Inquiry Question 1

Inquiry Question – How does mutation introduce new alleles in a population?

1 – Explain how a range of mutagens operate, including: 

 Electromagnetic radiation sources

 Chemicals
 Naturally occurring mutagens

2 – Compare the causes, processes, and effects of different types of mutations including:

 Point mutation.
 Chromosomal mutation

3 – Distinguish between somatic mutations and germ-line mutations and their effect on an
organism 

4 – Assess the significance of ‘coding’ and ‘non-coding’ DNA segments in the process of
mutation

5 – Investigate the causes of genetic variation relating to the processes of fertilisation,

meiosis and mutation

6 – Evaluate the effects of mutation, gene flow and genetic drift on the gene pool of
populations

Inquiry Question

we will be exploring the importance of mutation in creating new alleles, thus increasing
genetic variation and thus affecting evolution. 

Mutation is the event where there is a permanent change in the DNA structure resulting in
the genetic sequence of a gene (or genes) to be altered.  

By altering the genetic sequence of a gene (thus creating a new allele), the amino acid
sequence of the polypeptide chain to form a protein may be modified. The function and
structure of the protein may be altered so that the protein’s effectiveness to perform its
function is lowered or removed completely. 

 Recall from Module 5 that if you alter the nucleotide sequence of a DNA of a gene, you
will create a new allele. This is because an allele is just an different or alternative
version of the same gene consisting of a different base sequence at the same
chromosome locus (position).
The relevant definition of evolution here is the changes in allele frequencies in populations
over time.

There are two main classes of mutation. These are spontaneous mutation and induced
mutation.

Spontaneous mutation are mutation that occur normally without the effect of an environment
agent (mutagen). So, these will include DNA replication errors during Interphase mitosis and
meiosis that are not corrected by repair enzymes, natural chemical degradation of DNA,
unequal crossing over, etc which we will explore later. 

Spontaneous mutation (as well as induced mutation) is important in introducing and

increasing genetic variation in populations. 

Obviously, this would mean that induced mutation is mutation that is caused an environment
agent which is also known as a mutagen. There are many types of mutagens which we will
explore in the first learning objective. 

Under both spontaneous and induced mutations, there are many types of mutations including
point and chromosomal mutation. Point and chromosomal mutation can occur in somatic or
germ cells. 

The DNA sequence that is altered due to point and chromosomal mutation can be located in
the coding or non-coding regions of DNA. The effect of mutated DNA’s location on the
individual’s genome are different which we will explore. 

We will also explore the effects of mutation, gene glow and genetic drift in affecting the gene
pool of populations’ and thus their effect on evolution as a whole. 

Without further ado, let’s start learning the practical materials!

Explain how a range of mutagens operate, including but not limited to:

- Electromagnetic radiation sources

- Chemicals
- Naturally occurring mutagens

A mutagen is a synthetic or natural agent that cause mutation which greatly enhances
the spontaneous rate of mutation. 

Similarly, a mutant is an organism or cell that is affected by a mutation, usually with an

altered phenotype.

Electromagnetic radiation sources

In Junior science, you would have learnt that there are many types of electromagnetic waves
or radiation in the electromagnetic spectrum. 
Out of these different types of electromagnetic waves, X-rays (X-radiation) and Ultraviolet
radiation are two common examples of electromagnetic radiation to induces mutation as they
have high ionising power.

Electromagnetic radiation or any other forms of high ionising radiation are known
as physical mutagens. 

The relationship between electromagnetic radiation and the rate of mutation is that they
are proportional to each other. As you increase the dose of radiation, you will also
increase the rate of mutation. 

X - Rays

In Beadle and Tatum’s experiment to investigate the relationship between gene and protein,
X-rays were used to mutate spores produced from the fungus Neurospora crassa. These
mutated spores were then placed in a closed system consisting of an environment
with minimal but sufficient nutrition for wild, non-mutated Neurospora crassa spores to
develop into fungi and release new spores. 

However, the experiment revealed that these mutated spores cannot develop new spores
whereas non-mutated spores placed in the same environment could. However, when the
amino acid arginine was added into the environment consisting of minimal but sufficient
nutrition, the mutated spores could then develop new spores! Beadle and Tatum proposed that
the reason for the results is that X-ray altered the nitrogenous base sequence of a gene in
DNA that coded for an enzyme required to produce the arginine amino acid. 

Therefore, X-rays prevented the enzyme to be produced via protein synthesis by the mutated
spores. After adding in arginine amino acid, the mutated spores can be develop into fungus
and produce spores.

In the end, Beadle and Tatum proposed the ‘one gene – one enzyme hypothesis’also known
as the ‘one gene – one protein hypothesis’ as it was thought since an enzyme is a protein,
they essentially mean the same thing. 

However, later discoveries revealed that some proteins requires more than one polypeptide.
For example, each haemoglobin protein in a red blood cell that has four polypeptide chains.
Therefore, Beadle and Tatum’s hypothesis was modified to be known as the ‘one gene – one
polypeptide’ hypothesis.

How does X-Ray act as a mutagen?

Keep it relevant for HSC Biology purposes, we do not need to go into too much detail here. 

The information that you should know that X-ray radiation can alter the nitrogenous base
sequence of DNA . X-ray has high ionising energy (short wavelength) allowing it to either
ionising DNA directly or ionise the cellular water that is surrounding the DNA which then
give rise to reactive radicals that then reacts with DNA. Either way, the nitrogenous base
sequence of the DNA can be altered resulting in insertion or translocation mutations. 
Insertion mutation, also known as frameshift mutation, is a type of mutation where one or
more extra nitrogenous base is incorporated into the normal DNA sequence. This therefore
alters the mRNA codon sequence and a different amino acid can be specified as a result. 

Translocation mutation is a type of mutation where chromosomes can swap segments of their
DNA sequence, resulting in one chromosome having a segment of another chromosome and
vice versa. 

How does ultraviolet radiation act as a mutagen?

Ultraviolet radiation can act as a mutagen by causing two adjacent base pairs to form
covalent bonds with each other, resulting in a dimer structure. 

Radicals cannot be formed using ultraviolet radiation as it is lower ionising strength than X-
rays (less capable of removing electrons). So, instead, dimers may be produced due to effect
of ultraviolet radiation as a result. 

The most common type of dimer structure formed is called thymine dimer. In this case,
ultraviolet radiation results in two adjacent thymine bases on the same DNA strand form
covalent bonds with each other. 

 Yes, sometimes dimers can be formed between base pairs on opposite DNA strands.

As a result, the DNA double helix structure is distorted at the position of which the dimer is
located. The formation of the dimer molecule prevents both of the thymine bases from
bonding with adenine bases on the opposite strand as the hydrogen bonds between A=T are
weakened. 

This dimer molecule is not replicated by DNA polymerase during DNA replication and thus
no nucleotides are paired with the covalently bonded thymine nitrogenous bases. This
therefore alters the mRNA sequence that specifies the amino acid sequence of the
polypeptide chain used to produce the required protein. 

This may result in the reduction in the protein’s activity or render it being unable to function
completely. However, fortunately, we do have enzymes that can repair such cross links
between adjacent bases.

In some cases such as excessive exposure to ultraviolet radiation, it causes thymine dimers to
be formed amongst adjacent nitrogenous bases in critical genes in DNA. This may result in
uncontrollable cell growth or development, leading to skin cancer. 

These critical genes are:

 Oncogenes – responsible coding for proteins that help signalling cell growth and
development.
 Tumour suppressor genes – responsible for coding proteins that stop/control cell
growth & development.
 Stability genes – responsible for specifying for proteins in maintaining the rate of
mutation of oncogenes and tumour suppressor genes
Sunscreen has organic molecules that are able to absorb the ultraviolet radiation and, thus,
prevents ultraviolet radiation from interacting with your skin cells. 

This is why you should wear sunscreen bois and gals! 

Chemical Mutagens

Chemical mutagens are chemical substances that, when exposed to them, they have the
capacity to give rise to mutation. 

Chemical mutagens can alter the nitrogenous base sequence of DNA. 

Alternatively, some chemical mutagens may insert themselves between nitrogenous

bases in the middle of a DNA double helix whereby during DNA replication. This
effectively distorts the double helix at the position where the position mutagen is
inserted. This results in wrong nitrogenous bases being complementary paired to template
strand and the chemical substance may be mistaken as a nitrogenous base during the
replication process. 

 Carcinogens are chemicals that are capable of causing cancer.

 Teratogens are chemical that are capable of causing birth defects in an offspring such as
tetracycline.

Some examples chemical mutagens are aflatoxin B, nitrous acid, naphthyl amine and
hydrocarbons present in cigarette smoke (e.g. benzopyrene)

Nitrous acid is a chemical mutagen has the capable to interact with DNA and swap a
nitrogenous base with another. 

 For example, cytosine may be swapped with uracil such that, during DNA replication,
adenine is bonded to uracil instead of guanine. Also, in this case, uracil is now present in
the DNA sequence which normally it is not.
 This effectively has alters the mRNA sequence during protein synthesis which may lead
to the specification of a different amino acid sequence in the resultant polypeptide chain.
 The reason why I used the word ‘may’ is because sometimes, there are silent mutation.
This is because in silent mutations, although the mRNA sequence is altered, the amino
acid sequence is unchanged due to the codon degeneracy nature of the translation
table.
 We have talked about codon degeneracy briefly in SNPs and protein synthesis
learning objectives in previous weeks where there can be multiple codons that specifics
for the same amino acid.

Benzopyrene is a chemical mutagen and a hydrocarbon present in cigarette smoke that is

capable of being inserted between nitrogenous bases, effectively distorting the DNA double
helix at the position where benzopyrene is added. This causes wrong nitrogenous bases being
complementary paired to template strands during DNA replication. 
  This effectively alters the mRNA sequence during protein synthesis which may lead to
the specification of a different amino acid sequence in the resultant polypeptide chain.

Naturally occurring mutagens

Naturally occurring mutagens can be biological (‘living’) or non-biological (‘non-living’) in

nature. In both case, these mutagens are classified as naturally occurring because they exist at
natural environments. 

Some biological mutagens can be substances that are formed as by-products of natural
metabolic chemical reactions. For example, cycasin is a naturally occurring biological
mutagen that is produced and present in the Australian Macrozamia plant. 

Another biological mutagen is dimethylnitrosamine which is produced as a by-product in

many animals from the chemical reaction between food containing nitrite and amines. 

For example, if you cook sausage (containing sodium nitrite) with fish (containing amines),
the combination of the nitriate and amine in the stomach’s natural metabolic processes can
form the dimethylnitrosamine mutagen.

Non-biological mutagens include those that are not living or not produced by living
organisms. Chromium is a metal and a non-biological mutagen that can be
found naturally in sedimentary rocks. Water can dissolve chromium in waterways which end
up in potable water. However, in our potable water, chromium exist in trace quantities (0.1
milligram per litre) that is unable to cause any biological harm.

 Some other metals include arsenic, cadmium and nickel.

Chromium is able to modify the chemical nature of the guanine base and so that adenine is
paired with modified guanine rather than cytosine.

2 - Compare the causes, processes and effects of different types of mutation, including
but not limited to:

- Point mutation
- Chromosomal mutation

Point Mutation

Point mutation is when a nitrogenous base is changed at a particular locus on a

chromosome. This effectively means that , similar to SNP, point mutation only affects one
gene. 

