Surface Area: Volume ratio

Big organisms - much smaller surface to volume ratio so there is not enough surface to serve the needs of the large volume inside by diffusion Lungs to increase surface area for exchange Mass transport system (e.g. heart and circulation) to move exchanged materials around the body In smaller unicellular organisms, substances move around slowly by diffusion (open circulatory system) Diffusion is too slow to move substances around the larger bodies of multicellular organisms Circulatory system: the substances are carried in blood pumped by a heart Closed circulatory system: blood is enclosed in narrow blood vessels, which increases efficiency, as blood travels faster as a higher pressure is generated Single circulatory system (e.g. fish): heart pumps blood to gills for gas exchange and then, to tissues and back to the heart Double circulatory system (e.g. birds and mammals) allows blood to travel around the bodies faster, delivering nutrients faster, so animals have a higher metabolic rate Overcomes the limitations of diffusion Blood needs to be pumped a long way around the body at high pressure Blood is pumped at lower pressure to the lungs, as it reduces risk of damage to lungs and allows more efficient exchange of gases Circulation provides oxygen and removes carbon dioxide Circulation helps the regulation of body temperature

The Flow of the Blood

1. Blood returns to the heart through the pulmonary vein from lungs and it drains into the left atrium 2. Raising of the blood pressure in the left atrium forces the left atrio-ventricular valve open 3. Contraction of the left atrial muscle (left atrial systole) forces more blood through the valve 4. As soon as left atrial systole is over, the left ventricular muscles start to contract (left ventricular systole). This forces the left atrio-ventricular valve closed and opens the semilunar valve, which is the valve in the mouth of the aorta. 5. Blood then leaves the left ventricle along the aorta, which goes around the body. 6. Blood returns to the heart through the vena cava 7. Raising of the blood pressure in the right atrium forces the right atrio-ventricular valve open 8. Contraction of the right atrial muscle (right atrial systole) forces more blood through the valve 9. As soon as right atrial systole is over, the right ventricular muscles start to contract (right ventricular systole). This forces the right atrial-ventricular valve closed and opens the semilunar valve, which is the valve in the mouth of the pulmonary artery 10. Blood then leaves the right ventricle along the pulmonary artery, which goes to the lungs

Cardiac Cycle
1. Right ventricular diastole / Left atrial systole

2. Left atrial diastole/ Left ventricular systole 3. Left ventricular diastole / Right atrial systole 4. Right atrial diastole/ Right ventricular systole In diastole/atrial systole, the AV valves are open and the SL valves are closed During atrial systole, the atria are contracting and the ventricles are relaxed During ventricular systole, the ventricles are contracting and the atria are relaxed During diastole, both are relaxed

Structure of the Heart

Left ventricle is thicker because it has to pump blood all around the body, whereas the right ventricles only need to pump blood to the lungs, which are nearby Ventricles have thicker wall than the atria, because they have to pump blood out of the heart, whereas the atria just need to pump blood a short distance into the ventricle The atrio-ventricular valves link the atria to the ventricles and stop blood flowing back into the atria when the ventricles contract The semi-lunar valves link the ventricles to the pulmonary artery and aorta, and stop blood flowing back into the heart into the heart after the ventricles contract The cords attach the ventricular valves to the ventricles to stop them being forced up into the atria when the ventricles contract

4 chambers Left and right are separate because the deoxygenated and oxygenated blood needs to be separate Left has higher pressure, as left pumps blood around the body, whereas right only pumps blood to the lungs Left also has a lot of muscle contraction Cardiac muscle Valves separate atria from ventricles AV valves are open during atrial systole, so blood can pass through to ventricles AV valves are closed during ventricular systole, to prevent backflow AV valves are open during systole, so ventricles can start to fill up, as atria are filling

Arteries, Veins and Capillaries

Vessel
Artery

Structure
Thick wall Smooth muscle Elastic fibres

Functional Significance
Withstands high blood pressure Alters diameter of lumen to vary blood flow Allows walls to stretch when blood is pumped into the artery and then recoil, smoothing blood flow

Lined with smooth layer of endothelial cells Narrow lumen

Low friction surface to ease blood flow

Vein

Relatively thin wall Very little smooth muscles or elastic fibres Wide lumen Valves Very thin wall - one cell thick

