Topic -Gene technology
Definition:
Genetic engineering / genetic modification/ gene editing –The insertion of gene from one organism
into the genetic material of another organism or changing the genetic material of organism
Recombinant DNA –New DNA produced by genetic engineering technology that combines genes from
the DNA of one organism with the DNA of another organism
Reverse transcriptase –An enzyme used to make artificial copies of desired gene by taking an mRNA
molecule transcribed from the gene and using it to produce the correct DNA sequence
Complementary DNA (cDNA) –DNA which can act as an artificial gene made by reversing the
transcription process from mRNA using reverse transcriptase
Sticky end –The name given to the area of base pairs left longer on one strand of DNA than the other by
certain restriction endonucleases, making it easier to attach new pieces of DNA
Replica plating –A process used to identify recombinant cells that involves growing identical patterns of
bacterial colonies on plates with different media
Gene guns –a technique to produce recombinant DNA by shooting the desired DNA into the cell at high
speed on very small gold or tungsten pallets (balls)
Liposome wrapping –A technique for producing recombinant DNA that involves wrapping the gene to
be inserted in lipoproteins, which combine with the target cells membrane and can pass through it to
deliver the DNA into the cytoplasm
Microinjection (DNA injection) –A technique for producing recombinant DNA that involves injecting
DNA into a cell through a very fine micropipette
Knockout organism –An organism with one or more genes silenced (knocked out) so they no longer
work; they are often used the identify the function of a gene, to investigate disease and to test potential
treatments
Genetically Modified Organisms
Genetically Modified Organisms (GMOs) are organisms that have their DNA altered.
Gene technology:
• change in genetic material/DNA in cell
• as a result, product of a cell is changed during protein synthesis
Page -1
Drug Production from Genetically Modified Organisms
• Genetic engineering is a technique used to deliberately modify a specific characteristic of an
organism
o The technique involves removing a gene that codes for a desired characteristic from
one organism and transferring the gene into another organism where the desired gene
is then expressed
• The genetically engineered organism is said to contain recombinant DNA and will be a
genetically modified organism (GMO)
• Micro-organisms, plants, and animals have been genetically engineered to produce proteins
used in medicine
Genetically modified microorganisms
Definition:
Growth hormone –The growth hormones are secreted by the pituitary gland which stimulates growth.
Somatotrophin –It is another name of growth hormone
Transgenic plants –plants which have been genetically modified to produce proteins from another
organism
Transgenic animals –animals which have been genetically modified to produce proteins from another
organism, often a human being
Genetic Engineering: Enzymes
• In order to genetically engineer an organism, there are a number of enzymes required:
o Restriction endonucleases (enzymes) – cuts the DNA strands so that the desired gene
can be isolated or spliced (inserted) into a vector
o Reverse transcriptase – reverses transcription to produce a single-strand
complementary DNA (cDNA) from an mRNA strand with the code for the desired gene
o DNA polymerase – used to convert the single-stranded cDNA into a double-stranded
DNA molecule of the desired gene
o DNA ligase – is used to splice (insert) the gene into the vector
Page -2
Restriction endonucleases:
• The role of restriction endonucleases (or restriction enzymes) in the transfer of a gene into an
organism is to:
o Isolate the desired gene
o Separate the DNA strands (at the same base sequence) in a vector so the desired gene
can be inserted
• There are many different restriction endonucleases because they bind to a specific restriction
site (specific sequences of bases) on DNA, eg. HindIII will always bind to the base sequence
AAGCTT
• Restriction endonucleases will separate the two strands of DNA at the specific base sequence
by ‘cutting’ the sugar-phosphate backbone in an uneven way to give sticky ends or straight
across to give blunt ends
• Sticky ends result in one strand of the DNA fragment being longer than the other strand
Reverse transcriptase:
• The role of reverse transcriptase in the transfer of a gene into an organism is to produce
a single-strand complementary DNA molecule (cDNA) that contains the code for the desired
characteristic, this will then be inserted into a vector (after being converted into a double-