Some examples of point mutation includes the removal, addition and duplication of a
nitrogenous base at a chromosome’s locus. 

Recall that SNP is similar to point mutation in the sense that a nitrogenous base is altered in
an organism’s DNA sequence. 
However, as we have mentioned in Module 5’s notes, an event is only classified as a SNP if
the modified nitrogenous base at a locus on a chromosome exist in more than 1% of the
species’s population. 

If less than 1% of the species’s population have the same modified nitrogenous base at the
same locus of the chromosome then it is classified as a mutation event such as point
mutation.

It is common in industry to say that SNP arise due to point mutation in the population but
have persisted within the population. Comparatively, point mutation, by itself, can be an one
time event that only happens to one organism or less than 1% of the species’s in the
population. 

Causes of point mutation

Point mutation can arise due to spontaneously (natural) or be induced (unnatural). 

Spontaneous mutation deals with errors in normal DNA replication that are not repaired by
enzymes resulting in insertion or deletion of a nitrogenous base from DNA sequence. 

Induced mutation can be due to the exposure to environment agents such as ionising
radiation, chemicals or naturally occurring substances.

We have already discussed both types of mutation in the previous learning objective. 

Effects of point mutation

The effects of point mutation are identical to that of single nucleotide polymorphism that we
have discussed in Module 5 notes. 

Because they are identical, we will not go into detail in explanation and we will only do
a brief recap. 

 Please re-visit Module 5’s note on SNP for the extra detail on synonymous, non-
synonymous, mis-sense and non-sense modification of a single nucleotide at a
chromosome’s locus.
 We will introduce one new type of non-synonymous mutation here though, it is called
frameshift mutation.

Before we talk about frameshift mutation, we will briefly re-visit the familiar terms that we

talked about in SNPs in Module 5’s notes.

So, there are two broad categories of point mutation being coding point mutation and non
coding point mutation. 

Coding point mutation occurs within the coding region of DNA that specifies for a protein
whereas the latter occurs outside the coding region of DNA. 
Therefore, non-coding point mutation does not affect the amino acid sequence of
polypeptide chains in protein synthesis whereas coding point mutation does. 

There are two types of coding point mutation which are synonymous and non-

synonymous mutations. 

 For HSC purposes, synonymous mutation is also known as silent mutation which we
have introduced in the previous learning objective.

Similar to synonymous SNPs, synonymous (neutral) mutation alters DNA sequence by

substitution where a different nitrogenous base is added, effectively replacing of the original
DNA base. Thus, the mRNA sequence is altered which leads to the different mRNA codon
but still specifying for same the amino acid (due to codon degeneracy). The structure and
function of the protein are not changed (negligible). 

 NOTE: Again, since we have talked about synonymous and non synonymous SNPs in
Module 5’s notes, we suggest you to revisit Module 5’s notes on SNPs for revision. We
are not going into detail here as the effects of synonymous and non-synonymous SNPs
& mutations are pretty much identical.

For non-synonymous mutation, the mRNA sequence is altered by substitution and the
altered mRNA codon will specify for a different amino acid. This will result in a different
amino acid for the resulting polypeptide chain at the end of protein synthesis.

Similar to SNPs, non-synonymous mutations can be further divided into mis-sense and

non-sense mutations.

 In mis-sense mutations, a different amino acid is specified due to the modified DNA
sequence by substitution and thus modifying the mRNA codon sequence. A mutated
form of the protein will be formed. For example, haemoglobin round shape is changed to
a rod shape due to mis-sense mutation. This results in sickle red blood cells where its
shape can block narrow blood vessels which not only lowers the oxygen carried to cells
but can cause pain at different parts around the body. This condition is called sickle cell
anaemia.
 In non-sense mutations, the different mRNA sequence leads to the specification of a
stop codon rather than an amino acid. The resulting polypeptide and, thus protein, will
be shortened with a lower operational efficiency or unable to function completely.

Lastly, there is one more type of non-synonymous mutation other than mis-sense and non-
sense mutations. It is called frameshift mutation. 

Frameshift mutation is a type of non-synonymous mutation where a nitrogenous base is

inserted or deleted from the DNA sequence at a particular locus of a chromosome (gene),
resulting a shift in the reading frame of the ribosome on the mRNA during translation.

If there is an insertion of one nitrogenous base, the reading frame of ribosome in translation
of the mRNA codon sequence will be shifted one nitrogenous base forward. Vice versa, if
there is a deletion of one nitrogenous base, the reading frame of ribosome on the the mRNA
codon sequence will be shifted one nitrogenous backwards. 
As frameshift mutation is a type of non-synonymous mutation, a different amino acid for the
polypeptide will be specified as a result.

NOTE: If the frameshift mutation only involves one nitrogenous base being inserted or
added, it is a type of point mutation. Sometimes frameshift mutation can involve more than
one nitrogenous base. However, nitrogenous bases are never added or removed in triplets in
frameshift mutation. This is because mRNA codon are in triplets so removing or added
nitrogenous bases in triplets will not result in a shift.

Chromosomal mutation

As mentioned already, point mutation where a nitrogenous base is changed at a particular

locus on a chromosome, thereby only affecting one gene. 

Comparatively, chromosomal mutation affects DNA on a chromosomal level meaning that a

section of chromosome is changed rather than a single nitrogenous base. In chromosomal
mutation, the section of chromosome that is affected contains more than one gene which
means that it affects more than one gene. 

Cause of chromosomal mutation

The cause of chromosomal mutation is same as point mutation, so see above to recap. 

The only difference is that if chromosomal mutation occurs spontaneously, it won’t be

occurring during DNA replication stage of mitosis and meiosis. Instead, it will occur
during crossing over events in mitosis and meiosis.

High heat energy and viruses can also cause chromosomal mutation, encouraging the
abnormal exchange of chromosomal sections.

Effects of chromosomal mutation

The effects of chromosomal mutation can take in four common forms: Deletion, Duplication,
Inversion, Translocation. Each of these affects a section of chromosome which usually
contains more than one gene. 

Deletion chromosomal mutation involves the loss of a chromosome section. This means

that any genes (usually more than one) that are located in that loss section is now lost. 

The effect of the gamete that inherits such mutated DNA sequence will have some genes that
are absent. Therefore, it cannot code for some proteins that are responsible determining its
physical, physiological and behavioural traits. 

Duplication chromosomal mutation is when a chromosome section is copied. Therefore the

gamete may inherit an extra copy of the genes that are located in that copied chromosome
section. 

Inversion chromosomal mutation involves a chromosome section breaking off and

recombining, in a reversed order, with the original chromosome. The effect is that the
inversion of chromosome section can prevent crossing over from occurring. This would
therefore lower genetic variation of the offspring that is formed from the gametes that
inherited the mutated DNA sequence.

Lastly, translocation chromosomal mutation results in one chromosome section separating

from a chromosome and combining with a non-homologous chromosome. The effect of this
is similar to either deletion or duplication as one chromosome will have less genes whereas
the other chromosome will have extra genes. A gamete can inherit either one of the DNA
mutated sequence which means that the offspring can either have less genes than normal or a
duplicated copy of the genes. 

Rather than changing chromosome structure (as outlined above), sometimes

chromosomal mutation can lead to changes in chromosome number present in the
gamete and, thus, offspring that is derived from the gamete with the mutated
chromosomes. This occurs when the mutated chromosomes are not able to be separated
during meiosis.

Down syndrome disease is one disease that is caused by chromosomal mutation where
offspring has one extra copy of the chromosome 21. This is because, due to chromosomal
mutation, the mutated chromosome 21 cannot be separated during meiosis so offspring has an
extra chromosome 21 (total of 3 copies). Normal humans are diploid so we only have two
copies of each chromosomes. 

 Fun Fact: There is fifth form of chromosomal mutation where chromosome is lost
during fertilisation of gametes or development of offspring. But, that’s much rarer than
the four above that is mentioned.

3 - Distinguish between somatic mutations and germ-line mutations and their effect on
an organism

Somatic Mutations

Somatic mutations are mutations that occur in the DNA of an organism’s somatic cell(s). 

Since somatic cells are produced via mitosis, this means that somatic mutation are only
passed on via mitosis.

Effect of somatic mutation on an organism and its offspring(s)

Mutation in somatic cells will affect the organism as the mutated DNA sequence contained in
a somatic cell is replicated to other cells during mitosis. As a result of this, the organism may
develop a change in its characteristic. Recall in Module 5, we mentioned that an organism’s
characteristic can be physical, physiological or behavioural. 

In this case, somatic mutations can result in a change in the organism’s phenotype in affected
area(s) such its body, arms, legs, etc. For example, somatic mutation may lead to cancer
which may result in the shape of specific part of the body to change due to the uncontrollable
growth of unspecialised cells (cancer cells) in that particular body area. 

 Example: Skin cancer.

Alternatively, the somatic mutation may also result in a change in the organism’s
physiological characteristics such as rendering the organism unable to produce a protein
leading to the death of brain cells, known as Tay Sachs disease.

Mutations that occur in the DNA of somatic cells ARE NOT passed onto an organism’s
offspring(s) as meiosis and fertilisation does not involve somatic cells. Therefore, the
offspring will not inherit the mutation of its parent.

Germ-line mutations

Germ-line mutation are mutations that occur in the DNA of an organism’s germ or germinal
cells. 

Since germ cells produce gametes via meiosis, this means that germ-line mutations are only
passed on via meiosis. 

Effect of germ-line mutation on organism and its offspring(s)

In most cases, germ-line mutations are silent meaning that it does not affect the physical
(phenotype) or physiological or behavioural traits of the organism. This is because the
organism’s somatic cells are not affected which makes up the bulk of the individual.

Mutations that occur in the DNA of germ cells ARE passed onto an organism’s offspring (s)
as meiosis involves a germ cell and the DNA contained within the cell. 

The germ cell undergoes meiosis to produce gametes where mutated DNA sequences of the
germ cell can be passed onto gametes. When the gamete that inherited the mutated DNA
sequence undergoes fertilisation, the resulting offspring will inherit the mutated DNA
sequence. 

As the zygote develops into an embryo via mitosis, the mutated DNA in the zygote cell will
be replicated to form new cells such that the mutation will affect the overall embryo and,
thus, the resulting offspring. More specifically, some of these new cells will differentiate into
germ cells whereas others differentiate into somatic cells. The somatic cells will contain
mutated DNA but it’s the mutated DNA in germ cells can then be be pass onto the gametes
produced via meiosis to affected another new generation of offspring. This is because
gametes can give rise to mutated offsprings of the next generation when fertilised. 

Example: Sickle cell anaemia.

4 - Assess the significance of 'coding' and 'non-coding' DNA segments in the process of
mutation

So, in Module 5’s notes, we have already talked about non-coding and coding DNA regions
or segments in SNPs. Moreover, we have also mentioned coding and non-coding DNA
regions in the previous learning objective. 

Now, we are going to assess the significance of these two different DNA regions in the event
of mutation(s). 
However, before we go that, I want to point out a fun fact that only approximately 3% of
human’s total DNA belong in the coding region (i.e. DNA segments that do specify for
proteins). 

The rest of the DNA segments or sequences are in the non-coding region, i.e. these DNA
sequences do not specify for the production of proteins. However, these DNA segments have
an effect on gene expression which we will explore shortly!

