|: Lifestyle, Transport, Genes and Health Cor-Tge Fema ia las Battle acl Cy ‘The heart pumps the blood around the body. Itis difficult to study the human heart because its deep within the body. However, we can study the functioning of the heart in an organism in which the heart is visiole without the need for damaging and invasive procedures, such as the water flea, Daphnia sp. This invertebrate is suitable for this experiment because it * is abundant and easily obtained + is transparent + has a very simple nervous system and will nt suffer ‘stress’ such as a mammal might, which makes it ethically more appropriate, Many substances, such as hormones and dietary components, can affect heart rate. A core practical to look al the effect of caffeine ‘There are two ways to da this experiment: Put Daphnia in a caffeine solution and compare heart rates with control Daphnia in plain pond water + Put Daphnia in a range of diferent strength caffeine solutions ocr Examiner tip TZ Although simple animal models are useful te getideas abouthow human body systoms work itmust be remembered they are nathuman. Conelusons drawn from such ‘experiments shouldbe consiered carefully wien extended to humans. Making this experiment successful + inmobilse the Daphnia Use strands of cotton woelin a small dish of the experimental solution. 7 contiol ether vatiables, such as water | Dificul to maintain a conant temperature temperature, Daphnia sie, ete ‘but should be monitored with a thermemeter in the water Daphnia of simlar size, etc. should be used for all measurements + accurate measurement of heart rate ‘A dots put on a piece of paper fran shape to avoid putting one dot on top of another) or cicking a button on a calculator + repenabiiy Ensure that vaviaoles other than caffeine concentration are controlled, ‘Wpical student data from this experiment: oes, ee eee) 1 170 140 z 16 12 3 170 1 a 186 198 5 176 120 ResultsPlus . mary The cardiac cycle ‘The human heart is basically two muscular pumps, one sending the blood to the lungs ‘or removal of carbon dioxide and oxygenation, and the ather sending the blood round the body. A system of vahes ensures that blood flows through the heart in one direction. ‘The atria and ventricles contract during systole and relax during diastole. Elastic recoll of the heart muscles lowers pressure in the atria and ventricles. Blood is drawn into the heart from the arteries andl veins, losing the semi-lunar valves. Students frequently try to explain the opering and closing of heart valves interms of muscles inthe valves contracting and relaxing this wrong. Valves open and close due ta pressure differences between ane side andthe other Ipressure gradients). The muscles causing these pressure gradients ao those ofthe ventricles and ava, DOI, cer esccs2 corpsesTopic 1: Lifestyle, health and risk set pares rey rebtpunaney vin — _ reese ens cot wewptvne pty na none aoe | Spwetneet mec spn eral section trough the heart show blood flow This isthe sequence of events on the left side cof the heart during a single ‘beat’ (On the right side, at the same time, blood enters from the body along the Blood drains into the left atrium from lungs along the pulmonary vein T vvena cava. The right atrial muscle contracts and the Raising of the blood pressure in right AV valve opens due the left atrium forces the left to the pressure difference. attio-ventricular valve open The blood enters the right ventricle. Now the right ¥ ventricle muscle contracts, forcing the semilunar valve in ‘the mouth of the pulmonary artery open and the blood leaves through this valve Contraction of the left atrial muscle (left atrial systole) forces more blood through the valve T along the artery to the lungs. The atria and ventricles {As soon as left atrial systole is over, contract during systole and the left ventricular muscles start to relax during diastole, Elastic ‘contract, This is called left ventricular recall of the heart muscles systole, Ths forces the left A-V valve lowers pressure in the atria closed and opens the valve in the and ventricles, Blood is drawn mouth of the aorta (sernlunar valve). into the heart fram the Blood then leaves the left ventricle arteries and veins, losing the along the aorta, semilunar valves. Thinking Task SAQTNETTTM at draw a towehart forthe cyto of events onthe right side ofthe Q1_Name the chamber of the heart: heart during one ‘turn ofthe ‘a which pumps blood from the heart to the lungs cardiac cycle. Use the flowchart b which receives blood from the vena cavae ofthe events onthe loft side ‘¢ which pumps blood from the hear: to the aorta, land the written account of what Q2_ Give three reasons why Daphnia isa suitable subject for study in the heart happens onthe right side to help rate and