Blood under low pressure No pulse of blood so no stretching and recoiling Large volume acts as blood reservoir Stops backflow Allows rapid exchange between blood and tissues

Capillaries

Arteries and vein contain collagen: a tough, fibrous protein to make them tough and durable The artery wall stretches, as blood is pumped in and recoils, as the heart relaxes Blood flow is continual and there is a pulse Contracting muscles and low pressure in the chest when breathing in, assist blood flow in veins There is no pulse and pressure is low

Estimating Risk
Risk - the probability of the occurrence of an unwanted event or outcome We underestimate or overestimate the risk (perceived risk), due to interest or approval of the activity

Risk factors of CVDs and CHDs

Factors
Genetic Gender * male

Examples
Tendency to high blood pressure and poor cholesterol metabolism Arteries that are easily damaged Mutations in gene that affect relative HDL:LDL levels in blood Oestrogen gives women some protection before menopause Afterwards, the risk is about the same Elasticity of arteries decreases with age Width of arteries also decrease with age Many correlations between dietary habits and level of CVD (e.g. saturated fats, cholesterol and lipoprotein levels) Should not be sustained more than 140 mm Hg systolic and 90 mm Hg diastolic (140/90) Correlation and causation shown because chemicals in smoke physically damages artery linings and also cause them to constrict Regular vigorous exercise reduces the risk of CVD by reducing blood pressure

Ageing * increasing age

Diet * high saturated fats and sodium and alcohol High Blood Pressure * cholesterol builds up on artery wall - atherosclerosis Smoking

Inactivity

Obesity

and increasing HDL (good cholesterol) levels Increases the risk of CVD and developing type II diabetes

High salts levels cause the kidneys to retain water, increasing blood pressure Carbon monoxide prevents haemoglobin from carrying sufficient oxygen - heart rate increases Nicotine stimulate adrenaline release, increasing heart rate and blood pressure Chemicals damage endothelium triggering atherosclerosis Decreased levels of HDLs Stress leads to increased blood pressure, poor diet and increased alcohol consumption Alcohol raises blood pressure, contributes to obesity and causes irregular heartbeat, as well as increasing levels of LDLs and moderate amounts may increase levels of HDLs Carbohydrates provide energy Excess carbohydrates are converted to fat If energy input is greater than energy output, weight will be gained

Reducing these risks

Stop smoking Moderate exercise several times as week Stopping over-consumption of alcohol Dietary changes, especially lowering cholesterol and saturated fat intake

Atherosclerosis: hardening of the arteries, which leads to less elasticity and

narrows the arteries, due to formation of plaque 1. Damage to endothelial lining of the artery (e.g. by smoking or high blood pressure) 2. Inflammatory response, as white blood cells move into the artery wall 3. Cholesterol builds up, leading to the formation of atheroma 4. Build-up of calcium salts and fibres leading to plaque formation 5. Narrowing of artery / loss of elasticity of artery 6. Raised blood pressure 7. More damage to the endothelial lining of artery 8. Increased risk of blood clotting in the artery Self-perpetuating

Cholesterol
Low Density Lipoprotein (LDL) - Bad Cholesterol
Formed from saturated fats, protein, cholesterol Bind to cell surface receptors, which can become saturated leaving the LDLs and cholesterol in the blood Associated with formation of atherosclerosis

High Density Lipoprotein (HDL) Good Cholesterol

Formed from unsaturated fats, more protein, cholesterol Transport cholesterol from body tissues to liver where it is broken down Reduces blood cholesterol levels, discourages

Should be maintained at a low level

athero Should be maintained at a high level

Stroke: Blood supply to part of the brain is cut off Heart Attack: Blockage of coronary vessels Angina: Narrowing of coronary blood vessels How a clot forms - minimizes blood loss, help prevent entry of pathogens and repairs
1. 2. 3. 4. Damage to a blood vessel Exposes collagen fibres Platelets attach to it Platelets release a clotting factor called thromboplastin, which is an enzyme (catalyst) 5. In the presence of calcium ions and vitamin K, thromboplastin converts inactive prothrombin into active thrombin 6. This in turn, converts the soluble fibrinogen into insoluble fibrin, which forms a network of fibres and traps blood cells and platelets and debris to make a clot Cocaine - results in platelets sticking to the endothelium, which releases thromboplastin and the blood clotting process is triggered and more fibrinogen results in making the clot larger

