Lifestyle, Health and Risk 12/4/2013 5:34:00 PM

2) Explain the importance of water as a solvent in transport, including its dipole nature

- Water is vital to living organisms

 makes up 80% of a cell’s content
 water is a solvent which means some substances dissolve in it.
 Most biological relations take place in solution
 water transports substances. Substances can be transported more easily if they’re
dissolved in a solvent
- Water molecules have a simple structure
 one atom of oxygen joined to two atoms of hydrogen by shared electrons
 shared negative electrons are pulled towards the oxygen atom, other side of hydrogen is
left slightly positively charged
 unshared negative electrons on oxygen give it a slightly negative charge
 makes water a dipolar molecule
H
(negative charge on one side and
a positive charge on the other) O
H

3) Distinguish between monosaccharides, disaccharides and polysaccharides (glycogen and starch

– amylose and amylopectin) and relate their structures to their roles in providing and storing
energy

Monosaccharides:
 Made up of 1 sugar molecule only
 Glucose, Fructose and Galactose
 No bond

Disaccharides:
 2 monosaccharides joined together
 condensation reaction
 joined by a glycosidic bond
 can be split through hydrolysis reactions

Maltose
 used for energy/food source in seeds
 alpha glucose + alpha glucose
Sucrose
  form in which sugars are transported in plants
 alpha glucose + fructose
Lactose
 carbohydrate source in mammalian milk
 alpha glucose + galactose

Polysaccharides:
 Many monosaccharides joined together
 Condensation reaction
 Glycosidic bonds
 Starch = polymer of glucose
 Glycogen = polymer for alpha glucose
 Cellulose = polymer of beta glucose

Starch and Glycogen:

o Energy stores
o Animals store glucose as glycogen
o Plants store glucose as starch
o Compact molecules
o Low solubility in water (don’t effect water concentration in cytoplasm, so
doesn’t effect osmosis)
o Large molecules
o Uncharged
o Easily broken down
 Starch ----------->maltose
Amylase
 Maltose ----------->glucose
Maltase

Starch:
 Make from 2 molecules in combination, amylose & amylopectin
 Both made from alpha glucose
 Found in amyloplasts inside plant cells for energy storage

 Amylose
o Long unbranched chains
o 1-4 glycosidic bonds only
o coiled structure (compact)
 o slow energy release because no branches, takes longer to break glycosidic bonds
 Amylopectin
o Long branched chains
o 1-4 and 1-6 glycosidic bonds
o side branches allow enzymes that digest the molecule to get at the glycosidic
bonds more easily (glucose is released faster)
5) Describe the synthesis of a triglyceride by the formation of ester bonds during condensation
reactions between glycerol and three fatty acids and recognize differences between saturated and
unsaturated lipids

Triglycerides:
 Made up of glycerol and fatty acids
 Ester bonds
 Formed through condensation polymerization reaction
 Used for storage, insulation, protection in fatty tissue
 Cannot be mobilized quickly as they are insoluble
 Not good for quick energy requirements
 When oxidized they yield more energy then any other compound
 Good for energy storage

Saturated fatty acids

 High melting point
 Solid at room temp (butter)
Unsaturated fatty acids
 Low melting point
 Liquids at room temp (fish oil)

6) Explain why many animals have a heart and circulation (mass transport to overcome limitations
of diffusion in meeting the requirements of organisms)
Unicellular organism don’t need transport system, as they rely on diffusion to excrete waste and
absorb nutrients due to their high SA:Vol ratio

2 types of circulatory system:

 open (mollusks, anthropods) : blood leaves vessels and moves around the internal
organs. Consists of heart that pumps haemolymph through short vessels and into a large
cavity called the haemocoel. The bodies main organs are located in the haemocoel.
  Closed (vertebrates) : blood always held within vessels. Blood pumped through series of
progressively smaller vessels (arteries  capillaries). In the capillaries, substances
diffuse in and out of the blood and into the cells.

Animals with a closed circulatory system have either single or double circulation.