Significance of DNA sequences in CODING regions of DNA

DNA sequences located in the coding regions of DNA are significant as they specify for the
protein that is to be produced through protein synthesis. We have already talked about this
during protein synthesis and protein structure & function in Module 5. 

 So basically the DNA sequence in the coding region of DNA is responsible for the
mRNA sequence during transcription. Then, the mRNA codons each specify for an
amino acid, resulting in an amino acid sequence of a polypeptide chain during
translation.
 One or more polypeptide chains can be folded to make a protein and determining its
structure and function.

Therefore, mutation in the DNA sequence located in the coding region DNA will therefore
affect the mRNA sequence, amino acid sequence and, thus, the structure & function of the
resulting protein. 

The resulting protein may therefore lose some OR all of its efficiency in performing its

function due to changes in its structure. 

 Again, the word ‘may’ is used here because some mutation can be silent or neutral as we
have learnt in the learning objective #2.

Example: As we have learnt in Beadle and Tatum’s experiment, the X-ray has caused a
mutation in the coding region of the DNA such that the enzyme’s (protein) structure is altered
and therefore cannot catalyse the reaction required to produce the arginine amino acid.

Therefore, since mutation of DNA sequences in the coding-region of DNA can affect the
function of proteins, the physical, physiological and behavioural traits of an organism can be
affected (as proteins are responsible for them).

There is significance in the DNA sequences located in coding regions for prokaryotes too.

In prokaryotic organisms are the opposite to eukaryotes in the sense that most of its DNA
sequences are in the coding region of DNA. Most of these DNA sequences are responsible
for the produce of enzymes with the function to repair DNA in the event of mutation.

However, when the DNA sequences in the coding region of enzymes are mutated, the
prokaryotes have lower capacity to repair mutation. Therefore, as a result, the rate of
spontaneous and induced mutation spikes in prokaryotes.
 Significance of DNA sequences in NON-CODING regions of DNA

The DNA sequences that are in the non-coding region of DNA are called regulatory
sequences. These sequences in the non-coding region of DNA controls gene expression. 

More specifically, they control where and when genes are expressed, the location where
splicing to remove introns (non-coding regions of mRNA) and the location where ribosomes
will bind to the mRNA. 

 For example, if a mutation occurs in a DNA segment located in non-coding region of

DNA, the production of small nuclear RNA responsible for splicing (removal of introns)
prior to translation may be affected. This may render the small nuclear RNA to partially
lose some of its function or completely lose its function. As a result, some introns will
not be spliced away or removed in the mRNA before translation. This intron that is not
spliced away could signal for a stop codon during the translation which affects the amino
acid sequence of the resulting polypeptide chain. This would therefore affect the
structure and function of the resulting protein.
 In other cases, the intron that is not spliced away could lead to some exons (coding
regions of mRNA) to be skipped so that an amino acid may not be specified as a result.

If you recall, we have talked about late stage Alzheimer’s disease under the SNPs learning
objective in Module 5. We mentioned that SNPs can increase the likelihood of an organism
developing late stage Alzheimer’s. Similarly, it is found that mutation in an organism’s DNA
sequence located in the non-coding region of DNA can also increase the likelihood of the
organism in developing diseases including Alzheimer’s disease and other non-infectious
diseases such as heart disease. 

It is also discovered that mutations in a DNA sequence located in a non-coding region of

DNA of a germinal cell can result in birth defects. That being said, biologists are currently
not completely certain as to why this is the case.

5 - Investigate the causes of genetic variation relating to the processes of fertilisation,
meiosis and mutation

We have already explored in detail of how fertilisation and meiosis can increase genetic
variation in Module 5. More specifically, to summarise, this would include: 

Fertilisation:

 Fertilisation involves the combination of gametes where the alleles for each gene in the
two gametes are independently assorted and segregated in meiosis.

Meiosis:

 Crossing Over
 Independent assortment
 Random segregation
However, since we have now talked about spontaneous and induced mutation can increase
genetic variability, we should make a new category for it. 

There are two forms of mutation, which we talked about, that can increase genetic variability.
These are:

Spontaneous mutation:

 DNA replication error during Interphase I meiosis that are NOT repaired or corrected by
repair enzymes
 Unequal crossing over during Prophase I of meiosis*
 Transposon (Jumping genes)*
 Spontaneous chemical degradation of DNA*

* We will talk briefly about these processes on genetic variation to add onto our
knowledge

Induced mutation

 Electromagnetic radiation (ionising and non-ionising)**

 Exposure to chemical mutagens**
 Exposure to naturally occurring mutagens**

** We have already talked about these processes, as part of induced mutation, and their
effect on the resulting protein in learning objective #1. 

 Obviously, only whenthese induced mutation occur in the DNA of a germ cell, then the
resulting offspring inherit the mutation of the parent and thus the population will have
increased variation (by inheriting the new, mutated DNA sequence or allele).

Unequal crossing over during Prophase I of meiosis

Unequal crossing over can occur if the two homologous chromosomes that are undergoing
crossing over are not lined up exactly side-by-side. 

This means that one chromosome of the homologous pair could be positioned slightly
towards the north pole of the cell whereas the other chromosome of the homologous pair is
positioned slightly towards the south pole of the cell.

When crossing over occur, the result is that different lengths chromosome is exchanged
between the two non-sister chromatids. This results in two chromosomes of different and
abnormal lengths at the end of the crossing over. 

One chromosome will have more genes whereas the other chromosome will have fewer
genes. This will mean that the gamete that is fertilised to produce the offspring can have less
or more genes than normal which will result in consequences in producing the required
protein.
 Transposon (Jumping Genes)

Transposons is a type of transposable element that is responsible for sponanteous 

Transposable elements are sequences of DNA that is capable of moving around the genome.
A type of transposable element is called transposons. These are sequences of DNA that is
capable of moving from one location of the genome to another. 

Fun Fact: They can move around and recombine at a different area in the genome by coding
for an enzyme called transposase 

 By chance, they may insert (or translocate) themselves in the middle of a gene. As a
result of this, it may result in a frameshift mutation which we have talked about. As
mentioned already, frameshift mutation causes the ribosome’s reading frame of the
mRNA codon sequence to change. This means that the amino acid sequence may be
altered and affect the structure and function of the protein which we have discussed
already.

Spontaneous chemical degradation of DNA

Sometimes there are chemical reactions involving DNA resulting in the loss of functional
groups that are located on the nitrogenous base. 

For example, a chemical reaction can lead to the loss of an amino group (process known as
deamination) that is located on cytosine. The result is that so that cytosine will be converted
into uracil that should not be in DNA. This means that, during DNA replication, adenine will
bind with the mutated uracil rather than guanine as cytosine is no longer present. 

This will affect the mRNA sequence which may affect amino acid sequence and, thus, the
structure and function of the resulting protein. By affecting the structure and function of the
protein, the organism’s physical, physiological and behavioural traits may be affected. 

Also, if the mutated DNA sequence occurs inside a germ cell, such mutation is passed onto
gametes during meiosis which can result in the mutated parent’s offspring to inherit such
mutation if the offspring is derived from the gamete that inherited the mutated DNA. 

Similar to all other types of mutations that we have mentioned previously, DNA repair
enzymes can correct such mutations. However, if DNA repair enzymes fails to correct such
mutation then it will persist in the DNA and affect the outcome of DNA replication,
transcription, translation, etc. 

Evaluate the effect of mutation, gene flow and genetic drift on the gene pool of
populations

In Module 5, we explored population genetics which deals with the study of the changes in
the frequency of alleles or genotype in a population over time. 

Gene pool essentially refers to all the genes present in all interbreeding organisms in
population. 
Of course that natural selection affects the genetic variation of a population’s gene pool by
constantly selecting organisms with favourable characteristics to tolerate against the changing
ambient environment’s selective pressures. 

However, mutation, gene flow and genetic drift also affect the genetic variation of
populations’ gene pool. We are going to examine them in this learning objective.

But how do biologists assess the change or distribution of genetic variation throughout a
population? Well, we measure it in terms of allele frequency. 

Keep in mind that although mutation, gene flow and genetic drift affect the allele frequencies
of a populations, it is ultimately natural selection that selects the characteristics which are
favourable against the ambient environment’s selective pressures.

Effect of mutation on populations' gene pool

As the rate of mutation of DNA in germ cells decreases, the frequency of new alleles passed
onto offspring and thus, being introduced into the population, will decrease. Therefore, the
genetic variation of a population’s gene pool will decrease. 

Vice versa, as the rate of mutation of DNA in germ cells increases, the frequency of new
alleles passed onto offspring and thus, being introduced into the population, will increase.
Therefore, the genetic variation of a population’s gene pool will increase.

Effect of gene flow on populations' gene pool

Most populations are in fact not isolated as there generally subpopulations within a
population. Each subpopulation consists of species that are close relatives to each other. 

In terms of heredity, this means that not all genes passed onto offsprings in the next
generation is not from one population but can also be due to the mating of species belonging
to different subpopulations within the total population. 

The term migration also refers to gene flow. Therefore, immigration of species’s from one
subpopulations to another subpopulation will allow gene flow amongst species’s in each
population. Sometimes, species from a population can also immigrate into a different
population in which the mating of the species of the two population allows gene flow
between the two populations. 

As the species’ from the two populations mate with each other and exchange genetic
material, the exchange of alleles will increase allele frequency in the population. Thus, it
increases the genetic variation in the population which the one species migrated towards and
performed mating activities. 

This would also mean that the population where species emigrated (left to go to new
population) had experienced a decrease in allele frequency. This means that the population
where the species emigrated from have decreased in genetic variation. 

The third situation is when there is continuous, high gene flow between the two populations
where species from both originally genetically isolated populations immigrate to each other.
This will result in the gene pool of the two populations to increase in genetic similarity over
time due to gene flow. This would also mean that the genetic variation of both populations,
that were originally genetically isolated, to increase due to increase in allele frequencies in
species’ of both populations. Furthermore, this would obviously mean that the differences in
the gene pools of two population due to mutation will be minimised as they become more
genetically similar. 

Effect of genetic drift on populations' gene pool

Genetic drift is the event where one or more alleles are lost in a population due to random
events that happen by chance. As a result of genetic drift events, the allele frequency of the
original population’s gene pool will decrease. 

There are two explanations for genetic drift occurring within a population which are called:

 The bottleneck effect

 The founder effect
 Both effects explains genetic drift using events that happen by chance. Therefore,
genetic drift is random and happen by chance.

We have already touched on the bottleneck effect in Module 5 under MtDNA. Essentially,
the bottleneck effect explains that chance of sudden decline in population due a random
event such as an Ice Age, natural disaster or elimination of habitat resulted in the loss of one
or more alleles for a gene in the population of concern. This would lead to a decrease in the
allele frequency and, thus, lowers the genetic variation of the resulting population’s gene
pool.

The founder effect essentially refers to the separation (can be in the form of migration) of
some species’ from the original population to another location. A barrier (e.g. geographical
barrier) can separate or isolate the species’ of the original population from the newly
migrated population. 

The species that are separated from the original population are known as the founders of the
new population that is established in the new location, isolated from original population. By
random chance, the new population may have different allele frequencies compared to the
old population and, thus, lower genetic variation in the gene pool compared to the old
population. This is because, by chance, the founders may not carry all the genetic variation
of the old population. The off springs of the founders will therefore not inherit all the genetic
variation present in the original population as the frequency of some alleles are effectively
reduced to zero in newly founded population.