caffeine experiment. you with his|: Lifestyle, Transport, Genes and Health Cardiovascular disease (CVD Blood clotting is a vital defence mechanism for the body. Ifyou suffer a cut or graze, then clotting can: ‘© minimise blood loss + help prevent the entry of pathogens * provide a framework for repair. But, if a clot occurs inside a blood vessel it can be very dangerous, blocking blood flow and sometimes leading to the death of tissues. Crotics ty Watch out! Make sure you know thatthe ‘two substances, protirombin and fibrinogen, are the inactive forms, Promeans, roughly, rst as in prototype. You nay have met ‘uypsinagen at GCSE and know that the agen suixmeans the Inactive form, Clot formation is stimulated when there is damage to a blood vessel. Damage exposes collagen fibres to which platelets (smal cells with no nucleus formed when a precursor cell fragments) attach, The platelets release a clotting factor called thromboplastin. In the presence of calcium ions and vitamin K, thromboplastin converts inactive prothrombin into active thrombin. This in turn conwerts the soluble fibrinogen into insoluble fibrin, which forms a network of fibres, trapping cells and debris to make a clot Atherosclerosis damage to increased risk of blood endothelial lining of dotting in the artery artery (e.g. by smoking, high blood pressure) I\ J inflammatory response whtebbod | a) cholesterol buites up, cals move into leading to formation raised blood the artery wall of aterome Crea pressure poe ‘ther later sclerosis (hardening! the plaque makes the wll become bullup of calcium less elastic and narrows theater. narrowing of salts and fibres leading artery to plaque formation The formation of an atheracertc plague isa positive feedback phenemenen cvD _ ea The rk of sutfering om CVD i Sap te mown fopart of coronary, sie sa genet facto ‘heart attack — * oge tae + sede oe ox + gh ood pase * lifestyle factors diet, exercise and smoking (See page 16 for more details) peridheravasclr disease - Thrombosis nsrowng of sere to periphery, especaly commen thelegs ‘The various types of cardiovascular esease CVD} all caused as 2 result of atherosclerosis _ Green Book 1.1,1.2 Orange Book 1.1Topic 1: Lifestyle, health and risk Treatment of CVD Risk of CVD can be reduced by lifestyle changes: * stopping smoking + moderate exercise several times a week * stopping over-consumption of alcohol dietary changes, especialy lowering cholesterel and saturated fat intake. Medical treatments which can help are * reducing high blood pressure (usually defined as over 160 (systlic100 (diastolic) by antihypertensives + reduction of blood cholesterol, €.g. by diet or by drugs such as statins + anticoagulants + platelet inhibitors. The table summarises some drugs used for treating CVD and the risks associated with their use, ed res re diuretics increase volume of urine, | very occasional dizziness, nausea, oereaiy (antinypertensve) lowers blood volume and | muscle cramps pressure You probably will not know enough shout what these vestments do to eta aber jock response of heay ossible ink with dlabetes Gniipetesse)[tosomecrandrae [nes kot hater ice contractions less frequent anc hear ere less powerful ACE inhibitors lack the production of ‘cough, dzaness, heart aryihia (antinypertensve) angiotensin (ACE stands impaired kidney function for angiotensin converting enzyme) which normally causes arterial constriction and 2 rise in blood pressure Gate Tower choleseralevalin the | muscle aches, nausea, constipation blood by blocking the ver | and diarthoea; very rarely enzyme that makes cholesterol | inflammation reactions ean occur which, even more rarely, are fatal ‘alo, again rarely liver fale; also, people may stop trying to eat a healthy die, leaving tall to the statins ‘anlicoagulanls, eg, [reduce rik of dot formation | vik of uncontoled Bleeding, dosage warfarin controls essential Enea platelet inhibitory | make platelets less sticky | asprin iitates the stomach ining {01 Use the outine fawehart drugs, 9, aspirin, and can cause serious stomach below to summarise the clopidogrel bleeding: wsing lop dogrel wth clotting process by substituting aspirin can make the risk even erection sore greater ‘description on page 12. PEt. i ‘QI List the factors which must be present in order for a blood clot to form. Q2_ Even if al the blood clotting chemicals you have listed in Q1 were present, c—+]s—o ‘this would not allow a clot to form. What else is needed, apart from a range of chemicals? E TT s TT 4 cot Green Book 1.1, 1.2 Orange Book 1.1 1B|: Lifestyle, Transport, Genes and Health Structure and function of carbohydrates Carbohydrates contain carbon, hydrogen and oxygen in the ratio (CH,0},. They are made (of saccharide units (literally sugar) ~ a prefix (mono, di, paly-) denotes how many units. ai lactose + ‘milk’ sugar So “coe pose Se ca: and f-glucose forms are covered on page 80. ‘The bonds that form between monosaccharides are glycosidic bonds. In the reaction that forms a glycosiaic band there isa lass of one molecule of water (called a condensation reaction). Hydrolysis breaks the alycosidic bond, adding back a molecule of water. Ths is catalysed by enzymes. Sr eT ce Donetuse the ward sugar without qualifying it In everyday English, sugars the disaccharide sucros Co) but seiontcaly ther ae many a en wpa sitfrent sugars. Make elear what A, A, no you mean ad J ya oa 0 zh] pomrer see conan eo tou Saccharides, whether dr poy we ww FRO are always joined together by ne t alyeosiic bonds oH oH Hycosis of matse by addition of wate and ” ones ‘0H condensation of we glucose Units to frm oy rose with os of tee Fo Thinking Task omen 1 Relate structure to function in slucose, suerose, amylose and Qt Lactose, sucrose and maltose are all disaccharides, how do they ciffer from amylopectin, each other? Green Book 1.3 Orange Book 1.3Topic 1: Lifestyle, health and risk Structure and function of lipids Lipids are biological molecules that are insoluble in water but soluble in organic solvents like ethanol. Triglycerides are lisids made of three fatty acids and one glycerol molecule joined via an ester bond, | ‘al ‘condensation reaccon| chon removes water rm between the ayeerl ana ty a8 sheet toferm an ester bond three esterbones ina righceride formed tom glyeetel and tive at 2cds ‘Tse ester bond form between the gijcerol and tre ft ace molecules. Each bond is formed in a ondenaton action in vhich 9 malecue of water i st. The rection i ctalied by an enzyme. coors ty ee Variation in triglycerides All glycerol molecules are the same. The fatty acids vary in * the length of the hydrocarbon chain, from eight or so to 20 carbons + the absence or presence, and number, of double bonds + the mix of fatty acids (ie. all three the same, al different or some other combination) Saturated and unsaturated fay acide dtr inthe amount of hydrogen. The saturation refers ‘tthe amount ofhydragen in the molecule. Two carbons can be joined by a double bond, but this means that fewer hydrogens can bind and thus the molecule is less saturated with hydrogen, (a) ResultsPlus Wo Mad LL, “TTTPT Tyr ‘Always check the number af bonds Aéaalrtpe wd ees no zor haonbe vlna Bm ‘the important biological elements: aaa carbon—4, exygen—2, hydrogen ~.nivogen—3 (©) AA saturated hytocerbon chain witha carbons bonded and maximum numberof hydogens B pointe aod wth such slg chan) An unstated hytkociron chan with ve crbons ened to-eoch othe, therefore fess than maximum number of hydrogens, B oleic acid with such a kinked chain on a Ty Examiner tip The difference in saturation has important effects on triglycerides * structure * physical properties « biological significance, Soeeahe rend et sbert ‘holesterel and maybe linkit in Perrys) Deere | ler! and svt Pare) Sorte fa) erates oer stongintermolelar ——|intemelecar bonds weaker intermolecular bonds weaker | | hydrocarbon chun re saturated bends because of kinked shape [because of kinked shape vathhytogen)Chlestrelis net slid ai room temperature | Taqud at room temperature [quid atroom temperature | | saturated fatbutitis mace inthe sragh commokce rok wih on reflec wth ve nchon | elomsauad sabres in cain c= no. of double bonds) cee SORT. Oren Sires Q1 What is the similarity between the formation of a glycosidic bond between. Q1 How many water molecules monosaccharides and that of an ester bond between glycerol and fatty ‘would it take to full hydrolyse acs? one igheeie os component 2 Whena tiahjcerde is broken apart by hydro, how many components fay aid and gear Egan ate FOU 2S NSE Nard a|: Lifestyle, Transport, Genes and Health Risk factors for cardiovascular disease Risk is the probability of the occurrence of an unwanted event or outcome. When formally assessing aris, itis usual to multiply the likelihood by the severity to give a k rating. We often under or overestimate risks. A perceived risk is based more on factors such {as interest and approval of the activity than on anything mathematical The risk of developing a health condition is determined from many studies, but people ‘often ignore the advice which is implied by these studies. For CVD, the factors which increase the actual risk of suffering are: Factor Examples ‘genetic [Tendency to high blood pressure and poor cholestrol metabolism. ‘Arteres that are more easily damages, Mutations in genes that affect relative HDLLDL levels in blood, {gender | Oestrogen gives women some protection fom CVDs before the menopause: Then the risk in both sexes is about the same. ‘ageing | Elasticity and width of