A change in the DNA that could

Mutation result in a non-functioning protein

A section of DNA that contains a

code for making a polypeptide and
functional RNA

Gene

A change in the
base sequence of
DNA

Gene mutation
Randomly occur
during DNA
replication
More likely to
occur if you are
exposed to
mutagenic agents

Microbes grow rapidly

Microbes can be genetically
engineered
Microbes can be flavoured to taste
Advantages of like anything
There are no ethical concerns about
microorganisms growing microbes
Microbes are rich in protein and low
in fat (beneficial for foods made
from them, like Quorn)
Types of gene Insertion
Deletion

mutation Substitution

One extra base is added to the

Addition DNA sequence
Causes all subsequent codons to

mutation be altered (frameshift)

One base is deleted in the DNA

Deletion sequence.
Causes all subsequent codons to

mutation be altered (frameshift)

One base is swapped in the DNA

Substitution sequence
May result in a different amino
acid being coded for.

mutation May have no effect as the genetic

code is degenerate
 A change in all the codons after the
point of mutation
Frameshift Each base shifts left or right one
position

Transcription factors move from the

cytoplasm into the nucleus to turn
on/off specific genes

Transcription This is what enables a cell to

become specialised via
transcription of a specific protein
factors

A steroid hormone that can initiate

transcription

What is
oestrogen?

Oestrogen binds to a receptor site

How does oestrogen on the transcriptional factor
It causes it to change shape slightly
initiate This change in shape makes it
complementary and able to bind to
transcription? the DNA to initiate transcription
 A group of simultaneously
controlled genes that are either all

Operon expressed or not

They are much more common in
prokaryotes than eukaryotes

Found in E.Coli
A sequence of three genes that
Lac operon collectively aid with lactose
digestion
LacZ, LacY, LacA

LacI is a regulatory gene found near

the Lac operon
LacI gene This gene codes for a repressor
protein that inhibits transcription
when there is no lactose present.

Cyclic AMP (cAMP) increases the

rate of transcription of the Lac
operon

CyclicAMP In order for sufficient enzymes to be

produced by LacZ, LacY and LacA,
the cAMP receptor protein (CRP)
must bind
CRP can only bind and increase the
transcription rate once bound to
cAMP
 The heritable change in gene
function
Without changing the DNA base

Epigenetics sequence
Caused by changes in the
environment
Can inhibit transcription

Factors such as diet, stress and

Chemical tags
toxins can add epigenetic chemical
tags to the DNA
This can control gene expression in
eukaryotes

The epigenome is a single layer of

chemical tags on the DNA

Epigenome This impacts the shape of the DNA-

histone complex and determines
whether the DNA is tightly wound
(won't be expressed) or unwound
(will be expressed)

Increased methylation of DNA

inhibits transcription
When methyl groups are added to
Methylation of DNA, they attach to the cytosine
base

DNA This prevents transcriptional

factors from binding and attracts
proteins that condense the DNA-
histone complex
 Decreased acetylation of histone
proteins inhibits transcription
Removing acetyl groups from DNA
Acetylation of makes the histones more positive
The histones attract the negative

histones phosphate group on the DNA more

strongly as a result
The DNA and histone proteins are
strongly associated and so, it is
harder for transcription factors to
bind

A newly synthesised strand of

mRNA before modification

Pre-mRNA To modify this molecule, introns are

removed and protective caps are
added

Sequences of genes which create

proteins that regulate the
expression of other genes that are
Homeobox involved in the formation of the
body in the early stages of

genes development as an embryo

These homeobox gene sequences
are highly conserved (very similar)
in plants, animals and fungi

A type of homeobox gene found in

Hox genes animals
These genes are responsible for the
correct body development and
positioning of body parts
 Programmed cell death
Apoptosis

Tumour
suppressor Genes that produce proteins to slow
down cell division cause cell death
if DNA copying errors are detected
genes

Genotype The genetic constitution of an

organism (the alleles an organism
has for a gene)

