Cell theory

2.1.1 Outline the cell theory.    

The cell theory states that: 
 

 All living organisms are composed of cells. Multicellular organisms (example: humans) are
composed of many cells while unicellular organisms (example: bacteria) are composed of only one
cell. Cells are the basic unit of structure in all organisms. 

 Cells are the smallest unit of life. They are the smallest structures capable of surviving on their
own.

 Cells come from pre-exsisting cells and cannot be created from non-living material. For example,
new cells arise from cell division and a zygote (the very first cell formed when an organism is
produced) arises from the fusion of an egg cell and a sperm cell. 

2.1.2 Discuss the evidence for the cell theory. 

When scientists started to look at the structures of organisms under the microscope they discovered
that all living organisms where made up of these small units which they proceeded to call cells. When
these cells were taken from tissues they were able to survive for some period of time. Nothing smaller
than the cell was able to live independently and so it was concluded that the cell was the smallest unit
of life. For some time, scientists thought that cells must arise from non-living material but it was
eventually proven that this was not the case, instead they had to arise from pre-exsisting cells. An
experiment to prove this can be done as follows: 
 

 Take two containers and put food in both of these

 Sterilize both of the containers so that all living organisms are killed

 Leave one of the containers open and seal the other closed 

What will happen is that in the open container mold will start to grow but in the container that was
sealed no mold will be present. The reason for this is because in the open container, cells are able to
enter the container from the external environment and start to divide and grow. However, due to the
seal on the other container no cells will be able to enter and so no mold will develop, proving that cells
cannot arise from non-living material. 

2.1.3 State that unicellular organisms carry out all the functions of life. 

2.1.4 Compare the relative sizes of molecules, cell membrane thickness,

viruses, bacteria, organelles and cells, using the appropriate SI unit. 
Remember:
1 millimeter (mm) = 10-3 meters
1 micrometer (μm) = 10-3 millimeters 
1 nanometer (nm) = 10-3 micrometers

A molecule = 1 nm
 Thickness of cell membrane = 10 nm
Viruses = 100 nm
Bacteria = 1μm
Organelles = up to 10 μm
Eukaryotic cells = up to 100 μm

2.1.5 Calculate the linear magnification of drawings and the actual size of

specimens in images of known magnification. 

 Take a measurement of the drawing (width or length)

 Take this same measurement of the specimen  

 Remember to convert units if needed to

 Place your values into the equation

 Magnification = length of drawing / length of actual specimen

You can also calculate the length of the specimen if this is unknown: length of the drawing /
magnification. 

Conversion of units:
1 centimeter = 10-2 meters
1 millimeter = 10-3 meters
1 micrometer = 10-6 meters
1 nanometer = 10-9 meters

2.1.6 Explain the importance of the surface area to volume ratio as a factor

limiting cell size. 
Many reactions occur within the cell. Substances need to be taken into the cell to fuel these reactions
and the wast products of the reactions need to be removed. When the cell increases in size so does its
chemical activity. This means that more substances need to be taken in and more need to be
removed. The surface area of the cell is vital for this. Surface area affects the rate at which particles
can enter and exit the cell (The amount of substances that it takes up from the environment and
excretes into the environment), whereas the volume affects the rate at which material are made or
used within the cell, hence the chemical activity per unit of time. 

As the volume of the cell increases so does the surface area however not to the same extent. When
the cell gets bigger its surface area to volume ratio gets smaller. To illustrate this we can use three
different cubes. The first cube has a side of 1 cm, the second 3 cm and the third 4 cm. If we calculate
the surface area to volume ratio we get:

Cube 1
Surface area: 6 sides x 12 = 6 cm2
Volume: 13 = 1 cm3
Ratio = 6:1

Cube 2
Surface area: 6 sides x 32 = 54 cm2
Volume: 33 = 27 cm3
Ratio = 2:1

Cube 3
Surface area: 6 sides x 42 = 96 cm2
Volume : 43 = 64 cm3
Ratio = 1.5:1

As we can see the cube with the largest surface area and volume has the smallest surface area to
volume ratio. If the surface area to volume ratio gets too small then substances won’t be able to enter
the cell fast enough to fuel the reactions and wast products will start to accumulate within the cell as
they will be produced faster than they can be excreted. In addition, cells will not be able to lose heat
fast enough and so may overheat. Therefor the surface area to volume ratio is very important for a
cell. 

2.1.7 State that multicellular organisms show emergent properties. 

Multicellular organisms show emergent properties. For example: cells form tissues, tissues form
organs, organs form organ systems and organ systems form multicellular organisms. The idea is that
the whole is greater than the composition of its parts. For example your lungs are made of many cells.
However, the cells by themselves aren’t much use. It is the many cells working as a unit that allow
the lungs to perform their function.

2.1.8 Explain that cells in multicellular organisms differentiate to carry out

specialized functions by expressing some of their genes but not others. 
Every cell in a multicellular organisms contains all the genes of that organism. However, the genes
that are activated vary from cell to cell. The reason we have different types of cells in our body (the
cells in your eyes are not the same as the ones that make up your hair) is because different genes are
activated in different cells. For example, the gene that produces keratin will be active in hair and nail
cells. Keratin is the protein which makes up hair and nails. Genes encode for proteins and the proteins
affect the cell’s structure and function so that the cell can specialize. This means cells develop in
different ways. This is called differentiation. Differentiation depends on gene expression which is
regulated mostly during transcription. It is an advantage for multicellular organisms as cells can
differentiate to be more efficient unlike unicellular organisms who have to carry out all of the functions
within that one cell.

2.1.9 State that stem cells retain the capacity to divide and have the ability to
differentiate along different pathways. 
Adults have stems cells in the tissues in their bodies that need to be frequently replaced such as the
skin. Stem cells have the ability to produce a wide range of cells which means that they are
pluripotent. They retain their ability to divide and produce many different cells by cell division and the
process of differentiation. For example, one type of stem cells in the bone marrow produce a variety of
red and white blood cells.

2.1.10 Outline one therapeutic use of stem cells. 

Bone marrow transplants are one of the many therapeutic uses of stem cells. Stem cells found in the
bone marrow give rise to the red blood cells, white blood cells and platelets in the body. These stem
cells can be used in bone marrow transplants to treat people who have certain types of cancer. 

When a patient has cancer and is given high doses of chemotherapy, the chemotherapy kills the
cancer cells but also the normal cells in the bone marrow. This means that the patient cannot produce
blood cells. So before the patient is treated with chemotherapy, he or she can undergo a bone marrow
harvest in which stem cells are removed from the bone marrow by using a needle which is inserted
into the pelvis (hip bone). Alternatively, if stem cells cannot be used from the patient then they can be
harvested from a matching donor. After the chemotherapy treatment the patient will have a bone
marrow transplant in which the stem cells are transplanted back into the patient through a drip,
usually via a vein in the chest or the arm. These transplanted stem cells will then find their way back
to the bone marrow and start to produce healthy blood cells in the patient. Therefore the therapeutic
use of stem cells in bone marrow transplants is very important as it allows some patients with cancer
to undergo high chemotherapy treatment. Without this therapeutic use of stem cells, patients would
only be able to take low doses of chemotherapy which could lower their chances of curing the disease.

2.2.1 Draw and label a diagram of the ultrastructure of Escherichia

coli (E. coli) as an example of a prokaryote. 

2.2.2 Annotate the diagram from 2.2.1 with the functions of each named
structure. 
Cell wall: Protects the cell from the outside environment and maintains the shape of the cell. It also
prevents the cell from bursting if internal pressure rises. 

Plasma membrane: Semi-permeable membrane that controls the substances moving into and out of
the cell. It contains integral and peripheral proteins. Substances pass through by either active or
passive transport.

Cytoplasm: Contains many enzymes used to catalyze chemical reactions of metabolism and it also
contains the DNA in a region called the nucleoid. Ribosomes are also found in the cytoplasm. 