stranded DNA molecule)
• Reverse transcriptase enzymes are sourced from retroviruses, and they catalyse the reaction
that reverses transcription. The mRNA (with the genetic code for the desired gene) is used as a
template to synthesise a single strand of complementary DNA (cDNA)
• Reverse transcriptase enzymes are often used as it is easier for scientists to find mRNA with the
specific characteristic because specialized cells make very specific types of mRNA (eg. β-cells of
the pancreas produce many insulins mRNA) and mRNA does not contain introns
DNA polymerase:
• DNA polymerase is used to convert the single strand of cDNA into a double-stranded DNA
molecule which contains the desired code for the gene
• The enzyme builds the second strand by pairing free nucleotides with the complementary
bases on the cDNA strand
DNA ligase:
• DNA ligase catalyses the formation of phosphodiester bonds in the DNA sugar-phosphate
backbone
• This enzyme enables the isolated desired gene to be spliced into a vector (generally a plasmid)
so that it can be transferred to the new organism
Page -3
Microorganisms and genetic modification –Microorganisms are commonly used in genetic modification
for several reasons:
• They are relatively easy and cheap to culture because they reproduce rapidly
• A transferred gene copied very rapidly when the microorganisms are allowed to replicate in
ideal conditions
Genetically modified micro-organisms
Fig. The human insulin gene can be inserted into bacterial plasmid vectors which are then transferred
into bacterial cells
• Restriction enzymes are used to remove the gene coding for a desired protein from an
organism's genome
o The protein coded for here will be responsible for the characteristic desired in the GMO
e.g. the ability to produce insulin
• Many copies of the gene are made using the polymerase chain reaction, or PCR
o The enzyme DNA polymerase is used to join free nucleotides into new strands of DNA
that are complementary to the original strand
• These copies are inserted into small loops of DNA called plasmids, which then transfer the
copies into micro-organisms
o The plasmids are said to be DNA vectors
o The enzyme DNA ligase catalyses the joining of the desired gene to the plasmid vector
• The genetically modified micro-organisms are grown in large fermenters containing nutrients,
enabling them to multiply and produce large quantities of the new protein
• The protein can be isolated and purified before being packaged and distributed
o Human insulin and human blood clotting factors are examples of medicinal proteins
produced by genetically modified bacteria
Recombinant DNA
Fig. Transferring genes from bacteria into the DNA of maize plants creates recombinant DNA
• The genetic code is the basis for storing instructions that, alongside environmental influences,
dictate the characteristics of organisms
• The genetic code is universal, meaning that almost every organism uses the same four
nitrogenous bases A, T, C, and G
• Scientists can artificially change an organism's DNA by combining lengths of nucleotides from
different sources: typically, the nucleotides are from different species
• The altered DNA, with the introduced nucleotides, is called recombinant DNA
• If an organism contains nucleotide sequences from a different species, it is known as
a transgenic organism or a genetically modified organism (GMO)
Page -5
• Producing a transgenic organism involves the following process
o Identification of the desired gene
▪ This gene will code for a desired characteristic, e.g.
▪ Pest resistance genes in crops
▪ The human insulin gene
o Isolation of the desired gene by, e.g.
▪ Using an enzyme called reverse transcriptase to convert a desired length of
mRNA back into DNA; DNA produced in this way is known as complementary
DNA, or cDNA
▪ Cutting the gene from its location on a chromosome using enzymes called
restriction endonucleases
▪ Designing and building synthetic DNA sequences in a lab
o Multiplication of the gene, i.e. producing many copies, or clones; this can be carried out
using the polymerase chain reaction (PCR)
▪ PCR machines known as thermocyclers use free nucleotides, DNA polymerase,
and DNA primers to produce many identical copies of a desired gene
o Transfer of the desired gene into another organism's DNA using a vector, e. g. DNA
plasmids, viruses, or fatty envelopes known as liposomes
▪ Once another organism has taken up the vector it is said to be transformed
o Identification of the cells that contain the new gene by using a marker gene alongside
the desired gene; this means that any cells that take up the desired gene will take up the
marker gene as well e.g.
