Edexcel Biology Unit 1

Binuri Beneragama
 Chapter 1. Introduction to basic biology

Introducing biological molecule

Carbon, hydrogen, oxygen and nitrogen predominate in living things.

Why?
Living things contain large quantities of water, and also because most other molecules present in cells
and organisms are compounds of carbon combined with hydrogen and oxygen, including
carbohydrates and lipids.

Water

 Water forms between 65% and 95% by mass of most multicellular plants and animals.
(About 80% of human cell consists of water.)

 Water molecules are non-linear (triangular) and polar molecules; it

has both positively charged and negatively charged areas.
*Water is made up of two positively charged hydrogen atoms and one
negatively charged ion.

As a result of this polarity, adjacent water

molecules are attracted to and become
bonded to each other.
A hydrogen bond forms between them.

 The individual hydrogen bonds are weak but collectively they make water very stable.
(It remains a liquid over a huge range of temperatures, i.e. 0 – 100 °C.)

Solvent properties of water

 Ionic substances like sodium chloride (Na+ and Cl-) – all cations and anions become surrounded by a
shell of oriented water molecules.

 Carbon – containing (organic) molecules with ionised groups (such as the carboxyl group –COO-,
and amino group –NH3+) – soluble organic molecules like sugar dissolves in water due to formation
of hydrogen bonds with their slightly charged hydroxyl groups (–OH).

 Polar substances which dissociate in water are hydrophilic (e.g. NaCl).

 Some large molecules have strong intermolecular forces and do not dissociate in water.

 Non – polar substances are hydrophobic (e.g. oil)

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 Property Significance

A liquid at room temperature, water Liquid medium for living things and for the
dissolves more substances than any other chemistry of life (Essential role in transport of
common liquid. molecules).

High specific heat capacity (much heat Aquatic environment slow to change
energy is required to raise the temperature temperature.
of water. Bulky organisms have stable temperatures.

Evaporation requires a great deal of heat Evaporation causes marked cooling. Much
energy. heat is lost by evaporation of a small quantity
of water.

Much heat energy has to be removed before Cell contents and water in aquatic
freezing occurs. environment slow to freeze in cold weather.

With low viscosity, allows water to move

Water molecules adhere to surface. through tiny spaces, e.g. in soils, spaces in
cell walls etc.

Ice is at maximum density at 4 °C (less dense Ice forms on the surface of water, insulating
as a solid). the water below, and allowing aquatic life to
survive in freezing conditions.

Surface water molecules orientate with Water forms droplets and roll off surfaces.
hydrogen bonds formed inwards over the Certain animals exploit surface tension to
water surface. move.

Water molecules slide past each other easily. Water flows easily through narrow capillaries
(low viscosity).

Water can be lifted by forces applied at the

A water column does not break or pull apart top.
under tension. E.g. Drawn up xylem vessel of tree trunk by
force generated in transpiration from leaves

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 Water is transparent. Aquatic plants can photosynthesise at some
depth in water.

The carbon of organic compounds

Compounds containing carbon are organic compounds.

Exceptions; carbon dioxide, hydrogen carbonate ions and mineral calcium carbonate

Carbon is able to form four strong, stable, covalent bonds.

Dot – cross diagram for carbon dioxide.

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Carbohydrates

Carbohydrates are the largest group of organic compounds.

Examples; sugars, starch, glycerol and cellulose

 Carbohydrates contain three elements; carbon, hydrogen and oxygen, with hydrogen and oxygen
always present in the ratio 2:1.

 General formula for carbohydrates is Cx(H2O)y.

Functions of carbohydrates
 fuels for respiration (glucose)
 energy storage molecules (starch and glycogen)
 structural molecules (cellulose)

Description Examples Functions

Glucose Used in respiration

Fructose Found in fruits & honey
Monosaccharides Single sugar units. Ribose
Galactose Found in lactose

 Glucose, fructose and galactose are hexose sugars: C6H12O6

Maltose Found in germination

Disaccharides Two single sugars joined
Sucrose Crystals used in cooking
by a glycosidic bond.
Lactose Sugar found in milk

Starch Energy storage in plants

Many simple sugars and many other roles
Polysaccharides chemically combined
Glycogen Energy storage in animals
together.
Cellulose Structural role in plants

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Monosaccharides – the simple sugars

 They taste sweet

 They’re soluble

Glucose
Importance of glucose
 All green leaves manufacture glucose with the presence of sun light
 Our bodies transport glucose in the blood
 All cells use glucose in respiration – one of the respiratory substrates
 In cells and organisms, glucose is the building block for many larger molecules

Structure of glucose

 Formula is C6H12O6 (hexose).

 Glucose can be written on paper as a linear molecule but it cannot exist in this form.
It’s because each carbon arranges four bonds into a tetrahedron, so the molecule cannot be flat.

 Glucose ring contains five carbon atoms and an oxygen atom.

Molecular formula Structural formula Skeletal formula

Isomers of glucose

In the ring structure of glucose, the position of –H and –OH that are attached to carbon – 1 may
interchange, giving rise to two isomers, -glucose and -glucose.

 Other monosaccharide sugars produced by cells and used in metabolism include five – carbon
sugars (pentose), ribose and deoxyribose.

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Disaccharides

Made of two monosaccharides combined together.

E.g. Sucrose is formed from a molecule of glucose and a molecule of fructose.

Condensation and hydrolysis reactions

 Saccharides link together by condensation reaction, producing water.

The linkage between monosaccharides residues after the removal of H–O–H between then, is a
glycosidic linkage.
Glycosidic bond is a strong, covalent bond.

 Disaccharides digest to their component monosaccharides, by hydrolysis reaction.

This reaction involves adding water, as splitting glycosidic linkage occurs.

Apart from sucrose, other disaccharides are:

 Maltose, formed by two molecules of glucose.
 Lactose, formed by a molecule of glucose and a molecule of galactose.

Sucrose + water ⇌ glucose + fructose

Maltose + water ⇌ glucose + glucose

Lactose + water ⇌ glucose + galactose

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Polysaccharides (polymers)

Formed from many identical monosaccharides (monomers) connected by glycosidic linkage formed in
condensation reactions.

 They are macromolecules.

 Some polysaccharides function as store of energy; e.g. glycogen and starch.

Other polysaccharides have a structural role; e.g. cellulose and chitin.

 They are not easily hydrolysed by enzyme action.

Starch

 It is a mixture of two polysaccharides, both of which are polymers of -glucose.

 Found in amyloplasts inside plant cells for energy storage.

 Made of amylose and amylopectin.

o Amylose molecule is a very long chain of glucose molecules with 1, 4 glycosidic bonds.
o Amylopectin has branch at points along its chain, with 1, 4 and 1, 6 bonds.

 Insoluble and very compact.

 The whole starch molecule is stabilised by many hydrogen bonds between parts of the component
glucose molecules.

 Starch is the major storage carbohydrate of most plants, and is an important energy source in the
diet of many animals.

 Readily hydrolysed to form sugar when required.

 Breaking starch molecules into short lengths make them easier to dissolve.

Test for starch:

Iodine turns brown to blue/black colour in the presence of starch.

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Glycogen
 Polymers of -glucose, joined by 1, 4 and 1, 6 glyosidic bonds.

 Chemically similar to amylopectin, although larger and more highly branched.

 Granules of glycogen are found in liver cells and muscle fibres for energy storage, except in the
brain where there are virtually no energy reserves.

 During vigorous exercises glycogen reserves are drawn first. Only when these are exhausted does
the body start to metabolise stored fat.

 Insoluble (does not diffuse out of cells).

 Very compact, thus good for storage (allows the storage of large quantities of glucose in a small
space in a cell).

 Readily hydrolysed.

Test for saccharides:

Benedict’s solution turns blue to brick red colour in the presence of a reducing sugar.
Non – reducing sugars (disaccharides and polysaccharides) will give a positive result to Benedict’s if
heated in acid first.

Lipids

At room temperature, oils are liquid and fats are solid.