Pili: Help bacteria adhere to each other for the exchange of genetic material. 

Flagella (singular flagellum): Made of a protein called flagellin. Helps bacteria move around by the
use of a motor protein that spins the flagellum like a propeller.

Ribosomes: They are the site of protein synthesis. Contributes to protein synthesis by translating
messenger RNA.

Nucleoid: Region containing naked DNA which stores the hereditary material (genetic information)
that controls the cell and will be passed on to daughter cells.

2.2.3 Identify structures from 2.2.1 in electron micrographs of E. coli. 

2.2.4 State that prokaryotic cells divide by binary fission. 

Prokaryotic cells divide by binary fission. Binary fission is a method of asexual reproduction involving
the splitting of the parent organism into two separate organisms.
2.3.1 Draw and label a diagram of the ultrastructure of a liver cell as an
example of an animal cell. 

Figure 2.3.1 - Annotated drawing of an animal cell

2.3.2 Annotate the diagram from 2.3.1 with the functions of each named
structure. 
Ribosomes: Found either floating free in the cytoplasm or attached to the surface of the rough
endoplasmic reticulum and in mitochondria and chloroplast. Ribosomes are the site of protein
synthesis as they translate messenger RNA to produce proteins.

Rough endoplasmic reticulum: Can modify proteins to alter their function and/or destination.
Synthesizes proteins to be excreted from the cell.

Lysosome: Contains many digestive enzymes to hydrolyze macromolecules such as proteins and
lipids into their monomers.

Golgi apparatus: Receives proteins from the rough endoplasmic reticulum and may further modify
them. It also packages proteins before the protein is sent to it’s final destination which may be
intracellular or extracellular.
 Mitochondrion: Is responsible for aerobic respiration. Converts chemical energy into ATP using
oxygen.

Nucleus: Contains the chromosomes and therefore the hereditary material. It is responsible for
controlling the cell.

2.3.3 Identify structures from 2.3.1 in electron micrographs of liver cells. 

Figure 2.3.2 - Electron micrograph of an animal cell

2.3.4 Compare prokaryotic and eukaryotic cells. 

1. Prokaryotic cells have naked DNA which is found in the cytoplasm in a region named the nucleoid.
On the other hand, eukaryotes have chromosomes that are made up of DNA and protein. These
chromosomes are found in the nucleus enclosed in a nuclear envelope.
2. Prokaryotes do not have any mitochondria whereas eukaryotes do. 
3. Prokaryotes have small ribosomes (70S) compared to eukaryotes which have large ribosomes
(80S).
4. In prokaryotes there are either no or very few organelles bounded by a single membrane in
comparison to eukaryotes which have many of them including the Golgi apparatus and the
endoplasmic reticulum.

2.3.5 State three differences between plant and animal cells. 

  Animal cells only have a plasma membrane and no cell wall. Whereas plant cells have a plasma membrane and a
cell wall.
 Animal cells do not have chloroplasts whereas plant cells do for the process of photosynthesis.
 Animal cells store glycogen as their carbohydrate resource whereas plants store starch.
 Animal cells do not usually contain any vacuoles and if present they are small or temporary. On the
other hand plants have a large vacuole that is always present.
 Animal cells can change shape due to the lack of a cell wall and are usually rounded whereas plant
cells have a fixed shape kept by the presence of the cell wall.

2.3.6 Outline two roles of extracellular components. 

The plant cell wall gives the cell a lot of strength and prevents it from bursting under high pressure as
it is made up of cellulose arranged in groups called microfibrils. It gives the cell its shape, prevents
excessive water up take by osmosis and is the reason why the whole plant can hold itself up against
gravity.

The animal cell contains glycoproteins in their extracellular matrix which are involved in the support,
movement and adhesion of the cell.

2.4.1 Draw and label a diagram to show the structure of membranes. 

Figure 2.4.1 - Annotated drawing of a cell membrane

2.4.2 Explain how the hydrophobic and hydrophilic properties of phospholipids

help to maintain the structure of cell membranes. 
Phospholipid molecules make up the cell membrane and are hydrophilic (attracted to water) as well as
hydrophobic (not attracted to water but are attracted to other hydrophobic tails). They have a
hydrophilic phosphate head and two hydrophobic hydrocarbon tails. Cell membranes are made up of a
double layer of these phospholipid molecules. This is because in water the hydrophilic heads will face
the water while the hydrophobic tails will be in the center because they face away from the water. The
phospholipid bilayer makes the membrane very stable but also allows flexibility. The phospholipid in
the membrane are in a fluid state which allows the cell to change it’s shape easily.

2.4.3 List the functions of membrane proteins.

Membrane proteins can act as hormone binding sites, electron carriers, pumps for active transport,
channels for passive transport and also enzymes. In addition they can be used for cell to cell
communication as well as cell adhesion.
2.4.4 Define diffusion and osmosis.    
Diffusion is the passive movement of particles from a region of high concentration to a region of low
concentration.

Osmosis is the passive movement of water molecules, across a partially permeable membrane, from a
region of lower solute concentration to a region of higher solute concentration.

2.4.5 Explain passive transport across membranes by simple diffusion and

facilitated diffusion. 
Membranes are semi-permeable which means that they allow certain molecules through but not
others. The molecules can move in and out through passive transport which is a method that does not
require any input of outside energy. It can either be done by simple diffusion or facilitated diffusion.
Molecules will go from a region of high concentration to a region of low concentration as they move
randomly and eventually become evenly distributed within the system if they are permeable to the
membrane. Simple diffusion involves the diffusion of molecules through the phospholipid bilayer while
facilitated diffusion involves the use of channel proteins embedded in the membrane. The cell
membrane is hydrophobic inside so hydrophobic (lipid soluble) molecules will pass through by simple
diffusion whereas hydrophilic molecules and charged particles will use facilitated diffusion. Water
moves through by osmosis which is also by passive transport. Osmosis involves the movement of
water molecules from a region of low solute concentration, to a region of high solute concentration. So
if the solute concentration is higher inside the cell than outside the cell, water will move in and vice
versa.

2.4.6 Explain the role of protein pumps and ATP in active transport across
membranes. 
Active transport involves the movement of substances through the membrane using energy from ATP.
The advantage of active transport is that substances can be moved against the concentration
gradient, meaning from a region of low concentration to a region of high concentration. This is
possible because the cell membrane has protein pumps embedded it which are used in active
transport to move substances across by using ATP. Each protein pump only transports certain
substances so the cell can control what comes in and what goes out.

2.4.7 Explain how vesicles are used to transport materials within a cell

between the rough endoplasmic reticulum, Golgi apparatus and plasma
membrane. 
After proteins have been synthesized by ribosomes they are transported to the rough endoplasmic
reticulum where they can be modified. Vesicles carrying the protein then bud off the rough
endoplasmic reticulum and are transported to the Golgi apparatus to be further modified. After this
the vesicles carrying the protein bud off the Golgi apparatus and carry the protein to the plasma
membrane. Here the vesicles fuse with the membrane expelling their content (the modified proteins)
outside the cell. The membrane then goes back to its original state. This is a process called
exocytosis. Endocytosis is a similar process which involves the pulling of the plasma membrane
inwards so that the pinching off of a vesicle from the plasma membrane occurs and then this vesicle
can carry its content anywhere in the cell.

2.4.8 Describe how the fluidity of the membrane allows it to change shape,

break and re-form during endocytosis and exocytosis. 
The phospholipids in the cell membrane are not solid but are in a fluid state allowing the membrane to
change its shape and also vesicles to fuse with it. This means substances can enter the cell via
endocytosis and exit the cell via exocytosis. The membrane then returns to its original state. In
exocytosis the vesicles fuse with the membrane expelling their content outside the cell. The
membrane then goes back to its original state. Endocytosis is a similar process which involves the
pulling of the plasma membrane inwards so that a vesicle is pinched off it and then this vesicle can
carry its content anywhere in the cell.