▪ Antibiotic resistance: transformed cells will survive if treated with a specific
antibiotic
▪ Fluorescence: transformed bacterial cells will fluoresce under UV light
• Once the transformed cells have been identified they can be cloned, ensuring that all new cells
contain copies of the desired gene
o In the case of bacteria this can be carried out in a large container known as a fermenter
Page -7
Isolating the desired gene using restriction endonucleases
• Restriction endonucleases are enzymes that cut DNA
o They are sometimes referred to as restriction enzymes
• There are many different restriction endonucleases, each of which binds to a specific sequence
of bases known as a restriction site on DNA, e.g. the restriction endonuclease HindIII will always
bind to the base sequence AAGCTT
• Restriction endonucleases separate DNA at restriction sites by cutting the sugar-phosphate
backbone in an uneven way; this leaves exposed single-stranded sequences of bases known as
'sticky ends'
• The sticky ends make it easier to insert the desired gene into another organism's DNA or into
vector DNA as they can easily form hydrogen bonds with complementary base sequences that
have been cut with the same restriction endonucleases
Page -8
Inserting the desired gene into a vector using DNA ligase
Fig. DNA ligase is used to join the isolated gene to the vector DNA
• Once the desired gene has been cut from DNA using the relevant restriction endonuclease, it
can then be transferred into the DNA of a vector, e.g.
o A DNA plasmid
o A vector organism such as a virus or bacterium
• The DNA of the vector will be cut using the same restriction endonuclease as the desired gene,
leaving complementary sticky ends
• The enzyme DNA ligase is used to catalyse the formation of phosphodiester bonds between the
sugar-phosphate backbone of the desired gene and that of the vector DNA
o If this is carried out using a plasmid, the plasmid will be known as a recombinant
plasmid
Transfer of Recombinant DNA into Other Cells
• Sections of DNA can be transferred from one organism's DNA to that of another, creating
recombinant DNA
• To create recombinant DNA, desired genes, such as the gene for human insulin, need to
be transferred into new types of cells; there are several different ways of doing this, e.g.
o Vectors, e.g.
▪ DNA plasmids
▪ Viruses
▪ Liposomes
o Gene guns
o Microinjection
• Once a section of DNA has been transferred into a new cell it needs to be incorporated into the
cell's genetic material to be transcribed and translated; the success rate for transferred genes
entering the nucleus of a eukaryotic cell is currently very low
o The problem of transferred genes not reaching the nucleus is a barrier to the success
of gene therapy
▪ Gene therapy is a medical technique that involves inserting non-mutated genes
into the cells of individuals with genetic disorders
Criteria of an Ideal Vector:
• The vector should be small and easy to isolate.
• They must have one or more origins of replication so that they will stably maintain themselves
within host cell.
• Vector should have one or more unique restriction sites into which the recombinant DNA can be
inserted.
• They should have a selectable marker (antibiotic resistance gene) which allows recognition of
transformants.
• Vector DNA can be introduced into a cell.
• The vector should not be toxic to host cell.
Application of plasmids:
They are very important tool in recombinant DNA technology or Genetic Engineering. Some of their uses
include:
• Production of useful substances (hormones, enzymes, antigens for vaccine etc.)
• Vector for gene replacement or regulation in mammalian tissues.
• Identification of gene sequences important to virulence properties.
• Identification of sequences is important to gene expression and function.
• Plasmid profiling is used for epidemiological typing of bacterial strains.
Page -10
Plasmids as vectors in gene cloning:
Plasmids are small, circular pieces of double-stranded DNA
• It is small --> easy to use
• It exists naturally in bacteria --> bacteria take up plasmids from surroundings
• It can be produced artificially
• It is double stranded: can insert genes from prokaryotes and eukaryotes
• It can be replicated independently in bacteria
• It can be transferred between different bacterial species
• It can be readily isolated from the cells.