Similarly, the original population will experience a decline in the genetic variation due to
isolation or migration of a portion of its population to form the new population. As a result,
the original population will have lost some of its allele frequency which is measured as a
decline in genetic variation in the original population’s gene pool.

 NOTE: Genetic drift has much greater effect on small population compared to large
population as the % decrease in allele frequency is greater in smaller populations.
Practice questions:

Distinguish between point and chromosomal mutation and account for their
implications on the affected individual. [6 marks]

o A single base pair in a DNA or RNA sequence can change, which is known as a point
mutation. It is only a minor mutation. Chromosomal mutation, on the other hand,
describes a structural or numerical alteration in an organism's chromosomes. It involves a
significant mutation. Chromosome mutation has a significant effect since the changed
chromosomal region may include a large number of genes. Change, insertion, or deletion
can result in point mutations. Chromosome mutation, on the other hand, can result
through duplication, translocation, inversions, deletions, non-disjunction of
chromosomes, crossing over, etc. This summarises the distinction between chromosomal
mutation and point mutation.

Explain how point and chromosomal mutation can affect offsprings in the new
generation and provide examples of such implications. [6 marks]

o A parent's gene mutation may be passed on to their offspring through their egg or sperm.
Throughout a person's life, these inherited mutations are present in practically every cell
of their body. Cystic fibrosis, haemophiliac, and sickle cell disease are examples of
hereditary mutations. Throughout a person's life, further mutations may occur on their
own. Spontaneous, sporadic, or novel mutations are the terms used to describe them. Only
a few cells are affected. New mutations may arise as a result of ultraviolet radiation
damage from the sun or exposure to specific substances. Parents do not pass on these
mutations to their offspring.

Explain the significance of mutation of genes in the coding and non-coding regions of
DNA. [8 marks]

o The importance of some non-coding DNA regions in controlling gene activity has been
discovered. Such segment mutations may impair its function.Despite the fact that they do
not directly code for proteins, non-coding DNA segments regulate the activity of
regulatory proteins. (proteins that act on genes and regulate their functions). Therefore,
any specific alteration to non-coding DNAs will cause a protein to be produced at the
incorrect time or location. There are three ways that mutagens might result in mutations:
Some of them function as base analogues and are mistakenly employed as substrates
during the replication fork's DNA synthesis process. Some directly interact with DNA,
resulting in structural alterations that force the template strand to be copied incorrectly
when DNA is duplicated. We'll observe the variety of these structural alterations when we
examine certain mutagens. Some mutagens affect DNA indirectly. Although they may not
directly alter DNA structure, they do trigger the cell to produce compounds like peroxides
that have a direct mutagenesis effect.

Inquiry Question 2
 Inquiry Question – How do genetic techniques affect Earth’s biodiversity?

Investigate the uses and applications of biotechnology (past, present and future), including:

1 – Analysing the social implications and ethical uses of technology, including plant and
animal examples

2 – Researching future directions of the use of biotechnology 

3 – Evaluating the potential benefits for society of research using genetic technologies

4 – Evaluating the changes to Earth’s biodiversity due to genetic techniques 

Inquiry Question

 inquiry question is essentially exploring how human’s use of biotechnology affects

biodiversity on Earth, we should explore the definition of both ‘biotechnology’ and
‘biodiversity’. 

Biodiversity is essentially refers to the total variety and variability between & within all
classes of species as well as the ecosystems in which they reside. 

Yes, that was a handful. This is why biodiversity can be subdivided into three broad
categories. These are:

Genetic Diversity – refers to the total variety of genes (allele frequency) within a species.

Species Diversity – refers to the total variety or types of species living on Earth.

Ecosystem Diversity – refers to the total variety of ecosystems (habitats) and the abiotic
components interacting within an ecosystem (e.g. components such as water, air and soil) on
Earth.

Now, what is biotechnology?

Biotechnology refers to activities involving living cells particularly involving the use of

organisms or their materials as tools or for commercial use.

 NOTE: Genetic Technology is a branch of biotechnology which we will explore soon.

We will be exploring the relationship between biodiversity and biotechnology in this week’s
notes in terms of the benefits, disadvantages, ethics and the future. 

This essentially relates back to Module 5 in terms of genetic variation and the continuity of
species. By lowering the biodiversity, you will decrease the genetic variation and vice versa. 

Why is biodiversity important?

As we have mentioned already, one aspect of biodiversity is genetic diversity within species.
If a species population have low genetic diversity (or variation) it would be susceptible to
extinction upon changes in ambient environmental selective pressures. 

Thus, the genetic diversity (and biodiversity) is critical to the continuity of the species as we
have already explored in detail in Module 5 Notes.

Species diversity is also important as we rely on a range of plants, microbes, terrestrial

organisms as well as aquatic organisms to manufacture a variety of goods. 

These include food (beef, lettuce, fish meats, etc), medicine (e.g. different drugs and
vaccines) and many common substances that humans use (e.g. sheep wool for carpets, chair
seatings, tennis balls, etc).

 There a decline in species diversity would mean the availability of such food, medicine
(penicillin from fungus) and common substances may be reduced or completely
removed.

The last component of biodiversity is ecosystem diversity. As mentioned in the definition

earlier, ecosystem diversity provides abiotic components such as circulation and purifying
air, water, erosion control, water level control as well as fertile land for agricultural purposes.
The destruction of natural ecosystems will result in a decline in not only species and genetic
diversity (thus biodiversity) of the organisms residing in such habitats, but important those
abiotic components in sustaining life.

 For example, rainforests are critical in not only providing oxygen for terrestrial and
aquatic organisms to perform cellular respiration but also in maintaining the CO2 level
in the atmosphere. This is important as the level of carbon dioxide in the atmosphere will
have any effect on the temperature on Earth. The enzymes in living organisms are
sensitive to temperature and thus extreme temperatures would hinder the operations of
metabolic processes and can result in death.

It is now clear that preserving biodiversity is important. It should also mentioned that tourists
travel around the world each year to explore natural landscapes such as rainforests which are
a large source of revenue for many countries.

1 - Analysing the social implications and ethical uses of biotechnology, including plant
and animal examples

Before we start analysing the social and ethical implications from the use of biotechnology,
let’s explore what biotechnology entails in a broad sense. 

As we have defined earlier, biotechnology refers to activities involving living cells particular
involving the use of organisms or their materials as tools or for commercial use. 

Historically, biotechnology was focused on selective breeding process which involved

selecting parents with favourable traits to produce offspring that is similar high quality  &
abandoning offspring with traits that are not/less favourable. Moreover, past biotechnology
techniques also focused on using microbes to manufacture beer, wine, cheese, bread and
many more. 
However, as time passed, the use and purpose of biotechnology evolved which we will refer
to modern biotechnology which we will refer to biotechnology from this point onwards.

(Modern) biotechnology deals mainly with cellular molecules with DNA. There is only one
reason to why biotechnology works. This is because biotechnology operates base on the
principle that all living organisms are comprised of the same form of genetic material. That
is, DNA nucleotides. 

Recombinant DNA technology is one technology widely used across the biotechnology
industry which can be used to create transgenic species. 

The process of producing a transgenic species starts with the identification of the desired
gene to be inserted into an organism. Once the desired gene is identified, FISH (fluorescence
in situ hybridisation) technology is used to locate the desired gene in the organism’s DNA
for extraction. 

The extraction process involves using a gene splicing technique in recombinant DNA
technology. In the gene splicing technique, the same restriction enzyme is used to cut the
DNA sequence in the organism containing the desired gene and a plasmid DNA molecule
(vector molecule) in order to transfer DNA of one species to another. 

The use of the same restriction enzymes allow the creation of sticky ends in which
complementary base pairing between the plasmid and cut out gene can be performed.
Moreover, an enzyme called ligase is used to repair and consolidate the cut out gene so that it
combines with the plasmid DNA. 

 Note that polymerase chain reaction (PCR) is often used to make multiple copies of the
gene which is inserted into each plasmids to allow larger quantities of the gene to be
produced.

By adding heat to a solution containing the modified plasmid and E coli bacteria, the bacteria
will absorb the plasmid into its DNA whereby the plasmid can be copied as the bacteria
reproduces in a nutrition rich environment with antibiotics.

 Note that the plasmids have naturally genes for antibiotic resistance. Since the
nutritional environment in which the bacteria is cultured contains antibiotics, any
bacteria that does not absorb the plasmid containing antibiotic resistant gene will be
killed. Thus by adding antibiotics in the culture environment, it ensures all surviving
(old and new) bacteria carry the desired gene.

This allows multiple copies of the recombinant DNA to be produced by the bacteria (in some
cases yeast is used instead). The recombinant DNA can be inserted into a host species to
convert it into a transgenic species. 

 It is important to note that these organisms involved in the DNA recombination process
do not need to be related and the technique allows favourable characteristics from one
individual to be also be exhibited in another individual (may or may not be the same
type of species).
  This process is selective as the gene that specifies for the favourable trait can be
extracted.
 NOTE: In industry, genetically modified organisms (GMO) refers to those organisms
with their DNA modified due to mutation (spontaneous and induced). Comparatively,
transgenic species with modified DNA are NOT produced via mutation but using
techniques such as recombinant DNA technology as mentioned earlier. In reality,
manufacturers make GM food and transgenic food synonymous despite them being
different!
 Fun Fact: Other methods to produce transgenic species include: DNA microinjection,
embryonic stem-cell mediated gene transfer, retrovirus-mediated gene transfer,
electroporation, etc.

EXAMPLE: Glow in the Dark Rabbits!

For example, through recombinant DNA technology, biotechnologists use a restriction

enzyme to cut DNA segments in jellyfish that are responsible for their glow-in-the-dark
feature and the same restriction to cut out same section of DNA from rabbits. The glow in the
dark jellyfish DNA is inserted into a rabbit mother’s embryo and the rabbit embryos develop
into produce a glow-in-the-dark rabbits! 

Anyways, a last point that we wish to touch on is that modern biotechnology can be divided
into several categories which includes: medical, industrial, food, agricultural, marine and
environmental. 

We will be focusing on medical, agricultural and marine biotechnology for HSC Biology.

Past (Conventional) biotechnology

This will be the only section focusing on past biotechnology techniques and all other sections
in this week’s notes will be referring to modern biotechnology unless otherwise specified.

Past biotechnology techniques can be divided into early and classical biotechnology. 

Early biotechnology involved humans growing crops (through the use of seed) such as
wheat to make bread dates back to 8000BC by ancient Egyptians. Fast forwarding to
4000BC, some common crops that we see in modern civilisation including potatoes and peas
are seen to be grown in America and Eurasia. 

At around 1000BC, ancient Babylonians introduced and performed selective breeding on

date palms and tomatoes. This involves growing and selecting the offsprings with the most
favourable traits such as size and quality and abandoning any crops with less favourable
traits. 

Ancient fermentation of grapes to produce wines were also common. 