The expression of the genes and

Phenotype their interaction with the
environment
 A pair of homologous chromosomes
Homozygous carrying the same alleles for a
single gene

Heterozygous A pair of homologous

chromosomes carrying two
different alleles for a single gene

Recessive An allele only expressed if no

dominant allele is present
allele

Dominant An allele that will always be

expressed in the phenotype
allele
 Both alleles are equally dominant
Codominant and expressed in the phenotype

Multiple More than two alleles for a single

gene
alleles For example, human blood groups

Sex linkage A gene whose locus is on the X

chromosome
For example, colour blindness

Autosomal Genes that are located on the same

chromosome (not the sex-

linkage chromosomes)
 When one gene modifies or masks

Epistasis the expression of a different gene at

a different locus

Genotype
The genetic constitution (the alleles
they have for a gene)

The observable characteristics

Phenotype determined by both the genotype
and environmental contributions

Inheritance
coding
systems
 This type of inheritance only
Monohybrid involves one gene
A common example of this is cystic

inheritance fibrosis, which is caused by a

recessive allele of one gene

Parents' genotypes
Gametes
Offspring genotype
What should you Offspring phenotypes

include in a genetic Probability of the offspring having

the condition/feature

cross?

This is when the inheritance of two

genes is predicted
This often links to Mendel's work on

Dihybrid pea plants

inheritance

The chi-squared statistic can be

Chi-squared used to see if the ratio you expected
was significantly different to the

statistic
ratio you observed
 A mathematical model used to
predict the allele frequencies within
a population
Hardy-Weinberg It assumes there will be no change
in the allele frequency between

principle generations within a population

(e.g. no deaths, births or migration),
so it is not accurate

p 2 + 2pq + q 2 = 1 p+q=1

p = frequency of the dominant allele

Hardy-Weinberg q = frequency of the recessive allele

p2 = frequency of the homozygous
dominant genotype
components of 2pq = frequency of the heterozygous
genotype
the equation q2 = frequency of the homozygous
recessive genotype

A characteristic with continuous

values
Continuous It is caused by genetics and the
environment

variation Many genes are involved

(polygenic)
For example, the mass and height
of organisms

A characteristic with categorical

Discontinuous (discrete) values
It is caused by genetics

variation
One or two genes are involved
For example, blood group
 When the middle (median) trait has
a selective advantage and therefore
continues to be the most frequent

Stabilising in the population

The range decreases as the extreme
traits are lost over time
selection For example, human birth weights

When one of the extreme traits has

a selective advantage
Occurs when there is a change in

Directional the environment

The modal trait changes
For example, antibiotic resistance

selection

Middling birth weight provides a

selective advantage
Selection in human Low birth weights may be
disadvantageous to survival due to
birth weights underdevelopment of the baby
High birth weights may lead to
complications during the birth

A random mutation creates an

Selection in
allele that provides resistance to
antibiotics in bacteria
If this population of bacteria are
antibiotic then exposed to this antibiotic, only
those with the resistance allele

resistance survive and all others die

This allele is then passed on over
many generations and results in
most of the bacteria carrying this
allele
 This is the change in the allele
frequency within a population
between generations

Genetic drift There will always be genetic drift

from one generation to the next
Continual, substantial genetic drift
results in evolution

Caused by events that kill almost

all of the population, leaving only a
few individuals left. This results in

Genetic
a very small gene pool
This results in a lack of genetic
diversity

bottleneck

When a few individuals from an

existing population relocate to an
isolated area
This results in a small population

Founder effect breeding together and therefore a

small gene pool

When individuals which contain the

alleles coding for either extreme
trait are more likely to survive and
Disruptive pass on their alleles
As a result, the allele frequency

selection
changes as more individuals
possess the alleles for the extreme
traits and the middling trait allele
becomes less frequent
Continued disruptive selection can
ultimately lead to speciation
 Speciation is the process that
results in the creation of new
species
Speciation This occurs when one original
population of the same species
becomes reproductively isolated