 Lipids contain three elements; carbon, hydrogen and oxygen with proportion of oxygen being much
smaller.

 Insoluble in water (hydrophobic) but can be dissolved in organic solvents such as alcohol and
propanone (acetone).

Triglycerides

Functions of triglycerides
 Long term energy storage molecules
 Insulation
 Pericardium protection
 Synthesis of steroids

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Formation of triglycerides
Triglycerides are formed in condensation reactions between one glycerol and three fatty acids, linked
by an ester bond.

 Hydrophobic properties of triglycerides are due to the hydrocarbon tails of the fatty acids.
A molecule of triglyceride is quite large, but relatively small when compared to polymer
macromolecules such as starch.

Because of their hydrophobic properties, triglyceride molecules clump together into huge globules
in the presence of water, making them appear to be macromolecules.

Saturated and unsaturated lipids

 Saturated fats contain no carbon – carbon double bonds. Straight chain.

The ratio of H:C is higher in saturated fats.
Main constituent of butter, suet and cocoa powder.
E.g. Palmitic acid, stearic acid

 Unsaturated fats contain carbon-carbon double bonds. Bent chain.

E.g. Oleic acid in olive oil and grapeseed oil

 Monounsaturated fats contain one double bond. E.g. Olive oil

 Polyunsaturated fats contain two or more double bonds. E.g. Vegetable oil and fish oil

 If one of the fatty acids in a triglyceride is replaced with a phosphate group, a phospholipid is
formed. These molecules make up part of the cell membrane.

 Cholesterol is a short lipid molecule with a structure very different to a triglyceride.

 The C=C bonds form kinks in the fatty acid chains, pushing adjacent triglycerides away from each
other. This lowers the effect of intermolecular forces, lowering the boiling and melting
temperatures.

Test for triglycerides:

o Add ethanol
o Add water
A white precipitate indicates a positive result.

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Introducing cells

Cell membrane – structure and function

Cell structure Role

Nucleus Structure that control and directs the activities of the cell
Cytoplasm Site of metabolism
Holds the cell content together, and is a barrier to substances
Plasma membrane
entering and leaving cell

Plasma membrane

Cell (plasma) membrane is made up of a phospholipid bilayer.

 It maintains the integrity of the cell.

 It is described as a mosaic because the proteins are clearly scattered about in this pattern, and fluid
because the components are able to move past each other in a linear plane.

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Evidence for the model of membrane structure

1) Cell contents are observed to flow out when the cell surface is ruptured.
This means that there is a presence of a physical barrier around the cytoplasm.
Under normal circumstances, it is well able to contain and protect the cell contents.
E.g. in red blood cell

2) Polar compounds enter cells less readily than non-polar compounds.

This shows that lipids are a major component of the plasma membrane.

3) Lipids obtained from cell membrane consist of a phospholipid.

Phospholipid has a ‘head’ composed of a glycerol group, to which
is attached one ionised phosphate group (hydrophilic), and ‘tails’
which are two long fatty acid residues containing hydrocarbon
tails (hydrophobic).

4) With a small quantity of phospholipid in contact with water, these

molecules form a monolayer that floats with the hydrocarbon tails
exposed above the water.

When more is available, the molecules arrange themselves as a

bilayer, with the hydrocarbon tails facing together.
In the lipid bilayer, attraction between the hydrophobic tails on the inside, and between
hydrophilic heads and the surrounding water molecules result in a stable, strong barrier.

5) Amount of lipids present in the plasma membrane is insufficient in total to cover the whole of the
cell surface in a bilayer.
 Protein is also present as a major component.
Proteins of plasma membranes are globular proteins.

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6) Extraction of protein from plasma membrane can be easy if they occur on the external layer.
If they occur buried within or across the bilayer, extraction is difficult.

7) Proteins that occur partially or fully buried in the bilayer are integral proteins.
Those that are attached on either surface of the bilayer are peripheral proteins.
Membrane proteins may be channels for transport of metabolites, or enzymes or carriers, and
some may be receptors or antigens.

8) Component molecules within membranes ae continually on the move.

 Membrane structure can truly be described as a ‘fluid’.

9) Lipid bilayers contain cholesterol, in addition to phospholipids.

 Cholesterol disturbs the close-packing of the phospholipids, increasing the flexibility of the
membrane

10) On the other surface of the cell, polysaccharides form complexes with certain of the membrane
lipids (forming glycolipids) and proteins (glycoprotein).
 Glycolipids are responsible for cell-cell recognition
 They are receptor sites for chemical signals

Movement across the plasma membrane

 Into and out of cells pass water, respiratory gases, nutrients (e.g. glucose), essential ions and
excretory products.

 Cells secrete substances such as hormones and enzymes, and receive growth substances and
certain hormones.

 Plant cells secrete the chemicals that make up their walls through their membranes.

 Certain mammalian cells secrete structural proteins such as collagen.

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Diffusion

Diffusion is the movement of molecules or ions from a region of their high concentration to a region of
low concentration, down a concentration gradient (passive process).

 Where a difference in concentration has arisen between areas in a gas or liquid, random
movements carry molecules from a region of high concentration to a region of low concentration.
As a result, the particle becomes evenly dispersed.

 Energy for diffusion comes from the kinetic energy of molecules (‘kinetic’ means that a particle has
this energy because of it continuous motion).

 Hydrophilic molecules and ions cannot penetrate the hydrophobic phospholipid tails.

Conditions for diffusion in cells

1) Plasma membrane should be fully permeable to the solute

o The lipid bilayer of the plasma membrane is permeable to non-polar substances, including
steroids and glycerol, and also oxygen and carbon dioxide in solution.

2) Pores in the membrane must be large enough for a solute to pass through
o Water diffused across the plasma membrane via the channel proteins, and via tiny spaces
between the phospholipid molecules.

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Facilitated diffusion

Facilitated diffusion is a movements of particles down a concentration gradient which does not require
ATP but requires two membrane proteins.

1) Channel proteins
o Span the membrane and have a specific shape to transport specific particles (form into pores
large enough for diffusion – and close up again when that substance is no longer present).

2) Carrier proteins
o Bind with the molecules or ions, change shape and transport the particle across the membrane.
Movement can occur in either direction, depending on their concentration gradient.

 In facilitated diffusion, the energy comes from the kinetic energy of the molecule involved. Energy
from metabolism is not required (passive process).

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Osmosis

Osmosis is the net movement of water molecules from a region of high water potential to a region of
lower water potential, down a concentration gradient (passive process), through a partially permeable
membrane (membrane is permeable to water).

Why osmosis happens

 Dissolved substances attract a group of polar water molecules around them.

The forces holding water molecules are weak chemical bonds, including hydrogen bonds.
*Tendency for random movements by these dissolved substances and their surrounding water
molecules is restricted.

 The stronger the solution (more solute dissolved per volume of water), the larger the number of
water molecules that are slowed up and held almost stationary (In pure water, all of the molecules
are free to move about randomly).

 When a solution is separated from water by a membrane permeable to water molecules, water
molecules free to move diffuse, while dissolved molecules and their groups of water molecules
move less.
 There is a net flow of water into a concentrated solution, from water or a weaker solution,
across the membrane.

Osmosis in cells

 When a plant cell is placed in a solution of higher water potential, the cell contents will expand.
But it will not burst since it is surrounded by a strong cell wall. The cell contents will push against
the cell wall, and the cell will become turgid.

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 If a plant cell is placed in a solution of lower water
potential, water will diffuse out.
This causes the cytoplasm to shrink and
become flaccid. If much water leaves, the
cytoplasm will pull away from the cell wall. The cell
will become plasmolysed.

 Animal cells will also expand when they are placed

in a solution of higher water potential.
Since animal cells do not have cell walls, if this
happens excessively the cell will burst open and
become haemolysed.

Active transport

Active transport is movement of molecules or ions from a region of their lower concentration to a
region of their higher concentration – against a concentration gradient.

 Require ATP (adenosine triphosphate) as the energy source.

