Biology Topic 1 & 2 - Notes

Edexcel AS Biology Revision Notes
Written by Tim Filtness
Edexcel AS Revision
Unit 1: Lifestyle, Transport, Genes &

Health
Topic 1: Lifestyle, health & Risk
1.1.2
Water molecules are polar
H = Positively charged (+)
O = Negatively charged (-)
This allows them to form Hydrogen
Bonds with other water molecules. This
gives water some useful properties;
Property
Less dense as a solid
High SHC
Present naturally in all
three states
Transparent
Cohesion
Good solvent
Immiscible with
hydrophobic molecules
High latent heat of
evaporation
Buffer
Explanation
Arctic ecosystems float, ice insulates water beneath it
etc
Cells do not heat up or cool down easily, therefore can
hold a fairly stable temp. (cf enzymes)
Allows the water cycle to function
Allows photosynthesis underwater
Generates surface tension, capillary uptake,
transpiration etc
Essential role in transport in biological systems
Allows membranes to form and, therefore, control
movement in / out of cells
Evaporation of water has a strong cooling effect and
comparatively little water is required to lose a lot of
heat
Water is capable of accepting and donating protons,
therefore acts as a buffer
1.1.3
Saccharides are made from sugar molecules, which are made from
combinations of the elements Carbon, Hydrogen and Oxygen only
Saccharides are used for;
1. Fuels for respiration (e.g. glucose)
2. Energy storage molecules (e.g. starch and glycogen)
3. Structural molecules (e.g. cellulose)
Monosaccharides one sugar molecule only
Disaccharides two sugar molecules joined together
Oligosaccharides a few sugar molecules joined together
Polysaccharides many sugar molecules joined together
Disaccharide Name
Maltose
Sucrose
Lactose
Component monosaccharides
Glucose + Glucose
Glucose + Fructose
Glucose + Galactose
You need to know the different structures of glucose. You should

be able to draw this out if requested.
OH
Glucose
Glucose
There are three polysaccharides specifically mentioned on your

syllabus (starch, glycogen and cellulose). Cellulose is in Topic 4
(2.4.3) but is included here for reference.
Polysaccharide
Glycogen
Structure and Function

1. Made from Poly ( Glucose).
2. Found in muscle and liver cells for energy storage
3. Insoluble, so no osmotic effect in tissues
4. Lots of branches (i.e. 1-6 glycosidic bonds present),
which allows quick access to glucose
5. Compact shape, so good for storage
Starch
1. Actually made from two molecules in combination;

Amylose and Amylopectin
2. Both are made from Poly ( Glucose).
3. Found in Amyloplasts (starch grains) inside plant
cells for energy storage
4. Insoluble, so no osmotic effect in tissues
5. Amylose has no branches (i.e. 1-4 glycosidic bonds
only), so access to glucose is slow
6. Amylopectin has some branches (i.e. both 1-4 & 1-6
glycosidic bonds)
Cellulose
1. Made from Poly ( Glucose).

2. Main component of cell walls as it is a very strong
structural molecule
3. Insoluble for obvious reasons!
4. Cellulose has no branches (i.e. 1-4 glycosidic bonds
only), so adjacent cellulose chains line up close
5. Hydrogen bonds form between adjacent chains,
creating very strong cellulose fibrils
1.1.4
Saccharides join together in condensation reactions, which produce

water. A glycosidic bond forms between the saccharide molecules.
The opposite of a condensation reaction is a hydrolysis. This
requires;
1. Heat + HCL
2. OR an enzyme (e.g. Amylase)
Tests for Sacharides:
- Iodine solution turns brown blue/black in the presence of starch
- Benedicts solution turns blue brick red in the presence of a
reducing sugar
- Non reducing sugars (most disaccharides and all polysaccharides) will
give a positive result to Benedicts if heated in acid first.
1.1.5
Triglycerides are either fats or oils. They are made from the
elements C, H & O only.
Triglycerides are used for;
1.
2.
3.
4.
5.
Long term energy storage molecules

Insulation
Protection (e.g. pericardium)
Buoyancy
Synthesis of specific hormones (e.g. steroids)
Triglycerides are formed in
condensation reactions between;
1 x glycerol
3 x fatty acid
An ester bond forms between the
fatty acid and the glycerol
Saturated triglycerides have no