Cell division
2.5.1 Outline the stages in the cell cycle, including interphase (G1, S, G2),
mitosis and cytokinesis. 
The first stage of cell division is interphase which is divided into 3 phases; G1, S and G2. The cell cycle
starts with G1 (Gap phase 1) during which the cell grows larger. This is followed by phase S
(synthesis) during which the genome is replicated. Finally, G2 (gap phase 2) is the second growth
phase which separates the newly replicated genome and marks the end of interphase. 
The fourth stage is mitosis which is divided into prophase, metaphase, anaphase and telophase.
During mitosis the spindle fibers attach to the chromosomes and pull sister chromatids apart. This
stage separates the two daughter genomes. Finally, cytokinesis is the last stage during which the
cytoplasm divides to create two daughter cells. In animal cells the cell is pinched in two while plant
cells form a plate between the dividing cells.

2.5.2 State that tumours (cancers) are the result of uncontrolled cell division
and that these can occur in any organ or tissue. 
Tumors are formed when cell division goes wrong and is no longer controlled. This can happen in any
organ or tissue.

2.5.3 State that interphase is an active period in the life of a cell when many
metabolic reactions occur, including protein synthesis, DNA replication and an
increase in the number of mitochondria and/or chloroplasts. 
Interphase is an active period in the life of a cell during which many metabolic reactions occur such as
protein synthesis, DNA replication and an increase in the number of mitochondria and/or chloroplast.

2.5.4 Describe the events that occur in the four phases of mitosis (prophase,
metaphase, anaphase and telophase). 
During prophase the spindle microtubules grow and extend from each pole to the equator. Also
chromosomes super coil and become short and bulky and the nuclear envelope breaks down.

During metaphase the chromatids move to the equator and the spindle microtubules from each pole
attach to each centromere on opposite sides.

During anaphase the spindle microtubules pull the sister chromatids apart splitting the centromeres.
This splits the sister chromatids into chromosomes. Each identical chromosome is pulled to opposite
poles.

During telophase the spindle microtubules break down and the chromosomes uncoil and so are no
longer individually visible. Also the nuclear membrane reforms. The cell then divides by cytokinesis to
form two daughter cells with identical genetic nuclei.
2.5.5 Explain how mitosis produces two genetically identical nuclei. 
Mitosis is divided into four stages; prophase, metaphase, anaphase and telophase. During prophase,
the chromosomes become visible under a light microscope as they super coil and therefore they get
shorter and more bulky. The nuclear envelope disintegrates and the spindle microtubules grow and
extend from each pole to the equator. At metaphase the chromatids move to the equator. The sister
chromatids are two DNA molecules formed by DNA replication and are therefore identical. These sister
chromatids are then separated in anaphase as the spindle microtubules attaches to centromere and
pulls the sister chromatids to opposite poles. As the sister chromatids separate they are called
chromosomes. This means that each pole has the same chromosomes (same genetic material). Finally
the microtubules break down, the chromosomes uncoil and the nuclear membrane reforms. The cell
then divides into two daughter cells with genetically identical nuclei.

2.5.6 State that growth, embryonic development, tissue repair and asexual

reproduction involve mitosis. 
Growth, embryonic development, tissue repair and asexual reproduction involve mitosis.

Chemical elements and water

3.1.1 State that the most frequently occurring chemical elements in living
things are carbon, hydrogen, oxygen and nitrogen.
Carbon, hydrogen, oxygen and nitrogen are the most frequently occurring chemical elements in living
things.

3.1.2 State that a variety of other elements are needed by living organisms,
including sulfur, calcium, phosphorus, iron and sodium.
A variety of other elements are needed by living organisms, including sulfur, calcium, phosphorus,
iron and sodium.

3.1.3 State one role for each of the elements mentioned in 3.1.2.
Sulfur: Needed for the synthesis of two amino acids.

Calcium: Acts as a messenger by binding to calmodulin and a few other proteins which regulate
transcription and other processes in the cell.

Phosphorus: Is part of DNA molecules and is also part of the phosphate groups in ATP.

Iron: Is needed for the synthesis of cytochromes which are proteins used during electron transport
for aerobic cell respiration.

Sodium: When it enters the cytoplasm, it raises the solute concentration which causes water to enter
by osmosis.

3.1.4 Draw and label a diagram showing the structure of water molecules to
show their polarity and hydrogen bond formation.

3.1.5 Outline the thermal, cohesive and solvent properties of water.

Thermal properties of water include heat capacity, boiling and freezing points and the cooling effect of
evaporation.

Water has a large heat capacity which means that a considerable amount of energy is needed to
increase it’s temperature. This is due to the strength of the hydrogen bonds which are not easily
broken. This is why the temperature of water tends to remain relatively stable. It is beneficial for
aquatic animals as they use water as a habitat.

Water has a high boiling and freezing point. It boils at 100 C because the strong hydrogen bonds. All
these hydrogen bonds between the water molecules need to break for the liquid to change to gas.
Water becomes less dense as it gets closer to the freezing point and so ice always forms on the
surface first. The high boiling point of water is vital for life on earth as if water boiled at a lower
temperature the water in living organisms would start to boil and therefore these organisms would not
survive.
The fact that water becomes less dense as it freezes is beneficial to organisms as ice will always form
at the surface of lakes or seas and by doing so it insulates the water underneath, maintaining a
possible habitat for organisms to live in.

Water can evaporate at temperatures below the boiling point. Hydrogen bonds need to break for this
to occur.

Cohesion is the effect of hydrogen bonds holding the water molecules together. Water moves up
plants because of cohesion. Long columns of water can be sucked up from roots to leaves without the
columns breaking. The hydrogen bonds keep the water molecules sticking to each other.

The solvent properties of water mean that many different substances can dissolve in it because of its
polarity.

3.1.6 Explain the relationship between the properties of water and its uses in
living organisms as a coolant, medium for metabolic reactions and transport
medium.
Water can evaporate at temperatures below the boiling point. Hydrogen bonds need to break for this
to occur. The evaporation of water cools body surfaces (sweat) and plant leaves (transpiration) by
using the energy from liquid water to break the hydrogen bonds. The solvent properties of water
mean that many different substances can dissolve in it because of its polarity. This allows substances
to be carried in the blood and sap of plants as they dissolve in water. It also makes water a good
medium for metabolic reactions.

Carbohydrates, lipids and proteins

3.2.1 Distinguish between organic and inorganic compounds.
Organic compounds are compounds that are found in living organisms and contain carbon. Inorganic
compounds are the ones that don’t contain carbon. Although, there are a few compounds found in
living organisms which also contain carbon but are considered as inorganic compounds. These include
carbon dioxide, carbonates and hydrogen carbonates. 

3.2.2 Identify amino acids, glucose, ribose and fatty acids from diagrams
showing their structure.

3.2.3 List three examples each of monosaccharides, disaccharides and

polysaccharides.
 Glucose, galactose and fructose are all monosaccharides.
 Maltose, lactose and sucrose are all disaccharides.
 Starch, glycogen and cellulose are all polysaccharides. 

3.2.4 State one function of glucose, lactose and glycogen in animals, and of
fructose, sucrose and cellulose in plants.
In animals, glucose is used as an energy source for the body and lactose is the sugar found in milk
which provides energy to new borns until they are weaned. Finally, glycogen is used as an energy
source (short term only) and is stored in muscles and the liver. 

In plants, fructose is what makes fruits taste sweet which attracts animals and these then eat the
fruits and disperse the seeds found in the fruits. Sucrose is used as an energy source for the plant
whereas cellulose fibers is what makes the plant cell wall strong. 

3.2.5 Outline the role of condensation and hydrolysis in the relationships

between monosaccharides, disaccharides and polysaccharides; between fatty
acids, glycerol and triglycerides; and between amino acids and polypeptides.

3.2.6 State three functions of lipids.

 Lipids can be used for energy storage in the form of fat in humans and oil in plants.
 Lipids can be used as heat insulation as fat under the skin reduces heat loss. 
 Lipids allow buoyancy as they are less dense than water and so animals can float in water. 