arteries decrease with age. diet ‘Many correlations (inks) between dietary habits and level of VD, @) saturated fat, cholesterol and lipoprotein levels. Some evidence that these correlations are eausal, particulary for blood cholesterol levels Tigh blood | Very important ~ should not be sustained >140 mm Hg systolic and pressure | 80 mm Hg diastolic (expressed as 140/80). ‘snaking | Covelation and eausation shown because chemicals in smoke paysically Gamage artery linings and ako cause them to constrict. Tnacivty | Regular vigorous exercise reduces the risk of CVD by reducing blood pressure and raising HDL (good cholesterob levels ‘Obesity _| nereases risk of CVD and developing type I dabetes Ce pomret Correlation does netimply causation, This is one ofthe mostimportant facts you need to remember asa scientist S00 page 18). Why do we think high fat intake causes CVDs? Studies have shown a strong correlation between high intake of saturated fats and high blood cholesterol. Cholesterol helps form plagues; ths is the causal link ‘The cholesterol story is not simple. Cholesterol is a water-insoluble lipid. For transport, ithas to be carried by proteins in soluble complexes called lipoproteins, There are ‘wo kinds of lipoprotein: Low density lipoprotein rr Cerne) coer) formed rom saturated fas, proven, ‘formed rom unsaturated fs, rate, are éhalestere chotesteo ran Bind to cel srace receptor, which can anspor cholesterol from Body snus To Wer Become saturated leaving the LDUsin the |vhee tis broken dove “Good and‘bad' cholesterol arene | blot dierent eachatherchenicaly, | [asda wth formation of aheroceons | reduces Hod cholera aves, dcourages iis the way the colatral is atheros cease daeneeieeeiea Robe wanined sow vel “oul be mained a Fgh evel | DBD ceev2cccta 1a onrgetosenz 3: Lifestyle health and risk mT post conan » Becween ron (iood) hleterl and tt “ Gtathste *4ooa9yenalerbut totes Sartor 50-39 yearoles [20-3850 [150-59 Since LOL and ADL chalestero have oppose fects, the ratio of LL to ADL appears tobe a very ndicatr of cik fom CV, Seam eles tt) Etfectof total blood cholesterol on deaths rom coronary heat lease faminghar St Energy balance The energy you need in a day depends on your Basal Metabolic Rate (BMI) and level nent of activity, BM varies with gender, age and body mass, ironic ty Dor'tforgetto take your calelator Ste into exams, and always think carefully about units! Fred, a carpenter, weighs 70kg, The human basic energy requirement is 4kskg™ body mass hr energy intake JOT So Fred has a basic energy requirement Fred's eee 18001) breakfast Q1. Whats the cause ofthe His BMA is: 280 x 24 = 6720K3 day! 2500K/ lunch link between smoking ‘and CVD? Daily activity for an average carpenter 4000) supper Uses 5000K) 22000ki in drinks and snacks Az fii wevoms yee less ikely to suffer from }0300ki day" total CVD than men? Fred's total energy need per days 6720 + 5000 = 11720) Fred’s daly energy balance is: (reer 10300 - 11720 = -1420k) Simmer He is using more than he is consuming and wil lose weight. (01 LDL and HDL cholesterathave Bob, another carpenter, consumes 13 700kJday"!. Bob's daily balance is: occa ae eer teero Comment on the relationship Nae between the two and CHD risk So, he will put on weight and may become overweight or obese, using the following data Around 50% of the UK adult population is overweight, 20% are obese. Body Mass Index (BMI) is one obesity indicator used to define these conditions. I is given by: py = Pos mass inkg few ses © (height in m? <20 underwelght eae tae 70-25 |eored weht denwaioue For example, i weight = 70kg and eight = 175m. [Season 330 obese smi=—22. 7 - 22.9 1,75? 3.06|: Lifestyle, Transport, Genes and Health Population studies on risk factors Epidemiologists are scientists who carry out research to tty to determine the risk factors for health. There are two kinds of epidemiological study. Cohort studi Main features: * large number of people followed + long period of time + monitored to see if they develop the condition under study * those who develop the condition are put in one group and those who do not in another * various risk factors that subjects have been exposed to are looked at (by interviewing) * correlations searched for. For example, the ongoing Framingham study has involved thousands of participants from 1948 onwards. This study shows that age, total cholesterol and HDL, smoking and high blood pressure are the major risk factors for CVD. case-control studies Main features: * A group with the condition (cases) is compared with a group whe do not have it (control, + Past history is then investigated to try to identity factors leading to one group having the disease and the other not. + tis very important in this case to match the control group