C=C bonds in them. They form fats.
Unsaturated triglycerides DO have
C=C bonds in them. They form oils.
The C=C bonds form kinks in the fatty acid chains, which push
adjacent triglycerides away from each other. This lowers the
effect of intermolecular forces (e.g. van der vaals forces), which
lowers the boiling and melting temp.
Test for a triglyceride (Emulsion test):
1. Add ethanol (dissolves fat)
2. Add water
3. White precipitate indicates a positive result
1.1.6
Ficks law:
Rate of Diffusion
Surface Area
Conc Gradient
Distance
If we apply this to a cube, the rate at which O2 reaches the centre
of the cube is a product of the ratio of the Surface Area compared
to the Volume (i.e. SA:Vol)
Amoeba
Large SA:Vol ratio
Can rely on diffusion through its

surface.
Human
Small SA:Vol ratio
Diffusion through surface is too slow

to supply O2. Therefore require a mass
transport system and specialized
exchange organs
In humans the mass transport system is the circulatory system and

the heart. The specialized exchange organs include the lungs and
the digestive system.
1.1.7
You need to know;
1. the names of the 4 chambers of the heart
2. the names of the 2 arteries and 2 veins attached to the heart
3. The names of the two sets of valves in the heart
4. The cardiac cycle
5. The initiation and conduction pathways of the heartbeat
Vena Cava
Aorta
Pulmonary Artery
Semi-lunar Valve
Cuspid Valve
Vena Cava
Contraction in the heart:
Remember, the atria contract first. The L & R atria contract at

the same time. The ventricles contract second. The L & R
Ventricles contract at the same time.
0 0.2s
Atrial Systole
0.2 0.3s
Ventricular
Systole
The atria contract, atrial pressure rises and

blood is pushed from atria ventricles
The ventricles contract, ventricular pressure
rises above atrial pressure and the cuspid valves
shut (1)
Ventricular pressure rises, but no blood leaves
the heart yet!
When ventricular pressure rises above pressure
in the arteries the semi-lunar valves open (2)
0.3 0.4s
Diastole
0.4 0.7s
Diastole
Blood leaves the heart

The ventricles relax. Ventricular pressure falls
and when pressure in the arteries > ventricular
pressure the semi-lunar valves shut (3).
The entire heart is relaxed. The cuspid valves
open (4) and both atria and ventricles fill with
blood.
SAN: Sino-Atrial Node

AVN: Atro-Ventricular Node
Purkinje Fibres (in bundle of His)
1. SAN sends a wave of electrical activity (depolarization)

around the walls of the atria.
2. A ring of insulating tissue blocks the wave from passing into
the ventricles.
3. The AVN conducts the wave into the Ventricles slowly, which
gives the ventricles time to fill.
4. The Purkinje fibres are fast-conducting and take the wave to
the apex of the heart first, so the ventricles contract bottom
upwards.
1.1.8
Artery:
collagen &
connective tissue
smooth muscle
& elastic tissue
lumen (blood)
0.1-10mm
Arteries carry high pressure blood away from the heart.
Key Points:
1. Thick muscle layer to withstand high pressure blood

2. Elastic tissue allows artery to stretch when blood is forced
into it. The elastic layer recoils during diastole, converting
pulsatile into laminar (continuous) blood flow.
3. Protective collagen layer
4. Round shape
5. Relatively small lumen
Vein:
collagen &
connective tissue
smooth muscle
& elastic tissue
semilunar valve
lumen (blood)
0.1-20mm
Veins carry low pressure blood towards the heart.
Key Points:
1.
2.
3.
4.
5.
Thin muscle layer (low pressure blood)

Valve to stop backflow
Protective collagen layer
Not a round shape (wall not thick enough to hold shape)
Large lumen (decreases effect of friction)
Capillary:
basement
Small holemembrane
(collagen)
endothelium cell
red blood cell
8 m
Capillaries are adapted for exchange they are not connected
directly to the heart.
Key Points:
1. Walls are one cell thick (cells are called endothelial cells)
2. Lumen is the same width as one RBC (therefore more of RBC
in contact with wall, therefore smaller diffusion distance)
3. No muscle or elastic tissue
4. Tiny (compare the scales and remind yourself what a m is)
1.1.9
Dig up your Daphnia Core Practical notes in the Practical
Handbook
1.1.10 & 1.1.11
Atherosclerosis is a disease in which the wall of arteries becomes
furred up with fatty deposits called plaques or atheromas. The
sequence of atherosclerosis is as follows;
1. Endothelial layer on the inside of an artery is damaged
2. Inflammation (an A2 topic) of the artery wall occurs
3. White blood cells move into the artery wall
4. Cholesterol begins to accumulate at the site of damage
5. Atheroma forms
6. Lumen narrows
7. Pressure increases
As hypertension speeds atheroma

formation these steps are a vicious
cycle!
After atherosclerosis has developed there is a chance that a blood