3.2.7 Compare the use of carbohydrates and lipids in energy storage.

Carbohydrates and lipids can both be used as energy storage however carbohydrates are usually used
for short term storage whereas lipids are used for long term storage. Carbohydrates are soluble in
water unlike lipids. This makes carbohydrates easy to transport around the body (from and to the
store). Also, carbohydrates are a lot easier and more rapidly digested so their energy is useful if the
body requires energy fast. As for lipids, they are insoluble which makes them more difficult to
transport however because they are insoluble, lipids do not have an effect on osmosis which prevents
problems within the cells in the body. They also contain more energy per gram than carbohydrates
which makes lipids a lighter store compared to a store of carbohydrates equivalent in energy. 

DNA structure
3.3.1 Outline DNA nucleotide structure in terms of sugar (deoxyribose), base
and phosphate.
A nucleotide is made of the sugar deoxyribose, a base (which can be either adenine, guanine, cytosine
or thymine) and a phosphate group. Below is a representation of a nucleotide. 

3.3.2 State the names of the four bases in DNA.

Adenine, Guanine, Cytosine and Thymine.
3.3.3 Outline how DNA nucleotides are linked together by covalent bonds into
a single strand.
Below is a diagram showing how nucleotides are linked to one another to form a strand. A covalent
bond forms between the sugar of one nucleotide and the phosphate group of another nucleotide.

3.3.4 Explain how a DNA double helix is formed using complementary base
pairing and hydrogen bonds.
DNA is made up of two nucleotide strands. The nucleotides are connected together by covalent bonds
within each strand. The sugar of one nucleotide forms a covalent bond with the phosphate group of
another. The two strands themselves are connected by hydrogen bonds. The hydrogen bonds are
found between the bases of the two strands of nucleotides. Adenine forms hydrogen bonds with
thymine whereas guanine forms hydrogen bonds with cytosine. This is called complementary base
pairing. Below is a digram showing the molecular structure and bonds within DNA. 

3.3.5 Draw and label a simple diagram of the molecular structure of DNA.

3.4.1 Explain DNA replication in terms of unwinding the double helix and separation
of the strands by helicase, followed by formation of the new complementary strands
by DNA polymerase.
DNA replication is semi-conservative as both of the DNA molecules produced are formed from an old
strand and a new one. The first stage of DNA replication involves the unwinding of the double strand
of DNA (DNA double helix) and separating them by breaking the hydrogen bonds between the bases.
This is done by the enzyme helicase. Each separated strand now is a template for the new strands.
There are many free nucleotides around the replication fork which then bond to the template strands.
The free nucleotides form hydrogen bonds with their complimentary base pairs on the template
strand. Adenine will pair up with thymine and guanine will pair up with cytosine. DNA polymerase is
the enzyme responsible for this. The new DNA strands then rewind to form a double helix. The
replication process has produced a new DNA molecule which is identical to the initial one.

3.4.2 Explain the significance of complementary base pairing in the conservation of

the base sequence of DNA.
Complementary base pairing is very important in the conservation of the base sequence of DNA. This
is because adenine always pairs up with thymine and guanine always pairs up with cytosine. As DNA
replication is semi-conservative (one old strand an d one new strand make up the new DNA
molecules), this complementary base pairing allows the two DNA molecules to be identical to each
other as they have the same base sequence. The new strands formed are complementary to their
template strands but also identical to the other template. Therefore, complementary base pairing has
a big role in the conservation of the base sequence of DNA.

3.4.3 State that DNA replication is semi- conservative.

DNA replication is semi-conservative.

3.5.1 Compare the structure of RNA and DNA.

DNA and RNA both consist of nucleotides which contain a sugar, a base and a phosphate group.
However there are a few differences. Firstly, DNA is composed of a double strand forming a helix
whereas RNA is only composed of one strand. Also the sugar in DNA is deoxyribose whereas in RNA it
is ribose. Finally, both DNA and RNA have the bases adenine, guanine and cytosine. However DNA
also contains thymine which is replaced by uracil in RNA.

3.5.2 Outline DNA transcription in terms of the formation of an RNA strand

complementary to the DNA strand by RNA polymerase.
DNA transcription is the formation of an RNA strand which is complementary to the DNA strand. The
first stage of transcription is the uncoiling of the DNA double helix. Then, the free RNA nucleotides
start to form an RNA strand by using one of the DNA strands as a template. This is done through
complementary base pairing, however in the RNA chain, the base thymine is replaced by uracil. RNA
polymerase is the enzyme involved in the formation of the RNA strand and the uncoiling of the double
helix. The RNA strand then elongates and then separates from the DNA template. The DNA strands
then reform a double helix. The strand of RNA formed is called messenger RNA.

3.5.3 Describe the genetic code in terms of codons composed of triplets of bases.
A triplet of bases (3 bases) forms a codon. Each codon codes for a particular amino acid. Amino acids
in turn link to form proteins. Therefore DNA and RNA regulate protein synthesis. The genetic code is
the codons within DNA and RNA, composed of triplets of bases which eventually lead to protein
synthesis.

3.5.4 Explain the process of translation, leading to polypeptide formation.

Translation is the process through which proteins are synthesized. It uses ribosomes, messenger RNA
which is composed of codons and transfer RNA which has a triplet of bases called the anticodon. The
first stage of translation is the binding of messenger RNA to the small subunit of the ribosome. The
transfer RNA’s have a specific amino acid attached to them which corresponds to their anticodons. A
transfer RNA molecule will bind to the ribosome however it’s anticodon must match the codon on the
messenger RNA. This is done through complementary base pairing. These two form a hydrogen bond
together. Another transfer RNA molecule then bonds. Two transfer RNA molecules can bind at once.
Then the two amino acids on the two transfer RNA molecules form a peptide bond. The first transfer
RNA then detaches from the ribosome and the second one takes it’s place.The ribosome moves along
the messenger RNA to the next codon so that another transfer RNA can bind. Again, a peptide bond is
formed between the amino acids and this process continues. This forms a polypeptide chain and is the
basis of protein synthesis.

3.5.5 Discuss the relationship between one gene and one polypeptide.
A polypeptide is formed by amino acids liking together through peptide bonds. There are 20 different
amino acids so a wide range of polypeptides are possible. Genes store the information required for
making polypeptides. The information is stored in a coded form by the use of triplets of bases which
form codons. The sequence of bases in a gene codes for the sequence of amino acids in a polypeptide.
The information in the genes is decoded during transcription and translation leading to protein
synthesis.

Enzymes
3.6.1 Define enzyme and active site.
Enzymes: Globular proteins which act as catalysts of chemical reactions. 
Active site: Region on the surface of an enzyme to which substrates bind and which catalyses a
chemical reaction involving the substrates.

3.6.2 Explain enzyme?substrate specificity.

The active site of an enzyme is very specific to its substrates as it has a very precise shape. This
results in enzymes being able to catalyze only certain reactions as only a small number of substrates
fit in the active site. This is called enzyme-substrate specificity. For a substrate to bind to the active
site of an enzyme it must fit in the active site and be chemically attracted to it. This makes the
enzyme very specific to it’s substrate. The enzyme-substrate complex can be compared to a lock and
key, where the enzyme is the lock and the substrate is the key.

3.6.3 Explain the effects of temperature, pH and substrate concentration on enzyme

activity.
Enzyme activity increases with an increase in temperature and usually doubles with every 10 degrees
rise. This is due to the molecules moving faster and colliding more often together. However at a
certain point the temperature gets to high and the enzymes denature and stop functioning. This is due
to the heat causing vibrations within the enzyme destroying its structure by breaking the bonds in the
enzyme.

Enzymes usually have an optimum pH at which they work most efficiently. As the pH diverges from
the optimum, enzyme activity decreases. Both acid and alkali environments can denature enzymes.