Single circulation (fish)

 Heart pumps blood to the gills
 Gaseous exchange takes place (CO2 from blood  water, oxygen  blood)
 Blood leaving gills flows to rest of body before returning to heart
NOTE: Blood only flows through the heart once for each complete circuit of the body.
Double circulation (birds and mammals)
 Right ventricle of the heart pumps deoxygenated blood to the lungs
 Oxygen diffuses into blood
 Oxygenated blood returns to heart to be pumped a second time, this time by the left
ventricle, to the rest of the body
 Heart gives blood an extra boost, reducing time taken for circulation, results in high
metabolic rate as food and oxygen can be delivered quickly.
NOTE: Blood flows through the heart twice for a single circuit of the body

7) Describe the cardiac cycle (atrial systole, ventricular systole and diastole) and relate the
structure and operation of the mammalian heart to it’s function, including major blood vessels.

Cardiac Cycle

Diastole:
 Blood at low pressure in the veins flows into the atrium
 Increases pressure inside empty atrium as they fill
 As pressure increases, some of the blood trickles through the atrioventricular valves into
the relaxed ventricles below
Atrial Systole:
 When atria are full their walls contract
 Blood is pushed through the valves into the ventricles
 Ventricles fill with blood
 Valvles in vena cava & pulmonary veins snap shut to prevent backflow of blood from
atria to viens
Ventricular Systole:
 Ventricles contract from apex (base) upwards
  Pressure inside ventricles increases
 as pressure in ventricles > pressure in atria blood pushes against atrioventricular valves,
shutting them and preventing back flow (first heart sound)
 Semilunar valves open under pressure and blood leaves the heart
 Ventricle relaxed (diastole) and the semilunar valves snap shut behind the blood (second
heart sound)

Blood pressure drops in capillaries due to:

 Loss of fluid to the tissues thus reduction in blood pressure
 Pressure falls with distance from heart
 Narrower arterioles & capillaries have greater surface area so peripheral resistance
increased
 Lots of capillaries so greater cross-sectional area

8) Explain how the structures of blood vessels (capillaries, arteries and veins) relate to their
functions.

Arteries
 Can withstand high pressure due to thick walls of elastic fibres and smooth muscle
(allow walls to stretch as blood surges through)
 As artery increases in diameter, pressure is reduced. After they ‘give’, elastic fibres recoil
and pressure increases
 Large artery splits into smaller arterioles then branch into many capillaries. Arterioles
have a similar structure but more smooth muscle and less elastic tissue (they don’t need
to withstand as much pressure)
 Arterioles have ability to contract to regulate blood flow to tissue
 Small lumen
 Carries blood away from heart
Capillaries
 Tiny gaps between the cells making up the wall to allow substances to leave the blood
via diffusion (thin endothelium)
 Used in diffision – network of capillaries, short diffusion pathway
 Relatively large lumen
 Link the veins and arteries
 No elastic fibres, muscle or collagen in walls (rapid diffusion)
 One endothelial cell thick
Veins
 Valves present to prevent backflow
  Pressure is low
 Large lumen
 Thin layer of smooth muscles with few elastic fibres
 Carries blood towards the heart

Semi-lunar valves
 Base on aorta
 Prevents backflow
 Open during atrial systole

Elastic fibres
 In the muscle layer
 Allows stretching
 Prevent damage of aorta

10) Describe the blood clotting process (thromboplastin release, conversion of prothrombin to
thrombin and fibrinogen to fibrin) and it’s role in CVD (cardiovascular disease)

11) Explain the course of events that leads to atherosclerosis (endothelial damage, inflammatory
response, plaque formation, raised blood pressure)

Atherosclerosis is the degeneration of artery walls. It is caused by the narrowing and stiffening of
the arteries due to fatty deposits known as ‘atheroma’, gathering in the artery walls.
Healthy arteries:
 pale
 smooth linings
 elastic and flexible

Unhealthy arteries:
 strands of yellow fat deposited under endothelium
 fat builds up from certain lipoproteins and cholesterol
 fibrous tissue is layered
 deposits start to impede blood flow
 raise blood pressure
 thickening of artery walls
 reduced elasticity