clot might form in the damaged area. This makes the problem much
worse!
Clot formation:
1. Platelets are activated by substances released by the
damaged artery wall
2. Platelets become sticky and form a platelet plug on the
surface of the atheroma
3. Platelet plus releases chemicals which activate thromboplastin
4. Thromboplastin initiates the clotting cascade
Thromboplastin
There is a real danger of the blood clot becoming dislodged from

the site of formation. It could be carried around the bloodstream
and deposited elsewhere. If this occurs;
- in the brain a stroke occurs
- in the coronary arteries, CHD or even an infarction might occur
- anywhere else, ischaemia and even gangrene are possible
1.1.12
Risk factors for CVD. There are lots, but these 7 are specifically
mentioned on your syllabus
Risk Factor
Age
Gender
Explanation
Atherosclerosis occurs naturally as our arteries become
less elastic with age. Less elastic = higher pressure
during systole, hypertension, atherosclerosis
bummer.
Girls have less atherosclerosis: fact. Two explanations;
1. Girls make oestrogen, which has a protective effect
against atherosclerosis. Evidence to support this theory
is that incidence of atherosclerosis in post-menopausal
women rises to that of men.
2. Women tend to have less stressful jobs / be at home

more less stress less hypertension, etc
Hypertension
Speeds up atheroma formation AND causes endothelial
damage (which is the 1st step in atherosclerosis)
Smoking
Nicotine is very, very good at damaging the endothelium.
Remember that next time youre tempted to dally behind
the bike shed
Inactivity
Allsorts of factors here;
- lower BMI = less hypertension
- fitter heart = less hypertension
- exercise decreases LDL levels
- exercise increases metabolic rate lowering BMI
- Possibly some indirect contributing factors as well
if you exercise regularly you probably put stock in
looking after yourself are you likely to be
smoking or drinking as well?
Genetic predisposition Some alleles give you less protection from / greater risk
of developing atherosclerosis. To an extent, a higher
chance of getting atherosclerosis does run in families
Diet
Millions of contributing factors here;
- High salt intake causes hypertension
- Eating saturated fats decreases HDL level
- Eating more calories than you need causes BMI to
increase.
High
BMI
is
associated
with
atherosclerosis
- Alcohol causes hypertension directly
1.1.13
Drug treatments for atherosclerosis and their side effects;
Antihypertensives
Diuretics The Loop of Henle is the part of the nephron (in the
kidney) that regulates water reabsorption. Essentially, it puts Na+
back into the blood by active transport. This lowers the water
potential in the blood, so water follows the Na+ by osmosis. Most
diuretics block the protein that actively transports the Na+, so less
water is returned to the blood, thus reducing the pressure.
Three problems with this, however;
1. The blood gets more viscous, which makes the heart beat
harder
2. Dehydration can occur
3. Only treating the symptom
Blockers block the adrenaline receptor in the heart. This stops
the heart from beating harder in response to stress and, therefore,
reduces hypertension.
There are some side effects in some cases (e.g. sleep disturbance,
depression, vasoconstriction of the extremities) but generally
theyre pretty good. One of the main problems is bradycardia,
which can become serious if you have CHD. Can you explain why?
Ca2+ channel blockers stop the heart muscle from contracting too
hard. You dont need to know why, but if youre interested look up
Starlings Law of the heart
Major side effect is arrhythmia, which can develop into fibrillation
and infarction.
ACE Inhibitors are REALLY complicated, but I dont know how

much of this youre supposed to know, so here is the full version of
things
Renin Enzyme
ACE Enzyme
Angiotensinogen
Angiotensin I
Angiotensin II
A protein made by
the kidneys, which
circulates in the
blood
An
intermediate,
also circulating in
the blood
The important one!

This is the hormone
that increases blood
pressure!
Basically, our kidneys make Angiotensinogen all the time, but it