Treatments for CVDs

Drug Treatment
Diuretics (antihypertensive) Beta Blockers (antihypertensive) ACE -Angiotensin Converting Enzyme Inhibiters (antihypertensive) Statins

Mode of Action
Increases volume of urine and lowers blood volume and pressure Blocks response of heart to hormones and makes contractions less frequent and less powerful Blocks the productions of angiotensin which normally causes arterial constriction and a rise in blood pressure Lower cholesterol level in the blood by blocking the liver enzyme that makes cholesterol Reduce total cholesterol levels inhibit cholesterol synthesis More LDL receptors on liver cells, so more LDLs will be cleared from the blood Reduces risk of clot formation

Risks/Side Effects
Dizziness Nausea Muscle cramps Possible link to diabetes Cough Dizziness Heart arrhythmia Muscle aches* Nausea Constipation and diarrhoea* Stops controlling diet Rarely: Inflammation Liver failure*

Anticoagulants e.g. warfarin Platelet inhibitory drugs e.g. aspirin, clopidogrel

Makes platelets less sticky

Uncontrolled bleeding Dosage control essential Aspirin irritates the stomach lining serious stomach

bleeding Using clopidogrel with aspirin, increases the risk

Risks of antihypertensives: cough, frequent urination, BP too low, tiredness and irregular heart beat

Water: Medium of transport in all living things - excellent solvent

Has an uneven charge distribution, as the oxygen is + and the hydrogen is (dipolar) Ionic substances dissolve easily, as the ions are separated, due to the dipolar nature of the water Glucose and Amino acids are also polar, due to groups, therefore dissolve easily Hydrogen bonds from between molecules due their dipole nature, holding them together - water is a liquid at room temperature, and CO2 is a gas Hydrogen bonding creates cohesion - it takes a long time to heat the water and to cool the water and therefore does not affect living organisms, as temperature fluctuations are small

Water is found in the cytoplasm

Carbohydrates
Monosaccharides - single saccharides (CnH2nOn) Glucose Galactose Main Soluble, substrate for osmotic respiration effect Soluble, osmotic effect Fructose 'Fruit sugar' Soluble, osmotic effect

Disaccharides - two saccharides: glycosidic bonds, broken by hydrolysis and made by condensation (CnH2n-2On-1) Sucrose Glucose + Fructose Main transport for sugar in plants Soluble Lactose Glucose + Galactose 'Milk sugar' Soluble Maltose Glucose + Glucose Soluble

Polysaccharides unbranched Amylose - 1-4 glycosidic bonds Found in starch - energy storage molecule in plants glucose molecules in tight spirals (compact) and good for storage, as you can fit more into a small space

Coiled Unbranched Straight chain Insoluble, no osmotic effect Starch - 25% amylose and 75% amylopectin A mixture of two polysaccharides of glucose: amylose and amylopectin Energy storage molecule in plants Easily hydrolysed Compact structure More glucose in a smaller space Insoluble

Polysaccharides branched Amylopectin - 1-4 and 1-6 glycosidic bonds Found in starch - energy storage molecule in plants Terminal ends so digested rapidly than amylose, as it allows enzymes to break it down quicker, so that the glucose can be released quickly Insoluble, no osmotic effect Glycogen - 1-4 and 1-6 glycosidic bonds glucose Energy storage molecule in animals, bacteria and fungi Easily and quickly hydrolysed Branched chains of glucose molecules Compact, insoluble, no osmotic effect More glucose in a smaller space

Lipids - biological molecules that are insoluble in water but soluble in organic
solvents like ethanol (chol) Contains carbon, hydrogen and oxygen Provide twice as much energy as carbohydrates and supply the body with fatty acids Lipases break ester bonds Low pH Triglycerides - lipids made of three fatty acids and one glycerol molecule joined via an ester bond, and made by condensation Variation: Length of the hydrocarbon chain The absence or presence, and number of double bonds The mix of fatty acids Products formed from the breakdown of triglycerides are fatty acids and glycerol Saturated- more hydrogen as there are less double bonds Unsaturated -less hydrogen as there are more double bonds Unsaturated lipids: double bonds between carbon atoms and carbon and oxygen atoms

Saturated (fats)
Strong intermolecular bonds Solid at room temp Straight chain molecule

Monounsaturated (one double bond) (oil)