Atheroma:
 A fatty deposit that builds up along the artery wall
o takes many years to develop
o can lead to CHD or myocardial infarction
 more likely to develop if an artery has been damaged in some way
 more likely if high blood pressure
 often in artery branches

Foam Cells:

Macrophages engulf cholesterol droplets by phagocytosis  these appear white and foamy. Foam
cells invade artery walls and form fatty plaques. The plaques build up and narrow the lumen of the
vessel. Plaque also contains dead, smooth muscle cells and fibres.

 After many years of building up, calcium is also deposited in atheroma

 Calcification hardens artery wall – decreased elasticity
 Build up of atheroma causes uneven artery lining
 Endothelium (artery lining) may split so lining becomes rough
o Disrupts blood flow
o Uneven pressure
o Blood flow becomes more turbulent increasing chance of blood clot forming
Process of atherosclerosis:
 Begins with abnormally high levels of excess fats and LDL cholesterol in the blood
 These substances infiltrate lining of arteries forming deposits (atheroma) due to an
inflammatory response
 Could happen in any of the arteries, including those supplying the brain (stroke)
 Atheroma keeps increasing in size, and forms raised patch known as a plaque
 Plaques consist of fatty cores within arterial wall and covered by fibrous caps
 Plaques narrow the lumen within the artery and this restricts blood flow to tissues
beyond the site
 Also disrupts smooth flow of blood, making it more likely to clot, forming a thrombus on
top of the plaque. Leading to further blockage of artery

Angina:

Condition caused by atheroma. Coronary arteries narrowed which means a low supply of glucose &
oxygen. Can cause severe chest pains when exercising. Pain usually felt in left shoulder, chest and
arm. Sometimes in neck and left side of face.

12) Describe the factors that increase the risk of CVD (genetic, diet, age, gender, high blood
pressure, smoking and inactivity)

13) Describe the benefits and risks of treatments for CVD (antihypertensives, plant statins,
anticoagulants and platelet inhibitory drugs)

Anticoagulants: e.g warfarin.

 If you have thrombotic disorder & need to stop clotting.
 Interrupts part of the process involved in blood clotting
 Reduces risk of intracranial bleeding
 Older patients may be susceptible to bleeding complications
 Increased risk of arterial calcification

Statins: e.g. stanols and sterols

 If you have high cholesterol levels
 Block action of a chemical in the liver that is necessary for making cholesterol
 Reduces risk of heart attack or stroke
 Raised liver enzymes
 Muscle problems
 Sexual dysfunction
  Cognitive loss
 Digestive problems

Platelet inhibitors: e.g. aspirin

 Reduces minor aches and pains and fever
 Used to prevent heart attacks
 Binds platelet molecules together to create patch over damaged blood vessels
 Reduces blood clots
 May lead to gastrointestinal bleeding

Antihypertensives: e.g. beta-blockers

 Helps angina, hypertension and glaucoma
 Targets beta-receptors on the heart muscle and interferes with binding to receptor and
other stress hormones
 Helps anxiety disorder
 Promotes low heart rate
 Reduced risk of heart attack
 Can cause diarrhoea, fatigue and heart failure

14) Analyse and interpret data on the possible significance for health of blood cholesterol levels
and levels of high-density lipoproteins and low-density lipoproteins. Describe the relationship for
a causal relationship between blood cholesterol levels and CVD

Low-Density Lipoproteins: 
 Mainly cholesterol. Made up of saturated fats and proteins. These cause deposits of
plaque around the body
High-Density Lipoproteins: 
 More protein and less cholesterol. They move cholesterol round the body and remove
cholesterol from blood and can help break down plaques.

17) 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.