Features of active transport that are different from diffusion

1) Active transport can occur against a concentration gradient

o The reserves of useful molecules and ions in the cytoplasm of a cell (such as nitrate ions in plant
cells, calcium ions in muscle fibres) do not escape – the cell membrane retains them inside the
cell.
o But when more of those or other useful molecules/ions become available for uptake, they are
actively absorbed into cells.
This happens though the concentration gradient outside is lower than inside.

2) Active uptake is highly selective

o For example, when potassium chloride is available to an animal cell, K+ ions are more likely to
be absorbed, since they are needed by the cell.
o Where sodium nitrate is available to a plant cell, it is likely that more of NO3- ions are absorbed
than the Na+, since this too reflects the need of the cell.

3) Active uptake involves ‘pumps’

o The pump molecule (carrier protein) picks up particular ions and molecules and transports
them to the other side of the membrane, where they are released.
o Movements by these carrier proteins require reaction with ATP; this reaction supplies
metabolic energy to the process.
o Most carrier proteins are specific to particular ions and molecules.
*If the carrier protein for a particular substance is absent, the substance will not be transported.

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Examples of active transport:
 Active transport of ions by plant roots
 In mammalian gut where absorption occurs
 In kidney tubules where urine is formed
 In nerve fibres where an impulse is propagated

 The protein pumps of plasma membranes are of different types.

Some transport a particular molecule or ion in one direction, while other transport two substances (e.g.
Na+ and K+) in opposite directions.
Occasionally, two substances are transported in the same direction; for example, Na+ and glucose
during the absorption of glucose in the small intestine.

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Bulk transport

Bulk transport is the movements of macromolecules into or out of the membrane, against a
concentration gradient (require ATP), by cytosis.

Endocytosis involves uptake of substances by creation of a vesicle.

Exocytosis involves exports of substances (e.g. insulin into the blood).
Vesicles (small membrane sacs) fuse with the cell surface membrane and the contents are released.

 The strength and flexibility of the fluid mosaic membrane makes this activity possible.

 When a matter is take in, part of the plasma membrane at the point where the vesicle forms is
pulled inwards and the surrounding plasma membrane and cytoplasm bulge out.
The matter thus become enclosed in a small vesicle.

Bulk transport of solids: phagocytosis

Bulk transport of liquids: pinocytosis

 In the human body, there are large number of phagocytic cells, which are called the macrophages.
The macrophage engulf the debris of damaged or dying cells and dispose of it.
E.g. 2 x 10” red cells broken down each day are ingested and disposed of macrophages, every 24
hours.

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Gas exchange and internal transport in animals
In small unicellular organisms, substances move around by diffusion, although some substances are
requires to be transported across a membrane by active transport.

Diffusion is too slow to move substances around the larger bodies of multicellular organisms – an
internal transport system is required (overcoming the limitations of diffusion – mass transport).

The more active an organism, the higher the rate at which nutrients are required by its cells, and so a
greater need for an efficient internal transport system.

Gas exchange in animals

Animals and plant cells respire aerobically – they take in

oxygen from their environment and give out carbon dioxide
by the process gas exchange.

 Gas exchange in cells occur by diffusion.

 In cells respiring aerobically there is a higher

concentration of oxygen outside the cell than inside, and
so there is a net inward diffusion of oxygen.

Factors that speed up diffusion

1) Surface area (respiratory surface)

o Greater the surface area, greater the rate of diffusion.
In a single cell, the respiratory surface is the whole plasma membrane.

2) Difference in concentration
o Greater the concentration gradient across the respiratory surface, greater the rate of diffusion.
A rapidly respiring organism will have a much lower concentration of oxygen in the cells and a
higher than normal concentration of carbon dioxide.

3) Length of diffusion path

o Shorter the diffusion distance, greater the rate of diffusion.
Respiratory surface must be as thin as possible.

Respiratory surface – size and shape of organisms

The amount of gas needs to exchange is largely proportional to its volume, but the amount of
exchange that can occur is proportional to its surface area over which diffusion takes place.
E.g. Surface area-to-volume ratio is very high for unicellular organisms, and this make gas exchange
more efficient

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 The larger the object, the smaller its surface area-to-volume ratio.

 A thin and flat shape has a large surface area-to-volume ratio and therefore gas exchange is
extremely efficient.

Specialised respiratory systems

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Respiratory system in large animals

Active organisms have an increased metabolic rate, and the demand for oxygen in their cells is higher
than in sluggish and inactive organisms.

Conditions for diffusion are often improved by three refinements:

1) Ventilation mechanism
o A pumping mechanism that moves the respiratory medium over the gills or into and out of the
lungs or tubes, maintaining the concentration gradient for diffusion.

2) Blood circulatory system

o A mean of speeding up the removal of dissolved oxygen from the respiratory surface as soon as
it is diffused in, maintaining the concentration gradient.

3) A respiratory pigment
o Which increases the gas-carrying ability of blood – for example, blood contains red blood cells
packed with respiring pigment haemoglobin.

Working lungs of mammals

Lungs are housed in the thorax, an air-tight chamber formed by the rib-cage and intercostal muscles, a
diaphragm.
Diaphragm separates thorax from abdomen.

Internal surfaces of the thorax are lined by the pleural membrane, which secretes and maintains the
pleural fluid.
Pleural fluid is a lubricant derived from the blood plasma.
 Protects the lungs from friction during breathing movements

 The lungs connect with the pharynx at the rear of the mouth by the trachea.

Air reaches the trachea from the mouth and nostrils, passing through larynx.
Entry into the larynx is via a slit-like opening, glottis.
Above is a cartilaginous flap, epiglottis.
 Glottis and epiglottis prevent food from entering into the trachea

 The trachea initially runs beside the oesophagus.

 Incomplete rings of cartilage in the trachea wall prevent collapse under pressure from a large
bolus passing down the oesophagus

 The trachea then divides into two bronchi, one to each lung.
Within the lungs the bronchi divide into smaller bronchioles.
The finest bronchiole end in alveoli.

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The walls of bronchi and larger bronchioles contain smooth muscles, and are also supported by rings or
tiny plates of cartilage.
 Prevent collapse that might be triggered by a sudden reduction in pressure that occurs with
powerful inspiration of air

Ventilation of the lungs

Air is drawn into the alveoli when the air pressure in the lungs is lower than atomospheric pressure.
Air is forced out when pressure is higher than atmospheric pressure.

 Since the thorax is an air-tight chamber, pressure changes in the lungs occur when the volume of
the thorax changes.

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 Inhalation Exhalation
Muscles contract – flattening the Muscles relax – abdominal contents
diaphragm, pushin down on contents Diaphragm pushes the diaphragm back up into the
of abdomen dome shape
Contract, moving rib-cage up and out External intercostal Relax
muscle

Relax Internal intercostal Contract, moving rib-cage down and in

muscle
Increases Volume of thorax Decreases

Falls below atmospheric pressure Air pressure of Rises above atmosoheric pressure
thorax
In Air flow Out

Alveolar structure and gas exchange

 Lung tissues consist of alveoli, arranged in clusters, each served by a bronchiole.

 Alveoli have elastic connective tissues as an intergral part of their walls.

 A capillary system wraps around the clusters of alveoli.

Each capillary is connected to a branch of the pulmonary artery and drained by a branch of the
pulmonary vein.

 The pulmonary circulation is supplies with deoxygenated blood from the right side of the heart,
and oxygenated blood is returned to the left side of the heart to be pumped to the rest of the body.

 There are some 700 million alveoli present in our lungs, providing surface area of about 70 m2 in
total.

 Wall of an alveolus is one cell thick, formed by pavement epithelium.

*An epithelium is a sheet of cell bound strongly together, covering internal or external surfaces of
multicellular organisms.

 Lying very close is a capillary. The combined thickness of walls separating air and blood is typically
5 m thick.
Capillaries are narrow, just enough for red cells to squeeze through, so red cells are close to or in
contact with the capillary walls.

 Blood arriving in the lungs is low in oxygen and high in carbon dioxide.
As blood flows past the alveoli, gas exchange occurs by diffusion.

