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8-copy/
 change in base sequence of
DNA
Gene mutation occurs during DNA replication
includes addition, deletion,
substitution, inversion,
duplication and translocation
of bases

chemical or radiation that

Mutagenic
increases mutation rate

agents

One extra base is added to the

Addition DNA sequence

causes all subsequent codons
to be altered (frameshift)
mutation

Deletion One base is deleted in the DNA

sequence.
causes all subsequent codons
mutation to be altered (frameshift)
 One base in the DNA sequence

Substitution is changed
no frameshift

mutation only one codon changes

may have no impact due to
degenerate genetic code

Frameshift A change in all the codons after

the point of mutation
each base shifts left or right one
position

A section of bases detach from

Inversion the DNA sequence and re-join
inverted

mutation results in different amino acids

being coded for in this region

Duplication One base is duplicated at least

once in the sequence

mutation
causes a frameshift to the right
Translocation of
A section of bases on one
bases chromosome detaches and
attaches to a different

mutation chromosome

a protein with a different

Non-functioning primary and tertiary structure
therefore the shape is changed

protein it cannot carry out its function

a mass of cells as a result of

Tumour uncontrolled cell division
can be benign or malignant

non-cancerous tumour
grows large but at a slow rate
Benign produce adhesive and are
surrounded by a capsule so they

tumour cannot spread

 cancerous tumour
grows rapidly
can become unspecialised
Malignant can metastasise
grow projections

tumour develop own blood supply

Cancer Malignant tumours that form

due to uncontrolled cell division

cancer cells breaking off from the

Metastasis
tumour
spreading to form secondary
tumours in different tissues or
organs

a mutated version of a proto-

oncogene
Oncogene results in constant initiation of
DNA replication and mitotic cell
division
causes tumour formation
 Tumour genes that produce proteins to
slow down cell division and
suppressor genes cause cell death if DNA copying
errors are detected

the heritable change in gene

Epigenetics function
without changing the DNA base
sequence
caused by changes in the
environment
can inhibit transcription

an increased number of methyl

Hypermethylation groups attached to a gene
results in the gene being
deactivated
results in cancer if happens to a
tumour suppressor gene

inhibits transcription
methyl groups attach to the
Methylation cytosine base on DNA
prevents transcriptional factors

of DNA from binding

condenses the DNA-histone
complex
 Oestrogen is a steroid hormone
it binds to a receptor site on a
How can oestrogen transcriptional factor
causing a change in shape
increase the risk of so it can bind to the DNA to
initiate transcription
breast cancer? can result in uncontrolled cell
division

undifferentiated cells that can

Stem cell continually divide and become

specialised

Totipotent can differentiate into any body

cell
occur for a limited time in early
stem cell mammalian embryos

Pluripotent can differentiate into almost

any body cell

stem cell occur in embryos

 Multipotent can differentiate into a limited
number of cells
stem cell found in mature mammals e.g
in bone marrow

can differentiate into one type

Unipotent of cell
found in mature mammals

stem cell

Induced produced from adult somatic

cells
using protein transcriptional
pluripotent factors
overcomes ethical issues of

stem cell using embryonic stem cells

proteins that can bind to

different base sequences on
DNA
Transcriptional initiate transcription of genes

factor
 a DNA molecule used as a
What is a vector? vehicle to carry a DNA fragment
e.g. plasmids/viruses

Decreased acetylation inhibits

transcription

Acetylation of removing acetyl groups makes

the histones more positive
this attracts the negative
histones phosphate group on DNA
making it harder for the
transcriptional factors to bind

RNA inhibition of the translation of

mRNA

interference the mRNA gets destroyed so it

cannot be translated

small interfering RNA

siRNA destroys mRNA molecules to

prevent translation
 Recombinant combining different organisms’
DNA

DNA technology enable scientists to manipulate

and alter genes to improve
industrial processes and
medical treatment

Reading the full genome of

Sequencing organisms
provides opportunities to

projects screen DNA to identify potential

medical problems

How can you Reverse transcription with

reverse transcriptase
create a DNA restriction endonucleases
gene machine
fragment?

Gene machine creates DNA fragments using a

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

Restriction Enzymes that cut up DNA to

create fragments

endonulceases cut at specific

recognition/restriction
sequences
results in sticky ends

Creating DNA fragments using

bacteria
involves restriction

In vivo cloning endonulcease enzymes

In vitro cloning Using PCR to create a large

number of copies of a DNA
fragment
 Used widely in gene technology
to make large numbers of
copies of DNA fragments
Uses of PCR 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 is 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)

Forensic science
Uses of genetic medical diagnosis
plant/animal breeding
fingerprinting paternity tests

What is gel Separation of DNA samples

using an electrical voltage

electrophoresis different lengths of DNA VNTRs

are separated
 Why does the DNA is negatively charged and
moves towards the positive end
DNA move in gel of the gel
the shorter the piece of DNA, the
electrophoresis? faster and further it moves

Testing DNA to identify the

What is genetic presence of alleles that can
cause/increase the risk of

screening? developing a disease

What is genetic a type of social work giving

people advice and information
following the screening of
counselling? disease causing alleles

Complementary, single-
What is cDNA? stranded DNA strands
created by reverse transcriptase
 What are the
advantages of Very quick
accurate
using the gene create intron-free DNA

machine?

What are the

advantages of using Creates intron-free cDNA
reverse
transcription?

What are the

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

endonculeases?

Oligonucleotides Short DNA molecules

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
backwards

Palindromic
sequence

When a restriction
endonuclease cuts the DNA
double-strand in the same
Blunt end position
there is no overhang of bases

What are the two

In vivo
methods to amplify in vitro (PCR)

DNA?
 a sequence of DNA that is the
Promoter region binding site for RNA polymerase
to enable transcription to occur

added at the end of the gene

Terminator it causes RNA polymerase to
detach and stop transcription

region to ensure one gene is copied

into mRNA at a time

Plasmid a small loop of bacterial DNA

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
 the process of getting a plasmid
to re-enter a bacterium
involves calcium ions and
temperature shocking

Transformation

How can using marker genes

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

genes on the plasmid used to

What is a identify which bacteria
successfully took up the
marker gene? recombinant plasmid

short, single-stranded pieces of

DNA probe
DNA
labelled radioactively or
fluorescently so that they can
be identified
 DNA is heated to separate the

DNA double helix into single strands

it is then mixed with

hybridisation complementary sequences of

single-stranded DNA
it is then cooled so
complementary strands will
anneal

screening for the presence of

Personalised particular alleles
to select medicines and

medicine personalise health advice based

on your genotype

VNTRs variable number tandem

repeats sequences of bases in
introns
unique to each person

How can DNA

samples be From blood, body cells or hair
follicles

collected?
 How is DNA
extracted from cells
cell fractionation and
so that it can be ultracentrifugation

examined?

How is DNA
Restriction endonucleases are
digested in genetic added to cut the DNA into
smaller fragments
fingerprinting? enzymes that cut close to the
target VNTRs are added

Why can the genome not

be easily translated into due to the presence of non-
coding DNA and regulatory
the proteome in complex genes
organisms?

What is the role of

used to stick the DNA fragment
DNA ligase in to create recombinant DNA

making
recombinant DNA?