2.

1: (i) Know how the properties of gas exchange surfaces in living organisms (large surface area to
3volume ratio, thickness of surface and difference in concentration)

 Exchange of gases occur by diffusion.

 Decrease in the surface area to volume ratio, makes the diffusion more difficult to supply
materials for cells.
 Large organisms have circulatory system and respiratory system to exchange gases with the
environment. (Lungs in mammals and gills in fish) are examples of respiratory system.
 Most of human respiratory systems are found in lungs, they are linked with the outside world
through mouth and nose.
 The nasal passages have a large surface area but no gaseous exchange take place there, they
have a good supply of blood and the lining secretes mucus which is covered by hair. That means
the external air is prepared before entering the rest of the system. The hair and mucus filter the
bacteria and small particles that we breathe in.

In the lungs, most of gaseous exchange occurs in the alveoli. It’s made up of single layer of flattened
epithelial cells. The capillaries that run close to the alveoli have wall which are one cell thick.

 Gaseous exchange occurs by a process of simple diffusion between alveolar air and
deoxygenated blood in capillaries.
 Gas exchange in the lungs happens in the alveoli:
 oxygen diffuses into the bloodstream from the air
 carbon dioxide diffuses into the air from the bloodstream
 This happens because the concentration of oxygen in the air is higher than its concentration in
the blood, and the concentration of carbon dioxide in the blood is higher than its concentration
in the air.

The alveoli have a natural tendency to collapse, but it’s prevented by a special phospholipid known
as lung surfactant. It reduces the effort needed to expand the lungs during inspiration.
Alveoli have several adaptations for efficient gas exchange:

 they are permeable (they let substances pass through their surface)

 they have a thin lining, just one cell thick

 Good blood supply

Respiratory system adaptations:

 Short diffusion distance –The walls of the alveoli are one cell thick and capillaries are one cell
thick, so the distance for diffusion is short

 Large surface area – more gaseous exchange occur

 Steep concentration gradient

Blood is constantly flowing through the capillaries past the alveoli, exchanging gases. The continuous
flow of the blood maintains the concentration gradient on the capillary side and by ventilation which
ensures that air moves in and out of the lungs regularly. Diffusion becomes less efficient over larger
distances.

 Gas exchange is when oxygen is transferred from the air in the lungs to the blood and
carbon dioxide is transferred from the blood to the air in the lungs. It occurs in the alveoli of
the lungs.The lungs have 5 main specialisations to allow efficient gas exchange:1. A large
surface area for more gas exchange to occur over.2. A moist surface to dissolve gases and
increase their rate of diffusion.3. Thin walls so that gases diffuse over a shorter distance.4. A
large blood supply so that steep concentration gradients for carbon dioxide and oxygen to
diffuse down are maintained. 5. Ventilation through breathing to remove carbon dioxde and
bring in new oxygen. This helps maintain steep concentration gradients for both gases.
 Movement of gases in alveoli is Diffusion and movement of air in lungs is mass transport
system
Factors affecting rate of diffusion:

 Surface area

The larger the surface area, more particles are exchanges.

 Concentration gradient

The more there are on one side of membrane compared with the other, the faster they move
across.

 Distance in which diffusion is taking place

The shorter the distance, the faster diffusion rate.

Fick’s law: A law that describes the relationship between the

surface area, concentration gradient, thickness of the gas exchange surface and shows how these
factors effect the rate of diffusion.

Rate of diffusion Surface area x concentration gradient

Thickness of gas exchange membrane

 The rate of diffusion is directly proportional to the surface area

As the surface area increases, rate of diffusion increases
 The rate of diffusion is directly proportional to concentration gradient
The greater the concentration gradient, the faster rate of diffusion
 The rate of diffusion in inversely proportional to thickness
The thicker the membrane, the longer the surface area and shorter diffusion

2.2:Know the structure and properties of cell membrane and know how models such as fluid mosaic
model of membrane structure are interpretations of data used to develop scientific explanations of the
structure and properties of cell membranes

 All the membranes act as a barrier, they control what goes in and out from them.
 Many chemical reactions take place on the surface of the membrane
Example: Respiration takes place on mitochondria membrane
Enzymes and other factors needed to make the reactions go are held closely together so that
the process can be proceed from one reaction to another.
 The cell surface membrane is flexible to allow the cell to change It’s shape as water content
changes
 The structure of cell membrane:

The cell membrane is made up of two types of molecules:

1) Lipids
2) Proteins

The lipids in the membrane are of particular type called polar lipids. These are lipids with one end
joined to a polar group. Many polar lipids in the membrane is phospholipids, with a phosphate
group forming the polar part. The fatty acid chain of a phospholipid are insoluble in water while the
phosphate head is soluble and carries the negative charge.