• It possesses a single restriction site for one or more restriction enzymes.
• Insertion of foreign DNA does not alter the replication properties.
• Selective marker is present.
• Transformants can be selected easily by using selective medium.
Viral vectors
Fig. Viral vectors can be used to insert genes into human cells
• Viruses reproduce by inserting their DNA into the cells of other organisms, making them ideal
vectors for the process of creating transformed cells
• Viruses exist that infect animal cells, plant cells, and bacterial cells, so viral vectors can be used
to transform many cell types
• Viruses used as vectors need to be non-harmful to the cells being transformed
• Viruses are useful for ensuring that transferred DNA reaches the nucleus of cells, but despite
being harmless they can sometimes initiate an immune response
• Viruses can be used as vectors in the process of gene therapy, which can be used to treat
genetic diseases such as cystic fibrosis in humans
Liposome vectors
Fig. Liposomes can enter cells by fusing with the cell surface membrane. Note that you do not need to
know the term endosymbiosis here
• Liposomes are small, spherical vesicles, surrounded by a phospholipid bilayer
• Liposomes can be used as vectors because they can fuse with the cell surface membranes of
host cells
• These vesicles can also be used in gene therapy to carry non-mutated genes into host cells
Gene guns
• The fragments of DNA containing the desired gene can be used to coat tiny pellets of gold or
tungsten which are then fired at high speed into the cells that are to be transformed
• Cells that avoid damage can incorporate the new DNA into their genome
Microinjection
• A fine glass micropipette is used to transfer DNA into a cell
• This is a common laboratory technique for transferring genetic material into animal cells for the
creation of transgenic animals
Genetic Engineering: Promoter
• The promoter (an example of a length of non-coding DNA that has a specific function) is
the region of DNA that determines which gene will be expressed. This is because it is the site
where RNA polymerase binds to begin transcription
• The promoter also ensures that RNA polymerase can recognise which is the DNA template
strand. RNA polymerase recognises the template strand as the promoter contains the
transcription start point (the first nucleotide of the gene to be transcribed) which is where the
enzyme will bind
Page -12
Fig. Promoters are included in plasmids that have been genetically engineered to produce human insulin
Page -13
• Thus, the promoter is used to regulate gene expression because only if it is present will
transcription and therefore the expression of the gene occur
• If genetic engineers want to ensure the desired gene is expressed when modifying the plasmid,
they have to add an appropriate promoter
• As with eukaryotic cells bacteria have many different genes coding for many different proteins
although not all genes are switched on at once. Bacteria will only express genes (to make
proteins) if the growing conditions require a certain protein (e.g. coli bacteria only make β-
galactosidase enzymes when their growing medium contains lactose but lacks glucose)
• Scientists used this knowledge when first genetically engineering bacteria to produce insulin. In
this case they added the insulin gene along with the β-galactosidase gene to share a promoter
(which switched on the gene when the bacteria needed to metabolise lactose)
o So, when the scientists grew the bacteria in a medium containing lactose but no glucose,
the bacteria produced the β-galactosidase and human insulin
Genetic Engineering: Marker Genes:
• A marker is a gene that is transferred with the desired gene to enable scientists
to identify which cells have been successfully altered and now contain recombinant DNA
• Antibiotic-resistant genes were once commonly used as marker genes. Scientists genetically
modified the bacteria so that the plasmid contained the desired gene along with a specific
antibiotic-resistant gene (and promoter) and then grew the bacteria on agar plates embedded
with that antibiotic. The bacteria that contained the recombinant plasmids could be identified as
these were the bacteria that grew
• Using antibiotic-resistant genes as marker genes concerns scientists as:
o There is a risk that the antibiotic-resistant genes could be accidentally transferred to
other bacteria including pathogenic strains creating pathogenic antibiotic-resistant
bacteria
o If the resistance spread to other bacteria this could make antibiotics less effective
• The spread of the antibiotic-resistant genes can occur due to the conjugation (the transfer of
genetic material from one bacterium to another) or due to transduction (the transfer of genetic
material from one bacterium to another via a virus)
• So, genes that express proteins that are fluorescent are now commonly used as markers
• The fluorescence is due to the presence of a green fluorescent protein (GFP)
• The GFP gene along with the desired gene are linked to a specific promoter and once this
promoter is activated, and the protein is expressed, the recombinant bacteria are detected
when they glow green under exposure to ultraviolet light
Page -16
Fig. Green fluorescent protein (GFP) and antibiotic resistant genes are used to determine if an organism
has been genetically modified
• The use of fluorescent genes as markers is preferable because:
o They are easier to identify (all that is required is the ultraviolet light)
o More economical (do not need to grow the bacteria on plates of agar infused with
antibiotics)
o No risk of antibiotic resistance being passed onto other bacteria
o There are antibiotics that are no longer effective and therefore would not stop any
bacteria from growing
Process of genetic engineering using microorganism
1. Here’s how microorganisms are genetically engineered to produce drugs:
• The gene for the protein (drug) is isolated using enzymes called restriction enzymes.
• The gene is copied using PCR.
• Copies are inserted into plasmids (small circular molecules of DNA).
• The plasmids are transferred into microorganisms.
• The modified microorganisms are grown in large containers so that they divide and produce
lots of the useful protein, from the inserted gene.
• The protein can then be purified and used as a drug.
2. Lots of drugs are produced from genetically modified bacteria, for example human insulin
(used in the type 1 diabetes) and human blood clotting factors (used to treat haemophilia)
Page -16
Process of obtaining gene coding for human insulin inserted into a plasmid vector:
• obtain mRNA from β cells of islets of Langerhans of pancreas
• reverse transcriptase is used to make cDNA using mRNA
• single-stranded cDNA is used to make cDNA double strand using DNA polymerase
• sticky ends of cDNA are created by cutting it using restriction enzyme
• obtain plasmids and cut with restriction endonuclease to form complementary sticky ends
• DNA ligase joins sugar phosphate backbone between gene (cDNA) and vector (plasmid) to form
recombinant DNA
• Insert the recombinant DNA into bacteria
• Identify the modified bacteria
• growth/culture of engineered bacteria in fermenters
Advantages of treating diabetics with human insulin produced by genetic engineering:
• constant/reliable supply all year round/unlimited supply
• less risk of contamination/infection
• identical to insulin produced in the body
• less/no risk of allergic reaction
• it does not stimulate the immune system
• fewer side effects
Page -17
• can be produced without the killing of animals/ethical reason
• cheaper/easier to extract and purify
• more available/large amount
• more rapid response
Genetically modified plants:
Introducing genes from one type of plant into another, or even from an animal into a plant, is usually
achieved using the bacterium.
1. Here’s how plants are genetically engineered produce drugs:
• The gene for the protein (drug) is inserted into a bacterium.
• The bacterium infects a plant cell.
• The bacterium inserts the gene into the plant cell DNA –the plant cell is now genetically
modified.
• The plant cell is grown into an adult plant –the whole plant contains a copy of the gene in every
cell.
• The protein produced from the gene can be purified from the plant tissues, or the protein
(drug) could be delivered by eating the plant.
• Each cell of the plant contains a copy of the gene coding for the desired protein
• The protein can now be purified from the plant tissues, or the plant can be eaten to deliver the
drug
Page -18
2. Some drugs have been produced from genetically modified plants, for example human insulin
and a cholera vaccine.
