepts about the genetic code It is a triplet code. A sequence of 3 bases codes for one amino acid (3 bases is the minimum number to produce a code for the 20 amino acids) A codon is the triplet of 3 bases coding for one amino acid One codon codes for one amino acid only The code is universal: the same triplet codes for the same amino acid in all organisms. How the How the genetic code works genetic code works.
DNA transcription mRNA translation protein
too big to leave nucleus

sequence of codons in DNA gene copied as sequence of codons in mRNA

small, single stranded molecule which leaves nucleus, attaches to ribosome

sequence of codons in mRNA translated into sequence of amino acids

amino acids joined together to form the protein

Transcription of a gene: learn the wording! Hydrogen bonds between the DNA bases break so the DNA molecule unzips Bases of the gene to be copied are now exposed RNA nucleotides (present inside the nucleus) match up with the complementary bases on the DNA template strand (NB: A in DNA pairs with U in RNA) RNA polymerase joins up the RNA nucleotides to make a single strand of messenger RNA. Why is transcription necessary? DNA too big to leave nucleus Protein synthesis only takes place in cytoplasm So need mRNA to carry genetic information from DNA in nucleus to ribosomes in cytoplasm

Translation: learn the wording mRNA passes out of nucleus into cytoplasm and attaches to a ribosome on the RER transfer RNA molecules carrying the amino acids specific to their anticodons pair up with their complementary codons on the mRNA to get the amino acids in the right place in the primary structure. the amino acids are joined together by peptide bonds to form the protein. the protein then folds to form its specific tertiary structure. What goes wrong with DNA to produce CF?

Mutations.

Gene mutations produce new alleles, i.e. new versions of genes. The mutated form of the gene will be passed on each time the DNA is copied. Learn this wording: Mutation is a change in a DNA triplet code which leads to a different amino acid in the protein product of that gene i.e. alters the primary structure a different amino acid may alter how a protein folds or an amino acid with a different R group changes the bonding forming the tertiary structure so changing the proteins 3-D shape and hence its function. The CF mutation Mutation of the CFTR gene alters the CFTR protein which leads to the symptoms of CF Lots of different mutations have been identified affecting different parts of the protein molecule leading to the CFTR channel not working properly leading to CF The commonest mutation is DF508 where one amino acid is missing. Genetics; how genes are inherited. The observable characteristics of an organism are determined by genes. A gene is a region of a chromosome which contains the genetic code for the synthesis of a particular protein which determine a particular characteristic. Alleles are different forms of a gene. A dominant allele is one which will always exert its effect, whether it is present as one or both of a pair of alleles i.e. AA or Aa produces normal CFTR proteins because A is a dominant allele A recessive allele is one which is masked by the presence of a dominant allele: it only produces its effect as an observable characteristic when two recessive alleles are present i.e. the non-functional CFTR protein is only produced by the allele combination aa because a is the recessive allele The genotype is the versions of the alleles of a gene present, so AA, Aa and aa are different genotypes The phenotype is observable characteristics as a result of the expression of the alleles present, so normal and cystic fibrosis are phenotypes

A homozygous genotype is when both of the alleles present in a cell are the same i.e. AA or aa A heterozygous genotype is when the alleles present in a cell are different i.e. Aa In the case of genetic diseases a heterozygous individual, who does not suffer from the disease because of the dominant allele, is often referred to as a carrier of the recessive allele.

Pattern of inheritance of CF Basic pattern of genetic inheritance

Parents phenotype Genotype Gametes normal x normal carrier carrier Aa x Aa A a A a
A a Aa aa A a AA Aa

Offspring Genotypes phenotype

NB: recessive alleles only produce the recessive phenotype in homozygous individuals; such individuals will have got one recessive allele from each parent

AA = normal Aa = normal carrier aa = cystic fibrosis probability (CF) = or 0.25

See Q 2.29 on p 85

Gene Therapy

All the treatments mentioned so far treat and attempt to alleviate the symptoms to improve the quality of life and increase life expectancy. But they do not treat the cause. Since the cause is a defective gene, insertion of a copy of the normal gene should allow the normal CFTR protein to be produced and so prevent the development of the symptoms of CF. Learn this wording to describe gene therapy using viruses or liposomes (phospholipid spheres) Identify normal gene (cut out using restriction enzymes) Insert normal gene into virus or liposome vector Deliver virus or liposomes to patient e.g. injection, aerosol Virus infects cell/Liposomes fuse with target cells and gene inserted into cell Gene expressed in target cell Check if normal gene now expressed e.g. loss of symptoms, correct protein produced etc Somatic gene therapy - the treatment is designed to insert functional genes into specific cells in the body. The inserted genes cannot be passed on to the offspring Germ line therapy is an alternative approach. Normal genes inserted into eggs which means every cell in the resultant embryo will contain the inserted gene(s) and these can be passed on to future offspring. This is not permitted under current UK legislation. Moral and ethical arguments for and against gene therapy.