Enzyme activity increases with an increase in substrate concentration as there are more random
collisions between the substrate and the active site. However, at some point, all the active sites are
taken up and so increasing the substrate concentration will have no more effect on enzyme activity.
As long as there are active sites available, an increase in substrate concentration will lead to an
increase in enzyme activity.

3.6.4 Define denaturation.

Denaturation is changing the structure of an enzyme (or other protein) so it can no longer carry out
its function.

3.6.5 Explain the use of lactase in the production of lactose-free milk.

Lactose is the sugar found in milk. It can be broken down by the enzyme lactase into glucose and
galactose. However some people lack this enzyme and so cannot break down lactose leading to
lactose intolerance. Lactose intolerant people need to drink milk that has been lactose reduced.
Lactose-free milk can be made in two ways. The first involves adding the enzyme lactase to the milk
so that the milk contains the enzyme. The second way involves immobilizing the enzyme on a surface
or in beads of a porous material. The milk is then allowed to flow past the beads or surface with the
immobilized lactase. This method avoids having lactase in the milk.

Cell respiration
3.7.1 Define cell respiration.
Cell respiration is the controlled release of energy from organic compounds in cells to form ATP.

3.7.2 State that, in cell respiration, glucose in the cytoplasm is broken down by
glycolysis into pyruvate, with a small yield of ATP.
In cell respiration, glucose in the cytoplasm is broken down by glycolysis into pyruvate with a small
yield of ATP.

3.7.3 Explain that, during anaerobic cell respiration, pyruvate can be converted in the
cytoplasm into lactate, or ethanol and carbon dioxide, with no further yield of ATP.
In anaerobic cell respiration the pyruvate stays in the cytoplasm and in humans is converted into
lactate which is the removed from the cell. In yeast the pyruvate is converted into carbon dioxide and
ethanol. In either case, no ATP is produced.

3.7.4 Explain that, during aerobic cell respiration, pyruvate can be broken down in the
mitochondrion into carbon dioxide and water with a large yield of ATP.
If oxygen is available, the pyruvate is taken up into the mitochondria and is broken down into carbon
dioxide and water. A large amount of ATP is released during this process.

Photosynthesis
3.8.1 State that photosynthesis involves the conversion of light energy into chemical
energy.
Photosynthesis involves the conversion of light energy into chemical energy.

3.8.2 State that light from the Sun is composed of a range of wavelengths (colours).
The light from the sun is composed of a range of wavelengths (colours).

3.8.3 State that chlorophyll is the main photosynthetic pigment.

Chlorophyll is the main photosynthetic pigment.

3.8.4 Outline the differences in absorption of red, blue and green light by chlorophyll.
Chlorophyll can absorb red and blue light more than green. Chlorophyll cannot absorb green light and
so instead reflects it making leaves look green.

3.8.5 State that light energy is used to produce ATP, and to split water molecules
(photolysis) to form oxygen and hydrogen.
Light energy is used to produced ATP and to split water molecules (photolysis) to form oxygen and
hydrogen.

3.8.6 State that ATP and hydrogen (derived from the photolysis of water) are used to
fix carbon dioxide to make organic molecules.
ATP and hydrogen derived from photolysis of water are used to fix carbon dioxide to make organic
molecules.

3.8.7 Explain that the rate of photosynthesis can be measured directly by the
production of oxygen or the uptake of carbon dioxide, or indirectly by an increase in
biomass.
Photosynthesis can be measured in many ways as it involves the production of oxygen, the uptake of
carbon dioxide and an increase in biomass. For example, aquatic plants release oxygen bubbles during
photosynthesis and so these can be collected and measured. The uptake of carbon dioxide is more
difficult to measure so it is usually done indirectly. When carbon dioxide is absorbed from water the
pH of the water rises and so this can be measured with pH indicators or pH meters. Finally,
photosynthesis can be measured through an increase in biomass. If batches of plants are harvested at
a series of times and the biomass of these batches is calculated, the rate increase in biomass gives an
indirect measure of the rate of photosynthesis in the plants.

3.8.8 Outline the effects of temperature, light intensity and carbon dioxide
concentration on the rate of photosynthesis.
As temperature increases, the rate of photosynthesis increases more and more steeply until the
optimum temperature is reached. If temperature keeps increasing above the optimum temperature
then photosynthesis starts to decrease very rapidly.

As light intensity increases so does photosynthesis until a certain point. At a high light intensities
photosynthesis reaches a plateau and so does not increase any more. At low and medium light
intensity the rate of photosynthesis is directly proportional to the light intensity.

As the carbon dioxide concentration increases so does the rate of photosynthesis. There is no
photosynthesis at very low levels of carbon dioxide and at high levels the rate reaches a plateau.

Chromosomes, genes, alleles and

mutations
4.1.1 State that eukaryote chromosomes are made of DNA and proteins.
Eukaryote chromosomes are made of DNA and proteins.

4.1.2 Define gene, allele and genome.

Gene: a heritable factor that controls a specific characteristic.

Allele: one specific form of a gene, differing from other alleles by one or a few bases only and
occupying the same gene locus as other alleles of the gene.

Genome: the whole of the genetic information of an organism.

4.1.3 Define gene mutation.

Gene mutation: a change to the base sequence of a gene. 
4.1.4 Explain the consequence of a base substitution mutation in relation to the
processes of transcription and translation, using the example of sickle-cell anemia.
Sickle cell anaemia is a genetic disease that affects red blood cells in the body. It is due to a mutation
on the Hb gene which codes for a polypeptide of 146 amino acids which is part of haemoglobin
(haemoglobin is an important protein component in red blood cells). In sickle cell anaemia the codon
GAG found in the normal Hb gene is mutated to GTG. This is called a base substitution mutation as
adenine (A) is replaced by thymine (T). This means that when the mutated gene is transcribed, a
codon in the messenger RNA will be different. Instead of the normal codon GAG, the messenger RNA
will contain the codon GUG. This in turn will result in a mistake during translation. In a healthy
individual the codon GAG on the messenger RNA matches with the anticodon CUC on the transfer RNA
carrying the amino acid glutamic acid. However, if the mutated gene is present then GUG on the
messenger RNA matches with the anticodon CAC on the transfer RNA which carries the amino acid
valine. So the base substitution mutation has caused glutamic acid to be replaced by valine on the
sixth position on the polypeptide. This results in haemoglobin S being present in red blood cells
instead of the normal haemoglobin A. This has an effect on the phenotype as instead of normal donut
shaped red blood cells being produced some of the red blood cells will be sickle shaped. As a result
these sickle shaped red blood cells cannot carry oxygen as efficiently as normal red blood cells would.
However, there is an advantage to sickle cell anemia. The sickle cell red blood cells give resistance to
malaria and so the allele Hbs on the Hb gene which causes sickle cell anemia is quite common in parts
of the world where malaria is found as it provides an advantage over the disease. 

Summary of important steps: 

Normal Gene Mutated gene

Codon GAG GTG

Transcription GAG on mRNA GUG on mRNA

Anticodon CUC and amino acid Anticodon CAC and amino acid valine on
Translation
glutamic acid on tRNA. tRNA.

Haemoglobin HbA HbS

Normal donut shaped red blood

Phenotype Sickle cell shaped red blood cells.
cells.

Carry oxygen efficiently but are Do not carry oxygen efficiently but give
Effects
affected by malaria. resistance to malaria.

Meiosis
4.2.1 State that meiosis is a reduction division of a diploid nucleus to form haploid
nuclei.
Meiosis is a reduction division of a diploid nucleus to form haploid nuclei. 

4.2.2 Define homologous chromosomes.

Homologous chromosomes: chromosomes with the same genes as each other, in the same sequence
but do not necessarily have the same allele of those genes.
4.2.3 Outline the process of meiosis, including pairing of homologous chromosomes
and crossing over, followed by two divisions, which results in four haploid cells.
Meiosis involves two divisions. Meiotic cells have an interphase stage before the start of meiosis I
which is similar to mitosis. It includes G1, S and G2 phases. (See notes on mitosis) After meiosis I
there is another brief interphase stage which is followed by meiosis II. 