Vitamin A content in rice can be enhanced by genetic modification:
• vitamin A is found in aleurone layer of rice seeds
• white rice does not contain aleurone layer / vitamin A / carotenoids / β carotene
• genes coding for vitamin A production are extracted from bacteria / Erwinia uredovora /
Pantoea ananatis and daffodils / maize
• desired gene is inserted into plasmids and used as a vector
• promoters are added
• plasmids put into Agrobacterium tumefaciens
• Agrobacterium tumefaciens mixed with rice embryos
• some embryos take up bacteria and vitamin A gene using gene gun and grown into adult plants
• vitamin A is produced in endosperm of seed
Genetic engineering could be used to produce rice that contains β‑carotene by the following ways:
• identify and isolate gene involved in making beta-carotene in bacteria
• cut DNA sequence / extract beta carotene gene using restriction endonuclease /enzyme
• insert beta carotene gene into vector e.g., plasmid, liposomes, heat shock, gene gun.
Microinjection
• grow rice and select for modified rice plants with high yields of beta carotene
Tomato plants could be genetically modified to make the enzyme that converts tyrosine to L‑dopa by
the following ways:
• the gene / CYP76 that converts tyrosine to L dopa is extracted / isolated by restriction
endonuclease
• use the same endonuclease / restriction enzyme to cut genetic material of plasmid and isolated
gene
• insertion of vector into a tomato/host cell e.g. use of gene gun /heat shock/ liposomes / CRISPR
Advantages of producing GM rice containing vitamin A (short-cut way):
• It reduces deficiency disease
• better quality food can be obtained
• it assists developing nations by providing food
• cheap seed e.g. golden rice can be obtained
Page -19
Disadvantages of genetically modified plants (short-cut way):
• GM seed could be difficult for farmers in developing countries to obtain
• high cost of buying GM seed and farmer cannot use own seed
• too much power held by multinational companies
• it may not grow well in all conditions as other traits not selected for
• possible allergic reactions in humans / toxicity of more herbicides left after use and adverse
effects on the immune system
• under-developed countries becoming more dependent on other countries
• cross-pollination with wild plants / organic crops and become resistant to herbicides
• new more resistant weeds / “superweeds” may be formed
• loss of traditional varieties
• it changes ecosystem e.g. hybridization
• loss of genetic diversity
• it may harm to other species, e.g. effect on rest of food chain
• GM plant varieties may be genetically unstable
• no long-term studies done on effects on human health
• reduction in biodiversity/outcompetes natural variety or species
Genetically modified animals:
‘Transgenic’ organisms have genetic material introduced artificially from another organism. Actually,
manipulating genes in eukaryotes is a more difficult process than in prokaryotes. The reasons for this
include:
• Plasmids, the most useful vehicle for moving genes, do not occur in eukaryote (except in yeast)
and, if introduced, may not survive, and be replicated there.
• Eukaryotes are diploid organisms, so two forms (allele) for every gene must be engineered into
the nucleus –prokaryotes have a single, circular ‘chromosome’ so only one copy of a gene must
be engineered into the chromosome
• Transcription of eukaryotes DNA to mRNA is more complex than in prokaryotes, where it
involves removal of short lengths of ‘non-informative’, DNA sequences –the intron.
• Machinery for triggering gene expression in bacteria is known –in eukaryotes the machinery is
more complex and is only partially understood.
1. Here’s how animals are genetically engineered to produce drugs:
• The gene for the protein (drug) is injected into the nucleus of a fertilized animal egg cell.
• The egg cell is then implanted into an adult animal –it grows into a whole animal that contains
a copy of the gene in every cell.
• The protein produced from the gene is normally purified from the milk of the animal.
2. Various animals have been modified with human gene to produce drugs, for example human
antithrombin used to treat people with a blood clotting disorder has been produced from
genetically modified goats.
Examples of drugs from transgenic animals –More than 20 different proteins have been produced so
far from transgenic animals, and some of them are already in therapeutic use or are being trialed.
• Factor VII and factor IX are both important components of the human blood clotting cascade
which can be missing in haemophilia and other blood clotting diseases. These factors are being
harvested from transgenic milk.