 When these phospholipids comes into contact with water,

the two parts behave differently:

o The phosphate hydrophilic polar heads in water

o Hydrophobic non polar fatty acid tails in air
 With water on each side, the phospholipid molecules form a bilayer
o Hydrophilic head pointing into water
o Hydrophobic fatty acid tails are protected in the middle

Phospholipid bilayer allows fat small soluble such as: Co2 , O2 , vitamins
A,E,D,K , glycerol, alcohol and NH3 to pass easily through the
membrane by diffusion while large hydrophilic and ions substances
can’t pass through and so they are transported to protein.

The permeability of the membrane to polar (water soluble) molecules is very low,
and the permeability is particularly low to large polar molecules. The permeability to charged molecular
species (ions) is very low. Therefore, the passage of most molecules and ions is aided by the presence of
specific membrane transport proteins.

The proper way to state these features is to say that the membrane is highly permeable to lipid-soluble
molecules, or that the membrane is not permeable to ions. It may also be said that membrane
permeability is high for lipid-soluble molecules, and that membrane permeability is low for ions and
polar molecules. Another way of stating this is that lipid-soluble molecules are highly permeant, or that
ions are impermeant (i.e., not permeant).
Properties of phospholipids:

 Glycerol and fatty acids are non- polar and do not become negative charged so they are repelled
by water and said to be hydrophobic
 The phosphate head has negative charge and it’s a polar molecule, it said to be hydrophilic.

Phospholipids are important in plasma proteins because they give the membrane “fluid-mosaic”
structure. They are referd as fluid because phospholipids molecules can move sideways and exchange
place and as mosaic because proteins are randomly inserted to the membrane surface.

Difference between structure of triglyceride and phospholipid:

 Phospholipids contains two fatty acids and triglycerides contains three

 Phospholipids contains a phosphate
 Phospholipids contains alcohol
Proteins

There are two types of protein when discussing the cell membrane, those being intrinsic proteins and
extrinsic proteins. Intrinsic proteins are proteins embedded in the cell membrane, extrinsic proteins
being those not embedded within the cell. What decides whether a protein is intrinsic or extrinsic is the
proteins charge - if the protein is completely charged then the protein will be extrinsic as it will be
repelled by the non polar fatty acid tails. If the protein is partially charged or not charged at all then the
protein will be intrinsic as it will be drawn towards the non polar fatty acid tails.

Functions of proteins:

 Help substances to move across the membrane.

 They form channel or pores, some permanent, some temporary which
allows specific molecules to move through.
 They may act specific receptor, for example making cells sensitive to
specific hormones.

Glycoproteins

It’s a protein with a carbohydrate part added to the molecule, they are
important as a way of cells recognizing each other.

Functions of glycoproteins:

 As a transporters

Some proteins are able to identify and attach to specific molecules.

 As a receptors

Some proteins recognize and bind to target molecules, such as hormones

Cholesterol

Cholesterol helps to regulate fluidity of the membrane and also to provide mechanical stability of the
membranes - without it cells will burst open as their membranes break. It binds to the hydrophobic
tails packing them closely together, the more cholesterol, the less fluidity and more stability and the less
permeability.

Cholesterol is also important in keeping membrane stable at normal body temperature, without it cells
would bursts
2.3: investigate the effect of alcohol concentration temperature and on membrane permeability
2.4: understand what is meant by osmosis

Is the net movement of water molecules from high water potential to low water potential, down the
concentration gradient through partially permeable membrane.