doesnt do anything itself (its not a hormone) it just circulates in
the blood. However, when we are hyoptensive (i.e. have low blood
pressure) the kidneys start to make Renin enzyme, which turns
Antiotensinogen into Angiotensin I. After this, ACE enzymes (found
in the endothelial cells lining arteries) quickly turn the Antiotensin I
into Angiotensin II, which is a powerful hormone. It has the
following effects;
1. General vasoconstriction
2. Causes the hypothalamus to release ADH (look it up from
GCSE, it was in Unit 3), which increases water reabsorption by
the kidney
3. Stimulates the brain to release aldosterone, which causes the
kidneys to increase salt reabsorption, which in turn increases
water reabsorption.
All of these effects increase blood pressure, so ACE inhibitors will,
therefore, do the opposite.
The major side effect is kidney failure.
Vasodilators dilate blood vessels, reducing blood pressure.
If this occurs too much you get hypotension, which can cause heart
attacks (not enough blood returns to the heart to fill it properly)
Statins
Two effects;
1. Block an enzyme in the liver that makes cholesterol.
2. Remove LDL from the circulation
Associated with liver failure.
Anticoagulants
As the second stage of atherosclerosis is associated with blood
clotting (thrombosis), anticoagulants block the clotting process.
There are many, many different ways of doing this.
Blood clots slowly.
Platelet inhibitory drugs
These work in the same way as anticoagulants but target platelets,
which are required to activate the clotting process. They,
therefore, have the same side-effects.
1.1.14
Cholesterol is the major component in atheromas. High blood
cholesterol level is, therefore, a bad thing. We get cholesterol from
two sources;
1. Diet
2. It is made by the liver
Lipoproteins (also made by the liver) ferry cholesterol around in the
bloodstream and play a role in pushing the liver towards making
more cholesterol, or excreting more cholesterol. There are two
types of lipoprotein;
High Density Lipoproteins (HDLs) take cholesterol out of the

circulation to the liver, where it is converted into bile salts and
(ultimately) excreted. HDLs lower cholesterol levels.
Low Density Lipoproteins (LDLs) take cholesterol from the liver and
put it into the circulation to the liver. LDLs increase cholesterol
levels.
Crudely
High HDL = good
High LDL = bad
High cholesterol = bad
1.1.15
You need to understand that scientists use their scientific
knowledge of the effects of diet, exercise and smoking to try and
predict risk of CVD and, therefore, to give people advice about how
to reduce their risk.
1.1.16
Dig up your Vitamin C Core Practical notes in the Practical
Handbook
1.1.17
Body Mass Index
Mass
(Height)2
Your energy budget balances the number of calories you require

with those that you consume. Ideally, they ought to be the same.
Energy consumed > Energy expended mass gain
Energy consumed < Energy expended mass lost
BMI
BMI
BMI
BMI
< 18.5
between 18.5 and 25
between 25 and 30
> 40
Underweight
Normal
Overweight
Obese
1.1.18 & 1.1.19

You need to be able to analyze data on mortality rates to determine
health risk. Be careful!
If two sets of data follow the same pattern they are correlated
If two sets of data follow the same pattern because one factor
directly affects the other they are causal
In order to assess whether data is correlated or causal scientists
experiment, the idea being to try and falsify the Null Hypothesis
that one factor does not affect the other. However, be aware that
the design of the experiment often affects the results. Things to
watch out for;
1. People selected were not representative of the population
(e.g. all students, all female, etc) i.e. not accurate
2. Only a few people were involved in the experiment (i.e. not
very reliable)
3. Not all the variables were controlled i.e. a systematic error in
the experiment (i.e. smokers included with non-smokers)
If you get a question on this section of the syllabus always

ask yourself WHERE HAS THE DATA COME FROM?
1.1.20
Why might peoples perception of risk be different from the actual
risk?
1. They dont understand the risk fully and underestimate it (e.g.
if you smoke your risk of CVD is X and if you are obese your
risk of CVD is Y. BUT if you are both your risk is not X + Y
but XY much greater!)
2. They dont understand the risk fully and overestimate it (e.g.

the person who thinks they actually might win the lottery this
week)
Broadly speaking, risk factors for CVD tend to be underestimated
because people dont realise that risk factors tend to be associated
with other i.e. if you smoke and drink and are obese, chances are
you also eat a diet high in saturated fat and salt. Quite quickly the
risks stack up
Oxygen Dissociation Curve

This is not mentioned on the syllabus, but it is in the text book. The
prudent man learns it anyway
Remember, each Haemoglobin (Hb) can bind up to 4 O2 molecules.
The affinity of Hb for O2 changes depending on how many O2 are
being carried.
A: The haemoglobin is in the lung and is O2 loading. Affinity of Hb is

high, therefore it fills up with O2 easily.
B: The haemoglobin is in the respiring tissues. Initially affinity is