Energy Budgets
The higher your blood cholesterol, the greater the risk of CHD. Cholesterol isn’t soluble in water, so
in order for it to be transported around the blood, insoluble cholesterol must combine with proteins
to form soluble phospholipids. Obesity and diabetes increases risk of CHD.
BMI = Mass (kg)
Height2 (m)

>20 = underweight
20-25 = normal
25-30 = overweight
30-40 = obese
<40 = morbidly obese

DRV – dietary reference values

EAR – estimated average requirements
LRNI – lower reference nutrient intake
HRNI – higher reference nutrient intake
LRNI EAR HRNI
Pumping the heart, breathing etc, are processes that go on all the time, even at rest. Energy needed
for these is the basal metabolic rate (BMR)

Energy balance calculated by:

BMR x PAL (physical activity level)
Positive energy balance = gaining weight
Negative energy balance = losing weight

18) Analyse and interpret quantitive data on illness and mortality rates to determine health risks
(including distinguishing between correlation and causation and recognizing conflicting evidence)

19) 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)

20) Explain why people’s 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)

Risk is overestimated if…

 It’s out of your control
 It occurs over the short term
 It’s the result of an intentional action
 It’s unfamiliar
 It involves a spectacular outcome
Risk is underestimated if…
 It’s done voluntarily by you
 It occurs over the long term
 It’s an accident
 It’s familiar
 It’s common

Risk = number of people with disease at any one time

number of people who could develop the disease
Risk factors – anything that increases chance of developing disease. They are correlational not
necessarily causal.
Genes & Health 12/4/2013 5:34:00 PM

2) Explain how models such as the fluid mosaic membrane of cell membranes are interpretations
of data used to develop scientific explanations of the structure and properties of cell membranes

Components of the plasma membrane:

 Phospholipids – act as a
barrier to most molecules,
made from 2 fatty acid chain
‘tails’ attached to a
phosphate group ‘head’.
Head is polar and hydrophilic,
tails are non-polar and
hydrophobic.
 Cholesterol – type of lipid
that controls membrane fluidity. The more cholesterol, the less fluid and less permeable
the membrane.
 Integral proteins – transports molecules across the membrane, or catalyses reactions
 Peripheral proteins – act as receptors for hormones or neurotransmitters
 Glycoproteins – involved in cell recognition, cell signaling and attachment
 3) Explain what is meant by osmosis in terms of the movement
of free water molecules through a partially permeable
membrane

Osmosis in cells:
The movement of water from a region of high concentration of water to a region of low
concentration of water, across a partially permeable membrane. Osmotic concentration only
concerns solutes that have an osmotic effect (no large insoluble molecules).
 Isotonic solution: same osmotic concentration as cell
 Hypotonic solution: osmotic concentration of solutes lower than in cytoplasm of cells
 Hypertonic solution: osmotic concentration of solutes higher than in cytoplasm of cells
 Cellulose cell walls: prevents cells bursting – if surrounding fluid is hypotonic, water
enters through osmosis. As cytoplasm swells, inward pressure of cell wall on cytoplasm
increases until it cancels out the tendency of water molecules to move in. Plant cell is
now turgid.

4) Explain what is meant by passive transport (diffusion, facilitated diffusion), active transport
(including the role of ATP), endocytosis and exocytosis and describe the involvement of carrier and
channel proteins in membrane transport.
Diffusion: no metabolic energy is expended. Small, non-polar molecules such as oxygen and CO2
rapidly diffuse across a membrane. Small polar molecules such as water and urea diffuse across via
osmosis much more slowly. Charged particles cannot diffuse even if it’s small.

Facilitated Diffusion: for large and/or hydrophilic particles such as glucose, amino acids. The
movement of molecules from a region of a high concentration to a region of low concentration
through either channel or carrier proteins. No energy is required.

Some particles like ions diffuse through channel proteins within the membrane. Particles diffuse in
or out depending on the concentration gradient. Some of the channel proteins (gated channel
proteins) may open or close in response to a messenger.

Other particles such as glucose diffuse through carrier proteins. The particle binds to the protein and
changes in shape and pump the molecule/ion into the cell.

Osmosis: the net movement of solvent molecules from a region of high concentration to a region of
low concentration, through a partially permeable membrane.