Weaker bonds weaker because of kinked shape Liquid at room temp Molecule with one kink in chain
Status underwei ght correct weight overweigh t obese

Polyunsaturated (more than one double bond) (oils)

Weaker bonds weaker because of kinked shape Liquid at room temp Molecule with x kinks in chain

BMI <20 20-25 25.130 >30

Energy Budget

BMI:

Analysis of Data
General trend (it increases/decreases overall) Find differences (A is higher than B in this instance, whereas at this point, B is higher) Manipulate the figures (use the figures and come to some kind of conclusion)

Evaluating studies
Cohort Studies Large number of people followed Longitudinal (over a long period of time) Monitored to see if they develop the condition during study Those who develop it are put in one group and those who dont are put in another Various risk factors that subjects have been exposed to are looked What makes a good study? Valid data Reliable data Sample should be representative at (by interviewing) and correlations are searched for Case-control studies A group with the condition (cases) A group with those who dont have the condition (control) The groups are compared Past history is investigated to find the factor that leads them to having the condition or not The groups must be similar (age, gender), to compare properly Variables should be controlled as far as possible Sample size must be fairly large or proportionate

Correlation: a link between two factors, whereas causal relationship: one factor causes the other

 Needs to be valid for all data

Structure of amino acids and protein

Proteins- polymers made of many similar molecules (amino acids) joined together in long chains Globular protein: complex tertiary, and sometimes quaternary structure (e.g. enzymes, membrane proteins, antibiotics) Fibrous protein: little or no tertiary structure and parallel polypeptide chains are cross-linked to form fibres (e.g. keratin, collagen)

Central Carbon atom Amino group (H2N) Carboxylic group (COOH) Hydrogen Atom A variable group (R) which can represent one of 20 different side chains

Primary Structure - sequence of amino acids in the polypeptide chain Amino acids are able to join to other amino acids to form chains using peptide bonds, which are formed in an enzyme-catalysed condensation reaction: Dipeptide - two amino acids bonded together Polypeptide - chain of many amino acids Joined by peptide bonds Amino acids involved in reactions Shape of active site is determined by position of amino acids Primary structure determines folding Correct shape for substrate to bind to Bond is determined by position of amino acids Type of bond is determined by type of amino acids

Secondary structure Hydrogen bonds form inbetween the negatively charged CO (carboxylic group) and the positively charged NH (amino group), which hold together: A helical structure ( helix) Sheet made up of polypeptides laid out parallel to each other ( pleated sheet) Tertiary Structure Further folding forms a 3-D shape held together by bonds between R side chains and hydrophobic/hydrophillic interactions, which include: Hydrogen bonds Ionic bonds between ionised R groups covalent bonds, such as: those between sulphur groups in cysteine called a disulfide bridge Polar interactions - groups that are water-loving (hydrophilic or polar) arrange themselves on the outside of the protein and those that are water-hating (hydrophobic or non-polar) are on the inside. Quaternary structure - two or more polypeptides held together by hydrogen bonds (e.g. haemoglobin)

Enzyme action
Catalysts: substances that speed up reactions; without them, every chemical reaction in living things will proceed far too slowly Enzymes (globular proteins): biological catalysts that speed up reactions both intracellular, which include those involved in protein synthesis, such as: peptide bond formation and extracellular, which include: digestion, and decomposition by bacteria

Each enzyme has a specific 3-D shape including an active site Only molecules with a specific shape (the substrate) fit into the active site This is known as lock and key hypothesis, the alternative is the induced fit theory, where the substrate may induce the enzyme into the right shape

Globular proteins have bonds between R groups, active site, which is specific to certain substrate Biological catalysts are produced by organisms and cells to speed up rate of reations 1. Random movement causes the enzyme and the substrate to collide and the substrate enters the active site 2. Enzyme-substrate complex forms, as charged groups attract, distorting the substrate and aiding bond breakage or formation 3. Products are released from the active site leaving the enzyme unchanged and ready to accept another substrate molecule To start a reaction, bonds need to be broken and this can be done by: adding heat energy adding a catalyst Enzymes lower the activation energy (energy needed for reaction to occur, by causing bonds to break by increasing number of collisions) by assisting the breaking or making of bonds as charged groups in the active site interact and distort the shape of the substrate creating a pH within the active site which makes the reaction more likely