Meiosis I
The first stage of meiosis I is prophase I. In prophase I the chromosomes pair up so that the
chromosomes in each pair are homologous. Once the homologous chromosomes are paired up,
crossing over occurs. Crossing over is the exchange of genetic material between non-sister
chromatids. The nuclear membrane also starts to break down and the spindle microtubules stretch out
from each pole to the equator. 

The second stage is metaphase I. Here the paired up homologous chromosomes line up at the equator
and the spindle fibbers attach to the chromosomes in a way that ensures that for each homologous
pair, one chromosome moved to one pole and the other moves to the opposite pole. 

The third stage is anaphase I. This is the stage where the homologous chromosomes are separated
and pulled to opposite poles. This halves the chromosome number however each chromosome is still
composed of two sister chromatids. The cell membrane starts to prepare for its separation at the
equator to form two cells.

The fourth stage is telophase I. Here each chromosome from the homologous pair are found at
opposite poles and the nuclear membrane reforms around each daughter nucleus. The membrane
then divides through citokinesis. 

There is a brief interphase stage before the start of meiosis II. This stage does not include the S
phase.

Meiosis II
The first stage of meiosis II is prophase II. Here the cell has divided into two daughter haploid cells
however the process does not end here as these two cells immediately start to divide again. The
spindle microtubules stretch out from each pole again and the nuclear membrane breaks down as in
prophase I. 

The second stage is metaphase II. Here the chromosomes in each cell line up at the equator and the
spindle microtubules attach to the centromere of each chromosome. 

The third stage is anaphase II. Here the centromere devised as a result of the spindle microtubules
pulling each sister chromatid to opposite poles in both cells. Each sister chromatid then becomes a
chromosome. 

The fourth stage is telophase II. Here the nuclear membrane reforms around the four sets of daughter
chromosomes. Cytokinesis then follows to divide the cytoplasm of the two cells and so the result is
four daughter cells each with a haploid set of chromosomes. 
 
 
4.2.4 Explain that non-disjunction can lead to changes in chromosome number,
illustrated by reference to Down syndrome (trisomy 21).
A number of problems can arise during meiosis. A common problem is non-disjunction. This is when
the chromosomes do not separate properly during meiosis, either in meiosis I  (in anaphase I) or
meiosis II (in anaphase II). This leads the production of gametes that either have a chromosome too
many or too few. Gametes with a missing chromosome usually die quite fast however gametes with
an extra chromosome can survive. When a zygote is formed from the fertilization of these gametes
with an extra chromosome, three chromosomes of one type are present instead of two. An example of
this is Down syndrome. Down syndrome is a disease in which the chromosomes failed to separate
properly during meiosis leading to three chromosomes of type 21 instead of two. A person with the
condition therefore has a total of 47 chromosomes instead of 46. The non-disjunction can take place
either in the formation of the egg or the sperm. Down syndrome leads to many complications and also
the risk of having a child with the condition increases with age. 

Below is a diagram illustrating a non-disjunction:

4.2.5 State that, in karyotyping, chromosomes are arranged in pairs according to their
size and structure.
In karyotyping, chromosomes are arranged in pairs according to their size and structure.

4.2.6 State that karyotyping is performed using cells collected by chorionic villus
sampling or amniocentesis, for pre-natal diagnosis of chromosome abnormalities.
Karyotyping is performed using cells collected by chorionic villus sampling or amniocentesis, for pre-
natal diagnosis of chromosome abnormalities. 

4.2.7 Analyse a human karyotype to determine gender and whether non- disjunction
has occurred.
Karyotyping can be used to determine gender of a fetus and look for chromosome abnormalities such
as non-disjunction. The gender can be deduced by looking at the sex chromosomes. Females will have
two X chromosomes while males have one X and one Y. We can distinguish this on with karyotyping
as the Y chromosome is smaller than the X. As for non-disjunctions we can see if a chromosome is
missing or if their is an extra one by looking at the number of chromosomes. If There should only be
two of each chromosome. Each 23 chromosomes should have a pair resulting in 46 chromosomes in
total. For example, if we notice that there are three chromosomes 21 then we can conclude that a
non-disjunction occurred. In this case, the non-disjunction results in Down’s syndrome. (trisomy 21) 

Below are two images of a karyotype. The first one is of a normal healthy male patient as on the
karyotype there are two chromosomes for each chromosome number and a Y chromosome is present.
The second image shows the karyotype a person with Down’s syndrome would get. 
Karyotype 1:

Karyotype 2:
Theoretical genetics
4.3.1 Define genotype, phenotype, dominant allele, recessive allele,
codominant alleles, locus, homozygous, heterozygous, carrier and test cross.
Genotype: the alleles of an organism.

Phenotype: the characteristics of an organism.

Dominant allele: an allele that has the same effect on the phenotype whether it is present in the
homozygous or heterozygous state.

Recessive allele: an allele that only has an effect on the phenotype when present in the homozygous
state.

Codominant alleles: pairs of alleles that both affect the phenotype when present in a heterozygote.

Locus: the particular position on homologous chromosomes of a gene.

Homozygous: having two identical alleles of a gene.

Heterozygous: having two different alleles of a gene.

Carrier: an individual that has one copy of a recessive allele that causes a genetic disease in
individuals that are homozygous for this allele.

Test cross: testing a suspected heterozygote by crossing it with a known homozygous recessive.

4.3.2 Determine the genotypes and phenotypes of the offspring of a

monohybrid cross using a Punnett grid.
4.3.3 State that some genes have more than two alleles (multiple alleles).
Some genes have more than two alleles (multiple alleles). 

4.3.4 Describe ABO blood groups as an example of codominance and

multiple alleles.
The ABO blood group is a good example of codominance and multiple alleles. There are three allele
that control the ABO blood groups. If there are more than two allele of a gene then they are called
multiple allele. The allele IA  corresponds to blood group A (genotype IAIA) and the allele IB corresponds
to blood group B (genotype IBIB). Both of these are dominant and so if IA and IB are present together
they form blood group AB (genotype IAIB). Both allele affect the phenotype since they are both
codominant. Codominant allele are pairs of allele that both affect the phenotype when present
together in a heterozygote. The allele i is recessive to both I A and IB so if you have the genotype IA i
you will have blood group A and if you have the genotype I B i you will have blood group B. However if
you have the genotype ii then you are homozygous for i and will be of blood group O. Below is a table
to summaries which genotypes give which phenotypes. 

PhenotypeGenotype 

A                    IAIA or IAi

B                    IBIB or IBi

AB                  IAIB

O                    ii

Below are diagrams illustrating the inheritance of the ABO blood groups.

4.3.5 Explain how the sex chromosomes control gender by referring to the
inheritance of X and Y chromosomes in humans.
There are two chromosomes which determine gender. These are called the sex chromosomes and
there are two types, the X and the Y chromosome. Females have two X chromosomes whereas males
have one X and one Y chromosome. The X chromosome is relatively large compared to the Y (which is
much smaller) and contains many genes. The Y chromosome on the other hand only contains a few
genes. The female always passes on to her offspring the X chromosome from the egg (female
gamete). The male can pass on either the Y or the X chromosome from the sperm (male gamete). If
the male passes on the X chromosome then the growing embryo will develop into a girls. If the male
passes on the Y chromosome then the growing embryo will develop into a boy. Therefore gender
depends on whether the sperm which fertilizes the egg is carrying an X or a Y chromosome. 

4.3.6 State that some genes are present on the X chromosome and absent
from the shorter Y chromosome in humans.
Some genes are present on the X chromosome and absent from the shorter Y chromosome in
humans. 

4.3.7 Define sex linkage.

Sex linkage: when the gene controlling the characteristic is located on the sex chromosome and so we
associate the characteristic with gender.