with the case group for such things as age and gender. + Thisis rather lke the classic experimental design where independent variables are controlled, There is no famous example from CVD research, but in the studies by Doll and Hill ‘on lung cancer, a group with lung cancer was compared with a group without. A, correlation with smoking was found, ore or TN cavers oting ny of ae wh and wut ng can the EC rs Remember you can have colton without causation (often) but never the reverse Th fact that wo variables are coved suggests there might be 3 casa ink not that there is one. To show causality, a mechanism by which one factor causes the lother needs to be proved, This may requite an experiment, PT eed Correlation does natimply causation, ‘A study showing a correlation between blood cholesterol and incidence of heart attacks in the UK gives a graph lice this: “ Bw Za Z Relaionship between blood cholesterol evel and death rom STs erase ar eaaweese CHD (coronary heat disease « ype Sera choleserlinmel da oF vp) However, this does not justify us in saying that high blood cholesterol causes CHD! I~ Green Book 1.4 Orange Book 1.3Topi What makes a ‘good’ study? The following are key features of a study which collects valid and reliable + The studied sample should be representative of the whole population, otherwise the sample could be biased. + Variables should be controlled as far as possible when selecting cohorts of control groups. This is one of the most difficult aspects ofthis kind of study since human beings are so variable in terms af genes and environment. Measurement techniques or the questions on a questionnaire must be standardised. + Sample size is very important. In many diseases, anly a low percentage of the population have the condition so an apparently large sample size might only contain a small number of individuals with the condition. SORTER mn 1 Compare cohort studies with case-control studies. Q2 List the key features of a good study used to determine health risk factors, {1 Look a the: in Franc invoWvedin CHD trom ather research Percentage oftotal ney intake froma (1989 ets) Dated France Kingdom nd above (2002 data) 1. United France Xirgdom ‘4 Why would you expect CHD rater in France tobe higher than those ata about the rate of CHD {coronary heart sease, an aspect of CVD} i the UK and some information about some ofthe key factors known tobe ‘Acohol consumption (2002 data) 2 @ Volume of pure United france Kinggom sease (898 at) 50. esthrate United France Kingdom the UK? bb Suggest why the French CHO rates are not what we would expect : Lifestyle health and risk mT ior ce Watch out! Valid data are data th accurately measure what they are supposed te, and do so every time, making the data rel jae Although ite not generally possible to experiment on people itis possible to select 4 sample carefully 0 asco ‘ensure that on-experimental variables, sueh as age and ‘0x, are matched so tis more ee wadivonal ontaled ‘xporimentin te aberatry.|: Lifestyle, Transport, Genes and Health Using scientific knowledge to reduce risk {lots now known about the effect of det, exercise and smoking on th risk of CVD, but many people do not change their style due to perception of risk, wich is atfected by: + own experience, which wil carry more weight than statisti: ‘my auntie smoked 20 a day until she was 90, and died falling downstairs; not from lung cancer!" + inabiity to assess risks wel, for example many beleve that smoking keeps weight down, but the relative risks of obesity and smoking are not considered + peer pressure — very powerful, for example in the case of alcohol consumption and smoking among young people + the idea that i something is destined to happen then it will and there not much cone can do about it + the emateness ofthe likely consequence ~a bag of chips now can give much pleasure and its easy to trade that off against the increased risk of a hear attack in 30 years! However, some progress is being made. The huge increase in the popularity of low cholesterallow fat spreads, the fallin incidence of smoking and the rise in the popularity of gyms and other health clubs all attest to this. = « x * ° 28 8 8 ¢ 3 2 8 ver Incidence of smoking in ove 165 inthe UK, 1948-2007 Vitamin C Antioxidants, found in fresh fruit and vegetables, are important in neutralising free radicals which can damage cells including those in the cardiovascular system, One ‘wel-known antioxidant is ascorbic acid (vitamin C). Heat treatment may destroy some cr all of the vitamin C, so cooking can reduce the health value of a food. Vitamin C content is easy to find out with a simple practical procedure based on the following: * Antioxidants are reducing agents as they lose electrons. Many substances will change colour