The random movement of particles result in even distribution of both solute and solvent particles. A
partially permeable membrane allows only the solvent molecules and small solute molecules to move
freely in osmosis

Investigate tissue water potentials using plant tissue and graded concentrations of solute

There are three types of osmosis solutions: the isotonic solution, hypotonic solution, and hypertonic
solution.

 An isotonic solution is when the solute concentration is balanced with the concentration inside
the cell. In an isotonic solution, the water movement still moves between the solution, but the
rates are the same in both directions, thus the water movement is balanced between the inside
of the cell and the outside of the cell.

 A hypotonic solution is when the solute concentration is lower than the concentration inside the
cell. In a hypotonic solution, the water moves into the cell and can cause the cell to swell; cells
that don’t have a cell wall, such as animal cells, could explode in this type of solution.

 A hypertonic solution is when the solute concentration is higher than the concentration inside
the cell. In a hypertonic solution, the water moves out of the cell and causes the cell to shrivel.
  In hypotonic: The osmotic concentration of solutes is lower than in cytoplasm, water
will move from outside to inside.
plants cells become turgid
 In isotonic : has the same osmotic concentration as cell
 In hypertonic: The osmotic effect of solutes is higher than in cytoplasm. Plant cell will
become flaccid and the cytoplasm is pulled away from the cell membrane
“plasmolysed”.

In animal cell

Hypotonic: Cells will bursts.

Hypertonic: shrinks and becomes crenated.

2.5: understand what is meant by passive transport, active transport ( the role of ATP as an immediate
source of energy) endocytosis and exocytosis and the involvement of carrier and channel protein in
membrane transport

Passive transport : this is the movement of substances through the cell membrane where the cell
doesn’t consume any energy. Passive transport has the following methods:

1- Diffusion

 The movement of molecules through the membrane from a region of high concentration to a
region of low concentration, which makes the concentration of molecules on both sides equal.

For example, the exchange of carbon dioxide and oxygen gases between the inner and outer mediums
of the cell during the respiration process.

 If you large numbers of molecules tightly packed together, random motion will result in their
spreading out and reaching a normal distribution. The movement no longer cause a net charge
because equal numbers are moving in all directions

2- Facillitated diffusion

Large hydrophilic molecules and ions larger than CO2 molecules cannot
move through the membrane by simple diffusion, they move in and out of
the cells by special form of diffusion called facilitated . It involves proteins
in the membrane which allows only specific molecules to enter down the
concentration gradient. There may be channel protein which forms pores through the membrane. Each
type of protein allows one particular type of molecules, depending on it’s shape. Some are sodium
channels or potassium. Some channels open only when specific molecules are present in the membrane
Active transport
Active transport is the transport of big molecules and ions through the cell membrane against their
concentration gradient (from low to high concentration) using energy from respiration.

 Active transport involves a carrier protein. It may be very specific picking up one type of
molecule, or it may work for similar substances which have to compete with each other for a
place on the carrier.
 The energy needed for active transport is provided by adenosine triphosphate (ATP). The ATP is
produced during respiration, so cells that carry a lot of active transport have a lot of
mitochondria to carry out respiration and supply ATP.
 The active transport carrier system involves the enzyme ATPase. This enzyme catalyses the
breakdown of ATP, removing a phosphate group to form ADP. Energy is released by the breaking
of this bond
When large molecules need to enter or leave the cells, for example when white blood cells ingest
bacteria or gland secrete a hormone, endocytosis and exocytosis do this.

Endocytosis
Endocytosis is a type of active transport that moves particles, such as large molecules, parts of cells, and
even whole cells, into a cell and it’s when substances are taken in into the cells across the membrane
through the formation of vesicle and they can release it’s content into the cytoplasm

There are two types of endocytosis:

1) Phogocytosis
2) Pinosytosis

Phagocytosis

 It is cell eating
 Solid particles or substances that are too large to pass through are taken in by phagocytosis
 Bacteria digestion is an example of phagocytosis, once the bacteria has entered the cell in a
vesicle, it fuses with the other vesicle containing lysosome that digest it.
 . In phagocytosis, the cell surface membrane produces two extensions
the cell membrane surrounds the particle and engulfs it.