Rate of reaction
Enzyme-catalysed reactions are very fast: The rate of reaction slows down as the substrate is used up To measure the initial rate of reaction, graph the results and measure the slope of the line before it becomes non-linear Repeat the reactions with other enzyme concentration to give initial rate for reach concentration Plotting these results gives a graph showing effect of enzyme concentration on initial reaction rate pH - buffer temp - water bath

 volume of enzyme - measuring cylinder or pipette time of reaction - stopwatch Substrate concentration should be constant Substrate concentration decreases, as substrate gets used up There should be enough substrate molecules to saturate the enzyme, to ensure that the substrate will not be a limiting factor

Cell Membranes - partially permeable membrane surrounding the cell to control

the movement of substances into and out of the cell, helps to glue one cell to another and acts a receptor surface for such things, such as: hormones Phospholipids have a phosphate head, two fatty acids and ester bonds

Fact to explain Phospholipids have a hydrophilic head and a hydrophobic tail (like triglycerides) Phospholipids, when suspended in water, naturally form bilayers, which consists of the hydrophobic tails on the inside and the hydrophilic heads on the outside Experiment on total area of a monolayer film of phospholipids which are extracted from cells is twice as large as the cell's surface area In electron microscope images of cell surfaces, proteins can be seen sticking out When lectins, which only react with carbohydrates, are added to a membrane, they are found only on the outside Some water-soluble substances pass into and out of cells Ionic and polar molecules do not pass easily through membranes, but lipid-soluble substances do

Implications for the model Creates two different response to water Suggests a phospholipid bilayer

Supports the bilayer model

Proteins are not in continuous sheet on membrane surfaces, but form a mosaic amongst the lipids Carbohydrates found only on the outside of the membrane Suggests proteins in membrane act as channels for movement in and out Membranes are made mainly of lipids

Orientation of molecules in relation to water: heads towards water to interact with polar environment and tails away from the water There is a polar environment on both sides (cytoplasm and tissue fluid) Accepted model: the 'Fluid mosaic model' which explains all the facts in the table Phospholipids form a continuous bilayer It is 'fluid' because the phospholipids are constantly moving

It is 'mosaic' because protein molecules are scattered through the bilayer and it can also move around, due to the fluidity of the phospholipid bilayer Some protein have a polysaccharide (carbohydrate) chain attached to it, called glycoproteins Some lipids have a polysaccharide chain attached to it, called glycolipids Cholesterol, which is a type of lipid is also present in the membrane and it fits in between the phospholipid forming bonds with them, thus making the membrane more rigid

Transport across cell membranes

Diffusion Small and/or non-polar lipid soluble molecules (e.g. oxygen, carbon dioxide) Directly through the phospholipid bilayer Passive - no energy needed Net movement down concentration gradient Facilitated diffusion Polar molecules, charged, and water soluble groups Requires a channel protein in the membrane Passive - no energy needed Net movement down the concentration gradient

Facilitated diffusion: Protein as channels, can open and close for polar molecules to pass through, down the concentration gradient Osmosis Active transport Water molecules All kinds of molecules possible Through a partially permeable Through carrier proteins membrane Passive - no energy needed Active - needs energy from the breakdown of ATP Net movement of free water Up a concentration gradient molecules from a solution with lower solute concentration to a solution with a higher solute concentration Molecules binds to carrier protein, which changes shape and it moves against the concentration gradient Exocytosis and Endocytosis Large particles of all kinds Bulk transport involving vesicles made from cell surface membrane in endocytosis and fusing with the cell surface membrane in exocytosis

Gas Exchange
Factors that increases diffusion of gases Large surface area Thin gas exchange surface Concentration gradient Adaptation of lung Many alveoli give a huge surface Very thin - just one flattened epithelial cell in thickness - reducing the distance for diffusion Well supplied with constantly circulated blood which carries oxygen away and

carbon dioxide to the surface; breathing keeps the oxygen concentration high and the carbon dioxide concentration low

Structure of a nucleotide
Phosphate group A base: Adenine (A), Thymine (T), guanine (G), Cytosine (C) and Uracil (U) for RNA A sugar: deoxyribose in DNA and ribose in RNA They are joined together in condensation reactions with the loss of water, the phosphate joins to Carbon 5 of the sugar and the base joins to Carbon 1 RNA: a single strand of nucleotides DNA Two separate strands are held together by hydrogen bonds These strands wind around each other in a double helix Complementary base pairing happens (A-T and C-G) Size: A and G are large 2-ring molecules, whereas C and T are smaller 1ring molecules, so one large base pairs with a smaller base, so that the width of the base pair will always be the same Hydrogen bonding: due to the shape of the molecule, two H bonds form between A and T, whereas three form between C and G