In terms of classical biotechnology it is based off with the introduction of genetics which
started with Linnaeus’s publication of the science behind classifying plants into different
groups in 1735. 
About 100 years later, in 1859, Charles Darwin published the Theory of Evolution by Natural
Selection. In 1865, the birth of genetics was initiated by Gregor Mendel in his work on cross
breeding pea plants. His experimental results led to his proposal of the three major laws of
inheritance being – dominance, independent assortment and random segregation, officially
marking the birth of genetics studies. This had the significance that genetic materials can be
passed on from one generation to another which critical for the operation of modern
biotechnology techniques requiring the interaction with species’ DNA.

Mendel’s proposal had the consequences of paving the way for farmers to experiment with
cross breeding plants to produce hybrid offsprings with favourable traits of its parents. 

Fast forwarding to modern biotechnology, it involves interaction with living cells at a

cellular and molecular (DNA) level.

Social implications on the use of biotechnology

The use of biotechnology has benefited the society in many areas as outlined below.

Medical Biotechnology

 The insertion of human gene that specify the production of insulin into a bacteria (thus
making the bacteria a transgenic species) for replication, scientists are able to produce
insulin at a large scale by the bacteria to treat patients suffering from diabetes and saved
many lives. This is because insulin is a hormone that is able to regulate the blood sugar
level to prevent blood pressure from being excessively high and damage blood vessels.
Until 1982, the only method to obtain insulin was from beef meaning that the insulin
was scarce quantities.
 The extraction of a gene from Hepatitis B virus and combining the DNA of yeast for
cloning was the first vaccine produced using recombinant DNA technology. The success
of biotechnology not only lowered the cost by improving the efficiency of vaccine
production so that vaccines are now widely accessible but also minimised the risk
involved in producing vaccines. This is because, prior to the use of biotechnology named
recombinant DNA technology, the antigen responsible for Hepatitis B virus needs to be
extracted from the blood of affected patients. This inherently involved the risk of
contacting and receiving blood-borne diseases.
 There are many tools being invented or created to increase the capacity for the value in
which medical biotechnology can provide to society. These include the introduction of
gel electrophoresis used for DNA profiling and sequencing which we have talked
about in Module 5.
 Another tool is the growing use of nanoparticles and nanodevices in the growing field of
nanomedicine to both directly enhance patient’s immune response, detect signs of
cancer, edit genes by delivering enzymes, as well as to perform tissue repairs.
 For example, the fragile X symptoms (associated to autism) in mice are lower by
delivering an enzyme using gold nanoparticles which alters the DNA of a receptor
responsible for autism in mice. This new technique in medical biotechnology of
delivering enzymes to edit the genome of individuals is called CRSPR which can be
accelerated with the development of nanoparticles to transport such enzymes to desired
gene locations.
  So medical biotechnology supports the prevention, control and treatment of diseases.

Agricultural Biotechnology

 The insertion of genes that specify the production of vitamin C and E in tomatoes help
reduce the risk in people developing heart disease.
 The “Golden Rice” involves inserting genes into plasmids that specifies for the
production of beta carotene which is converted into vitamin A. These plasmids are then
transferred into rice embryos to produce Golden Rice which has higher vitamin A
concentration than traditional white rice. Golden Rice can help reduce vitamin A
deficiency conditions that are suffered by millions of people globally.
 Another example involves a gene that specifies for starch product to be inserted into
plasmids which are absorbed by a bacterium for replication. This modified plasmid is
inserted into the Russet Burbank potato to enhance the starch level. This results in less
oil being absorbed by the potato strips upon frying when making french fries. This
improves the health of society as there is less fat in french fries, reducing obesity and
possibility of heart disease.
 The extraction of insect-resistant Bt gene from the bacteria, Bacillus thuringiensis,
allows biotechnologists to insert the gene into crops such as corn and cotton to resist
crops being invaded by insects and pathogens (e.g. bacteria and virus) as the gene
specifies for Bt toxins proteins. This ultimately results in less harmful pesticides (such as
insecticides) required and exposed by farmers themselves as the chemicals can cause a
range of health issues from respiratory problems to cancer. Pesticides are also toxic to
fish as it can reduce the fish’s ability to regulate its internal temperature which can affect
enzymes’ ability to catalyse necessary metabolic processes like cellular respiration to
sustain life.
 Also, due to lower dosage required, the effect of pesticides runoffs into ambient
waterways that are harmful to fish can be reduced (although this is an environmental
implication rather than societal).
 On top of being responsible in increasing the supply of food to the growing world
population (more pathogen-resistant crops increases crop yield), agricultural
biotechnology also supports in enhancing the nutritional value of food to improve
health by preventing nutritional deficiencies.
 Agricultural biotechnology can also reduce the risk of diseases (e.g. starch potato case)
 Recombinant DNA technology used in the field of agricultural biotechnology lowers the
time required for intensive labour care in conventional cross pollination breeding
procedures to produce offsprings with characteristics (both favourable and non-
favourable) from both parents.

Aquatic or Marine Biotechnology:

Aquaculture is a application of marine biotechnology that involves the culturing of marine

organisms to identify genes that are used in both enhancing crop yield, growth of aquatic
organisms and treating diseases.

 For example, through aquaculture, it was identified that the insertion of a growth
hormone gene into salmons are able to accelerate its growth. Faster growing salmons
 increases global food availability to meet the demands of the growing world
population.
 The discovery and isolation of the DNA segment that specifies for the anti-freeze
protein from the Northern Cod that resides in cold Canadian waters allows scientists to
insert them growing tomatoes and strawberries. These crops are able to survive and
grow in cold locations around the world that otherwise would not be possible which
increases the food availability for the growing world population.
 In 2013, the green fluorescent protein can be obtained from a DNA segment in
jellyfish and be inserted into rabbits’ embryos to produce glow-in-the-dark rabbits. This
allows scientists to verify whether the inserted genes into rabbits are operating as
expected serving as a way for animals to produce the medicines (proteins) required
to treat diseases in the future. This includes using animals to produce blood-clotting
enzymes to treat diseases such as haemophilia which lowers the current production
cost in factories that has a fixed cost of over a billion US dollars. This would effectively
allow greater accessibility to medicine in developing countries.
 Again through aquaculture, the discovery of the gene specifying for the production
of calcitonin, a protein hormone that enhances calcium absorption into the body, is
located in salmons. This gene can be placed into E.Coli bacteria’s plasmids for
replication (recombinant DNA technology). The result is mass production of calcitonin
hormone which can be injected into the human body to prevent osteoporosis (bones
becoming brittle), affecting over 1 million Australians.

Environmental implications on the use of biotechnology

As the world population grows with increasing demand to increase crop production and yield,
the need to clear land and forests to grow crops is necessary. This therefore raises the concern
about Earth’s limited land capacity being used up as population grows.

By using biotechnology techniques, the need for deforestation and thus effects of soil
erosion are reduced. 

As from Year 8 Geography, the tree roots stabilise the soil so removing trees would
destabilise the soil and result in soil erosion. 

The effects of deforestation and soil erosion extends beyond destroying the habitats and
ecosystems of species that reside in the forest/rainforest. But, the loose soil can be carried
away by rain which end up in local waterways which increases the water turbidity.

The soil that results in high water turbidity can completely remove by covering
underground aquatic habits as well as eliminate larvae that are residing in the waters. 

This effectively reduces biodiversity as it decreases ecosystem diversity and species

diversity (variation). 

With the insertion of Bt genes into crops, the species such as butterflies and beetles can
experience a decline in species diversity and thus biodiversity. This has may yield
undesirable or unexpected implications on the overall food chain.
 Ethical implications on the use of biotechnology

The discussion involving ethics is vital to establish the rights, wrongs, moral standards,
responsibilities and justice pertaining to the use of biotechnology. As you can already tell,
we can go on forever on this topic so we will only discuss to cover a sufficient scope and
depth for you to answer HSC Biology long responses.

Gene therapy involves inserting a gene into an organism’s DNA in replace a defective gene
that is responsible for a disease. This is useful as it be assist in the prevention, control and
cure of diseases which we will also explore in Module 7 and 8! Furthermore, genes that
specify for cytokines production can also be inserted into the affected organism’s DNA to
stop the growth of or remove cancer cells.

Well, the ethical implication that comes along with gene therapy involves whether or not
gene therapy should be performed on germ cells. 

If gene therapy is advanced and refined, there will be ethical issues surrounding the use or
misuse of genomic information. For example, although gene therapy is only currently
performed in the patient’s cells and not his or her germinal cells, the resulting gametes and
offspring of the patient will not be affected. 

However, if gene therapy is performed on germ cells, the unborn offspring may be affected
without freedom of choice. Furthermore, as gene therapy advances and becomes more
refined, the effects of the first few operations on germ cells will be unknown and may yield
adverse side-effects on the resulting offspring.

That being said, there are arguments in favour of applying gene therapy to germ-line cells
to remove health disparities between people of different ethnicities. 

Furthermore, the fact that the introduction of Bt gene into crops are toxic to species such as
birds, butterflies and beetles, it has consequences of reducing biodiversity and
manipulating evolution. 

This subject of manipulating evolution brings forth the idea of “playing as/with god” in
which western religions, such as Islamic and Christian religions, strongly disapprove as
regard as disrespectful. This is because, as per their religion beliefs, biotechnology involves
humans intervening with God’s role in creation life, dictator of death and being, thus,
responsible for evolution.

Moreover, as humans are only a small category of species residing on Earth, there are
questions pertaining to the equal rights other plant and animal species to survive and
whether humans should dictate the survival of many categories of species? This is because, as
mentioned already, agricultural biotechnology is capable of altering biodiversity.

Another ethics lies in the area of whether or not the increased global food availability and
reduction nutritional deficiency used as justifications for biotechnology are actually
being prioritised in supporting the people located in developing countries that require
the support the most. 
Another ethical issue involves biotechnology reducing biodiversity (in the form of genetic
variation) with the majority of the farmers will shift towards using genetically modified food
including crops and aquatic organisms having the same genes and potentially outcompeting
their respective variants in the population.

Summary of actions to undertake:

 At the end of the day, as outlined by the Australasian Association of Bioethics and
Health Law (AABHL), it is important to encourage a wide range of stakeholders to
participate in the discussion and formation of ethical policies that balances interests of
all parties whilst still allowing innovation in the biotech field.
 Secondly, the unique ethical responsibilities of stakeholders are required to be addressed
and communicated globally. Furthermore, it is important to ensure transparent global
communication pertaining to existing and new developments in the codes of ethical
conduct. Currently, countries like Africa have negative perceptions that the above the
average due to poor relay of biotechnology in term of what it entails and its effects on
cost, health and environment.
 Lastly, these codes are required to be periodically reviewed and adaptive to new
information.

Researching future directions of the use of biotechnology

As mentioned before, medical biotechnology is a subdivision of the biotechnology field and

its future use lies in the prevention, control and treatment of diseases. The future of medical
biotechnology holds the advancements in gene therapy which is currently in its infancy.

Gene therapy involves inserting a gene into an organism’s DNA in replace a defective gene
that is responsible for a disease. This is useful as it be assist in the prevention, control and
cure of diseases which we will also explore in Module 7 and 8! Furthermore, genes that
specify for cytokines production can also be inserted into the affected organism’s DNA to
stop the growth of or remove cancer cells.

Currently, gene therapy is still in its infancy stage and refinements are necessary to ensure the
safety and efficacy in removing and inserting genes into individual to produce desired results.
Some of the current risks pertaining to gene therapy are the event where too many or too few
proteins are specified, the patient’s immune response triggers inflammation and many more
that would threaten the health of the individual.