Pinocytosis

 It is cell drinking
 Tiny amounts of the surrounding fluid are taken into the cells
 The cell surface membrane invaginates which allows the fluid to flow inwards,
then the fluid is closed by a vacuole

Exocytosis
Is a form of emptying the membrane lined vesicle at the surface of the cell.In cells
producing hormones, vesicles containing the hormone fuse with the cell surface
membrane

 Vesicle formation is common between endocytosis and

exocytosis
2.6:Know the basic structure of amino acids and the formation of polypeptide and protein.

 About 18% of your body is made up of protein. Proteins form your hair, nails, skin, enzymes that
digest your food and many hormones.
 Proteins contains carbon, hydrogen, oxygen and nitrogen.
 Proteins are very large molecules made up monomers called amino acids.

Amino acids

The basic structure of amino acids is:

 Amino group ( NH2 ) and a carboxyl group ( COOH ) attached to a carbon atom.
 The group known as R varies between amino acids. It affects the way amino acids bonds with
each other in protein depending on whether it is polar or not.

Amino acids join together in a reaction between the amino group of one amino acid and the carboxyl
group of another amino acid. They join together in a condensation reaction and molecule of water is
removed

Other bonds are formed in proteins :

1) Hydrogen bonds

In amino acids, tiny negative charges found in the oxygen of the carboxyl group and tiny positive
charges found in the hydrogen of the amino group. When these charged groups are close to each
other, the opposite charges attract forming hydrogen bond. They are easily broken down and
reformed if PH and temperature conditions changes.

 They are important in the foiling and coiling of the polypeptide bond
 2) Sulfur bridges

They are formed when two cysteine or methionine are close together in the structure of
polypeptide , they are much stronger than hydrogen bonds but occur less much less often.

 They are important for holding the folded polypeptide chain

3) Ionic bonds

Normal ionic bonds are formed between some strongly positive and negative amino acid chains.

Protein structure

Protein are described by their primary, secondary, tertiary and quaternary structure.

Primary structure:

 The primary structure is the basic sequence of amino acids that make up a polypeptide chain.

 Two amino acids join in a condensation reaction

 Forming a dipeptide with a peptide bond between the two subunits

 This process is repeated to form polypeptide chains

 A protein is made of one or more polypeptide chains

Secondary structure;

Hydrogen bonding between amino acids can produce a repeating three- dimensional structure known as
the secondary structure

 Interactions between the amino acids in the polypeptide chain cause the chain to twist into an
α-helix or fold into a β-pleated sheet.

 Hydrogen bonds between the carboxylic and amine group

Tertiary structure:

The amino acid chain , including any alpha helix or pleated sheets are folded into further complicated
shapes. These three dimensional shapes are held in a place by hydrogen bonds, sulfur bridges and ionic
bonds between amino acids

Quaternary structure:

quaternary structure of a protein is the 3D arrangement of more than one tertiary polypeptide.
  The different kinds of weak bonds that hold three dimensional of proteins are easily
affected by changes in conditions such as temperature or pH. Even small changes in these
conditions can cause the bond to break resulting in loss in the three dimensional structure
of protein, we say it is denatured
 The three dimensional structure of protein is important to the way it works, changing
conditions inside the body can cause proteins to stop working properly.

Globular proteins

 They have complex tertiary and quaternary structures

 They are folded into globular shapes
 They are soluble in water because globular proteins are folded such that their tertiary structure
consists of the polar, or hydrophilic, amino acids arranged on the outside and the nonpolar, or
hydrophobic, amino acids on the inside of the three dimensional structure.
 They form enzymes, hormones antibodies and they are also important in maintain the
structure of cytoplasm.
 Globular proteins have roles in metabolic reactions:
 Enzymes - catalyse metabolic reactions
 Haemoglobin - binds to oxygen to transport it around body

Haemoglobin

 4 polypeptide chain
 2 alpha and 2 beta
 Hydrophobic R group point inwards to maintain a three
dimensional shape
 Hydrophilic R group point outwards to maintain solubility
Fibrous proteins

 They have no tertiary or quaternary structure

 They are long, parallel polypeptide chain
 They are insoluble in water and very tough
 Collagen is fibrous protein

Collagen

Collagen has many functions:

 form the structure of bones

 Makes up cartilage and connective tissue
 Prevents blood that is being pumped at high pressure from bursting the walls of arteries
 Is the main component of tendons, which connect skeletal muscles to bones

 Difference between collagen and haemoglobin

 The Biuret Test shows the presence of peptide bonds, which are the basis for the formation of
proteins. These bonds will make the blue Biuret reagent turn purple.