high, so Hb does not give O2 away easily to tissues that already have
enough. However, when Hb gives up its 1st O2 the affinity suddenly
drops, so Hb tends to unload 3 O2 just where it is required!
C: With 3 O2 removed the affinity is high again, so the last O2 is
kept as an emergency. It is only given up if the Hb passes through
tissues with very low PO2
When the line shifts position
1. Foetal Hb has a higher affinity than adult Hb. This is so the
foetus will load with O2 from the maternal Hb. Foetal ends
with L, therefore shifts to the LEFT
2. Llamas (starts with L) live at altitude and need to have Hb
with higher affinity to load O2 in the thin air.
3. Myoglobin (has an L in it) is an O2 store in muscles. It has
very, very high affinity for O2 so only gives off O2 when in the
emergency section of the graph. Whales and diving mammals
have vast quantities of myoglobin in their muscles.
4. Bohr (ends in R) shift occurs when Hb is exposed to acid. The
affinity drops and O2 is unloaded more easily. Acids tend to
be
- carbonic acid (made from CO2)
- lactic acid (made in anaerobic respiration)
Both acids are produced when O2 is in short supply, so it
makes sense for Hb to give up more O2 in these
circumstances.
End of Topic 1
Edexcel AS Revision
Notes
Unit 1: Lifestyle,
Lifestyle, Transport, Genes &
Health
Topic 2: Genes & Health

1.2.2
Charged phosphate head hydrophilic
Uncharged fatty acid tails hydrophobic
Cell membranes are made from a double layer (bilayer) of

phospholipids, which align heads inwards and tails outward
because of their attraction / repulsion from water. Sat in teh
membrane are transmembrane proteins. The proteins have a number
of roles;
- channels into / out of the cell (see 1.2.4)
- receptors for hormones (tend to be glycoproteins)
- cellular glue joining adjacent cells together (look up
desmosomes if youre interested)
- anchors for the cytoskeleton
1.2.3
Osmosis is the movement of water molecules from high
concentration to low concentration through a partially permeable
membrane.
Water molecules cannot pass through the bilayer itself because
they are charged and are repulsed by the fatty acid tails. There
are a few theories about how the water actually gets through, but
these are the best so far;
1. Passes through special channels called aquaporins
2. Moves through ion channel as ligands on ion complexes (e.g.
with Na+ or Mg2+)
1.2.4
How do molecules move in / out of the membrane?
1. Uncharged hydrophobic molecules (e.g. steroid hormones,
cholesterol, ethanol) pass freely between fatty acid tails by
diffusion
2. Large hydrophilic molecules (e.g. enzymes) move in by
endocytosis and out by exocytosis
3. Small hydrophilic molecules (e.g. glucose, mineral ions, water)
move in and out via proteins in the membrane. There are 3
types of these;
Channel Proteins
Movement is governed by molecules diffusing freely through the

channel. Sometimes the channel will only open under specific
circumstances (i.e. if a certain hormone is present, or under certain
environmental conditions e.g. temp, pressure etc). These are gated
channel proteins
Facilitated Diffusion proteins
Protein channel has an active site specific to a particular hydrophilic

molecule. It attaches to the molecule, spins around in the membrane
and deposits it on the other side. Movement is governed by the
concentration gradient.
Active Transport proteins
As above, but the movement is against the concentration gradient.
Energy (in the form of ATP) is required to get movement to occur.
1.2.5
Dig up your Beetroot Core Practical notes in the Practical
Handbook
1.2.6
Ficks law:
Rate of Diffusion
Surface Area
x
Distance
Conc Gradient
Human Respiratory System

Larynx (voicebox)
Thachea
Ribs
Bronchiole
Alveolus
Bronchus
Intercostal Muscle
Diaphragm
Thoracic Cavity
contained within
pleural membranes
You should be able to explain breathing in terms of volume and

pressure changes in the Thoracic Cavity (GCSE idea)
Adaptations for rapid gas exchange (all related to Ficks Law)
Element of Ficks Law
Surface Area
Distance
Conc Gradient
Adaptation
Each alveolus has a small SA, but there are
millions, which produces a huge total SA
Each alveolus is one cell thick, as are the
capillaries which surround them. Therefore, the
total diffusion distance is only two cells!
Ventilation maintains a constantly high PO2 in
the alveoli. Additionally, as soon as O2 has been
collected by haemoglobin the circulation
removes it, therefore maintaining a low PO2 in
the blood. This keeps the concentration
gradient high!
Remind yourself why humans need lungs in the first place, why
cant we just breathe through our skin like Amoeba do?
1.2.7
Proteins are polymers of
amino acids. There are
~20 amino acids, each of
which has the same basic
structure with a different
variable group (R group)
Amino acids are connected by peptide bonds. They are formed in

condensation reactions and broken up in hydrolysis reactions.
Test for Protein:

- Biuret solution turns blue purple halo in the presence of protein
Primary Structure a long chain of amino acids

connected by peptide bonds. Most proteins do
not function in their primary form
Secondary Structure the long chain of amino
acids is folded into two types of structure;
- Alpha helix
- Beta sheet
Both are held together by hydrogen bonds
Tertiary Structure sections of secondary

structure are folded up further, forming a
protein with a 3D shape. The shape is held
together by covalent bonds (e.g. disulphide
bridges) between R groups of specific amino
acids.
Quarternary Structure formed when two or
more tertiary proteins are combined e.g.
haemoglobin is made from 4 x haem proteins
As the shape of a protein determines its function (think about the
active site of an enzyme, for example) it is really important that all
the bonds holding the shape together form in the right places. The
most important bonds are those that hold the 3o and 4o structure
together and these all form between R groups of specific amino
acids. Therefore;
The specific sequence of specific amino acids determines

the shape of the protein and, therefore, its function.
1.2.8
In the Lock and Key hypothesis, the active site and the substrate
are completely complementary.
1.
2.
3.
4.
5.
Substrate diffuses into the active site

Substrate binds to the active site
Bonds in the substrate are broken as a result
Products form and unbind from the active site
Products diffuse out of the active site
In the Induced Fit hypothesis the mechanism of action is the same

except that the active site changes shape to fit the substrate once
the substrate has bound. The shape change causes bonds in the
substrate to break, forming the products.
All enzymes work by reducing the Activation Energy (Ea). This is

the energy required to get the reaction to start. Enzymes provide
an alternate reaction pathway (i.e. a different way for the reaction
to happen in the active site), which requires less energy to start.
1.2.9
Dig up your Enzyme Core Practical notes in the Practical
Handbook
1.2.10
DNA is made from many nucleotides joined together. It is,
therefore, a polynucleotide
Each nucleotide contains 3 things;
(i)
(ii)
(iii)
Sugar molecule,
Nitrogenous base
Phosphate group (negatively charged)
H / OH
There are 2 types of nucleotide;

(i)
(ii)
Ribose nucleotides
Deoxyribone nucltodies
- make RNA
- make DNA
DNA nucleotides have 2H atoms on the C2 carbon atom

RNA nucleotides have an H and an OH on the C2 carbon
Other differences:
RNA is single stranded, DNA is double stranded
RNA has different bases
RNA used to make 3 different things (mRNA, tRNA & rRNA),
DNA only used to determine genetic code
DNA only found in nucleus, RNA in nucleus & cytoplasm
Polynucleotides are formed by connecting the

phosphate group of one nucleotide with the 3rd
carbon atom of another, forming the SugarPhosphate Backbone
DNA is made from 2 strands of DNA polynucleotides,

held together by hydrogen bonds between the bases.
Because the strands face in opposite directions DNA
is an antiparallel molecule.
DNA
RNA
Adenine (A) pairs with Thymine (T)

Guanine (G) pairs with Cytosine (C)
Adenine (A) pairs with Uracil (T)

Guanine (G) pairs with Cytosine (C)
1.2.11
DNA Synthesis:
DNA synthesis is semi-conservative

(i.e. half of each new strand is old DNA
& half is new DNA)
unwinds
the
DNA
1. Helicase
forming the replication fork.
2. New nucleotides diffuse into the
fork and hydrogen bind with their
complementary partners
3. DNA
Polymerase
joins
the
nucleotides together forming the
new sugar phosphate backbone
You can make this more complicated by
looking closely at what happens on the
lagging strand, but you dont need to
know it (if youre interested look up
Okazaki fragments)
The proof that DNA Replication is semi-conservative (rather than

conservative, or dispersive the other theories) was provided by
Meselson & Stahl. Their experiment is shown on the next page (you
need to know what they did), but you should be able to interpret
their results as follows;
Original DNA, all heavy DNA band at bottom of centrifuge
1st generation DNA, old, new DNA band in middle of centrifuge
2nd generation DNA, some and (forms one band at top) & some all
new second band in the middle of centrifuge. No other theory
predicts formation of TWO BANDS
1.2.12
1.2.12 & 1.1.13

The genetic code is read from the sequence of bases in the DNA.
Each of the ~30,000 instructions in the code is a gene and tells the
body how to make one specific protein. Genes, therefore, code for
proteins.
The genetic code is read in sequences of 3 bases, called codons each
codon represents one specific amino acid.
A Gene
e.g. in this gene the code is ATG CCA