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 Oxygen dissolves in the surface film of water, then diffuses across into the blood plasma and into
the red cells where it combines with haemoglobin to form oxyhaemoglobin.

At the same time, carbon dioxide diffuses from the blood into air in the alveolus.

Percentage of each gas present/%

Inspired air Alveolar Expired air
Oxygen 20 14 16
Carbon dioxide 0.04 5.5 4.0
Nitrogen 79 81 79
Water vapour Variable Saturated Saturated

Transport in animals

Mammals have a closed circulatory system in which blood is pumped by a heart and circulated in a
continuous system of tubes – arteries, veins and capillaries – under pressure.

Double circulation (e.g. in mammals and birds)

 Right ventricle pumps deoxygenated blood to lungs.

Blood returns to the left atrium and then the left ventricle pumps oxygenated blood to the rest of
the body.

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 Blood travels around the body faster, delivering the nutrients faster so the animals have a higher
metabolic rate.

 As blood pass twice through the heart in every single circulation of the body, this is called the
double circulation.

Single circulation (e.g. in fish)

 Blood flows only once through the heart in every circulation of the body.

 Heart pumps blood to gills for gas exchange, then to tissues and back to the heart.

Open circulation (e.g. in insects)

 Blood is pumped out by sinuses, where it baths the body organs directly, but under very low
pressure.

From the body organs, the blood re-enters the heart through openings controlled by valves, and it
is re-circulated.

 In many insects, air is delivered directly to the respiring tissues using trachea.

Double circulation in mammals

Advantages of the mammalian circulation

 Oxygenated blood is delivered at high pressure to all regions of the body simultaneously.
 Oxygenated blood reaches the respiring tissue undiluted by deoxygenated blood.

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Transport medium – the blood

Blood is a special tissue consisting of a liquid medium, plasma in which are suspended red cells
(erythrocytes), white cells (leucocytes) and platelets.

Component Role

Transport of:
o nutrients from gut or liver to all cells
o excretory products from liver to kidneys
o hormones from endocrine glands to all
Plasma tissues and organs
o dissolved proteins that have roles including
regulating osmotic concentration of the
blood
o antibodies
o heat to all tissues

Transport of:
o oxygen from lungs to respiring cells
Red cells o carbon dioxide from respiring cells to lungs
(also carried in the plasma)
o Lymphocytes have a major role in the
immune system, including forming
White cells antibodies
o Phagocytes ingest bacteria or cell fragments

Platelets Involved in the blood clotting mechanism

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Plumbing of the circulatory system – arteries, veins and capillaries

Arteries

 Carry high-pressure blood away from the heart.

 Thick walls to withstand high-pressure blood.

Strength of the walls comes from the collagen fibres present.

 Elastic tissue allows artery to stretch when blood is forced into it.
Elastic layer recoils during diastole, so there is a continuous blood flow.
Elasticity is due to the elastic fibres and involuntary muscle fibres.

 They have a relatively small (smooth) lumen.

 They have no valves.

Veins

 Carry low-pressure blood towards the heart.

 Thin muscle layer.

 They have valves to prevent backflow.

 They have a protective collagen layer.

 Not a round shape (wall not thick enough to hold shape).

 Large lumen (decreases effect of friction).

Capillaries

 Adapted for efficient gas exchange.

 Walls are one endothelial cell thick (small diffusion distance).

 Lumen is the same width as one RBC ( therefore more of RBC in contact
with the wall, so smaller diffusion distance).

 No muscle or elastic fibres.

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Arrangement of arteries and veins

 Right side of the heart pumps deoxygenated blood to the lungs.

 Left side pumps oxygenated blood to the rest of the body.

 Pulmonary circulation: Arteries, veins and capillaries serving the lungs.

 Systemic circulation: Arteries, veins and capillaries serving the body.

Systemic circulation

 Organs are supplied with blood by aorta.

 Within individual organs, arteries branch into numerous arterioles, and the smallest arterioles
supply the capillary networks.

 Capillary drain into venules, and venules join to form veins.

 Veins join the vena cava carrying blood back to the heart.

Order:
Aorta  artery  arteriole  capillary  venule  vein  vena cava

28
Blood clotting mechanism

Blood clot prevents the danger of blood loss and possibility of a fall in blood pressure when injured or
in any event of a break in closed blood circulation.

Process:
1. Platelets collect at the site.
2. Collecting platelets release thromboplastin (clotting factor), which is also released by damaged
tissues at the sites.
3. Thromboplastin, along with vitamin K and calcium ions, causes prothrombin (plasma protein) to be
converted into thrombin (proteolytic enzyme).
4. Thrombin converts fibrinogen (another blood protein) into fibrin fibres at the site.
5. Fibrin forms long fibres. Platelets and red blood cells get tangled in the fibres.

29
 Clot formation is not normally activated in the intact circulation; clotting is triggered by the
abnormal conditions at the break (fail-safe mechanism).

 Casual formation of a blood clot within the intact circulatory system immediately generates the risk
of a dangerous and possibly fatal blockage in the lungs, heat muscles or brain.
Thus, the fail-safe mechanism is important.

The heart as a pump

 Found in the thorax between the lungs

and beneath the breast bone, anchored
within by pericardium.

 Cavity is divided to four chambers; right

side of the heart completely separate
from the left.

 Upper chambers are thin-walled atria.

Lower chambers are thick-walled
ventricles.
Muscular wall of the left ventricle is
much thicker than that of the right
ventricle (left ventricle pumps to the
body, right only to the lungs).
Volume of both sides are identical.

 Walls of the heart (heart muscle) are supplied with oxygenated blood via coronary arteries.
These arteries, and the capillaries they serve, deliver oxygen and nutrients essential to the heart
muscle fibres.

 Valves of the heart prevent backflow of the blood,

Atrioventricular valves prevent backflow from ventricles to atria.

Valves on the right side of the heart: tricuspid valve

Valves on the left side of the heart: bicuspid valve

Semilunar valves prevent backflow from pulmonary artery and aorta

into ventricles as the ventricles relax between the heart beats
(ventricles are separated from pulmonary artery and aorta by
semilunar valves).

30
Action of the heart – cardiac cycle

Heart normally beats about 75 times per minute, approximately 0.8 seconds per beat.

As the muscular walls of chamber of the heart contract, the volume of that chamber decreases.
This increases the pressure on the blood contained there, forcing the blood to a region where pressure
is lower.

Atrial systole
o Pressure in the atria increases as they fill with blood returning from veins.
o Increased pressure opens the atrioventricular valves allowing blood to enter the ventricles.
o Atria contract to force the remaining blood into ventricles (past the bicuspid valves).
o Contraction also prevent backflow by blocking off the veins which brought the blood to the heart.

Atrial diastole
o Atria relax, and the pressure in atria drops.
o Blood is drawn into the atria and opens the bicuspid valve as it starts to flow into the ventricle.

Ventricular systole
o Ventricles contract, increasing the pressure and closing the atrioventricular valves.
o Semilunar valves open, and blood is forced into the aorta.
o A pulse is generated.

Ventricular diastole
o Ventricles relax, and the pressure in ventricles drops.
o Semilunar valves close (caused by pressure of blood in aorta).

31
Initiation and conduction pathways of the heartbeat
 Cardiac muscle contracts without being stimulated by a nerve impulse.

 Electrical charge in the heart muscle change – depolarisation.

 When cells are depolarised, there is a small current detectable on the skin.

 This is measured in an electrocardiogram (ECG) which can be used to diagnose cardiovascular

diseases.

Exchange in the tissues – formation of tissue fluids

Importance of tissue fluids

 delivery of nutrients to cells
 removal of waste products

32
 Tissue fluid is formed from the plasma, component of which escape from blood and pass between
the cells in most of the tissues of the body.

 Walls of the capillaries are selectively permeable to many components of the blood plasma,
including glucose and mineral ions.

 Pressure of the blood drives fluid out.

Meanwhile, the proteins and some other components are retained from the blood.
These soluble substances maintain an osmotic gradient, so some of the water forced out by
hydrostatic pressure returns to the blood by osmosis all along the capillary.