when they are reduced; these substances are ‘called REDOX dyes (teduction-oxidation dyes). + DCPPis a blue dye in its non-reduced form; it goes colourless when it gains electrons. SBOE 1 Calbrate the DCPIP — add a measured volume of a known concentration of vitamin C solution to the DCP, Assume it took 0.6cm? of a 1% vitamin C solution to decolourise the DCI. + Ina 1% vitamin C solution, there is 1 100m vitamin C in tome. * In0.6cm? of the solution, there are 6 mg of vitamin C. so there are 10mg of ~_ Green Book 1.4 Orange Book 1.3, 1.4: Lifestyle health and risk mT SAREE 2 Add the unknown solution drop by drop to the DCPI until it has gone colourless. prerere ere eee renee) Srenieraey grapetrutt juice 161 pineapple ice 1155 orange juice 212 orange drink 1a Tesh lemon juice A Doilled lemon jae 20 The vitamin C content of the grapefruit juice is worked out lke this: {mg vitamin C decolourised 1 Becaial 2 wens te {eyatyping DNA analysis * PIGD (preimplantation genetic cisgnoss). Embryos ceated through in vitro ferilsation (UF) are tested to see if they cary the faulty allel, only those which do ‘tare impanted into the woman This method has the disadvantage that VF is expensive and quite unreliable. Making the right decision “There is no right decision on what t0 do about passing on a genetic disorder ~ different peaple have diferent attitudes. Ethical frameworks can help us to make the best decision. «Rights and duties - Most people believe humans have rights ta various basic things, and also that others have a duty to give them their ight. + Maximising the good (utiltarinism) ~ This 's@ simple approach to fein which nothing is fundamentally wrong or right, out depends on the circumstances, The deciding principle is which action would lead to the most good ~ therelore the least bia (but, notice, not bad") would be favoured ‘+ Making decisions for yourself The ides of signing a consent form before an Cneratton stems from the belief that we can and should make our own decisions. * Leading a vituous life ~Tradiilonally, there are seven virtues: justice, wisdom, Never make vague, unsupported Statemonis in an examination such as This wrong to play Ged. courage, faith, hope, charity and moderation inal things xan questions may eect joe Answers tht roforto & ange ot Factors to be considered when deciding what is ‘bes in relation to screening are Carpets + Fisk of miscarriage or harm to fetus * ight to life of the fetus * abortion in the event of a positive diagnosis the cost of bringing up a baby that is “disabled” Air + mental ancl emational sues surrounding the birth of a ‘disabled’ baby. i List vee diendveniages of + being prepared for a baby born with CF or other genetic disorder Gets 162) ouick Questions 8 (ay what argumont you would put fread io ether justiy QI What dove PIGD and CVS stand for? Pete eee tomhan you knw yu and your Q2_ Name two vectors for putting genes into human cels. pertner re both eariers of CF Green Book 2.4 Orange Book 2.7, 2.8 Fos |Unit 1: Lifestyle, Transport, Genes and Health Topic 2 - Genes and health checklist By the end af this topic you should be able to: ne ee oe) Soucureat | Deseibe he srucre of anna ais and er eetekaned ens eeepc and proteins | of protein determines is heee-dmersona [laches \ rape |B he macho of con ad | 108 | ea o felon and | speatey in terms ssc eplln | | ano | levtmneswaccas eodaleamhes. | | maniion: Describe how enzyme concentration affects o o Hii hel aa fom paca a ‘Membrane Explain how the fluid masaic model of | structure | membranes s supported by evidence, O o Tensport | Bela osons. ac) ol A eens oO scoscel_ Fon pasie rapor fisonand | 14 o a feat atfson, ace arspo,eods- | Sater | | | Describe the investigation of the effect of - 101, LOS. temperature or alcohol on permeability of oO a Pin a eres (ne oC Dieser he popes fps exchange 1 Oo a ace patrythe secure of be Rateuiaray Structure Describe the nature and role of a gene. 113 T= Dl ipa oO orn ra a a ni Deate tn maar inoewe| | 10T0 a o and how they bond to form DNA (including | Decne eeu edns | | wa Des DNA recon andthe evkence tor | TOT o Oo feaciien «| tov enctanane | and protein |“Qutine protein synthesis, induding Toe cena symthess transcription, translation, and the roles of RNA o | o bea nina ; Gee; Entinton eros DIR aon gia | UOTE 1 o o mutations | meta mutalon such as tha cusing ti | and cystic ‘fibrosis, \ | | tress” | Sghinton te opresionafageremuiaton | 11 | in people with cystic Rbrosis impairs function of ao | Oo | the gos enchage gesve and reproductive | | (ane Tee | mua o neat eit | Coie Oo 5 | inheritance: used to describe aspects of monohybrid inettance ard mere pede digo. : T-Ganei — Cee gene rap and dstinqushBetween-| TOTS Oo Oo soeerng. | Somaicand getm bn hemp | andgene | Esl the se of pene sceening, and | 1019 ae therapy | gacuss the implications of prenatal genetic 0 a tees | Discuss social ond ethical sues associated with | L020 | Siicawatatanaamonieesss | o Qo | espe rl aft Topic 2: Genes and health octet Ceca 1 Cystic vos x cause by mutation na gene coding iodo digest tar fond Food dgosticn tla pace ulog anaynes aw snl testing Io aystcfiosis pars these enrmes are eth musing rhe it rot uch often, This is because the ue fom te pares that aes he ens is Blokes with mis your bnomledge reason tes paca The chenllrie ates the ete sit oft anzyme which is cesgied wi phowalnne aly The encyme then cats leantdot misselira) te reacton by edutng te aevation onary raquired tulip no tyrosine mmemrane proton. Exam wy aco ste aE! ‘Always lookat the ramber of als vale and the murber of lins given forthe enswer You do nat net fil tenes, Sut You eoraod to male encuth pts orth mers adhere are& a 10 nes, lor your arewer wil ned to be substance ‘This nswer makes Wo god ons, ane about rays being in hort sunny and oe about is beng suet ares Hace in ‘he pancreatic dict Ferd mers twouk need to ado somsthg about wy avrg frenzy eats wo 2 problem wih gestion nix hy the duct hase ras Seckage nC pati IMA baste answer oul isis the lak of env from the pareres or blechage othe dt (A Av eveelent answer vould mention th abo and acimat fore mucus blckage in tore of is tkiese, sa ue toe doce rere 0 CFTR leading ta ein of hid ans leaving toe. alo mht go one tal toute on runter of enzyesieacing w far active sits bind with substrates {peteins.polpepties, pds end st, 2. The exe phervlalonne hydowieso comore ite sutstate, cheng, int tn rod, tyrosine sing the irermaton shown inthe saya and the mechaniom ofan of enzymes, unos how tis oe e wi [@) 90 roe wen sheng rina The srxture ofthe R-aroup of phenplaine and sine Tis quaston incu a specie eraye ae is strato whit you Rave ntl about The ik shal you vse vat ou do brew about eye ation inthis ovens. Ths wl basil that wil be teste rent ‘Ths answer makes ony topo’ fora eal qestion gas 3 forte ideo ofthe oenylarine ng ito Ue atv site and ne fr the das of Loven activation ene. Basie answer vou metho ea of eat site a the substate iting ent bt woul nly get he markt was wrton in teme of phanlalanine ad re scife ane would ‘mais no use ofthe diagram as asked forin the question ‘APs excellent answer wuld discuss he farnat of an enryne=sbstatecomlacberween phony and thon/aenne pera, goon ak stot fess on ativan teneigy or about bards bing broke relate histo te sect teoctonecton of 0:0 he prying Rou and sey that the proc yen isthe leased om he aie site Dona. it canolonger bind tot vig cheng,: Lifestyle Transport, Genes and Heath Practice questions 1 (a) The diagram below shows a nucleotide with a nitragenous base found in RNA but not DNA, (Name the molecules labelled €, F and G. @ i) Name the part of the cell where RNA nucleotides are combined to form strands of messenger RNA (mRNA). a {(b) The table below shows which amino acids are coded for by diferent codons (on mRNA. fo ro (The letters below represent a section of mRNA coding for the enzyme NE polymerase. Using the table, ge the amino acid sequence coded for by this mRNA sequence. UACGUGGAAAGA @ Ai). Name the process that converts the mRNA sequence into a sequence of amino acids. q Gi) one body cella mutation occurs that changes the third base, cjtsine, into guanine in this sequence of mRNA, Describe and suggest the potential effect this mutation could have on the protein (RNA polymer produced. (SNAB, 6131, AS Jun 2007,2 (a) The diagram below shows a model of the cell membrane and various ‘molecules being transported through the membrane into the cel ee se ani Pay Rx uaa avant Abad ght APBa Ax Aaa Ada @ Name the structures labelled x, ¥ and z 8 Gi) Name the transport process across the membrane shown by the different molecules and their arrows P Q and R. @ (6) Cystic fibrosis is caused by 2 mutation in a gene coding for a membrane protein. Explain vrhy people suffering from cystic fibross find it dificult to digest their food @ (SNAB, 6131, AS Jun 2007, Qa) 3 Achondroplasia is an inherited form of restricted growth in humans causes by a dominant alee Individuals homozygous for the allele for achoncoplesia ere rarely born ave (@) Selecting suitable letters to represent the alles, draw a genetic diagram to calculate the probability of a child inheriting achondroplssa ifthe mother heterozygous for achondroplasia and the fether es norival growth. (3) (©) Two people who both have achondroplasia would like to have children. together but they ae concerned about the rik of ther chi innerting two achendropiasia alleles and dying before birth. Name one method that could be used to obtain material suitable for use in a