corresponds to the following amino acids
A Protein
1.2.14
Protein Synthesis occurs in two stages;
(i)
Transcription
(ii)
Translation
CTA
GCA
CGC, which
Transcription:
Takes place in nucleus
A complementary copy of the gene is made using RNA
1. Gene opens up. Hydrogen bonds break between bases
2. RNA nucleotides attracted to complementary bases and form
hydrogen bonds.
3. RNA nucleotides joined together by enzyme RNA Polymerase.
4. Complementary RNA copy of gene now made. It is called mRNA
(messenger RNA)
5. Single stranded mRNA molecule diffuses out of gene
6. mRNA molecule leaves nucleus through nuclear pore (large holes
in nuclear envelope)
7. Many mRNA strands are made before gene closes.
MRNA is complementary, not a copy!
DNA
TAC GAA TCT GAG CAC GGC TAT ATC
mRNA.
AUG CUU AGA CUC GUG CCG AUA UAG
Translation:
Takes place in cytoplasm
MRNA code read by ribosome and amino acids assembled in
correct order to make protein
1. mRNA strand binds to cleft in ribosome. Start AUG codon fits
into bottom of P site
2. tRNA diffuses into P site and recognises the mRNA codon using
its specific anticodon
3. A second tRNA diffuses into the A site and recognises the

mRNA codon there.
4. The amino acids between the two tRNAs join together forming a
peptide bond
5. The tRNA in the P site diffuses into the cytoplasm and binds to
another specific amino acid.
6. The ribosome moves one codon down the mRNA chain so that the
P site is filled with the tRNA from the A site and the A site is
empty
7. When the ribosome reaches the stop codon it releases the
mRNA and the amino acid chain.
Most ribosomes translate whilst attached to the rER. The
completed primary protein is inserted into the rER, where enzymes
fold it into its secondary and tertiary shape.
Many ribosomes can translate the same piece of mRNA at the same
time. A polysome forms
1.2.15
A Mutation = a change in the genetic code.

By changing the genetic code mutations ultimately change the
sequence of amino acids in primary proteins. This changes the
sequence of R groups in the protein and, therefore, the way in which
the protein folds up. This affects on the function of the protein
Mutation
Neutral mutations
Deletion mutations
Insertion mutations
Frame-shift
mutations
Non-sense mutations
Explanation
The function of the protein is unchanged after the
mutation (i.e. the protein still does its job as well as it
did before the mutation). There are 2 possible causes;
One codon is altered. However, the codon still codes
for the same amino acid. Therefore, the protein is the
same
A codon is changed, leading to a different amino acid in
the primary protein. However, this protein is not in a
place crucial for folding, so the protein is still the same
shape and functions the same.
A nucleotide is deleted from the DNA code, which
changes all the codons after the deletion. This causes
frame-shift.
A nucleotide is inserted into the DNA code, which
changes all the codons after the insertion. This causes
frame-shift.
All the codons in the sequence are altered, meaning
that every amino acid after the addition / deletion is
different. Normally, this has a huge impact on the
function of the protein.
One of the altered codons in the frame-shifted
sequence changes to become a stop codon. Protein
synthesis stops half-way through the gene, resulting in
only half of the protein being made. Almost always the
protein does not function.
Any mutation in the CFTR gene that stops / impairs the function of
the CFTR protein causes Cystic Fibrosis. To date over 2000
different mutations have been catalogued, each of which causes CF.
1.2.16
Key Definitions:
Gene: a sequence of DNA coding for a specific protein
Allele: an alternative version of a gene
Genotype: the pair of alleles an individual possesses
Phenotype: the physical appearance
Recessive: allele does not affect the phenotype in the presence of a
Dominant allele
Dominant: always affects the phenotype
Homozygote: individual possesses two copies of the same allele
Heterozygote: individual possesses two different alleles
A Genetic Diagram
Parents Phenotype:
Brown eyes
Brown eyes
Parents Genotype:
Bb
Bb
Gametes:
F1 Genotype:
F1 Phenotype:
BB
Bb
Bb
bb
3 : 1 Brown eyes : blue eyes
Note the gametes are always put in circles
Disease
Heritability
Sickle Cell Anaemia
Recessive
Thalassaemia
Recessive
Achondroplasia
Dominant
Albinism
Recessive
Effect
A mutation in the haemoglobin genes Cause
haemoglobin molecules to stick together inside
red blood cells. RBCs become distorted into a
sickle shape. They can become stuck inside
capillaries leading to clots and stroke. RBCs have
limited oxygen carrying capacity.
A mutation in (usually) the gene coding for alpha
haem causes very slow haemoglobin production.
This results in anaemia and reduced haemocrit (%
RBCs per unit volume of blood). Regular
transfusions are required.
Caused by a mutation in one of genes controlling
collagen production in bones. As a result bone
growth plates fuse too early, leading to
shortening of the long bones. Homozygous
dominant genotype is fatal.
A mutation in the gene coding for melanin protein
stops melanocytes from producing melanin.
Melanin colours hair, skin etc and provides
protection from UV rays.
You also need to interpret inheritance problems involving seed