The gene - a sequence of bases on one strand of DNA double helix molecule which
codes for a polypeptide chain The genetic code - the order of three bases on one strand of DNA Each triplet codes for one amino acid The sequence of triplet codes for the sequence of the amino acids that will form a polypeptide, which will fold up to form a protein It needs to self replicate so that copies can pass to the daughter cell during divison It also needs to carry information that codes for protein

DNA replication
Meselson and Stahl Experiment with Escherichia coli showed that the semi-conservative theory was correct, that the one of the parent DNA strand and one of the new DNA strand combined Bacteria cultured in medium containing N15, makes heavy DNA that spins further down in centrifuge Bacteria transferred to medium containing N14, makes normal DNA which spins less far in centrifuge From the observation of "first replication" which is that the DNA spun down to the middle excludes the conservative model and the observation of the "second replication" which is that DNA spun down to the middle and there were some at the top excludes the dispersive model 1. Two strands of DNA unwind and split apart 2. Free nucleotides line up along each strand, observing the complementary base pairing rules

3. The enzyme, DNA polymerase bonds the nucleotides together as a phosphodiester bond forms between each deoxyribose and adjacent phosphate group 4. Hydrogen bonding links the two strands together

Protein Synthesis
1. The genetic code in DNA is in the nucleus, but the proteins formed using the code are made in the cytoplasm 2. DNA code is copied, making a molecule of messenger RNA in a process called transcription DNA unwinds and hydrogen bonds between base pairs split to separate the two strands Only one strand is used in the formation of mRNA (the template antisense - strand) Ribonucleotides are paired with their complement on the template strands and Uracil pairs with Adenine instead of Thymine and they are joined up by RNA polymerase to form a strand of DNA 3. mRNA passes into the cytoplasm through nuclear pores and is used to make a polypeptide in a process called translation mRNA carries the genetic message in the same base sequence language, as the DNA Transfer DNA translates the base sequence on the mRNA into the protein amino acid sequence Each tRNA molecule carries an amino acid to the mRNA, where the amino acid joins others carried by other tRNA to build a polypeptide mRNA is a copy of the genetic code of the protein being synthesised Code for specific amino acid Moves out of the nucleus Used in translation Template for translation Binds to ribosomes

tRNA is used in translation Binds to an amino acid and takes it to the ribosome (specific to the amino acid) Holds it in place Brings them together (peptide bonds)

Mutation
Mutation is a change is a base sequence on the DNA, and this can give rise to a change in amino acid sequence in the protein Mutations that occur during DNA replication can have the greatest effect because they are passed to new cells In body cells, this may lead to cancer In gametes, they can be passed to offspring and lead to genetic disorders such as Cystic Fibrosis Can be advantageous

Cystic Fibrosis
Genetic disorder

Recessive Caused by mutation of a single gene This gene codes for the CFTR protein that allows chloride ions to pass through cell membranes Several different mutations in the CFTR can stop the protein working properly Stops ATP binding to the CFTR protein, which stops protein from opening for chloride ions Most common: deletion of three bases, which causes the loss of 508th amino acid and the finished protein cannot fold correctly to form the channel Found on Chromosome 7 Most common inherited disease with 1 in 25 people in the UK, carrying a recessive allele

The effects of CF Problems in gas exchange Mucus accumulates in the lungs and the bacteria trapped in this mucus increases the possibility of infection Mucus can block bronchioles, which reduces the number of alveoli in contact with fresh air, so reduces surface are for gas exchange - unable to breath easily Problems in digestion Mucus blocks the pancreatic duct, so digestive enzymes can't react the small intestine and food is not properly digested; this leads to tiredness and difficulty in gaining weight Enzymes trapped within the pancreas cause fibrosed cysts and damage to insulin producing cell, leading to diabetes Problems in reproduction In women, mucus can block the cervix preventing the entry of sperm In men, the sperm duct is missing or blocked with mucus, so sperm cannot leave the cell Mucus traps bacteria Mucus cannot be removed by cilia Provides conditions for bacteria to grow Antibodies are not efficient CFTR gene is not functioning properly Thick mucus, which blocks pancreatic duct Enzymes cannot reach small intestine Reduced digestion and absorption, which leads to malnutrition