 Initially there is a net outflow because the hydrostatic pressure is greater than fluid movement due
to the osmotic gradient.

Return of tissue fluids to the circulation

Further along the capillary, there is a net inflow of tissue fluid to the capillary.
Hydrostatic pressure has now fallen as fluid is lost from capillaries. Water returns by osmosis, and a
diffusion gradient carries unusual metabolites and excretory materials back into the blood.

 Not all tissue fluid return to capillaries – some enter the lymph capillaries.
Molecules too large to enter blood capillaries can pass into the lymph system at tiny valves in the
vessel walls.

 Liquid is moved along these capillaries by compression due to body movements.

Lymph finally drains back into the blood circulation in vein close to the heart.

Oedema
If formation of tissue fluid greatly exceeds reabsorption, the result is a much increased volume of
tissue fluids, which results in swelling (oedema).
This condition arises due to either hypertension, or increased permeability of capillary walls.
33
Disease of the human circulatory system

Cardiovascular disease (CVD): Disease of the heart and blood vessels.

Atherosclerosis

A disease where fatty deposits cause a blockage in an artery by thrombosis (blood clot), reducing the
blood flow and depriving that particular area of oxygen.

Development:
1. Endothelial damage (e.g. by high blood pressure or smoking)
o Healthy arteries have pale, smooth linings and the walls are elastic and flexible.
o Unhealthy arteries have walls having strands of yellow fat deposits under the endothelium.
With the fatty streaks, fibrous tissue is laid down as well.

2. Inflammatory response
o Where the smooth lining breaks down, the circulating blood is exposed to the fatty, fibrous
deposits. Further deposition occurs as cholesterol and triglycerides accumulate.
o Blood platelets collected at the exposed roughened area release factors that trigger
inflammation that includes blood clotting.
o A blood clot, thrombus may form within the vessel.

3. Plaque formation
o Atherosclerotic plaques are fatty, fibrous deposits.
o Further deposition of plaques occur, as cholesterol and triglycerides accumulate.
o Smooth muscle fibres and collagen fibres build up in the plaque.
Now the artery is less elastic, it has hardened.

4. Raised blood pressure

o Fat deposits start to disturb the blood flow, and raise blood pressure.
o Thickening of walls of arteries leads to loss of elasticity, and this too contributes to raised blood
pressure.
o In coronary arteries, reduced blood flow impairs oxygenation of the cardiac muscle fibres,
leading to angina.

34
Myocardial infarction, stroke & aneurysm

Myocardial infarction (heart attack)

An embolus (blockage-causing material which has been carried in the bloodstream that causes
embolism, e.g. a blood clot) may be swept into a small artery or arteriole which is narrower than the
diameter of the clot, causing a blockage.
Immediately, the blood supply to the tissues downstream of the block is deprived of oxygen.

If coronary arteries are affected in this way, heart muscles die, and the heart may cease to be an
effective pump. This is myocardial infarction.
*Damaged coronary arteries can be surgically by-passed.

Stroke

When an embolus blocks an artery in the brain, a stroke occurs.

Neurons of the brain depend on a continuous supply of blood for oxygen and glucose.
Within a few minutes of the blood supply being lost, the neurons affected will die.
*Neurons cannot be replaced.

Aneurysm

In arteries where the walls have been weakened by

atherosclerosis, the remaining layers may be stretched
and bulge outwards under the pressure of the blood
pulses.
Ballooning of the walls like this is called an aneurysm.
*An aneurysm may burst any time, resulting a
hemorrhage.

35
Factors affecting CHD (coronary heart diseases)

Uncontrollable risk factors

Increasing age
o Risk of CHD increases with age.

Genetic
o Children of parents with heart diseases are more likely to develop the condition.
o Some races are more prone to CHD and strokes – e.g. Afro-Caribbean people are more likely to
develop CHD.

Gender
o Possession of a Y chromosome predisposes to greater risk of CHD than that carried by
females.

Controllable risk factors

Hypertension
o It causes heart to enlarge and weaken with time.
It also causes damage to blood vessels, allowing atherosclerosis to be developed easily.
o Brain and kidneys are also damaged, without noticeable discomfort.
o It makes a brain hemorrhage more likely.

Normal blood pressure (for adults): 120 systole/80 diastole

High blood pressure: > 140 systole/90 diastole

Smoking
o Carbon monoxide prevents haemoglobin from carrying oxygen – heart rate increases.
o Nicotine stimulates adrenaline release, increasing heart rate and causes vasoconstriction resulting
in raised blood pressure.
o Decreases HDL (high-density lipoprotein) levels.

Alcohol
o Heavy drinkers have an increased risk of CHD as alcohol raises blood pressure, contributes to
obesity, and causes irregular heartbeat.
o Moderate amount may increase HDL levels.
o Large amount increases LDL (low-density lipoprotein) levels.

Diabetes
o People with this condition require close monitoring of their blood pressure and blood glucose to
ensure they are continually controlled within safe parameters.

36
Stress
o Leads to raised blood pressure, poor diet and increased alcohol consumption.

Inactivity
o Moderate physical activity helps prevent CHD.
o Regular vigorous physical activity is more beneficial because it
helps prevent obesity.

BMI = Mass/Height2

Diet
o High levels of cholesterol in the blood increases the risk of developing CHD.
Most cholesterol is transported as LDLs, but an excess of these in the blood stream might block the
main receptor points in the cell leaving even higher quantities of LDLs circulating in the blood
plasma.
The excess is then deposited under the endothelium of artery walls, beginning/enhancing plaque
formation.

o Monounsaturated fats help remove LDLs circulating in the blood plasma, and polyunsaturated
fats increase efficiency of the receptor site at removing LDLs from blood.

Dietary issues

 High salt level causes the kidneys to retain water, raising blood pressure.
(Recommended level  No more than 6 grams a day)

37
 Some vitamins act as antioxidants, reducing the damage of free radicals.
Free radicals can rapidly damage important cell components.
People with low intake of antioxidants have higher risk of developing diseases such as various
cancers and heart diseases.

Further notes on cholesterol

Insoluble cholesterol is transported combined with proteins to form two types of soluble lipoproteins.
(They form into vesicles.)
1) High-density lipoproteins (HDLs)
o Contain more proteins and transport unsaturated fats to the liver where they are broken down.
o Reduce blood cholesterol deposition.
 Healthy (‘Good cholesterol’)

2) Low-density lipoproteins (LDLs)

o Associated with saturated fats.
o Overdose membrane receptors and reduce cholesterol absorption from the blood.
o Associated with the formation of atherosclerosis plaques.
o Saturated fats reduce the activity of LDL membrane receptors and therefore increase blood
cholesterol levels.
 Unhealthy (‘Bad cholesterol’)

Treatments to prevent CVD – benefits and risks

Antihypertensive medications
Benefit
 Blood pressure is reduced

Risks
 If dosage is not correct blood pressure may become too low
 Side effects

Diuretics:
o Reduce blood pressure by decreasing blood volume.
o Enhance the diuretic activity of the kidneys, increasing volume of water that is to be eliminated
from the body.
o Patients on daily diuretics have annual blood test to check that kidney function is not disturbed.
ACE inhibitors:
o Reduce blood pressure by enhancing vasodilation.
When arteries are more dilated, the volume of the circulatory system is increased and so the
pressure is lowered.

38
 blockers:
o Reduce blood pressure by reducing heart rate.

Calcium-channel blockers:
o Widens blood vessels, allowing more blood to flow at reduced pressure.

Plant statins
Plant statins inhibit an enzyme in the liver that synthesises cholesterol (HMG-CoA reductase).

Benefits
 Levels of cholesterol are lowered
 Raises HDL levels

Risks
 Liver failure
 Muscle inflammation
 Kidney failure
 Nausea

Anticoagulants
Anticoagulants inhibit blood clotting.

Benefit
 Reduce the risk of forming a blood clot in the circulatory system

Risk
 Blood clots slowly or not when it should

Platelet-inhibitory drugs
Platelet-inhibitory drugs reduce the activation of platelets.