Do not try to learn all these. Pick three on each side of the argument that you agree with and could argue the case for. Remember too, there is no right answer! Arguments for Somatic Cell gene therapy Gene therapy has the potential treat genetic disorders Improves life expectancy Improves quality of life Reduces money spent on treatment of the condition; likely to be long term Everyone has the right to choose the best options to improve their health Does not affect anyone else If the treatment is available it is unethical to deny it to anybody

Arguments against Risk of side effects/more disease e.g. what happens if the gene gets inserted in the wrong place and disrupts the function of another gene e.g. this could increase the risk of cancer what would happen if the virus vector mutates to become harmful or cause another disease? treatment not cure so can still pass gene on to offspring Need for counselling about decisions. Post-code lottery; not available everywhere or only available to those who can pay Who decides which genes to treat? High expectations; risk of depression if it doesnt work Would widespread use of gene therapy make society less accepting of people who are different? Confidentiality. Who needs to know? Possible effects on life insurance premiums? Should people be allowed to use gene therapy to enhance basic traits e.g. athletic ability, intelligence, height? Issue of animals and embryos used in testing is it morally right to sacrifice other animals or potential humans to find treatment for others Arguments against germ line therapy Alters gene in all cells of resultant baby Baby did not give consent Altered gene passed on to future generations Genetic screening; testing for CF Knowledge of the code in normal CFTR gene and the abnormal CFTR gene has led to the ability to identify the abnormal gene. Testing (= screening) for the abnormal CF allele of the gene is done; to identify carriers (especially if there is a history of CF in the family, and since 1 in 25 peoplein the population are carriers) to provide information for genetic counsellors to assess the probability of a couple having a child with CF on a newborn baby to confirm other diagnostic tests on an embryo or foetus so parents will know whether their unborn child will have CF so important decisions can be made.

How genetic testing is done Samples of DNA obtained from the nuclei of cells, e.g. blood cells or cheek cells from babies or adults, cells from the foetus or developing placenta, or an embryo (see below). DNA cut up into small fragments using restriction enzymes. DNA strands separated. Specific defective CFTR allele detected by using a specific gene probe (small length of DNA with complimentary base sequence). Gene probe will bind to bases in CFTR allele in a way which enables it to be detected. Collecting cells from a foetus: since baby not yet born, sometimes called prenatal testing Cells of baby obtained by 1: Amniocentesis: usually at 15-17 weeks of pregnancy needle inserted to collect a sample of amniotic fluid which contains cells from placenta and foetus cells cultured and DNA extracted as above Limitations of amniocentesis carried out quite late in pregnancy takes several weeks for results to be available so any subsequent termination is more complex surgically and more traumatic for the mother Procedure has a 0.5 1% risk of miscarriage

2: Chorionic villus sampling; usually at 8-10 weeks Small sample of placental tissue removed (includes cells of the foetus) DNA extracted Advantages of CVS Carried out earlier in pregnancy - 8-10 weeks More cells collected so results available quicker so pregnancy much less established so termination easier and (potentially?) less traumatic to the mother But 1 2% risk of miscarriage DNA from an embryo: sometimes called pre-implantation genetic diagnosis (PIGD) Involves collecting several eggs and in vitro fertilisation to produce several embryos Remove a cell from the embryo at the 8-16 cell stage (a few days old) and test that for the presence of the defective CFTR allele. Only implant viable embryo without CF mutation to establish pregnancy. Advantages No pregnancy to terminate Know that baby will not have CF Disadvantages Expensive IVF itself expensive and still fairly unreliable How to decide who gets the treatment since cost prevents its availability to all?

Possibility of false negatives What is done with the spare embryos?

What options are there if the test on an embryo or foetus is positive for CF? If pre-implantation dont implant CF embryo. If pre-natal consider termination (not compulsory!); some people consider termination wrong (=murder) Amniocentesis/CVS means tests carried out early in pregnancy so there is choice early termination (less traumatic) if decide not to termination it allows time for preparation for early treatment of baby for parents to come to terms with the issues facing them and counselling to help them cope allows for peace of mind if baby found to be normal If both parents are found to be carriers, what are the options open to them? Decide not to have children; maybe adopt Take the 1 in 4 risk of child being CF Use IVF and only implant non-CF embryo Have CVS or amniocentesis test once pregnant and terminate if CF Use artificial insemination by donor (who is not a carrier) to avoid the risk Use egg donation (from a non-carrier) to avoid the risk

Moral and ethical dilemmas of genetic screening. Positives of Genetic screening Identifies carriers Allows informed decisions whether to have children Enables carriers to get pregnant (previously they may not have taken the risk) but reduces risk of giving birth to baby carrying a genetic disease Allows early intervention e.g. only implant CF -ve embyo, allows for choice of termination for CF +ve foetus If know, can deal with it. Allows a change in life style (e.g. for hypercholesterolaemia and risk of heart disease) to reduce risk e.g. change diet, monitor cholesterol levels etc. In long term may benefit society by reducing costs involved in treatment, support services etc. Negatives of Genetic screening Knowledge that at risk could lead to stress, depression (e.g. Huntingtons disease, breast cancer); would you want to know? Cost of screening/use of resources perhaps better used elsewhere? Who decides what genes to test for? Confidentiality; who needs to know you carry specific alleles?

 Problems with life insurance (knowledge about genes affects expectancy/premiums etc) Employment; treated differently? Everybody has the right to life. May lead to more terminations? Baby has no say in the decision. Potential waste of a productive life? Test may indicated the risk of developing a debilitating life-threatening illness later on in life, but what positive things could be done before that? Ethics of testing embryos (i.e. more embryos than needed will be created, those with mutation destroyed- what happens to the rest? Do not try to learn all these. Pick three on each side of the argument that you agree with and could argue the case for. Remember too, there is no right answer!