Bulk Transport: used to more larger substances across a membrane

 Endocytosis: bulk transport of materials into the cell by formation of vesicle.
o Phagocytosis is cell eating. Takes in solid materials, membrane forms
pseudopods, which surround material, then they fuse together around material.
Vesicle is then transported within the cell.
o Pinocytosis is cell drinking. Smaller sized particles taken in. Vesicle is formed
without formation of psuedopods.
o Receptor-mediated phagocytosis is when molecules transported into cells bind
to receptors on surface of the cell. Membrane then folds inwards, forming
protein-coated pits. Molecules are then engulfed and pit closes to form coated
vesicle.
 Endcytosis: process by which cell secretes waste material
o Vesicle formed inside the cell, often by golgi apparatus. Vesicles contain
hormones, enzymes and antibodies. It moves towards cell membrane, fuses
with it and releases content outside the cell.

6) Describe the properties of gas exchange surfaces in living organisms (large surface area to
volume ratio, thickness of surface, difference in concentration) and explain how the structure of
the mammalian lung is adapted for rapid gaseous exchange
7) Describe the basic structure of an amino acid (structures of specific amino acids are not
required) and the formation of polypeptides and proteins (as amino acid monomers linked by
peptide bonds in condensation reactions) and explain the significance of a protein’s primary
structure in determining it’s 3D structure and properties (globular and fibrous proteins and types
of bonds involved in 3D structure)

R group represents side of chain from central ‘alpha’ carbon. 2 amino acids join together to form a
dipeptide, joined by a peptide bond.

Polypeptide: amino acids added to dipeptide to form a chain

 Primary structure: sequence of amino acid in it’s polypeptide chain
 Secondary structure: interactions between amino acids cause chain to form localised 3D
sections (alpha helix, beta-pleated sheet). Structure held together by hydrogen bonds.
 Tertiary structure: a proteins overall 3D shape. Several types of bonds hold structure in
place (hydrogen, ionic, disulphide and hydrophobic interactions)
 Quaternary structure: when proteins have more than one polypeptide chain
(haemoglobin made from 4)

Fibrous Proteins: Little of no tertiary structure. Long, parallel polypeptide chains with occasional
cross-linkages. Insoluble and very tough, so ideal for structural functions. Found in connective tissue,
collagen, keratin (hair & nails) and structure of muscles.

Globular Proteins: complex tertiary structure and sometimes quaternary. Folded into spherical
shapes. Their large shapes affects behaviour in water; they form a colloid. Plays important role in
holding molecules in position in the cytoplasm. Also important for your immune system (antibodies).
They also form enzymes and some hormones.

8) Explain the mechanism of action and specificity of enzymes in terms of their 3D structure and
explain that enzymes and biological catalysts that reduce activation energy, catalyzing a wide
range of intracellular and extracellular reactions

10) Describe the basic structure of mononucleotides (as a deoxyribose or ribose linked to a
phosphate and a base, i.e thymine, uracil, cytosine, adenine or guanine) and the structures of DNA
and RNA (as polynucleotides composed of mononucleotides linked through concentration
reactions) and describe how complementary base pairing and the hydrogen bonding between 2
complementary strands are involved in the formation of the DNA double helix.
Structure of DNA
1 unit of DNA is a mononucleotide, which is made up of 3 things:
 pentose sugar (deoxyribose)
 phosphate group
 nitrogenous base (adenine, guanine, thymine and
cytosine)
Adenine = Thymine
Guanine = Cytosine

Nucleotides can polymerise, forming polynucleotides, through condensation reactions.

Phosphodiester bond is formed between pentose sugar and the phosphate group.

11) Describe the DNA replication (including the role of DNA polymerase) and explain how
Meselson and Stahl’s classic experiment provided new data that supported the accepted theory of
replication of DNA and refuted competing theories.