Reference to CFTR protein Reference to a different sequence of amino acids on defective CFTR protein Change in protein Role of protein in transporting chloride ions Chloride ions does not move out of cells Sodium ions move into cells Water moves into cells by osmosis

 Mucus becomes stickier Mucus cannot be moved by cilia

Monohybrid cross - the inheritance of just one characteristic

One gene that controls something and it has two alleles (different versions of the same gene) If one is dominant in the pair of alleles, that will be expressed in the individual, unlike recessive However, if both are recessive, then the recessive allele will be expressed, but both is needed Genotype: their genetic make up Phenotype: what they look like

Homozygous: when the two alleles are the same Heterozygous: when the two alleles are different

Genetic therapy - insertion of a normal allele of a gene into cells to replace an

allele that causes an inherited disorder Somatic Therapy 1. Identify the gene involve, for example the gene for CF is found on chromosome 7 2. Make copies of the normal allele and insert into a vector (virus or liposome) into bone marrow 3. Use the vector to insert the cell into the target cells and repeat treatment is required Trials have been successful in transferring the normal CFTR allele in the epithelial cells in the lungs of CF patient; it can make the functioning CFTR and allow normal chloride movement, therefore the mucus will be runny and the gaseous exchange system symptoms disappear Germ Line therapy - illegal, as it can affect every cell if the embryo and can be passed on Problems with current gene therapy for CF 25% of normal chloride transport function is restored Temporary effect - 2 weeks, as epithelial cells are constantly replaced with new cell containing the faulty cell Use of viruses can cause side effects: Headache Fatigue Fever Raised heart rate Inefficient delivery, especially with liposomes; 1 in every 1000 genes gets into epithelial cells

Genetic screening

Can be avoided using genetic screeninh: Avoid having a child with such condition Start treatment immediately after birth, which improves health in later years Both those options require genetic screening

Newborn babies could be tested for faulty alleles of the CF gene, but a blood test is routinely used to diagnose CF, however a CF gene has many possible mutations, so no test can cover all of them and a negative result could be false The to-be parents could be tested to identify carriers Pre-natal DNA testing of embryonic cells using amniocentesis or chorionic villus sampling (CVS)a so parents can decide whether to have the baby or not, and so that treatment can start immediately after the birth if the baby has CF

Amniocentesis Amniotic fluid removed from amniotic sac Embryonic cells present in fluid is needed DNA analysed to detect abnormal, defective gene Pre-implantation genetic diagnosis (PIDG) is when embryos are created through IVF and they are tested to see if they carry the faulty allele, only those which dont are implanted into the woman Expensive Unreliable

+ Gives informed choice / preparation - False/ wrong decision - Chance of miscarriage, and healthy baby could be lost - Embryo could be damaged - False negative could affect the future with a serious condition - Confidentiality issues, as paternal DNA does not match - Who has the right to make the decision - Fetus is living, so abortion is wrong

Ethics
Rights and duties Maximising the good (Utilitarianism) Making decision for yourself Leading a virtuous life

The factors that need to be taken into account: Risk of miscarriage or harm to fetus Right o life of the fetus What will happen in case of a positive diagnosis Cost of bringing up the child Mental and emotional issues surrounding the birth

 Caffeine: Heart rate determined before Put into sample and allowed to acclimatise Practical detail e.g.: use of microscope Details of determining heart rate Reference to named controlled variable Repeats Daphnia: very simple organism, with basic nervous system - any use of animal is wrong and how can you determine how much it can feel Membrane: Variable to be kept the same: surface area, temperature, age, storage, source Betroot Wash thoroughly Water bath to vary temperature 5 different temperature Appropriate controlled variable: same time, same size Calorimeter Repeats Triglyceride and Lipase: Different concetrations Mixing enzyme and substrate pH (DV) Measure using pH indicator Measure time using stopwatch Repeat without enzyme Repeats

Vitamin C: DCPIP Use of sample (juice) Titrating sample with DCPIP Colour change: blue to colourless Use of calibration curve to determine vitamin C concentration Reference to named controlled variable Repeats Drawing graph