The insertion of therapeutic proteins to substitute the absence or low level of protein
produced via natural, in-vivo protein synthesis due to a defective gene may be a substitute of
gene therapy. 

Currently, high-throughout put screening (HTS) techniques that employs computer

technologies and robots are used to automate the process to test the ability of various
therapeutic proteins. These proteins functions to bind with receptors in the body to relay
electrochemical messages to the hypothalamus and initial a desired response. Many of these
therapeutic proteins that are approved in the USA by the FDA are also monoclonal antibodies
used to treat various cancer diseases and arthritis. Currently, therapeutic proteins is a growing
medical biotechnology area as HTS techniques are currently being used to automate the
process to explore different therapeutic proteins to cure conditions such as asthma and
muscular dystrophy.

Stem cell research, nanomedicine (as mentioned earlier) are also growing fields!

Evaluating the potential benefits for society of research using genetic technologies

We have discussed potential benefits of research using several genetic technologies for
society already. So, we won’t go into detail. The list are some areas which we have already
talked about that can yield benefits for society upon future research. 

 The use of HTS technique to test different therapeutic proteins to cure different medical
conditions.
 Gene therapy on individual and germ-line cells to cure diseases and disorders and
remove health disparities between different ethnic and racial groups.
 Aquacultures used to culture aquatic organisms facilitates the discovery of genes that
produce new transgenic species that would be beneficial for medical biotechnology (i.e.
the jellyfish case, gene to treat osteoporosis disease). Advancement in marine
biotechnology can also increase crop and food yields to meet the demands of growing
world population (e.g. cold strawberries, cold tomatoes, faster growing salmons
examples mentioned earlier).
 Research into nanoparticles in the field of nano-medicine can allow the transportation
of various drugs or proteins to treat diseases or disorders. For example, using gold
nanoparticles to transport enzyme to edit genes as discussed earlier.
 Advancements in nanoparticles are able to accelerate the capabilities of delivering
various enzymes through the CRISPR (Clustered regularly interspace short palindromic
repeats) technique to edit genes to cure diseases and disorders.

Practice questions:

Evaluate the social benefits of three different fields of biotechnologies. [7 marks]

o Massive amounts of the world's fossil fuel reserves have been consumed by humans.
These reserves are non-renewable and finite. Additionally, the glasshouse gases produced
by their use have a harmful influence on the environment. Through a process known as
artificial biosynthesis, which uses live organisms like bacteria, fungi, or plants to
manufacture fuels, chemicals, and other materials, biotechnology can support
environmental sustainability.

Evaluate the ethical implications of using biotechnology with named examples from
three different standpoints. [5 marks]

o Utilizing living things, their components, or products to create a useful product or process
is known as biotechnology. A classic example of biotechnology is fermentation, which
uses microorganisms to produce cheese, bread, and brew. Recombinant DNA technology,
which gives single-celled creatures new traits, and transgenic technology, which produces
multicellular animals containing genes from various types of organisms, are two common
biotechnologies. Transgenic plants include GM fruits and vegetables like a particular
 variety of corn that produces a bacterial pesticide. Access to innovative medicines and
therapies, the possibility of ecological devastation, the thought of tampering with nature,
and the availability and use of privileged information are only a few examples of ethical
concerns. Healthcare and agriculture are two examples of applications.

Explain how does genetic techniques affect Earth’s biodiversity? [8 marks]

o Genetic engineering results in genetically altered organisms, plants, and animals. They
may have an impact on biodiversity if they are introduced to the environment. For
instance, more dominant new species may supplant established ones. During the licencing
process, these and other potential implications are taken into account. (Such effects can of
course also occur following the introduction of non-genetically modified animals plants
and organisms.) Understanding is necessary to evaluate the effect on biodiversity. So that
the State can evaluate the impacts of potential GMOs on biodiversity, this information
must be updated on a regular basis. A significant ecological research effort called ERGO
sought to assemble ecological knowledge, for instance, on how novel GMOs affected
their environment.

Inquiry Question 3
Inquiry Question – Does artificial manipulation of DNA have the potential to change
populations forever?

 Investigate the uses and advantages of current genetic technologies that induce genetic
change.
 Compare the processes and outcomes of reproductive technologies, including:
o Artificial insemination
o Artificial pollination
 Investigate and assess the effectiveness of cloning, including:
o Whole organism cloning
o Gene cloning
 Describe techniques and applications used in recombinant DNA technology, for example:
 The development of transgenic organisms in agricultural and medical applications.
 Evaluate the benefits of using genetic technologies in agricultural, medical and industrial
applications.
 Evaluate the effect on biodiversity of using biotechnology in agriculture.
 Interpret a range of secondary sources to assess the influence of social, economic and
cultural contexts on a range of biotechnologies. 

Inquiry Question
we will elaborate on previous week’s notes in the areas of how genetic technology is able to
create and influence biodiversity and genetic variation. 

However, we will also elaborate on the reproductive technologies which we have touched on
in Module 5. That is, artificial insemination, artificial pollination and cloning.

 NOTE: Transgenic species is NOT a reproductive technology by itself.

Moreover, we will explore the area of industrial biotechnology in terms of what it involves,
its present benefits and futures benefits. 

Lastly, we will examine how social, economic and cultural contexts can hinder or accelerate
the development and use of biotechnologies.

Investigate the uses and advantages of current genetic technologies that induce genetic
change

There are many different genetic technologies that can be used in different fields of

biotechnology (medical, agriculture, aquatic, etc as we have mentioned in last week’s notes).

Some new examples of genetic technologies that you can provide in the HSC Biology Course
that induce genetic change include the following:

 Hybridisation
 Transgenesis (production of transgenic species that we have talked about in last
week’s notes)

We will have a detail examination of the processes of hybridisation and transgenesis

processes, their uses as well as their advantages.

Hybridisation

The purpose of hybridisation, which involves the interbreeding of two different strains of
plant or animal, is to produce hybrid offsprings that has favourable characteristics of parents. 

 Strains are different groups of organisms or, genetic variants, within a species group.

For instance, hybrid sheep derived from a Australian merino sheep and a Border Leicester
ram is able to produce excellent meat as well as wool. However, the Merino sheeps
themselves are good wool growers but poor meat producers. Vice versa, boarder leicester
rams are poor wool growers but good meat producers. The mating of the two parent species
allows the hybrid sheep offspring to be both excellent meat and wool producer.

Do note that there is a comprise in the wool quality in the hybrid sheep which is lower in
quality than merino sheeps. 

Obviously, like most genetic technologies except for cloning, hybridisation can be used to
increase genetic variation if performed carefully. This is because hybridisation are be used to
mate two different strains of organisms that may be genetically isolated such as through a
physical barrier in nature. In this situation, the genetic variation of a population can be
increased through assisted hybridisation.

Another example of hybridisation is between noble cane and wild cane. Noble cane has the
capacity to produce large quantities of sucrose although being prone to disease than wild
sugar canes. Comparatively, wild sugar canes are more resistant to diseases. 

Through nobilisation, which is a term used to refer to the hybridisation between noble and
wild sugar canes strains, the hybrid noble cane has the genes that allow it to be more tolerate
against diseases while producing high concentration of sugar. 

Transgenesis

The process of producing a transgenic species starts with the identification of the desired
gene to be inserted into an organism. Once the desired gene is identified, FISH (fluorescence
in situ hybridisation) technology is used to locate the desired gene in the organism’s DNA for
extraction. 

The extraction process involves using a gene splicing technique in recombinant DNA
technology. In the gene splicing technique, the same restriction enzyme is used to cut the
DNA sequence in the organism containing the desired gene and a plasmid DNA molecule in
order to transfer DNA of one species to another. 

The use of the same restriction enzymes allow the creation of sticky ends in which
complementary base pairing between the plasmid and cut out gene can be performed.
Moreover, an enzyme called ligase is used to repair and consolidate the cut out gene so that it
combines with the plasmid DNA. 

 Note that polymerase chain reaction (PCR) is often used to make multiple copies of the
gene which is inserted into each plasmids to allow larger quantities of the gene to be
produced.

By adding heat to a solution containing the modified plasmid and E coli bacteria, the bacteria
will absorb the plasmid into its DNA (process known as transformation) whereby the plasmid
can be copied as the bacteria reproduces in a nutrition-rich environment with antibiotics. 

 Note that once the bacteria absorbs the plasmid containing gene another species, it is a
transgenic species.
 Note that the plasmids have naturally genes for antibiotic resistance. Since the
nutritional environment in which the bacteria is cultured contains antibiotics, any
bacteria that does not absorb the plasmid containing antibiotic resistant gene will be
killed. Thus by adding antibiotics in the culture environment, it ensures all surviving
(old and new) bacteria carry the desired gene.

This allows multiple copies of the recombinant DNA to be produced by the bacteria
(sometimes yeast is used instead of bacteria). This was how insulin was mass produced to
save many lives as we have discussed in previous week’s notes. 
The recombinant DNA can be inserted into a host species to convert it into a transgenic
species.

Compare the processes and outcomes of reproductive technologies, including:

- Artificial insemination
- Artificial pollination

We have already talked about artificial insemination and pollination in Module 5. 

As artificial insemination and artificial pollination are reproductive technologies for

selective breeding, it signifies that an offspring is produced as an outcome which we know is
true as explored in Module 5.

Let’s explore both processes and their outcomes now.

Artificial Insemination Process

Artificial insemination is a method in which semen with male gametes (sperms) is collected
and injected into a female organism’s uterus or womb (typically of the same species) at the
appropriate time. 

 Semen can be collected using an artificial vagina (safest way for organism) or through
using electro-stimulation.
 Glycerol can be added to the semen to prevent any water from freezing and thus
destroying the sperm gametes. This is because glycerol can remove water. Semen is then
stored straws which are submerged in liquid nitrogen to prevent structural and chemical
decay of the male gametes over time.
 After submerging the semen straws in warm water which thaws the contained semen, the
semen can be transferred to a sterilised artificial insemination gun.
 The gun is inserted into the female organism’s cervix or uterus through the rectum.

The outcomes of artificial insemination (as discussed in Module 5): 

As artificial insemination is a type of selective breeding technology, it can be used to produce

an offspring that is genetically dissimilar with both of its parents’ favourable characteristics. 

Like all selective breeding technology, if artificial insemination is performed at a large scale
by using the same two parent organisms repeatedly, the offspring of the next generation
would be low biodiversity. Thus, the genetic variation of the species population would
decrease. Hence, if farmers decide to use perform artificial insemination at a large scale using
the same two parents genetically dissimilar, an unfavourable change in environmental
selection pressure can result in the death of many offspring and mass loss to the farmers. 

Of course, if artificial insemination is performed in a controlled manner in preference for

increasing genetic variation, the biodiversity of the new generation of offspring would
increase. This is because new offspring’s that is genetically dissimilar to parents can be
created using artificial insemination due to creation of new allele combination as a result
crossing over. Furthermore, these two genetically dissimilar parents may be genetically
isolated at the time, such as separated by a physical barrier like an ocean, at which artificial
insemination is performed. This means artificial insemination allows the generation of new
combinations of alleles that would otherwise not be possible by natural means.