Populations can become separated

geographically leading to
reproductive isolation
Allopatric Results in two new species forming

speciation

Populations can become

reproductively isolated due to
differences in their behaviour

Sympatric Individuals of the same species

may not be separated by
geographical barriers, but are still
speciation unable to reproduce
This could be due to a random
mutation that impacts reproductive
behaviour

When humans select plants or

animals with favourable
Artificial characteristics and deliberately
breed these individuals together

selection
This manipulates the gene pool so
that the favourable alleles become
more common and less favourable
alleles become less common
 Gene banks are stores of biological
samples (plant seeds and animal
Gene banks semen or eggs)
They are a means of maintaining
genetic material for use in selective
breeding

Sequencing projects have read the

Sequencing genomes of a wide range of

organisms, like humans
This provides opportunities to
projects screen DNA to identify potential
medical problems

Reverse transcription with reverse

How to create a DNA transcriptase

fragment Restriction endonucleases

Gene machine

Gene machine Creates DNA fragments using a

computerised machine
Automated
 Reverse An enzyme that makes cDNA single-
stranded copies of DNA from mRNA

transcriptase

Enzymes that cut up DNA to create

Restriction fragments
Cut at specific

endonuclease
recognition/restriction sequences
Results in sticky ends

What is gel Separation of DNA samples using

an electrical voltage
electrophoresis? Different lengths of DNA VNTRs are
separated

Why does the DNA DNA is negatively charged and

moves towards the positive end of
move in gel the gel
The shorter the piece of DNA, the
electrophoresis? faster and further it moves
 Identifying the source of an
infection (e.g. MRSA in hospitals)
Identifying antibiotic-resistant
Uses of genome bacteria
Tracking the spread of pathogens to

sequencing monitor potential epidemics and

pandemics
Identifying regions in the genome
for new drugs to target

The creation of artificial pathways,

organisms, devices or the redesign
of natural systems

Synthetic Sequencing the genomes has

enabled the development of
synthetic biology
biology

Genetic engineering: Insulin-

producing bacteria
The use of biological systems in
industry: immobilised enzymes
Developments in The synthesis of new genes to
replace faulty versions of genes:
synthetic biology replacing the faulty gene that
causes cystic fibrosis
The synthesis of new organisms:
new bacterial genomes have been
created by scientists)

Variable number tandem repeats

VNTRs sequences of bases in introns
Unique to each person
 Short, single-stranded pieces of
DNA
DNA probe Labelled radioactively or
fluorescently so that they can be
identified

How is DNA
extracted from cells Cell fractionation and
ultracentrifugation
so it can be
examined?

How can DNA

samples be From blood, body cells or hair
follicles

collected?

Used widely in gene technology to

Uses of PCR make large numbers of copies of

DNA fragments
e.g. forensics, genotyping, cloning,
paternity tests, microarrays
 Increase temperature to 95C to
break hydrogen bonds & split DNA
into single strands

Describe the PCR Temperature decreased to 55C so

primers can attach
DNA polymerase joins
process complementary nucleotides &
makes a new strand
Temperature increased to 72C
(optimum for Taq DNA polymerase)

Manipulating 1. Digestion
2. Separation
3. Hybridisation
genomes 4. Development
5. Analysis

Restriction endonucleases are

added to cut the DNA into smaller
Digestion fragments
Enzymes that cut close to the
target VNTRs are added

DNA samples are loaded into small

wells in agar gel
The gel is placed in a buffer liquid
with an electrical voltage applied
Separation DNA is negatively charged, so the
DNA samples move through the gel
towards the positive end of the gel
This is how the different lengths of
DNA (VNTRs) are separated
An alkali is then added to separate
the double strands of DNA
 DNA probes are short, single-
stranded pieces of DNA
complementary in base sequence to
the VNTRs

Hybridisation The probes are radioactively or

fluorescently labelled
Different DNA probes are mixed
with the single-stranded DNA
VNTRs on the agar gel to allow them
to bind (hybridise)