Benefit
 Reduce the risk of forming a blood clot in the circulatory system

Risk
 Aspirin (a platelet-inhibitory drug) affects the stomach wall, thus the risk of developing stomach
ulcers increases

39
Investigating risk
Risk is the probability of occurrence of some unwanted event or outcome.
o A time period is always quoted.
o Not all individuals are at risk to the same degree.
o Risk factors increase the chance of the harmful outcome.

Factors that contribute to health risks

1) Heredity
2) Physical environment
3) Social environment
4) Lifestyle and behavior choices

 Two factors are positively correlated if an increase in one is accompanied by an increase in the
other.

 A positive correlation does not necessarily mean that the two are casually linked.

 People overestimate the risk of something happening if the risk is not under control, unnatural,
unfamiliar, dreaded, unfair or very small.

 People underestimate the risk if it has an effect in the long-term future.

Getting the diet right for heath

A balanced diet consists of the essential nutrients in the correct proportions.

Food should provide an appropriate amount of the following six components on a regular basis.

1) Metabolic fuel
o Normally supplied from carbohydrates and lipids.
o Chemical in all of these fuels are transferred by respiration.
 Energy source

Amount of energy required depends on:

 Physical activity
 Age – rapid growth that occurs in adolescence makes an additional demand of about 0.8kJ
per hour.
 Gender – usually females require less energy than males, but during pregnancy and during
lactation, female requirements are greatly increased.

2) Combined nitrogen
o Taken in as proteins or amino acids in the diet.
 Required for the building of proteins
40
3) Water
o 70% – 90% of the body is water.

4) Roughage/dietary fibre
o Mostly of plant origin.
o High-fibre diet obtained from fruits and vegetables is positively correlated with a lowered risk of
gut cancers and of CHD.
o Cannot be digested.
 Stimulates food movement through the alimentary canal

5) Essential minerals
o Include major minerals like calcium, iron and phosphate ions.
 Needed for the construction of body tissues

6) Vitamins
o Required in tiny amounts.
o Vitamin cannot be manufactured in the body, so require it in foods.
o Vitamin C is obtained from vegetables and citrus fruits.
o Deficiency symptoms of vitamin C are scurvy, bleeding gums, and poor wound healing.
 Most function as coenzymes in the body

Investigating vitamin C content of food and drinks

Process:
1. Extract juice from the food/drink suspected to contain vitamin C.
2. Add the extracted juice (drop by drop) to DCPIP.
3. Carry out a rough titration of juice until a colour change can be observed – blue to colourless
(colourless to blue if DCPIP was added to juice).
4. Record the volume/number of drops of juice added.
5. Calculate the amount of vitamin C in a standard solution.

41
 Chapter 2. Introducing genetics
Proteins and enzymes
 Proteins make up about two-thirds of the total dry mass of a cell.

 Contain nitrogen and sulphur in addition to carbon, oxygen and hydrogen.

 Amino acids are molecules from which peptides and proteins are build – when a polypeptide is
about 50 or more amino acid residues long it is a protein.

 Shape of a protein is closely related to their function.

Amino acids

Amino acids carry two groups; amino group (–NH3) and organic acid group (carboxyl group, –COOH).

These groups are attached to the same carbon atom in the amino acids.
Also attached here is a side part of the molecule, R group.

 Some amino acids have an additional –COOH group in their side chain (acidic amino acids).

 Some have an additional –NH3 group (basic amino acids).

42
Peptide linkage

 Polypeptides and proteins are formed by amino acid monomers linked by peptide bond (linkage) in
condensation reaction.
Amino group reacts with carboxyl group of the other.

43
Structure of proteins

1) Primary structure
o Sequence of amino acid in the polypeptide chain.
o Proteins differ in the variety, number and order of their constituent amino acids.
o Order of amino acids in the polypeptide chain is controlled by genes.
o Just changing one amino acid in the sequence may alter its properties completely (mutation).
o Most proteins do not function in their primary form.

2) Secondary structure
o It develops when parts of the polypeptide chain takes up a particular shape, immediately after
formation at ribosome.
o Parts of the chain become folded.
o Most common shapes are formed either by coiling to produce an  helix or folding into
 sheets.
These shapes are permanent, held in place by hydrogen bonds.

44
3) Tertiary structure
o It is the final 3D shape of the molecule.
o This shape is made permanent by four types of bonding; hydrogen bonds, van der Waals bonds,
ionic bond and disulphide bonds.
*Hydrogen bonds are weak, but they help to stabilise the protein molecule.

4) Quaternary structure
o If the protein contains two or more polypeptide chain.
E.g. haemoglobin – consists of four polypeptide chains held around a non-protein haem group.

 Fibrous proteins – long, much coiled chains, which are important structural molecules, and
are insoluble.
E.g. fibrin, collagen (component of bones and tendons) and keratin (found in hair, horn and
nails)

 Globular proteins – spherical shapes, which are important metabolic molecules, and are
soluble.
E.g. enzymes, antibodies and some hormones

45
What determines the 3D structure of a protein?

 Amino acid sequence of a protein determines its tertiary structure.

 In most proteins within the cell environment, folding is a speedy process in which some accessory
proteins, including enzyme are normally involved.

 When a protein loses its 3D shape, it is denatured.

Roles of proteins
 In membranes around the cell
 Fibrous protein collagen
 As carrier proteins (associated with bulk transport)/channel proteins (associated with facilitated
diffusion)
 Antibodies
 Enzyme
 Some as hormones

46
Enzyme

 Enzymes are globular proteins which act as catalysts.

They speed up the chemical reactions by lowering the activation energy, and remain unchanged at
the end of the reaction.

 They are effective in small amounts.

 They speed up the rate at which an equilibrium position is reached.

In a reversible reaction,
A+B⇌C+D
The reversible reaction reaches an equilibrium point where the rate of the forward reaction equals the
rate of the reverse reaction.
Most enzyme-catalysed reactions are reversible.

 Extracellular enzymes are exported from cells, and work externally. E.g. digestive enzymes
Intracellular enzymes work within the cells.
They are found inside the organelles, in the membrane of organelles, in the fluid medium around
the organelles and in the plasma membrane.

 Enzymes provide an alternate reaction pathway, which requires less energy.

Roles of enzymes in organisms

 Each reaction of metabolism can only occur in the presence of specific enzymes.
If the enzyme is absent, then the reaction it catalyses cannot occur.

Enzyme-substrate complex (lock and key hypothesis)

 Part of the enzyme molecules is a specifically shaped active site, into which a substrate fits to form
an enzyme-substrate complex.
As the enzyme and substrate forms a complex (E – S), this immediately breaks down to form the
products (Pr), plus the unchanged enzyme.
E + S ⇌ E – S ⇌ Pr + E

Process:
1. Substrate diffuses into the active site.
2. Substrate binds to the active site.
3. Bonds in the substrate are broken.
4. Products form and unbind from the active site, and diffuse out.

47
Enzymes lower the activation energy

Activation energy is the minimum amount of energy needed to raise a substrate molecule to its
transition state. Enzymes work by lowering the amount of energy required to activate the reacting
molecules. (Look up to a graph on internet)

Active site and enzyme specificity

Enzymes are highly specific in their action – they catalyse

Just one type of reaction of only a small group of highly similar ones.
This is because the active site as a precise shape and distinctive chemical properties.

Rate of enzyme-catalysed reactions (effect of different concentrations of substrate/enzyme

Effect of a substrate concentration can be investigated using catalase.

48
Limitations of enzymes

 Beyond the optimum temperature, the increased vibrations of the atoms in the protein molecule
break the bonds maintaining the tertiary structure.
The active site of the enzyme is irreversibly denatured.

 An increase in temperature increases chances of collision between enzyme and substrate

molecules (increasing the kinetic energy of molecules).
Thus the rate of reaction increases.

 pH change around the enzyme’s optimum pH alter the charge distribution in the active site,
reducing the compatibility of enzyme and substrate.
Tertiary structure bonds are again affected, and extreme changes will denature the enzyme.