 Note that if the parent organisms (especially the male which fertilises many females) are
not properly tested for sex-linked diseases, mass artificial insemination can provide a
means through which diseases can be rapidly spread throughout the population.
 As artificial insemination requires special equipment and well-trained personnel to
execute the techniques used in artificial insemination, it can be expensive.
 Through artificial insemination, Muri is the first gorilla was created using such
technology.

Artificial Pollination

Artificial pollination involves the manual transfer of pollens into stigma of another plant to

combine with the egg cell (ovule) of the plant. This technique was performed by Gregor
Mendel as we have mentioned in Module 5. 

There are two types of artificial pollination being cross pollination and self-pollination which
we have discussed in Module 5. 

Outcomes of artificial pollination (as discussed in Module 5):

As artificial pollination is a type of selective breeding technology, it can be used to produce

plant offsprings with favourable characteristics of both parents in cross pollination. In such
case, the plant would be genetically different from both parents due to new allele
combination being created meaning that genetic variation of the plant species would
increase. 

Compared to cross-pollination, self pollination causes the resulting flower offspring (after

seed germination) to have far less genetic variation than their parents in most cases compared
to cross pollination. This is because the resulting flower is only produced
from only one parent plant rather than two plants in cross pollination. As mentioned in
Module 5, if the parent in self-pollination is heterozygous for some genes, the resulting
flower may have probabilities of being genetically different to their parents for those genes.

Like all selective breeding technology, if artificial pollination is performed at a large scale by
using the same two parent plants repeatedly, the offsprings of the next generation would be
lower in biodiversity. Thus, the genetic variation of the species population would decrease.
Hence, if farmers decide to use perform artificial pollination at a large scale using the same
two genetically dissimilar parents, an unfavourable change in environmental selection
pressure can result in the death of many plants and mass loss to the farmers. 

Of course, if artificial pollination is performed in a controlled manner in preference for

increasing genetic variation, the biodiversity of the new generation of offsprings would
increase due to the creation of new allele combination as a result of crossing
over. Furthermore, these two genetically dissimilar parents may be genetically isolated at the
time, such as separated by a physical barrier like an ocean, at which artificial pollination is
performed. This means artificial pollination can allow the generation of new combinations of
alleles that would otherwise not be possible by natural means.
  Note that if the parent plants (especially the male plant which crosses with many female
plants) are not tested for the presence of disease, mass artificial pollination can provide a
means through which disease can be rapidly spread throughout the population.

Investigate and assess the effectiveness of cloning, including:

- Whole organism cloning

- Gene cloning

Moving onto another form of genetic technology, these are whole organism cloning and gene
cloning. 

Here, we will explore what each of these entail in terms of understanding their process and
effectiveness. 

Now, here, we can further our definition of cloning that we have learnt in Module 5 which
was “cloning is a type of asexual reproduction used to create offsprings that are genetically
identical to the parent”. This is because as we will learn in this learning objective, we can
produce clones of an entire organism or its genes (sequences of DNA).

Therefore, our revised definition of cloning can be defined as the process of asexually
producing genetically identical replicas of an organism OR a molecule that the organism is
comprised of (e.g. DNA).

Whole organism cloning

One common method used in cloning organisms is called somatic cell nuclear transfer. 

In this process, an empty egg cell, with haploid nucleus destroyed using UV radiation and
removed, is obtained from a female organism, a process known as enucleation. Following
this, the somatic cell containing the genome of the (different) organism which scientists
wants to clone is fused with the empty egg cell. 

The somatic cell containing the genome (also known as donor cell) is injected into the empty
egg cell.

This allows the egg cell to have a diploid number of chromosome and genetically identical to
the sheep that contributed the somatic cell containing its genome. 

An electric shock is used to stimulate cell division of the egg cell such that it develops into an
embryo.

The embryo is then implanted into a surrogate or foster mother organism (3rd organism)
whereby the surrogate mother will give birth to the offspring that is genetically identical to
the sheep that donated the somatic cell containing DNA. 

Advantages or effectiveness of cloning:

While selective breeding techniques such as hybridisation, artificial insemination and

artificial pollination can produce offsprings with favourable characteristics from parents,
cloning is used to produce offsprings that are genetically identical to organisms with
favourable characteristics. 

Cloning can allow the replication of organisms that have favourable characteristics at a large
scale. This could provide higher yield of products (lowering cost to consumers) and higher
quality of products obtained.

 For example, merino sheeps can be cloned as they produce high quality wool, prized
cow that make better quality milk, prized pigs that can produce better quality meat, etc.

Disadvantages or limitations of cloning:

 Cloning produces offsprings that are genetically identical to the organism that donated
the somatic cell with DNA. This means that cloning lowers the genetic diversity and
variation of the species’s population. If cloning is performed on a mass scale, it could
lead to mass decline in species population and also major loss to farmers that have many
clones animals.
 The fact that clone have DNA of the somatic cell of another organism, any mutation that
may occur in the DNA contained in the original somatic cell is transferred into the
cloned offspring. Therefore, if somatic mutation could result in a disease or cancer, the
cloned offspring would be equally affected.
 There are many ethical issues surrounding producing clones such as religious issues
concerning that humans should not interrupt with evolution by playing as/with god, also
case studies involving clones that die earlier than expected.
 Cloning is also expensive so there is an economic limitation on its effectiveness (cost
effectiveness).
 Dolly the Sheep was the first sheep was succesfully produced using cloning through
somatic cell nuclear transfer.
 Prometea was the first horse that was produced via cloning.

Gene cloning

We have already talked about how genes can be cloned or replicated through using various
techniques in recombinant DNA technology we mentioned in learning objective #1 in this
week’s notes. This included:

 Gene splicing: Using same restriction enzyme to cut desired gene contained within an
organism’s DNA and a plasmid.
 Polymerase Chain Reaction: Placing the DNA sequence of the desired gene into a
thermal cycler machine to make multiple copies of the gene which can be inserted each
plasmid.
 DNA vector technique (also called transformation): Using a plasmid to transfer the
gene into a bacteria to replicate the gene.

However, we are not done with the learning objective yet. We should also understand the
purpose of gene cloning as it is examinable in HSC Biology exams. 
Gene cloning allows the nucleotide of a sequence can be determined as we have learnt in
Module 5 in Sanger’s Method. From this, the structure & function of the protein or RNA in
which the gene specifies can be analysed. 

Moreover, gene cloning is essential in the identification of the exact nucleotide sequence
(DNA sequencing process) which allows scientists to determine whether there is any SNPs or
mutation that is responsible for a disease. For instance, we have explored in Module 5 –
Inquiry Question #5 notes, scientists part of the IGAP project have identified 20 possible
genes associated to late stage Alzheimer’s Disease. By identifying the exact nucleotide
sequence of these 20 genes in people affected by late stage Alzheimer’s Disease, any SNP or
mutation this genes could be identified and be analysed as possible causes of Alzheimer’s
Disease. 

An example of the effectiveness of DNA sequencing was mentioned in Module 5 notes. For
example:

 Scientists successfully establishing the evolutionary relationship that crocodile are in

fact more closely related to birds than reptiles.

Lastly, as we have mentioned in last week’s notes, recombinant DNA technology can allow
the cloning of genes through gene splicing and DNA vector techniques to create a modified
plasmids. Such modified plasmids containing the desired gene(s) can be insert into bacteria
for gene cloning. We explored examples of how gene cloning is effective for large scale
insulin production that saved many lives of people suffering from diabetes. Also, gene
cloning also effective in allowing the large-scale production of Bt genes for Bt crops, Beta
carotene for Golden Rice, antifreeze gene for cold strawberries, growth hormone for
producing AquaAdvantage Salmon which help address problems such as increasing food
demand due to growing world population and nutritional deficiency problems. 

Disadvantages or limitations of gene cloning:

 The desired gene must be identified before it can be cloned. Often this means that the
protein that is desired must be found using other means (e.g. through aquaculture).
 The desired gene to be extracted using restriction enzyme must first be located in the
genome using other techniques such as FISH which we have mentioned in learning
objective #1 of this week’s notes.
 As discussed in Module 5, there are many ethical issues surrounding transgenic species
in regards to potential health issues (e.g. possible transfer of allergens), religious issues
(e.g. playing as/with god to create new species), the issue concerning the equity of
different species surviving due to potential reduction in biodiversity, etc.

Describe techniques and applications used in recombinant DNA technology, for

example:

- The development of transgenic organisms in agricultural and medical applications

We have already talked about the process of how recombinant DNA technology works in
Learning Objective #1 of this week’s notes. Therefore, we will not go over it again. 
Rather we will now move on to explore the applications of recombinant DNA technology. 

We will explore three techniques used in recombinant DNA technology, all of which we have
examined already. 

Recombinant DNA technology used in gene splicing to produce drugs in biotechnology

Gene splicing is a technique used in recombinant DNA technology that involves using same
restriction enzyme to cut a desired gene and a plasmid. The gene is then inserted into an open
(cut) plasmid and strengthened using ligase enzyme. 

Gene splicing therefore is a technique that set up the bacteria so that it contain the desired
gene which is replicated as the bacteria undergo binary fission. 

Thus, through gene splicing technique, recombinant DNA technology is able to produce large
quantities of genes specifying for substances such as antibiotics, insulin and many other drugs
and hormones. This effectively increases the availability and lowers the cost of drugs for
patients globally. 

You can also talk about how gene splicing technique allows recombinant DNA technology to
insert genes into plasmids to replicate the desirable genes used in agriculture such as in
producing Bt crops. The advantages of Bt crops have been discussed in last week’s notes so
you can revisit it for revision. 

Recombinant DNA technology used in PCR in medical biotechnology, forensic science

and paternity testing

Polymerase chain reaction (PCR) plays a critical role in producing many roles such as in
DNA fingerprinting used in paternity testing as well as in forensic science to match a sample
DNA found in crime scene to the individual which the DNA belongs. We have already talked
about how DNA fingerprinting works by comparing DNA bands in paternity testing and
forensic science in Module 5. 

Furthermore, polymerase chain reaction also has role in DNA sequencing used in establishing
evolutionary relatedness between organisms through identifying exact nucleotide sequences.
For instance, through DNA sequencing, it has been established that crocodiles share a more
recent ancestor (thus more closely related) with birds than with reptiles as we have discussed
in Module 5. 

Recombinant DNA technology used in DNA vectors and microinjection to insert desired
gene(s) into nuclear DNA to produce transgenic species

The use of DNA vectors such as plasmids extracted from bacteria allows DNA, carrying the
desired gene(s) inserted via gene splicing technique, to be replicated. This technique of using
DNA vectors in recombinant DNA technology allows the bacteria to absorb the plasmid and
produce many copies of the desired gene(s). 

The subsequent stage involves one of many recombinant DNA techniques to transfer the
modified plasmids containing the desired gene into a host organism such that it becomes a
transgenic species. For example, microinjection is a technique used in recombinant DNA
technology to insert the modified plasmid into the host organism.

Transgenic species produced in agricultural biotechnology has already been discussed last

week – Bt crops, golden rice, etc.

Transgenic species produced in medical biotechnology has also been discussed last week.
This includes using transgenic rabbits by inserting a sequence of DNA containing a gene in
jellyfish that has green fluorescent property alongside other genes to examine whether the
desired genes are successfully expressed. 