The agar gel will shrink and crack

as it dries, and therefore the VNTRs
and DNA probes are transferred to a

Development nylon sheet

The nylon sheet can then be
exposed to x-rays to visualise the
position of radioactive gene probes,
or to UV light if fluorescence-
labelled DNA probes were used

The position of the DNA bands is

compared to identify genetic
relationships, the presence of a
disease-causing gene and to match

Analysis unknown samples from a crime

scene

Thermocycler

PCR equipment DNA fragment to be amplified

DNA polymerase – Taq polymerase

list Primers
DNA nucleotides
 A cell that naturally produces the
protein of interest is selected
These cells should have large
amounts of mRNA for the protein
Creating DNA fragments The reverse transcriptase enzyme
from mRNA using reverse joins DNA nucleotides with
complementary bases to the mRNA
transcriptase sequence
cDNA is made
To make this DNA fragment double-
stranded, DNA polymerase is used.

Complementary, single-stranded
cDNA DNA strands
Created by reverse transcriptase

Advantages of using Creates intron-free cDNA

reverse transcription

Advantages of
Very quick
using the gene Accurate
Create intron-free DNA

machine
 Creating DNA fragments using
bacteria
Involves restriction endonulcease
enzymes

In vivo cloning

Using PCR to create a large number

In vitro cloning of copies of a DNA fragment

Enzymes that cut up DNA to create

Restriction fragments
Cut at specific
recognition/restriction sequences
endonuclease Results in sticky ends

Advantages of
Creates sticky ends on DNA to
restriction enable the DNA fragments to join
with complementary base pairs

endonuclease
 Short DNA molecules
Oligonucleotides Used in gene machines to create
DNA fragments

Exposed staggered ends of bases

Palindromic base sequences

Sticky ends Created by restriction endonuclease

enzymes

Sequences of bases that read the

same forwards as they do

Palindromic backwards

sequence

When a restriction endonuclease

cuts the DNA double-strand in the
same position
Blunt end There is no overhang of bases
Protomoter A sequence of DNA bases that is
the binding site for RNA

region polymerase to enable transcription

to occur

Added at the end of the gene

Terminator Causes RNA polymerase to detach

and stop transcription
To ensure one gene is copied into
region mRNA at a time

A small loop of bacterial DNA

Plasmid Contains only a few genes

Contains the genes for antibiotic
resistance

Recombinant A small loop of bacterial DNA

with the DNA from another
organism inserted into it
plasmid
 When an electrical current is
Electroporation applied to the membrane to make it
more porous

The process of getting a plasmid to

re-enter a bacterium
Involves calcium ions and

Transformation temperature shocking

How can Using marker genes

Antibiotic resistance genes
transformed cells be Genes coding for fluorescent
proteins
identified? Genes coding for enzymes

Genes on the plasmid used to

Marker genes identify which bacteria successfully
took up the recombinant plasmid
 This is when a human gene is
inserted into bacteria so that they
Pharming produce a human protein (e.g.
insulin-producing bacteria).

Gene therapy is when human DNA is

Gene therapy altered to treat disorders

Two types:
somatic cell gene therapy
germline gene therapy

Replacing body cells

Somatic cell gene This treatment is not a cure as it

does not replace all the cells in the
body with the faulty gene, it just
therapy supplements them

Germline gene The alteration of the DNA in the

gametes so that the offspring
would not inherit the faulty allele
therapy
 Involves cutting off a non-flowering
stem from the budding plant

Plant cuttings
Dipping it in plant hormones root
powder (to encourage growth) and
fungicide (to prevent infection)
Then growing in soil

Involves taking only a tissue

culture, sterilising the sample (e.g.
with ethanol) and growing with
hormones (auxins and cytokines)
on agar first until roots have
Micropropagation developed
A callus forms and this is split into
cells and transferred to a new agar
plate and eventually, the small
plantlets that form are potted in
soil

Rapid production of plants

Creates disease-free plants

Advantages of Can clone genetically modified

plants
Can clone seedless plants, like
micropropagation seedless varieties of grapes
Produce large numbers of rare or
endangered plants
Can grow plants that do not grow
from seed easily