 An increase in either substrate or enzyme concentration will increase the rate of reaction until the
other acts as a limiting factor.

49
Nucleic acids

Genetic code is an order of bases in the DNA of a chromosome that determines the sequence of amino
acids in a protein.

There are two types of nucleic acids;

1) Deoxyribonucleic acid (DNA)
2) Ribonucleic acid (RNA)

Structure of nucleotides

Nucleotides are repeating units of which the nucleic acids (polynucleotides) are built up.

A nucleotide consists of three substances combined together;

1) A nitrogenous base (cytosine, guanine, adenine, thymine or uracil)
2) A pentose sugar
3) Phosphoric acid

 A nucleic acid or a polynucleotide is a very long, thread-like macromolecules.

 Alternating sugar and phosphate molecules form the backbone of the polynucleotide, with a base
attached to each sugar molecule along the strand.

 Gene is a sequence of bases on a DNA molecule coding for a sequence of amino acids in a
polypeptide chain.

50
 Nucleotides link together by condensation reactions between sugar of one and
the phosphate group of another.

 Nucleotides become chemiccaly combined together, phosphate to pentose

sugar, by covalent bonds, with sequence of bases attached to the sugar
residues.

RNA & DNA

RNA

 RNA (ribonucleic acid) is made up of a single strand of nucleotides.

 RNA nucleotides contain ribose.

 Bases are adenine, guanine, cytosine, and uracil (no thymine).

 It is relatively short in length compared with DNA.

There are three types of RNA;

1) Messenger RNA (mRNA)
2) Transfer RNA (tRNA)
3) Ribosomal RNA (rRNA)

Role of RNA
 Use information from the nucleus in the construction of proteins
by the ribosome in the cytoplasm.

51
DNA

 DNA (deoxyribonucleic acid) consists of two polynucleotide strands, paired together, and held by
hydrogen bonds between the bases.

 DNA nucleotides contain deoxyribose.

 Bases are adenine, guanine, cytosine and thymine (no uracil).

 Two strands take the shape of a double helix.

 Bases of two strands fit together only if the sugar molecules they are attached to point in opposite
directions – said to be antiparallel.

The pairing of bases is between;

o Adenine & thymine,
o Cytosine & guanine.

This pairing is called complementary pairing.

 Complementary pairing is the key to the way information is held in the nucleic acids, and the form
in which it can be transferred to RNA (mRNA) to be used in the cytoplasm.

 In the chromosome, the helical structure of DNA is stabilised and supported by proteins.

52
DNA replication

 DNA must occur before a cell divides to ensure that daughter cells receive a copy of the genetic
code.

 Replication takes place in the interphase nucleus.

Process:
1. DNA double helix unwinds.
2. Hydrogen bonds between the base pairs break (to separate the two strands).
Helicase (an enzyme) is involved in these steps and also holds the strands apart during replication.
3. Free nucleotides line up alongside each strand.
4. Hydrogen bonds form between the complementary bases.
5. DNA polymerase links adjacent nucleotides (condensation reaction of sugar and phosphate group
of adjacent nucleotides) and form phosphodiester bonds.

 Two identical DNA double helices are formed by semi-conservative replication; one strand of each
new double helix comes from the original chromosome and one is a newly synthesised one.

53
Evidence for the DNA replication

DNA replication is a semi-conservative process, because when a new double-stranded DNA molecule is
formed:
o One strand will be from the original template molecule
o One strand will be newly synthesised

The theory that DNA replication was semi-conservative was confirmed by the Meselson-Stahl
experiment in 1958

Prior to this experiment, three hypotheses had been proposed for the method of replication of DNA:

1) Conservative Model – An entirely new molecule is synthesised from a DNA template (which
remains unaltered)

2) Semi-Conservative Model – Each new molecule consists of one newly synthesised strand and one
template strand

3) Dispersive Model – New molecules are made of segments of new and old DNA

Meselson and Stahl were able to experimentally test the validity of these three models using
radioactive isotopes of nitrogen.

 Nitrogen is a key component of DNA and can exist as a heavier 15N or a lighter 14N.

54
DNA molecules were prepared using the heavier 15N and then induced to replicate in the presence of
the lighter 14N.

 DNA samples were then separated via centrifugation to determine the composition of DNA in the
replicated molecules.

The results after two divisions supported the semi-conservative model of DNA replication.

 After one division, DNA molecules were found to contain a mix of 15N and 14N, disproving the
conservative model.

 After two divisions, some molecules of DNA were found to consist solely of 14N, disproving the
dispersive model.

55
Protein synthesis

Role of DNA
 To instruct the cell to make specific proteins

 Huge length of the DNA molecule in a single chromosome codes for a very large number of
proteins.

Within these extremely long molecule, the relatively short length of DNA (short section of a
chromosome) that codes for a sequence of amino acids in a polypeptide chains is a gene.

 There are only about 20 amino acids which are used in protein synthese.

The unique property of each protein lies in;

o Which amino acids are involved in its construction.
o Sequence in which amino acids are joined.

 DNA code is the form of sequence of the four bases, cytosine (C), guanine (G), adenine (A) and
thymine (T).
This sequence dictates the order in which specific amino acids are to be assemble or combined
together.

 The code lies in the sequence in one of the strands, the coding strand (reference strand).

 The other strand is complementary to the coding strand.

 The coding strand is always read in the same direction.

 ‘Code’ is a triplet code, meaning that each sequence of three of the four bases stands for one of the
20 amino acids, and is called a codon.

 With a four-letter alphabet (C, G, A, T) there are 64 possible triplet combinations.

 Genetic code has many more codons than there are amino acids.

 Some codons represent the punctuation of the code – for example, there are start and stop
triplets.

56
Stages in protein synthesis

1. Transcription
o Takes place in the nucleus.
o A complimentary copy of the gene is made using RNA.
o Coding strand is taken as template.
o Once the mRNA has formed, it leaves nucleus through nuclear pore and passes to ribosome,
where information can be read and is used.
o Enzyme involved is RNA polymerase.

2. Amino acid activation

o Occurs in the cytoplasm.
o Amino acids are activated for protein synthesis by combining with short lengths of transfer RNA
(tRNA).
o tRNA translates a three-base sequence into an amino acid sequence.
o Different tRNA are involved for each 20 amino acids.
o At one end of each tRNA molecule is a site where a particular amino acid can be joined.
At the other end, there is a sequence of three bases called anticodon.
o Anticodon is complimentary to the codon of mRNA that codes for a specific amino acid.
o Amino acid is attached to its tRNA by an enzyme.

57
3. Translation
o Occurs on the ribosome.
o Beginning of the sequence is marked with the start codon.
o Complimentary anticodons on the amino acid-tRNA slot into place and are temporary held in
position by hydrogen bonds.
o Amino acids, arranged in the order dictated by the mRNA codons, are joined with peptide bond
to form a polypeptide.
o Protein chain is assembled.
o Free-ed first tRNAs move back into the cytoplasm for re-use.
o A stop codon signals the last amino acid in the protein chain.

58
59
Functions of RNA

Step RNA Role

Carries a copy of the code from a single protein –
Transcription mRNA coding gene from the DNA of a chromosome in the
nucleus out into the cytoplasm

Translation mRNA Delivers a copy of the code from a single protein-

coding gene to a ribosome
tRNA Carries specific amino acids to the ribosome
rRNA Ribosome is the site of protein synthesis

Change in DNA

Gene mutation

 Mutation is a change in the amount of the chemical structure of a DNA of a chromosome.

 One occasion where mutations are more likely to occur than others, is when DNA molecule is
replicating.

 If this occurs in a sperm or ovum, which ultimately forms a zygote, every cell in the new organism
will carry the mutation.

 If the mutation occurs in non-coding DNA, there is no effect.

 In a gene, it will cause an error in the mRNA and an incorrect amino acid may be included in the
polypeptide chain causing a genetic disorder.
E.g. sickle cell anaemia

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There are two types of mutations.