Another examples involves the production of insulin which we have also talked about in last
week’s notes. The insulin gene obtained from humans, after PCR, is placed into a DNA
vector (plasmids) which is absorbed and replicated using bacteria. The resulting modified
plasmids are inserted into bacteria (transgenic species) whereby the large bacteria colonies
can produce the insulin at scale.

Another example includes the use of DNA recombinant technology to insert a gene that
specifies for a protein that can help clot blood which is useful for patients who have
haemophilia. Many copies of this gene, after PCR, is placed into DNA vectors (plasmid)
which are absorbed and replicated using bacteria (transgenic species). The resulting
modified plasmids are inserted into a sheep such that it produces milk whereby the blood
clotting factor can be extracted. 

Evaluate the benefits of using genetic technologies in agricultural, medical and

industrial applications

We have already mentioned both the present and future benefits of agricultural and medical
biotechnology in the previous week’s notes (Module 6 – Inquiry Question #2).

So, we will only talk about the present and future benefits of industrial biotechnology below.

Present benefits of industrial biotechnology

Currently the field of industrial biotechnology involves using biotechnological tools to

produce substances at a large scale used in industries or society. These can include various
plastics polymers, enzymes, fuels, chemicals, etc.

The present benefits of industrial technology lies in innovating or modifying existing

industrial processes to lower the cost of production (e.g. for the products we have listed
above) by increasing efficiency as well as to reduce the environmental impacts due industrial
processes. 

We will move on to explore some examples of benefits now.

Through the use of recombinant DNA technology, enzymes can be quickly produced at a

large scale (thus cheaper cost) to produce antibiotics, plasminogen activators, and wines
with enhanced smell & taste. 
  Antibiotics have the treat bacterial infections by hindering their ability to perform
metabolic processes, DNA replication processes, protein synthesis and preventing
bacteria from making a cell wall. Due to this, antibiotics is able either prevent the
growth of bacteria (which allows time for our white blood cells to destroy the bacteria)
or kill the bacteria directly.
 Plasminogen activators can help remove blood clot by breaking the fibrin polymer
layers. Blood clots formed in the deep veins are dangerous as a section can break loose
be transported to the lungs which can result in organ damage.
 Cold-tolerant enzymes are able to be produced at an industrial scale using recombinant
DNA technology to for the brewing of wine. By using cold-tolerant enzymes, the
fermentation of wine can occur in lower temperatures which lowers the chances of
contamination thereby reducing the amount of sulfur dioxide required to be added into
the manufacture process as a preservative. As sulfur dioxide produces a strong,
undesirable aroma that covers the smell and flavour of the wine, the reduction of sulfur
dioxide improves the smell and taste of the wine. Furthermore, some of the sulfur
dioxide can dissolve in the wine to produce sulfite ions which cause skin rashes.
Therefore, by lowering the content of sulfur dioxide in the wine production process,
there is also health benefits for wine consumers.

Apart from enzymes, the improved fermentation of glucose derived from sugar canes

using immobilised cell reactors is also biotechnology that involves the use of microbes to
produce ethanol, a biofuel used in modern motor vehicles. Through using immobilised cell
techniques, such as binding to carrier technique, in an immobilised cell reactor, the enzymes
(produced by yeast) are held in place allowing a higher yield of ethanol. Furthermore,
the purity of ethanol would be higher due to lower chance of contamination. All of these
would lower the cost of production of ethanol which is an economic benefit for society in
moving forward to a renewable energy source (e.g. using ethanol) rather than burning fossil
fuels. This would therefore yield the benefits of reducing environmental pollution up to
59% than using gasoline as ethanol combusts more readily and thus cleanly than traditional
octane (non-renewable fossil fuel). As a result, less carbon monoxide would be secretes into
the environment which is toxic to living organisms by reducing oxygen uptake. 

Future benefits of industrial biotechnology

With increasing world population requiring a greater demand in energy (e.g. electricity
requirements), the non-renewable nature of fossil fuels currently used to generate energy
needs will not be sustainable in the future. 

The use of biotechnology to generate new sources of renewable energy would be required to
sustain and advance the current state of living in everyday life. 

The current sources of renewable energy requires large quantity of arable land to grow the
crops to produce biofuel such as obtaining glucose which is then fermentation to produce
ethanol. The limitations of this is that such use of land would restrict the capacity to grow
food (e.g. tomatos, potatoes, etc) to meet the needs of the growing world population. 

A possible solution to this is through the use of photobioreactors in producing biodisel from
microalgae at a large scale. Microalgae provides many advantages over current plants that are
currently used to produce biofuel (such as sugar cane to produce ethanol). This includes the
fact that algae does not require to be grown on agricultural land, it grows during any time of
the year as it can sustain harsh ambient conditions, reducing water and pesticides required
(lowering cost) and higher yield per unit area (from 10 to 100 times more than conventional
biofuels such as ethanol).

The limitations currently is that the cultivation cost of microalgae is greater than plants such
as sugar cane in producing biofuel. Furthermore, there will be problem with producing
microalgae arises when the availability of sunlight varies.

Perhaps, with recombinant DNA technology, a gene can be identified and inserted into
microalgae that enhances its yield production during low sunlight conditions. 

Evaluate the effect on biodiversity of using biotechnology in agriculture.

we have already explored about how agricultural biotechnology can affect biodiversity. 

Interpret a range of secondary sources to assess the influence of social, economic and
cultural contexts on a range of biotechnologies

Influence of social context on biotechnology

Society influence the field of biotechnology in many ways.

It is important to note that there health disparities between people residing in different
countries due to the subjection to different environmental selection pressures as well as
difference in ethic and racial groups.

Due to this, it is common to see that a disease are more common in some countries compared
to others. 

For example, Australia has one of the highest reported cases of melanoma (type of skin
cancer) in the world, up to twice the amount compared to North America countries. 

The reasons contributing towards melanoma are said to be the skin colour of Australian the
location of Australia being close to the equator where the ozone layer is thiner thus allowing
more UV radiation to pass through. We have already talked about how UV radiation can lead
to cancer in Module 6 – Inquiry Question #6 by changing the DNA sequence of oncogenes
and tumour suppressor genes, resulting in abnormal growth of unspecialised (cancer) cells. 

From this, it is not surprisingly how the development of the melanoma vaccine to prevent and
control the development of melanoma has much higher priority in Australia compared to
countries where there is less exposure to UV radiation or people residing in countries with
darker skin tone as there is more melanin pigment to protect against UV radiation.

Another case study involves Ebola. This is very common in countries in the west Africa
compared to the rest of the world. There are many societal factors or contexts that contribute
towards the high incidence of the Ebola disease experienced by Africans in west Africa. 
Below are some:

 The wide practice of the relatives of the dead bathing with the dead’s body is a
traditional funeral customs in West African societies. It has been approximately that up
to eighty percent of Ebola cases in West Africa countries are directly associated to such
funeral practices.
 Initially, there are insufficient amount of doctors located in West Africa countries.
According to the world health organisation, there is a ratio of one to one hundred
thousand citizens.
 The medical staff also had limited knowledge on how to control Ebola hence there were
no isolation ward that were in place for affected patients when Ebola initially broke out.

For such reasons, the high incidence of Ebola in western Africa countries prompt the need to
test and produce an effective Ebola vaccine in the medical biotechnology field to control the
spread of Ebola throughout the West African countries and, ultimately, the world. 

As the majority of the societies in the world do not have Ebola diseases, there is less
influence by those unaffected societies on prompting the invention of an Ebola vaccine in the
medical biotechnology field.

Influence of economic context on a range of biotechnologies

There are many economic considerations towards how economics may impact the field of
biotechnology.

Depending on the richness of biodiversity a country may have, the degree in which economic
contexts have influence on biotechnologies will differ. 

For example, Philippines is considered one of the 18 countries in the world with richest
(highest) biodiversity. 

In 2016, pharmaceutical products derived from Philippine’s fauna and flora residing in
rainforests exceeds $3.5 billion USD annually. It is a country with the third largest
pharmaceutical market in the world. Furthermore, aquatic organisms sold from Philippines
accounts for over $550 billion USD dollars annually.

Due to this, the Philippines is the first south eastern asian countries to regulate the risk in
which biotechnology brings as it can reduce the rich biodiversity in the country. 

In 2015, the supreme court of Philippines banned the import of millions genetically modified
soybeans in fear of the threat to the biodiversity of the country (later approved after rigorous
risk assessment). As of currently, there is a long timeframe of 65 months for a genetically
modified (GM) product to be approved for cultivation in Philippines. 

Comparing countries with rich biodiversity such as Philippines to countries with less
biodiversity, the less strict approval process of GM products is apparent as there is less
economic effect. Instead, the lower production cost crops of GM products can help increase
the countries’ revenue. 
Another economic reason that may delay the introduction genetically modified products into
the market can be the royalties that farmers would need to pay for pharmaceutical companies
that hold the patents for the technology in producing the GM product. Due to such reasons,
small farmers with limited land to grow crops in developing companies such as Philippines
are strongly against GM product as they will not make a high profit. This is because the
significant portion of cost savings by spending less on pesticides due to the pesticide-resistant
nature of GM crops will be given as royalties paid to the companies holding the patent.

This problem is furthered when large companies with more fertile land are able to capitalise
on the increased yield, less pesticide and water requirement of GM crops. 

As a result, this would allow large companies to further increase their competitive advantage
against smaller scale farmers by selling GM products to consumers at a lower price. 

Another reason contributing to the hinderance of GM product launches is the uncertainty

behind whether or not the large-scale agricultural companies are using the technology to
increase nutritional value, global food availability and reduce costs to consumers. This is
because there have views from society and small-scale farmers regarding high commercial
interests that corporations have in place and disregarding the potential risks (e.g. any
allergens present) associated with GM products.

Due to these economic concerns on both the side of government and small farmers, there is a
hinderance to the global development, acceptance, and usage of GM products. 

Influence of cultural context on a range of biotechnologies

Depending on the culture in which people belong or have experienced in the past, their views
on biotechnology would differ. These unique cultural views on biotechnology can either be
supportive, neutral or against the use of biotechnology. 

For example, the Hawaiians has Taro as a staple food which is also sacred in the Hawaiian
culture. Over the last century, the species and genetic diversity of taro has greatly reduced
due to taro leaf blight disease caused by a fungus. 

For such reasons, the use of agricultural biotechnology, specifically recombinant DNA
technology, to insert genes from grapevines into traditional Hawaiian taro to produce disease-
resistant GM taro. The problem is that Hawaiian people fear that GM taro would reduce the
purity of the taro and alters the food’s identity. Also, they fear that GM would reduce the
biodiversity of the Taro and, thus, remove their option to grow different variants of Taro.

As such biotechnology experiments were performed without informing the Hawaiian people,
there has been months of protestation to the government on putting a halt experimenting with
GM Hawaiian Taro. This was followed by the passing of a bill through the Senate of the
Hawaiian government to put a moratorium (cease of activity) on the experimentation of GM
Hawaiian Taro. It was noted in the bill that it serves to protect the food’s identity and purity
as the Taro food is sacred to the Hawaiian culture. 

In some religions such as Christianity, it is believed that god is the dictator of life and death.
Therefore, the protest drugs developed through medical biotechnology techniques that may
be too expensive for purchase in developing countries should not be considered. Rather, the
fact that biotechnologists are creating drugs to help cure diseases or disorders is suffice for
their production, given that any associated uncertain risk of uptalking the drug is not
excessively high.