It is expensive and requires skilled

workers
If the original cells have a viral
Disadvantages of infection, all the plants produced
will have the virus too
micropropagation Monocultures are grown and the
gene pool is reduced, so all the
plants are susceptible to the same
diseases
 Two parents with desired
characteristics are selected
The female is given hormones to
make her produce many eggs

Embryo splitting
Eggs and sperm are used for in vitro
fertilisation
The embryo is split into many
single, identical cells
These cells are then inserted into
the uterus of the mother

A somatic cell is taken from an

animal to be cloned
The nucleus of an egg is removed
Somatic cell The somatic cell nucleus is inserted
into this egg cell

nuclear transfer A small electric current is applied

to make this egg cell divide
The embryo is then separated and
these cells are inserted into a
uterus

Animals with desirable

characteristics will produce more
offspring than with natural
reproduction

Advantages of SCNT enables genetically

engineered embryos to be cloned
Particular animals could be cloned
animal cloning (e.g. family pets or racehorses)
It could be used to increase the
number of rare and endangered
animals

SCNT is not efficient -usually, one

embryo is formed from many eggs
Disadvantages of There is a high miscarriage rate
when implanting embryos from
animal conging SCNT
Animals produced by SCNT often
have a shorter lifespan
 Microbes can also produce toxins if
growing conditions are not carefully
controlled
Disdvantages of Microbes must be grown in aseptic
conditions

microorganisms Some people don’t like the idea of

eating microbes
Microbes have no natural flavour,
so additives have to be used

Working in sterile conditions to

prevent contamination and
infection
Aseptic sterilise equipment to kill
microbes
techniques disinfect work surfaces
wash hands
work near a Bunsen burner
open Petri lid slightly and only
when necessary

Stage 1: Lag phase

Stage 2: Exponential phase
Stage 3: Stationary phase
Stage 4: Death phase
Stages of bacterial
growth

The number of bacteria are lower

Lag phase while the bacteria are adjusting to
the new environment
 Exponential The bacteria are reproducing at
their maximum rate
phase

Stationary The number of bacteria from growth

is equal to the number that dies
This results in a constant
phase population size

The number of bacteria decreases

because the number of deaths
Death phase exceeds the reproductive rate
This could be as toxins buildup or
as resources run out

Manipulating the growing

conditions to remove limiting

How can the death factors

ensure plenty of nutrients are
available and added
phase be increase oxygen available for
aerobic respiration
prevented? maintain temperature
remove toxins
buffer the pH
 Immobilised When the enzyme required is fixed
to an inert substance and the
enzymes substrate is passed over it

Glucose isomerase for the

Uses of conversion of glucose to fructose
Penicillin acylase for the formation
immobilised of semi-synthetic penicillins (to

enzymes in which some penicillin-resistant

organisms are not resistant)

biotechnology Lactase for the hydrolysis of lactose

to glucose and galactose
Aminoacylase for the production of
pure samples of L-amino acids

Enzyme A method of immobilising the

enzyme
entrapment The enzyme is trapped in a matrix

Advantage of enzyme Can be used for many different

processes
entrapment
Disadvantages of Expensive
Can be difficult to entrap in the
enzyme matrix
Can impact the enzyme activity
entrapment Takes time for the substrate to
diffuse through the matrix to the
enzyme

Encapsulating A method of immobilising enzymes

The enzyme is trapped within a

enzymes membrane or capsule

Advantages of
Simple process
encapsulating Little effect on enzyme activity
Can be used for many different
enzymes processes

Disadvantages of
Expensive
encapsulating Can be slower as it takes time for
the substrate to diffuse across the
enzymes membrane to react with the enzyme
 Surface Two methods:

immobilisation of adsorption to inorganic carriers

covalent or ionic bonding to

enzymes inorganic carrier

Advantages of suface Simple

Cheap
immobilisation of Can be used with many different
processes
enzymes via
The enzymes are readily in contact
adsorption with the substrate