Add biuret solution. A purple colour indicates the presence of protein.

  The characteristics of all organisms are determined by the particular proteins which are present
 The synthesis of these proteins involves two types of nucleic acid: DNA and RNA

Nucleic acid are the information molecules of the cells, they carry all the information needed to form
new cells. The information is stored in the chromosomes in the nucleus of cytoplasm.

 They are DNA or RNA

Both DNA and RNA are polymers, the single unit is mononucleotides or nucleotides.

 Each mononucleotides are made up of 3 parts: Pentose sugar, phosphate acid and nitrogen
containing base.
1. Phosphate group is the same in all
nucleotides
2. Pentose sugar in:
o RNA ---- Ribose sugar
o DNA ---- deoxyribose sugar

3. The sugar, the base and the phosphate group are joined together in a condensation
reaction to form the nucleotides.
 In DNA, we have four different bases:
 Adenine (A) ----- Thymine (T)
 Cytosine (C) ----- Guanine (G)
 In RNA:
 Adenine (A) ----- Uracil (U)
 Cytosine (C) ----- Guanine (G)

There are two types of nitrogenous bases:

Purines:
 Adenine (A) and guanine (G) are purines
 They have two nitrogen containing bases
 They are larger than pyrimidines
Pyrimidines:
 Cytosine (C), Thymine (T) and uracil (U) are pyrimidines
 They have one nitrogen containing base
 They are smaller than purines
The components of nucleotides are joined together by a condensation reaction. Individuals nucleotides
are then joined together by a condensation reaction between a phosphate group of one nucleotide and
a pentose sugar of another nucleotide.(phosphodiester bond) This linkage of nucleotides forms a long
chain called polynucleotide. This makes up a the basic structure of both DNA and RNA.

 RNA molecules form a single polynucleotide strands which can be folded into
complex shapes or remain as long thread molecules.
 DNA is made up of two polynucleotides twisted around each other. The DNA
forms helix. The two strands of nucleotides are anti – parallel, they run in
opposite direction to each other. The two strands are held together by a
hydrogen bond between nitrogenous bases:
o A with T
o C with G
 There are two hydrogen bonds between adenine and thymine and three hydrogen bonds
between cytosine and guanine

DNA
Formed in the nucleus
Double strand of nucleotides coiled
into a double helix
Deoxyribose sugar present
Bases present: A,C,G,T
Larger molecule
RNA
Formed in the nucleus
Single strand of nucleotides which
can be folded into different shapes
Ribose sugar present
Bases present: A,U,G,C
Smaller molecule
DNA Replication

 DNA Replication is How DNA Makes Copies of Itself. Before a cell divides
 DNA replication is said to be semi-conservative replication. This means two new double helixes
of DNA is produced, one of the strands of helixes is from the original DNA strand and the other
is new.

 DNA Ligase is responsible for the joining of DNA fragments by catalyzing the formation
of phosphodiester bonds between nucleotides
 DNA polymerase is responsible for the synthesis of DNA from it’s building blocks using
template DNA
 DNA helicase separates double strands of DNA into a single one, allowing each strand
to be copied

Replication has started:

1. DNA helicase moves along the DNA double helix, unwinding and unzipping it by
breaking the hydrogen bonds between nitrogenous bases.
2. The exposed bases attract free DNA nucleotides and new hydrogen bond is formed between
complementary bases. The enzymes ligase and polymerase join nucleotides to form new DNA
strands
3. The result is two new strands of DNA identical with the original piece
 There are three possible ways to use the DNA template to replicate DNA; conservative, semi-
conservatively or dispersive replication. Meselson and Stahl's experiment sought to establish
which one was correct.