1) Chromosome mutation
o Occur when an abrupt change in the number or the sequence of genes occurs.
E.g. additional sets of chromosomes maybe the result of an error during the nuclear divisions of
gamete formation

2) Gene mutation
o Change in the sequence of bases of a particular gene.
o Some chemicals which can cause mutations include forms of radiation, such as x-rays.
o Factors that increase the chances of mutations are called mutagens.
o E.g. in sickle cell anaemia, haemoglobin cannot transport oxygen and cells may block smaller
capillaries.

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Introducing genetics
Gene is a sequence of bases on a DNA molecule coding for a sequence of amino acids in a polypeptide
chain.

A particular gene always occurs on the same chromosome in the same position.
The position of the gene is called its locus.

Introducing chromosomes

There are four characteristic features about the chromosome.

1) Number of chromosomes per species is fixed.

E.g. Mouse – 140 per cell
Onion – 16
Humans – 46
Meadow buttercup – 14

2) Chromosomes occur in pairs.

o This is called the homologous pairs.
o One set of chromosomes come originally from one parent and a second set from the other.

3) Shape of a chromosome is characteristic.

o Chromosomes are long thin structure of a particular, fixed length.
o Somewhere along the chromosome occurs a narrow region, centromere.
o Position of centromere of any chromosome doesn’t change.

4) Chromosomes copy themselves.

o Between nuclear divisions, each chromosome makes a copy of itself.

Introducing variation

The variation we observe in living things may be due to genetics, or to an effect of the environmental
on the individual, or both.

 Genetic differences are controlled by genes – e.g. gender.

 Other variations are due to environment – e.g. deficiency of nutrient.

 Others may be due to both genetics and environment – e.g. body height and weight.

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There are two types of variations.

1) Continuous variations
o These may be genetically determined, or may be due to both environment and genetic factors.
E.g. height and weight
2) Discontinuous variation
o These are the ones in which the characteristics concerned is one or two or more discrete types
with no intermediate forms.
o These are genetically determined.
E.g. Human ABO blood grouping

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Inheriting genes in sexual reproduction

Term Definition
Genotype Genetic constituent of an organism

Characteristics displayed by the organism – the way in

Phenotype
which the genotype is expressed
Basic unit of inheritance by which inherited characteristics
Gene
are transferred from parents to offspring.
Alternative forms of a gene, occupy a specific locus on a
Alleles
chromosome

Allele that affects the phenotype of the phenotype of the

Dominant allele organism whether present in heterozygous or
homozygous condition

Allele that affects the phenotype of the organism only

Recessive allele
when then dominant allele is absent

A diploid organism that has inherited the same allele for

Homozygous
any particular gene from both parents
A diploid organism that has inherited different alleles from
Heterozygous
each parent

 In sexual reproduction, gametes are formed by a special reduction division of the nucleus.

Gametes are haploid – each has one set of chromosomes.

So gametes contain only one copy of each gene.

 After fertilisation, male and female gametes fuse to form a zygote.

Zygotes are diploid – with two sets of chromosomes (homologous pairs), one from each parents.
Thus there are two copies of each gene (allele) in the new individual.

 The alleles that an organism has present in every cell make up the genotype of that organism.

 A genotype in which the two alleles are the same is homozygous, and if alleles are different the
organism is heterozygous for that gene.

 Whole genotype may interact with environmental factors, the outcome is the phenotype.
Phenotype is the appearance of the organisms.

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Pattern of inheritance of a single pair of contrasting characteristics

Monohybrid cross for pea plant

To prevent self-pollination;
o Stamens were cut off while still immature.
o Pollen was introduced from a flower on a plant with the contrasting characteristics.

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Genetic diagram of the monohybrid cross

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Human inheritance investigated by pedigree chart

Example of a condition caused by a recessive allele is albinism.

Individuals have a block in the biochemical pathway by which the pigment melanin is formed.
Albinos have white hair, very light coloured skin and pink eye.

 Albinism shows a pattern of recessive monohybrid inheritance in humans.

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 Albino people must be homozygous for the recessive albino allele (pp).
People with normal skin pigmentation may be homozygous (PP) or carriers (Pp).

Inheritance of genetic disorders

Other examples of genetic diseases

Thalassaemia

 This is caused by recessive allele of a gene found on chromosome 11, and results from one of
several mutations that cause reduced or imperfect synthesis of haemoglobin.

 Sufferers produce normal haemoglobin during fatal development in the uterus, but after birth
thalassaemia develops.

 Pedigree chart of a family of thalassaemia carriers will have a similar patter to that shown for
albinism.

Cystic fibrosis

 This is caused due to a mutation of a single gene on chromosome 7, and it affect the epithelial cells
of the body (inheritance of two recessive alleles for cystic fibrosis).

Cystic fibrosis

 A number of different mutations can affect the genes coding for cystic fibrosis transmembrane
regulatory (CFTR) protein channels, which allow chloride ions to pass through the membrane.

 CFTR functions as an ion pump.

The pump transports chloride ions across membrane and water follows the ions, so epithelia are
kept smooth and moist.

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 The most common mutation involves a deletion of only three nucleotides, and results in the loss of
amino acid (phenylalanine) at one location.

 The mutated gene codes for no protein or for a faulty protein.

As a result, sufferers have dry epithelia, and there is a build-up of thick, sticky mucus.

Too viscous mucus affects:

1) Lungs
o Amount of water in the mucus produced must be regulated; if it’s too runny, it floods the
airway and if it’s too sticky, it can’t be cleared by the cilia.
This is controlled by the transport of sodium and chloride ions across the epithelial cells.
o Water follows the ions because of osmosis.
o Because of low level of oxygen in the mucus, anaerobic bacterial thrive.
White blood cells invade the mucus, then die and release DNA making it even more viscous.
o Mucus blocks bronchioles, reducing the number of ventilated alveoli.
This reduces the efficiency of gas exchange.

2) Digestive system
o Viscous mucus blocks the pancreatic duct.
o Enzymes are not released into the small intestine and food is therefore not digested effectively.
Undigested food cannot be absorbed and energy is lost in the faeces.

3) Reproductive system
o In females, a dense mucus plug blocks the cervix.
o In males, dese mucus in the sperm ducts blocks these tubes, reducing the sperm count in the
semen when ejaculated.
o Results in infertility.

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Introducing gene therapy

Gene therapy is the insertion of a normal allele into a target cell to replace a faulty allele that causes
inherited disorders, such as cystic fibrosis.

There are two types of gene therapy.

1) Germ line therapy

o Alternating germ cells (gametes).
o This method is banned due to risks associated with it.
E.g. targeting the wrong cell, infection by the virus, possibility of causing a tumor, etc.

2) Somatic gene therapy

o Alternating somatic cells (body cells).

Process:
1. Isolate functioning CFTR genes.
2. Insert the CFTR gene into a harmless virus (virus is altered so that it cannot reproduce).
3. Altered virus is sprayed as an aerosol of fine droplets into the patients' noses.
4. Cells become genetically altered.

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71
Genetic screening

Roles of genetic screening

 Identifying carriers – heterozygotes with normal phenotypes.
 Prenatal testing

 Both techniques carry a risk of miscarriage.

 Pre-implantation genetic diagnosis is used to test an embryo created by IVF.

Methods of prenatal testing

Chorionic villus sampling

Process:
1. Sample of chorionic villus is taken from the placenta, between 10 and 14 weeks of pregnancy,
using a syringe, via the cervix.
2. Tissue extracted can be tested immediately (DNA is analysed).

Amniocentesis

Process:
1. Small amount of amniotic fluid is collected, between 14 and 20 weeks of pregnancy, via a needle
through the walls of abdomen.
2. Fatal cells are cultured for 2 – 3 weeks.

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Ethics of genetic screening

Pros
 Can opt for termination
 Can get counselling
 Can buy special medical equipment/care in preparation for birth
 Can opt not to have children
 Utilitarian argument

Cons
 Abortion is morally wrong
 Tests can be inaccurate
 Small chance of miscarriage
 Unnatural procedure
 Embryos cannot give informed consent

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