• Alpha -1-antitrypsin is the protein produced by Tracey. The milk of such transgenic sheep
contains up to 35g of human protein in every liter, a very high yield.
• Activated protein C for treating deep vein thrombosis and modified milk for people with lactose
and other intolerances are also being tested.
Rejection does not occur in genetically modified product because:
• genetically modified organism such as yeast cells have human gene / allele /DNA
• new gene is recognised as ‘self’ e.g. has no non-self-antigens
• it does not trigger immune response
Transcription factors:
• it is a protein / hormone
• it regulates / switch on / activates / binds to promoter region of a gene / allele / mRNA synthesis
Risk factors associated with the genetically modified organisms:
• gene is transfer to other species and the species may be resistance to pesticide / antibiotics,
superweeds
• it causes the possible harmful effects from genes e.g. biochemical changes to substances that
could act as allergens, long term effects of consuming
• benefit is focused on developed countries / converse
• risk is related to use of viral vectors
• it effects on organic farmers
Microarrays and bioinformatics
Definition:
Microarray –A very useful laboratory tool which allows scientists to detect thousands of active genes at
the same time
Hybridization –The process by which labeled DNA samples bind to the matching DNA probe on a
microarray slide
Bioinformatics –The development of the software and computing tools needed to organize and analyze
large amount of raw biological data (e.g. the result from microarray analysis of DNA)
Identification of Active Genes
• Microarrays are laboratory tools used to identify active genes
o Active genes are genes that are expressed; mRNA is transcribed from them, and the
resulting mRNA strand is translated into a polypeptide
• Microarrays can be used to identify active genes in thousands of gene samples at a time
• Microarrays are used for
o Medical diagnosis and treatment, e.g. identification of harmful mutations
o Biotechnology, e.g. identifying genes for the process of producing recombinant DNA
o Forensic analysis, e.g. in criminal investigations
• A microarray consists of a small piece of glass, plastic or silicon that has DNA probes attached to
many spots, called gene spots, in a grid pattern
o DNA probes are short, single stranded lengths of DNA linked to an easily identifiable
label such as a fluorescence protein or a radioactive tag; these single stranded
probes bind to any complementary sequences present in a DNA sample, indicating their
presence by fluorescing or under an x-ray
o There can be 10 000 or more spots per cm2
• When producing a microarray, scientists compare experimental samples of genetic material with
a known reference sample, e.g. a genetic sample taken from an individual known to have a
particular disease mutation
Bioinformatics
Fig. Bioinformatics enables the effective storage and analysis of biological data. Note that you do not
need to know about BLAST analysis
• New DNA technologies such as microarrays and sequencing generate enormous quantities of
data, e.g.
o Genome sequences
o Information on gene expression
o The amino acid sequence and functions of proteins
• To analyse all of this data scientists use bioinformatics
• Bioinformatics is an interdisciplinary science that incorporates biology with computer
technology and statistics to collect, organise, store, and analyse biological data
• Large databases are created containing information such as gene sequences and amino acid
sequences of proteins
o The databases are available online and can perform analysis of the data selected
o Multiple scientific research groups around the world can contribute to central
databases; other groups can then analyse the research and raise queries
• There are several different applications of bioinformatics, e.g.
o Gene function can be studied and compared across different species
o The DNA sequences of different species can be compared, and evolutionary
relationships can be established
o New drug candidates can be identified quickly by scanning libraries of molecules
o Drug candidates can be tested safely; the impacts of different molecules on cells can
be simulated using computer models
o Data from microarrays and gene sequencing can be analysed to develop personalised
medical treatments for individuals
o New types of genetic testing can be developed to enable identification of genetic
disease
o Desired genes for the production of recombinant DNA can be identified, as well as
determining where it is best to insert new desired genes into the genome of a
genetically modified organism
▪ This is useful for the development of new gene therapies
Page -23