Semi-Conservative Hypothesis:
 E.coli bacterium grown in presence of radioactive 15N until culture was obtained
 Subculture of labeled bacterium transferred for growth in presence of normal 14N. We
know generation time of E.coli, so we can take samples from 1st 2nd and 3rd generations
 Each sample’s DNA extracted and centrifuged in a caesium chloride solution causing
DNA to sediment out
 The heavier the DNA, the further down it was in the centrifuge tube. 15N is heavier than
14N
 Original 15N DNA moved down to the lowest possible position in the tube
 After one generation all DNA moved to an intermediate position, indicating presence of
only mixed 14N and 15N (because DNA contained 1 strand of parent molecule and 1
new strand of 14N)
 In 2nd generation only half the DNA was intermediate and half was light, for the same
reason
Refuted theories: the parent DNA molecule breaks into segments and new nucleotides fill in the
gaps – fragmentation theory
The complete DNA molecule acts as a template for the new daughter molecule. Parent’s molecule is
unchanged – conservative hypothesis

DNA Replication:
 DNA helicase untwists and unzips DNA. Hydrogen bonds are broken
  DNA polymerase catalyses free addition of free complimentary nucleotides to exposed
bases
 This joins mononucleotides together forming phosphodiester bonds down one strand
The DNA strand twists as hydrogen bonds are formed, and the DNA is genetically identical (in RNA,
adenine is replaced by uracil not thymine)

12) Explain the nature of the genetic code

13) Describe a gene as being a sequence of bases on a DNA molecule coding for a sequence of
amino acids in a polypeptide chain

14) Outline the process of protein synthesis, including the role of transcription, translation and
messenger RNA, transfer RNA and the template (antisense) DNA strand

Transcription:
 Happens in the nucleus
 DNA helicase untwists and unzips DNA molecules. Hydrogen bonds are broken
 Complimentary RNA nucleotides are added to the antisense strand (A=U, G=C)
 Condensation reaction occurs in the sugar phosphate backbone of the RNA strand
 Phosphodiester bonds are formed
 RNA polymerase catalyses this
Translation:
 mRNA leaves the nuclease via nuclear pores
 mRNA heads to a ribosome
 tRNA comprising of a complimentary anticodon arrives at the start codon on mRNA
 At the opposite side to the anticodon is an amino acid
 A 2nd tRNA with a 2nd complimentary anticodon arrives
 When the 2 amino acids are close, condensation reaction occurs
 Peptide bond forms between amino acids
 First tRNA leaves the ribosome
 Ribosome moves along the mRNA
 Process repeats

15) Explain how errors in DNA replication can give rise to mutations and explain how cystic fibrosis
results from one of a number of possible gene mutations

Mutations
Addition mutation: Base is added to DNA (frame shift)
Deletion mutation: Base is deleted from DNA (frame shift)
Substitution mutation: wrong base is inserted into DNA (point mutation)
Frame shift mutation: they ultimately change the codons in mRNA that are formed during
transcription. This can lead to wrong amino acids being inserted into translation which can affect the
overall 3D shape of a protein
Point mutation: may only cause change in 1 amino acid, but can still be detrimental. Some codons
may code for the same amino acid so may not mutate.
Mutagenic agents cause DNA molecules to break, when the cells try to repair these breaks, errors
can occur.

16) Explain the terms gene, allele, genotype, phenotype, recessive, dominant, homozygote and
heterozygote, and explain monohybrid inheritance, including the interpretation of genetic
pedigree diagrams, in the context of traits such as cystic fibrosis, albinism, thalassaemia, garden
pea height and seed morphology.

Phenotype: Physical characteristics that are shown by the individual, determined by the
combination of alleles that are inherited
Genotype: Combination of alleles that are inherited from each parent
Allele: A different form of the same gene
Gene: A sequence of bases located at a specific position on a chromosome. Codes for a polypeptide
or protein
Heterozygous: This individual will inherit two different alleles of a certain gene
Homozygous: This individual will inherit two indentical alleles of a certain gene
Dominant: Only one allele needs to be inherited for this phenotype to be displayed
Recessive: 2 alleles must be inherited for this phenotype to be displayed

17) Explain how the expression of a gene mutation in people with cystic fibrosis impairs the
functioning of the gaseous exchange, digestive and reproductive systems.