 Semi-conservative replication. In this model, the two strands of DNA unwind from each other,
and each acts as a template for synthesis of a new, complementary strand. This results in two
DNA molecules with one original strand and one new strand.
 Conservative replication. In this model, DNA replication results in one molecule that consists of
both original DNA strands (identical to the original DNA molecule) and another molecule that
consists of two new strands (with exactly the same sequences as the original molecule).
 Dispersive replication. In the dispersive model, DNA replication results in two DNA molecules
that are mixtures, or “hybrids,” of parental and daughter DNA. In this model, each individual
strand is a patchwork of original and new DNA.

1. E.coli were cultured in a growth medium containing nitrogen in

the form of isotope 15N (known as heavy nitrogen)
2. By leaving the E.coli in the culture for a long period of time, all
DNA in the E.coli become made up of heavy nitrogen
3. The E.coli containing heavy nitrogen were then placed in a
medium containing normal nitrogen 14N , so that any new DNA
manufactured would be from normal nitrogen
4. The E.coli was allowed to divide once and the first generation
cells were collected then.
5. When the DNA was extracted from the cells and the relative
weight was determined , the molecular weight was determined of the DNA was found
to be intermediate between heavy and light types. This confirmed that the DNA was
made up of one original (heavy) strand of DNA and one new ( light) strand of DNA –
semi – conservative replication
Proteins are made up of amino acids, there are only 20 amino acids that combines to make up a protein,
but joined in countless combination, they make up an almost infinite variety of proteins.

 The amino acids that joined together to build proteins using the code from DNA is a process
called translation, it happens on the surface of ribosomes.

The genetic code

A triplet of bases are codon. A codon is the unit of the genetic code and each codon will relate to the
same amino acid.

 There is 4 types of nitrogenous bases, with three possible combinations = 64 but only 20 amino
acids found in proteins
 There is 61 codons that code for amino acids.
o 3 stop codon
o 1 starting codon, that codes for methionine

Characteristics of the genetic code:

 Triplet nature
A triplet code could make a genetic code for 64 different combinations (4 X 4 X 4) genetic code.
 Degeneracy
The code is degenerate which means that the same amino acid is coded by more than one base
triplet. For example, the three amino acids arginine, alanine and leucine each have six
synonymous codons
 Nonoverlapping
The genetic code is nonoverlapping, i.e.,the adjacent codons do not overlap. A nonoverlapping
code means that the same letter is not used for two different codons. In other words, no single
base can take part in the formation of more than one codon.
 Gene is a base sequence of DNA which codes for a sequence of amino acids in a polypeptide
chain.
The sequence of codons which make up a gene will determine the sequence in which amino
acids is assembled into polypeptide chain.

Protein synthesis
Proteins are polypeptide chain. The process of protein synthesis involves two stages:
1. Transcription, it occur in nucleus and involves DNA and mRNA
It is the copying of genetic code from DNA onto mRNA
2. Translation and it involves mRNA , tRNA and ribosomes
The assembly of a polypeptide from the genetic code on the mRNA

tRNA

tRNA is about 80 nucleotides long and it’s clover in shape. There are 20 different types of tRNA
molecule, one for each amino acid. One end contains triplet of exposed nucleotides called anti codon
which is complementary to one of the codons found in the mRNA. The other end of the tRNA molecules
has a site of attachment for specific amino acid. The amino acid which becomes attached to it must
correspond to the anticodon at the other end.

 Each molecule of tRNA picks up it’s own amino acid, by matching it’s
anticodon to the complementary codon on the mRNA, the amino acid can
be assembled into correct sequence

Transcription

In transcription, mRNA molecule is made.

 DNA double helix unzips and uncoils with the help of DNA helicase,
hydrogen bond between complementary bases is broken down.
 RNA mononucleotides are attached to the exposed DNA mononucleotides, they attach to the
anti-sense strand. Complementary base pairing take place
 Phosphodiester bond form between the RNA mononucleotides so mRNA is made
 mRNA leaves the nucleus through nucleic pores and attach to the ribososme

Translation

 MRNA is a copy of the DNA

 mRna then attaches to the ribosomes
 tRNA attaches itself to the mRNA codons with it’s anti codons by complementary base pairing
 specific amino acids is made by the bonding of codons and anti codons
 these amino acids are joined to the tRNA, polypeptide bond is formed between amino acids
 polypeptide bond is formed between amino acids by the help of enzyme peptide synthetase
 Replication Protein synthesis