4.3.8 Describe the inheritance of colour blindness and hemophilia as

examples of sex linkage.
Most of the time sex-linked genes are carried on the X chromosome. Since females have two X
chromosomes they have two copies of the sex-linked gene whereas males only have one since they
only have one X chromosome. Hemophilia and colour blindness are both examples of sex linkage.
Hemophilia 
XH is the allele for normal blood clotting and is dominate over  Xh which is recessive and causes
hemophilia. If a mother is heterozygous she is a carrier of the disease but does not have hemophilia
as the dominate allele is present. She can however pass the disease on to her offspring. Below is a
punnett showing how a carrier mother and an unaffected father can pass the disease on to their
offspring. 

From our four possible outcomes we can see that a female child cannot get hemophilia but can be a
carrier. This is because the father will always pass on the dominate allele (X H) on the X chromosome in
females. Depending on whether the mother passes on the dominant or recessive allele will determine
if the female child is a carrier or is unaffected by the hemophilia. If the child is a boy then the father
has passed on the Y chromosome which does not contain the allele of the gene. So whether the child
has the disease or is unaffected depends on which allele the mother had passed on. If she has passed
on the recessive allele (Xh) then the male child will have hemophilia, however if she has passed on the
dominate allele (XH) then the child will be unaffected.

So there is a 50% chance of the child having hemophilia if it is male as half of the eggs produced by
the mother will carry the recessive allele. The chance of a female offspring having hemophilia is 0%
since the father always passes on the dominant allele on the X chromosome. Finally there is a 25%
chance overall that the offspring will be affected. 

4.3.9 State that a human female can be homozygous or heterozygous with

respect to sex-linked genes.
A human female can be homozygous or heterozygous with respect to sex-linked genes. 

4.3.10 Explain that female carriers are heterozygous for X-linked recessive
alleles.
Female carriers for X-linked recessive alleles are always heterozygous since they require a dominant
allele and a recessive allele to be carriers. They inherit the recessive allele from one parent and the
dominate allele from the other. For example hemophilia is a sex-linked disease. If a carrier mother
and an unaffected father have offspring then the unaffected father will always pass on his dominate
allele to his female offspring. The carrier mother can either pass on the dominate or recessive allele. If
she passes on the recessive allele to her female offspring than the female offspring will be a carrier as
well. 

4.3.11 Predict the genotypic and phenotypic ratios of offspring of monohybrid

crosses involving any of the above patterns of inheritance.
 Crossing between two heterozygous individuals gives a 3:1 ratio if one of the alleles is dominate and
the other is recessive. 

4.3.12 Deduce the genotypes and phenotypes of individuals in pedigree

charts.

 Squares represent males 

 Circles represent females 
 Shaded symbols represent affected individuals 
 Unshaded symbols represent unaffected individuals.

 If most of the males in the pedigree are affected the disorder is X-linked.
 If it is a 50/50 ratio between men and women the disorder is autosomal.
 If the disorder is dominant, one of the parents must have the disorder.
 If the disorder is recessive than neither of the parents has to have the disorder as they can be heterozygous.

Genetic engineering and

biotechnology
4.4.1 Outline the use of polymerase chain reaction (PCR) to copy and amplify
minute quantities of DNA.
 Polymerase chain reaction is used to copy and amplify minute quantities of DNA. It can be useful
when only a small amount of DNA is available but a large amount is required to undergo testing. We
can use DNA from blood, semen, tissues and so on from crime scenes for example. The PCR requires
high temperature and a DNA polymerase enzyme from Thermus aquaticus (a bacterium that lives in
hot springs).

4.4.2 State that, in gel electrophoresis, fragments of DNA move in an electric

field and are separated according to their size.
In gel electrophoresis, fragments of DNA move in an electrical field and are separated according to
their size.

4.4.3 State that gel electrophoresis of DNA is used in DNA profiling.

Gel electrophoresis of DNA is used in DNA profiling.

4.4.4 Describe the application of DNA profiling to determine paternity and also
in forensic investigations.
Organisms have short sequences of bases which are repeated many times. These are called satellite
DNA. These repeated sequences vary in length from person to person. The DNA is copied using
PCRand then cut up into small fragments using restriction enzymes. Gel electrophoresis separates
fragmented pieces of DNA according to their size and charge. This gives a pattern of bands on a gel
which is unlikely to be the same for two individuals. This is called DNA profiling. DNA profiling can be
used to determine paternity and also in forensic investigations to get evidence to be used in a court
case for example.

4.4.5 Analyse DNA profiles to draw conclusions about paternity or forensic

investigations.
For a suspect look for similarities between the DNA found at the crime scene and the suspect. For a
paternity test, look for similarities between the child and the possible father. 

4.4.6 Outline three outcomes of the sequencing of the complete human

genome.

 It is now easier to study how genes influence human development. 

 It helps identify genetic diseases.
 It allows the production of new drugs based on DNA base sequences of genes or the structure of proteins coded
for by these genes.
 It will give us more information on the origins, evolution and migration of humans. 

4.4.7 State that, when genes are transferred between species, the amino acid
sequence of polypeptides translated from them is unchanged because the
genetic code is universal.
When genes are transferred between species, the amino acid sequence of polypeptides translated
from them is unchanged because the genetic code is universal. 
 4.4.8 Outline a basic technique used for gene transfer involving plasmids, a
host cell (bacterium, yeast or other cell), restriction enzymes (endonucleases)
and DNA ligase.
The human gene that codes for insulin can be inserted into a plasmid and then this plasmid can be
inserted into a host cell such as a bacterium. The bacterium can then synthesis insulin which can be
collected and used by diabetics. This is done as follows. The messenger RNA which codes for insulin is
extracted from a human pancreatic cell which produces insulin. DNA copies are then made from this
messenger RNA by using the enzyme reverse transcriptase and these DNA copies are then given extra
guanine nucleotides to the end of the gene to create sticky ends. At the same time, a selected plasmid
is cut using restriction enzymes which cut the DNA at specific base sequences. Then extra cytosine
nucleotides are added to create sticky ends. Once we have both the plasmid and the gene ready,
these are mixed together. The two will link by complementary base pairing (between cytosine and
guanine) and then DNA ligase is used to make the sugar phosphate bonds. The plasmids with the
human insulin gene (called recombinant plasmids) can then be mixed with host cells such as
bacterium. The bacterium will take in the plasmid and start producing insulin which can then be
collected and purified.

4.4.9 State two examples of the current uses of genetically modified crops or
animals.

 The transfer of a gene for factor IX which is a blood clotting factor, from humans to sheep so that this factor is
produced in the sheep’s milk.
 The transfer of a gene that gives resistance to the herbicide glyphosate from bacterium to crops so that the crop
plants can be sprayed with the herbicide and not be affected by it.

4.4.10 Discuss the potential benefits and possible harmful effects of one
example of genetic modification.
It is quite common to see genetic modifications in crop plants. An example of this is the transfer of a
gene that codes for a protein called Bt toxin from the bacterium Bacillus thuringiensis to maize crops.
This is done because maize crops are often destroyed by insects that eat the corn and so by adding
the Bt toxin gene this is prevented as the toxin kills the insects. However this is very controversial as
even though it has many positive advantages, it can also have some harmful consequences. The table
below summarizes the benefits and possible harmful effects of genetically modifying the maize crops. 

Benefits Harmful Effects

Since there is less damage to the

We are not sure of the consequences of humans and animals eating
maize crops, there is a higher
the modified crops. The bacterial DNA or the Bt toxin itself could be
crop yield which can lessen food
harmful to human as well as animal health.
shortages.

Since there is a higher crop yield,

less land is needed to grow more Other insects which are not harmful to the crops could be killed.
crops. Instead the land can The maize pollen will contain the toxin and so if it is blown onto
become an area for wild life near by plants it can kill the insects feeding on these plants.
conservation.