Cystic Fibrosis: a disease that affects the respiratory and digestive systems by producing abnormally
thick mucus. Can also affect the reproductive systems. It is recessive mutation on chromosome 7 in
the CFTR gene. Mutations in CFTR – most common is a deletion of one amino acid at position 508 in
the CFTR protein.
 CFTR protein doesn’t fold correctly
 It will no longer allow Cl- to leave the top of the cell
 The Na+/Cl- pump is unaffected and continues to pump Cl- in and Na+ out
 Cl- accumulates in the cell
 Concentration of solutes inside cell increases. Water potential is low
  Water moves out of the mucus and into the cell to balance the concentration of solutes
 Mucus thickens
 Bacteria remain trapped in mucus and they reproduce, as it is warm and moist. Leads to
lung infections.
Symptoms: Breathlessness & coughs, repeated chest infections. Mucus clogs pancreatic duct and
blocks enzyme secretion, leading to poor digestion, causing low weight gain and low energy levels.
Sperm duct and oviducts may become blocked.
18) Describe the principles of gene therapy and distinguish between somatic and germ line
therapy

Somatic Gene Therapy: genetic defect is corrected only in affected cells. Works by cloning the
normal version of the gene then introducing this gene into suitable vector (adenovirus/liposome).
So, new DNA is transcribed and translated to make a new normal protein. 3 different ways:
1) disarm the retrovirus, whereby most of the virus genes have been removed.
The natural cycle of the retrovirus involves integration into the host
genome. This could cause a mutation. Also attacks proliferating cells such as
RBCs.
2) Through the use of the adenovirus which normally attacks respiratory
epithelia, injecting it’s genome into the epithelium cells. Viral genome does
not integrate into a chromosome but persists extra-chromosomally in the
cells. This eliminated the problem of a random mutation.
3) Liposomes are small vesicles composed of phospholipids. The normal gene is
contained within the vesicle (usually within a plasmid). They are put in a
plasmid to increase the stability of the gene. Vesicle fuses with cell
membrane and delivers the gene to the cell.

Somatic gene therapy can target one particular tissue. The cure is not passed onto offspring. This
must be repeated every 2 weeks as cells die and are replaced with faulty cells.

Germ-Line Gene Therapy:

 Using IVF the zygote is screened for genetic abnormalities
 A normal copy of the gene is injected which basically overrides the defective genes – a
vector is still necessary
 These is only a small chance that the gene will be accepted and the zygote will develop
as normal
 The first example was the correction of a growth hormone and was only 1% successful
Germ-Line is a lot more controversial as it is permanent and involves repairing the original gene
inside the egg/sperm or fertilized eggs. It results in the healthy genes in ALL BODY CELLS
  Eliminates the risk of passing on the defective gene to offspring

19) Explain the uses of genetic screening: identification of carriers, preimplantation genetic
diagnosis and prenatal testing (amniocentisis and chrorionic villus sampling) and discuss the
implications of prenatal genetic screening

Pre-natal testing
Amniocentesis:
 Carried out at 14-16 weeks of pregnancy
 Fine needle inserted into uterus through abdomen. Amniotic fluid withdrawn
 Foetal cells found in fluid are cultured for min. 4 weeks
 A karyotype analysis looks for abnormal chromosome numbers
 FISH uses fluorescent marker to identify faulty gene
 0.5-1% risk of miscarriage
Chorionic Villus Samping (CVS):
 Small sample of cells taken from chorionic villus
 Catheter inserted into vagina to the uterus
 Test carried out 8-12 weeks into pregnancy
 2% risk of miscarriage
Pre-implantation genetic diagnosis (PGD):
 Only offered if there is family history of genetic disorder
 Embryo must be created by IVF
 Involves removing a cell from an embryo at 8-cell stage of development and testing it for
disorders
 Only unaffected embryos implanted into womb, rest discarded
Ethics: false positives/negatives. Abortion. Impact on parents