Uses DNA nucleotides Uses RNA nucleotides

Uses DNA polymerase Uses RNA polymerase

Follow a semi conservative pattern Dosen’t follow a semi conservative pattern

Copies both DNA strands Copies one strand of RNA

Makes a DNA double helix Make single strand mRNA

  Mutation is the change in the base sequence of DNA.
What causes mutations?
Mutations can occur naturally.
However if you are exposed to things like nuclear radiation including X rays and
UV rays. Also, chemicals in tobacco smoking, mutations are much more likely.
 Gene mutation: Change in the structure of DNA molecule produces a different
allele of gene.
 Chromosomal mutation: change in the structure of a whole chromosome in cell

Types of mutation:

1. Base substitution
A substitution is a mutation that exchanges one base for another.
2. Base addition
Is the addition of one or more nucleotide base pairs into a DNA sequence
3. Base deletion
Is when a base is deleted.
 Base addition and deletion have a very significant effect on the structure and the function of the
polypeptide that allele codes for.

If one base is lost:

1. All the other bases moves up

2. All the codons in the mRNA is different
3. All the amino acids are different
4. Polypeptide folds into different shapes and the enzyme cannot function because the
active site shape is different

If on base is substituted:

1. One triplet is different

2. One codon is different
3. One amino acid is different
4. Polypeptide folds into different shape and the enzyme cannot function properly because the
active site shape is different.
Mutation can happen to any cell at any time but they occur most commonly when DNA is copied for cell
division. Mutation in the cell of the body can causes serious problems such as cancer but the most
damaging muatation are the ones that happens in the gametes because they are passed on to future
offspring.

Gene: Is a base sequence of DNA that codes for the sequence of amino acids in a polypeptide chain

Allele: is one of the possible forms of a gene. Most genes have two alleles, a dominant allele and a
recessive allele.

A physical and chemical characteristics that make up the appearance of an organism are known as
phenotype, for example: the shape of cabbage, color of a flower or a shape of nose.

 A phenotype is result of genetic information passed from parents to their offspring and partly
the effect of the environment in which the organism lives.

The genotype is the set of genes in our DNA which is responsible for a particular trait

 If both alleles are coding for a particular characteristics is identical, then the organism is
homozygous
 If both alleles are coding for a particular characteristics is different, then the organism is
heterozygous

When allele pairs are the same, they are homozygous. When the alleles of a pair
are heterozygous, the phenotype of one trait may be dominant and the other recessive. The dominant
allele is expressed and the recessive allele is masked.

Codominance

A form of dominance in which the alleles of a gene pair in a heterozygote are fully expressed thereby
resulting in offspring with a phenotype that is neither dominant nor recessive.

 typical example showing codominance is the ABO blood group system.

 Monohybrid crosses
A monohybrid cross is the study of the inheritance of one characteristic. In the genetic diagrams
for these crosses:
 the recessive allele is represented by a lower case letter
 the dominant allele is represented by an upper case letter
 someone with two identical copies of an allele is homozygous for that particular gene
 someone with two different alleles for a particular gene is heterozygous for that gene

Genetic Pedigrees

 In these diagrams, people are represented

by symbols, usually circles for female and squares
for male, and the bottom line represents the
children of the couple above.

It is customary to use dark symbols to indicate

someone affected with a genetic condition, and
unfilled symbols for those who are unaffected. In
the explanations that follow, an intermediate grey
colour is used to assist in understanding the effect of a heterozygote carrier.

Huntington's disease (Huntington's chorea)

Genetic explanation

Since the condition is shown in some of the first generation

offspring but not in some others, this is not a simple cross between
2 different homozygotes. One parent must be heterozygous, and
the allele for the condition must be dominant to the allele for
absence of the condition. The dominant allele is denoted by an
upper case letter e.g. H as distinct from the lower case version of
the same letter h for the normal allele (recessive, in this case).

Note also that in this case the appearance of the condition is

independent of the sex of the individual.
Genetic diagram