There is a reduction in the use of
pesticides which are expensive
and may be harmful to the
environment, wild life and farm
workers.
Cross pollination can occur which results in some wild plants being
genetically modified as they will contain the Bt gene. These plants
will have an advantage over others as they will be resistant to
certain insects and so some plants may become endangered. This
will have significant consequences on the population of wild plants.
 4.4.11 Define clone.
Clone: a group of genetically identical organisms or a group of genetically identical cells derived from
a single parent cell. 

4.4.12 Outline a technique for cloning using differentiated animal cells.

Dolly the sheep was cloned by taking udder cells from a donor sheep. These cells were than cultured
in a low nutrient medium to make the genes switch off and become dormant. Then an unfertilized egg
was taken from another sheep. The nucleus of this egg cell was removed by using a micropipette and
then the egg cells were fused with the udder cells using a pulse of electricity. The fused cells
developed like normal zygotes and became embryos. These embryos were then implanted into
another sheep who’s role was to be the surrogate mother. One lamb was born successfully and called
Dolly. Dolly was genetically identical to the sheep from which the udder cells were taken.

4.4.13 Discuss the ethical issues of therapeutic cloning in humans.

There are many ethical issues involving therapeutic cloning in humans. Below is a table summarizing
the arguments for and against therapeutic cloning in humans. 

Arguments for Arguments against

Embryonic stem cells can be used for therapies that save lives and Every human embryo is a
reduce pain for patients. Since a stem cell can divide and potential human being and should
differentiate into any cell type, they can be used to replace tissues be given the chance of
or organs required by patients. developing.

More embryos are generally

Cells can be taken from embryos that have stopped developing and
produced than are needed and so
so these cells would have died anyway.
many are killed.

Cells are taken at a stage when the embryos have no nerve cells There is a risk of embryonic stem
and so they cannot feel pain. cells developing into tumour cells.

Meiosis
10.1.1 Describe the behaviour of the chromosomes in the phases of meiosis.
Two divisions occure during meiosis, these are termed meiosis I and meiosis II. Each division involves
the four stages of prophase, metaphase, anaphase and telophase.

Meiosis I

Prophase I

 Chromosomes coil up tightly and become visible under a light microscope

 Homologous chromosomes pair up and crossing over occures (the point of cross over is known as the chiasma)
 Nuclear membrane disintgrates and the centrioles travel to the poles of the cell

Metaphase I

 Microtubules form a spindle and the spindle fibers attach to the centromeres of the chromosomes
 Pairs of homologous chromosomes align along the equator 
 Anaphase I

 Spindle fibers shorten pulling paired homologous chromosomes in opposite directions

 Paired homologous chromosomes are seperated and pulled to opposite poles so that each pole contains one
chromosome of each pair.

Telophase I

 A nuclear membrane forms around the chromosomes at each pole and chromosomes uncoil
 The cell undergoes cytokinesis to form two daughter cells
 Forms two haploid cells 
 At the end of telophase I the cells may enter a short interphase period or proceed directly to meiosis II
 DNA is not replicated

Figure 10.1.1 - Meiosis I

Meiosis II

Prophase II

 Chromosomes coil up again

 Centrioles move to the cell poles
 Nuclear membrane disintergrates 
 Metaphase II

 Spindle fibers attach to the the centromeres

 Chromosomes align along the equator 

Anaphase II

 Spindle fibers shorten

 Centromeres split 
 Chromatids of each chromosome travel to opposite poles

Telophase II 

 Nuclear membrane forms around the chromatids at each pole, once the membrane is formed, each chromatid is
then called a chromosome. 
 Both cells undergo cytokinesis to form four cells
 Chromosomes uncoil
 Nucleoli form

Figure 10.1.2 - Meiosis II

10.1.2 Outline the formation of chiasmata in the process of crossing over.
In prophase I the four sister chromatids of a pair of homologous chromosomes become tightly linked
in a process called synapsis. A cut is made in the DNA molecule of one of the chromatids. Following
this another cut is made at the same point in the DNA molecule of a non-sister chromatid. The DNA of
the one chromatid binds to the DNA of the non-sister chromatid. Paternal and maternal chromosomes
can then exchange genetic material. This is called crossing over. Once crossing over is finnished the
homologous chromosomes are no longer tightly linked however the connection between the non-sister
chromatids remains, forming an X - shaped structure called a chiasma. The chiasma links homologous
chromosome pairs together and remains until late metaphase I.

10.1.3 Explain how meiosis results in an effectively infinite genetic variety in

gametes through crossing over in prophase I and random orientation in
metaphase I.
Two processes result in the infinite genetic variety in gametes. These are crossing over in prophase I
and the random orientation of chromosomes in metaphase I.

Crossing over is important for genetic variety as it allows the exchange of genetic material between
the maternal and paternal chromosomes. This forms chromatids with new combinations of alleles
(recombination of linked genes). The chromatids which have a combination of allele different to that of
either parent are called recombinants. It is also important to note that crossing over occures at a
random point and more than one chiasma can form per homologous pair. This means that meiosis can
result in almost an infinite amount of genetic variety. 

The random orientation of homologous chromosomes at the equator in metaphase I also plays a vital
role in genetic variety. Since the homologous pairs of chromosomes are orientated randomly at the
equator, either maternal or paternal homolgue can orient towards either pole. The number of possible
orientations is equal to 2 raised to the power of the number of chromosome pairs. For example, for a
haploid number of n, 2n is the number of possible outcomes. Humans have a haploid number of 23.
223 gives a value of over 8 million. This means that there are over 8 million possible combinations just
through the radom orientation of the homologous chromosmes. If we add the effects of crossing over,
the number of combinations increases even further. Therfore, these two processes allow infinit genetic
variety in gametes.

10.1.4 State Mendel?s law of independent assortment.

Allele pairs seperate independently during gamete formation which means that the transmission of
traits to offspring are independent to one another.

10.1.5 Explain the relationship between Mendel?s law of independent

assortment and meiosis.
During metaphase I of meiosis the homologous pairs of chromosomes align along the equator. The
orientation of the chromosomes is random. This means that when the pairs of homologous
chromosomes move to opposite poles during anaphase I, either chromosome can end up at either
pole. This depends on which way the pair is facing (occurs randomly). Also, which ever way the pair is
facing does not affect which way the other homologous chromosome pairs are facing. This is known as
idenpendent orientation and forms the basis of Mendel's law of independent assortment. Unlinked
genes are found on different chromosomes so when the homologous chromosome pairs seperate it
allows the formation of daughter cells with random assortemnets of chromosomes and alleles.

Dihybrid crosses and gene linkage

 10.2.1 Calculate and predict the genotypic and phenotypic ratio of offspring of
dihybrid crosses involving unlinked autosomal genes.
A dihybrid cross is a cross between first generation offspring of two individuals which have two
different characteristics. These two characteristics are controled by two genes. 

We can use dihybrid crosses to calculate and predict the genotypic and phenotypic ratio of offspring
involving unlinked autosomal genes. For example: Let's say we cross two cats with two different
characteristics such as fur colour and fur length. For this example we will be using the alleles as
follows:

 S = allele for long fur

 s = allele for short fur
 B = allele for black fur
 b = allele for brown fur

Figure 10.2.1 - Dihybrid cross

10.2.2 Distinguish between autosomes and sex chromosomes.

Sex chromosomes are the ones that determine your gender. These are X and Y (XX in females, XY in
males).
Autosomal chromosomes are the remaining chromosomes which are not sex chromosomes. There are
22 pairs of these in humans. This means that there is a total of 23 pairs of chromosomes in humans
(22 autosomal pairs + 1 sex chromosome pair = 23 pairs of chromosomes).

10.2.3 Explain how crossing over between non-sister chromatids of a homologous

pair in prophase I can result in an exchange of alleles.

10.2.4 Define linkage group.

Linkage group: A pair or set of genes on a chromosome which tend to be inherited together.

10.2.5 Explain an example of a cross between two linked genes.

10.2.6 Identify which of the offspring are recombinants in a dihybrid cross involving
linked genes.