prenatal genetic sreening program. c) (SNAB, 6137, AS Jun 2007, Q6) 4 One airn of gene therapy is to help overcome the effects of defective genes. A treatment for cystic fibrosis may become available in which copies of a functional gene are ericiosed in small particles that can be sprayed into the lungs. The genes may enter the cells lining the lung and enable the cells to function normally. (2) Exolain how gene therapy could enable cel lining the lung to function normally in cystic fibrosis sufferers. a (SNAB June 2005, AS Qa) (B) Fa couple have a child with cystic fibrosis, tate the probability that a second child would unaffected w (9) What typeof medica test could be offered to these parents if they were considering a second chid? wo (SNAB January 2006, AS 92 (modified)Unit 1: Lifestyle, Transport, Genes and Health Unit 1 Specimen paper 1 Read through the following passage that describes the process of blood cioting, thea choose the most appropriate word or words to complete the passage where there ae letters AA blood cot may form when a blood vessel wall Becomes damaged. Cell fragments Called (A) stick to the wall of the damaged blood vessel forming a plug. A series of chemical changes occur in the blood, resulting in () being converted into thrombin. Thrombin isan (C) that catalyses the conversion of (0) into long insoluble strands of (6), These strands form @ mesh that trap (F to form the clot ©) Total 6 marks (AS, 68103, Jan 2009, 01) 2. Transcription and translation are two main stages in protein syathesis (@) Copy and complete the table below by writing the word transcription or translation next tothe appropriate statement about protein syrthesis. (8) ribosomes are invoWved [DNA acts asa template | {RNA is imvolved | opie bonds are made THRNA is made (b) ‘The table below shows some amino acids and their corresponding ONA triplet ‘codons. The DNA triplet codans for a stop signal are also shown. Coe ‘tn pee GGT GGG GGA alanine - [€GG CGA CGT CGC ie amar AGG AGA a ro a [GAA GAG GAT Gac arginine a GCA GCG GCI GCE | chtarine arr ee | ‘glycine CRG CACO™~*S | theonine GC TGA TET TSG sop sgn AT ATC ACT | The diagram below shows part of a DNA molecule. KEAETTACACEEGCTOOG (Write down the name of the amino acid that is coded for by codon 85, (1) (i). Wiite down the leter of the sequence of amino acids found in the polypeptide chain that is coded for by this part of the DMA strand, A gysteine glutamine eysteine arginine proline proline B threonine leucine threonine alanine lvcine glycine © gpteine glutamine qjsteine arginine glycine glycine D gpteine proline gsteine arginine proline proline a (ii) if codon 89 coded for the last amino acid in the polypeptide chain, wich letter wes codon 90? AGGG BATC CTAG D AGT io)(Gv) Ywite down the fete ofthe sequence of bases on a molecule of messenger RNA (mf NA) synthesised from this part of the DNA rolecule A ACACTTACAGCCGGTGGG B TGTGAATGTCGGCCACCE € UGUGAAUGUCGGCCACCE D AGACUUAGACGGCCUGGS o (¥) White down the letter ofthe statement that best describes what the polypeptide chain would be ike if the 90th codon was ACT and the 91st codon wes CTT on the DNA molecule. A The polypeptide chain would be no more than 89 amino adios long. The 89th amino acid would be threonine and the S0th amino acid would be leucine, The polypeptide chain would be more than 90 amino acids long D The polypeptide chain would de more than 91 amino acidsong. (1) Total 10 marks (AS, 68103, Jan 2009, 02) 3. The diagram below represents the structure of the cell surface membrane, Sng (@) Explain why the phospholipid molecules form a bilayer. @ (bp) A student carried out an experiment to investigate the effect of alcohol concentration on the permeability of beetioot membranes. Beetiools are root vegetables that appear red because the vacuoles in their cells contain a water: soluble red pigment. This pigment cennot pass through membranes. Eight pieces of beetroot were cut, One piece of beetroot was placed into 2 ‘tube containing 15cm? of water and left for 15 minutes. The procedure was repeated for seven different concentrations of ethanol After 15 minutes, each piece of beetroot was rerioved {rom the tubes and a sample of the fluid removed and placed in a colorimeter. The colorimeter was used to determine the intensity of red coloration of the fluid. The results of the investigation are shown in the graph below. as: Intensity a red © w 7030 0 0 70 ‘cancontration of ethan (8) (Suggest two variables, other than those stated above, which should be kept constant during this exoeriment. @ ) There was some red coloration in the tube containing only water. Suggest an explanation for this, @ Descibe what the student should have done to reduce the red coloration in the tube containing only water. ®