morphology (shape) and plant height.
1.2.17
Goblet cells secrete mucus onto the surface of the epithelium,
which lines the lungs. Epithelial cells regulate the water content of
mucus. In the alveoli mucus is very watery to allow it to be wafted
easily by cilia. However, higher up the lungs water is drawn out of
mucus to reduce its volume: one cannot fit the mucus from 6 small
bronchioles into one larger one, so water is removed.
In Cystic Fibrosis the mechanism controlling the water content of
the mucus does not work properly and the water removal process is
constantly switched on in all parts of the lung. This means the
mucus is too sticky in the alveoli and cannot be wafted.
Normally:
Cl- moves out of epithelial cells

into mucus via the CFTR protein.
Mucus
Water
Cl-
Water
Na+ is drawn into mucus to

balance the charge. Na+ passes
between epithelial cells.
The combined effect of Na+ and
Cl- reduces water concentration
making hypertonic mucus.
Tissue Fluid
Na
Water is drawn into mucus by

osmosis and mucus is dilute.
Cystic Fibrosis:
Mucus
Water
X
Cl-
Na+ does not move into mucus as

there is no charge to balance.
Mucus is hypotonic.
Tissue Fluid
Na+
CFTR is blocked or absent, so

Cl- stays inside epithelial cells.
Water
Water is drawn into epithelial

cells by osmosis and mucus is
sticky.
The sticky mucus causes the effects of CF and affects;

a) Lungs,
b) Digestive system
c) Reproductive system
Tissue
Lungs
Reproductive
system
Digestion
Effect of CF
Mucus produced is too sticky and blocks the
alveoli. This makes the person breathless. The
mucus also provides ideal conditions for bacteria,
so chest infections are common.
Mucus blocks the vas deferens in boys and the
fallopian tubes in girls, making the individual
infertile
Mucus blocks the bile duct and the pancreatic
duct. Enzymes do not reach the small intestine and
food is not digested properly.
1.2.18
The problem with genetic diseases is that they are caused by a
mutation that is present in every cell of the body. In order to cure
the disease you need to change the DNA in every cell of the body,
which is impossible. However, in the case of CF because the CFTR
protein is only transcribed by epithelial cells (the cells lining the
lungs, digestive system and reproductive tracts) only these cells
need to be targeted.
So how can you change DNA inside living cells? Answer: use gene
therapy, which attempts to add a normal copy of the CFTR gene to
the DNA inside epithelial cells.
Gene Therapy (in humans no plasmids are used)
Step 1: cut out a working copy of the gene from normal DNA using a
restriction enzyme. OR use reverse transcriptase enzyme to make
a copy of the gene from CFTR mRNA
Step 2: add the gene to a vector, which will insert the new gene into
the DNA of the target cell
Step 3: hope the gene is successfully incorporated in the DNA in
the nucleus
Vectors are used to get the working gene into the epithelial cells.
Vector
Liposome
Virus
Explanation
An artificial vesicle. A little bubble of
membrane in which the CFTR gene is placed.
When the liposome is inhaled the gene can
enter the epithelial cell by endocytosis.
Viruses naturally insert their own DNA into
host cells DNA. So, if we remove the viral
DNA and replace it with the CFTR gene that
ought to be inserted instead.
Somatic Cells = Body cells. Somatic Cell Gene Therapy therefore

only affects the targeted cells
Germ Cells = Gametes. Germ Cell Gene Therapy therefore affects
the entire organism that is produced when the gamete is fertilised.
NB: Genetic engineering of bacteria is different and involves
plasmids and DNA ligase enzyme as well (look it up)
1.2.19
Genetic screening is used to determine whether a person has a
genetic disease or not.
Method
Amniocentesis
Chorionic villus
sampling
Pre-implantation
genetic diagnosis
(PIGD)
Summary
A long needle is inserted through the mothers
abdomen into the amniotic fluid of the developing
embryo. As this is produced by the embryo it will
contain embryionic cells and, therefore, embryo
DNA
As above, but cells are taken from the placenta,
which is also made by the embryo.
Gametes are fertilized in vitro (outside of the
body) and the resultant embryos are then tested.
Only embryos known NOT to have the disease are
implanted in the uterus.
1.2.20
Advantages of genetic testing
Can opt for termination
Can get counselling
Can buy special medical
equipment
/
care
in
preparation for birth
Can opt not to have children
(if parents are tested)
Utilitarian argument
Disdvantages of genetic testing

Abortion is morally wrong
Tests can be inaccurate
Small
chance
of
test
resulting in miscarriage
Unnatural procedure
Embryos right to life
Embryos
cannot
give
informed consent
End of Topic 2

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