Disadvantages of
The enzymes can detach and be lost
suface immobilisation of
enzymes via adsorption

The enzyme is strongly bonded so

Advantages of surface less likely to be lost
The enzymes are readily in contact
immobilisation of
with the substrate
enzymes via bonding pH and substrate concentration will
have little effect on enzyme activity
 Disadvantages of The cost varies- sometimes it is
surface immobilisation of cheap but it can also be expensive
The bonding could change the
enzymes via bonding shape of the active site, reducing
its effectiveness

Population
Group of organisms of the same
species living in the same habitat

Habitat The range of physical, biological

and environmental factors in which
a species can live

Community All the populations of different

species in the same area at the
same time
 A community and the non-living
components of an environment (the
Ecosystem biotic and abiotic factors)
Ecosystems can range in size from
very small to very large

An organism's role within an

ecosystem
Niche their position in the food web and
their habitat

Carrying The maximum population size an

ecosystem can support

capacity

Abiotic factors Non-living conditions of an

ecosystem
 Impact of the interactions between
Biotic factors organisms

1. Nitrogen-fixation

Nitrogen cycle 2. Nitrification

3. Denitrification
4. Ammonification

Nitrogen fixing bacteria break triple

bond between two nitrogen atoms
Nitrogen fixation in nitrogen gas
Fix this nitrogen into ammonium
ions

Ammonium ions in soil are

Nitrification oxidised to nitrite ions

Nitrite ions are oxidised to nitrate
ions
By nitrifying bacteria
 Returns nitrogen in compounds
back into nitrogen gas in the
Denitrification atmosphere
By anaerobic denitrifying bacteria

Proteins/urea/DNA can be
decomposed in dead matter and
Ammonification waste by saprobionts
Return ammonium ions to soil -
saprobiotic nutrition

Fix nitrogen gas into ammonium

ions
Free-living in soil
Nitrogen fixing Or form mutualistic relationship on
root nodules of leguminous plants

bacteria give plants N in exchange for

carbohydrates

Importance of Used to create

nitrogen to amino acids/proteins

DNA
RNA
organisms ATP
 The change in an ecological
community over time

Succession

Plants photosynthesise to fix

carbon from the atmosphere into
carbohydrates which can be

Carbon cycle ingested by animals

When organisms respire,
carbohydrates are converted back
to carbon
Carbon is broken down to carbon
dioxide by decomposers

Primary A succession with a pioneer species

colonising bare rock or sand

succession
The first time the land is colonised

There is a disruption that causes

plants to be destroyed

Secondary Succession starts again, but the

soil is already formed

succession
 Human activities can prevent the
progress of succession

Deflected A climax community won’t be

reached if there are animals
grazing or trampling an area by

succession humans
Controlled burning and removal of
vegetation will also prevent the
formation of a climax community

Estimating
population size

Climax The final seral stage in succession

The most stable stage

community

Temperature

Factors affecting Oxygen

Carbon dioxide concentration

population size Light intensity

pH
Soil conditions
Interspecific Competition between members
of different species

competition

Intraspecific Competition between members of

competition the same species

Abiotic factors become less hostile

What changes would Biodiversity increases
you see in a Becomes more stable

succession?

The interaction between predator

and prey and how this affects their
population sizes
Predator-prey
relationship
 Human actions and management to
help maintain biodiversity
It involves sustainable

Conservation
development, whereby
management of ecosystems is in
place so that natural resources can
be used by humans without them
running out

Preservation involves protecting an

area by banning visitors
Preservation This is a very effective method of
protecting ecosystems, but it
prevents anyone from enjoying the
area.

Social: enjoying the outdoors is

Importance of
beneficial to many individuals
Economic: medicines, foods,
clothes and timber are sources

conservation from natural ecosystems which

would be lost if not conserved
Ethical: all organisms have the
right to live

Using sustainable, renewable

Sustainable resources
Coppicing and pollarding-

management
sustainable timber production
Sustainable fishing