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QUEEN LUU

BLUEPRINT OF LIFE

9.3 Blueprint of Life


Evidence of evolution suggests that the mechanisms of inheritance, accompanied by
selection, allow change over many generations
Evolution is the change in a population over time
Natural selection
Biological evolution through natural selection occurs when there is a selection pressure for a
particular characteristic that increases the chances of survival in a changing environment
Change in the environmental influences evolution by selective pressure (e.g. competition, predation,
diseases) may favour certain characteristics over another those possessing these traits will have a
greater chance of survival to breed and pass these traits onto their offspring (resulting in an increase in
population of the organisms whom possess these characteristics and a decrease in population in those
that do not) these traits become more common in the population population has evolved
Individuals do not develop an adaptation in response to environmental change the organism already
possesses the variation that confers an advantage under the new condition. Variation is now called an
adaptation because it enables the organism that possess it to cope better with the selective pressure

Evolutionary theory
Evolutionary theory states that all organisms have developed from pre-existing organisms. To be more
precise, all organisms have a common origin in some initial form of life, which over billions of years of
change in many different directions, has given rise to the vast variety of organisms, present and past.
Therefore all living things are fundamentally similar because their basic chemistry has been inherited
from the very first organisms
Isolation
-

Darwin and Wallace argued that evolution could be brought about by a mechanism in which
competition and environmental pressures naturally selected the best-adapted individuals. This
mechanism was called national selection
Darwin published ;The Origins of the Species in 1859
Isolation must occur for a new species to evolve usually by a physical barrier
Within each separate populations, different mutations occur and therefore different variations are
produced
Natural selection acts on the different populations in different ways because each has different
characteristics and environmental pressures
Eventually the populations become so different they no longer interbred
This process over millions years will give rise a new organisms
E.g. Marsupials are only found in Australia and New Guinea however their fossils can be found in
Antarctica and South America this provides testimony to the common ancestry of marsupials before
the breaking of the super continent Gondwanaland
Many species in Australia were widely distributed across the continent from east to west. The formation
of desert in central Australia effectively isolated the organisms in the west from those in the east. Now
a comparison of eastern Australian and western Australian species reveals a similarity due to a
common ancestry prior to the isolation

OUTLINE THE IMPACT


IN THE EVOLUTION OF
PLANTS AND ANIMALS
OF:
CHANGES IN
THE
PHYSICAL
CONDITIONS
IN THE
ENVIRONME
NT
CHANGES IN

Chemical
-

Environment consist of both biotic (living) and abiotic (non-living) factors


Abiotic factors can be either physical or chemical

Physical temperature, water availability, light, wind, slope and tide

Chemical presence of gases, pH, concentrations of chemicals, salts


and metals
Evolution can be considered over long periods of time or shorter periods of
time
changes
When life first evolved it developed in an environment free from oxygen
Primitive organisms living at the time metabolised simple organic molecules in
the sea producing carbon dioxide as a product
Over millions of years, the carbon dioxide accumulated

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BLUEPRINT OF LIFE
THE
CHEMICAL
CONDITIONS
IN THE
ENVIRONME
NT
COMPETITIO
N FOR
RESOURCES

Organisms capable of using this carbon dioxide in photosynthesis evolved and


multiplied
They produced oxygen as a product of their metabolism, creating an
environment that simple animals could exploit
Just as life altered the chemistry of the atmosphere, so too the chemical
changed impacted on evolution
Many plants prefer a specific soil type, however the introduction of mining has
led to the evolution of plant varieties especially tolerant to mineral wastes
Macro-evolution

Takes place over millions of years measured as geological time

Results in arising of new species

Example the Red wolf, jackal and dog all come from a common
ancestor each is a separate species belonging to the same genus
Canis
Micro evolution

Takes place over shorter periods of time

Results in changes within populations does not provide new species

Example Different breeds of dogs, which all belong to the same


species
Physical conditions
Sea levels have risen and fallen
Through various times parts of Australia has been covered in oceans or been
dry land
Such drastic changes in the environment influence evolution
Fossil evidence indicates that many mass extinctions have resulted from
changed in the Earths physical environment
During the Cretaceous period, mammals had existed for about 75 million
years but they were a relatively minor component of the diverse cretaceous
biota. While some mammals became extinct, those that survived evolved and
diversified to inhabit many environments free from competition for resources
with the now extinct dinosaur
25 million years ago, the physical conditions in Australia ace changes, with
increased aridity causing a decrease in rainforests and an increase in open
woodlands and grasslands with poor-quality grasses. These changes have
altered the selecting pressure of kangaroos

Ancient kangaroos which were much smaller have evolved into the
modern-day red kangaroo

Larger in size

Eats grass using its high crested molar teeth

Reduction in numbers of toes and increase in toe length assist in


speed
Macro-evolution

Example evolution of organic molecules

Urey and Millers experiments supported Haldane and Oparins theory


that organic compounds may have formed on earth in the presence of
strong ultraviolet radiation, electrical energy from lighting and high
temperatures from volcanic eruptions

Reduced incidence of ultraviolet radiation resulted in organisms


growing larger and more complex leading to greater diversity of
aerobic life
Micro-evolution

Example Peppered moth, DDT resistance in insects and antibiotics


resistance in bacteria
Competition
Occur between the same of different species
Competition may arise between organisms for resources such as light, water,
space and nutrients in plants and food, water, shelter, maters and breeding
territory in animals
When the dinosaurs died out, mammals had few competitors and diversified to
occupy the many available niched in the ecosystem.
Long-term competition usually results in the elimination of one of the
competing species or the evolution of the competition species to occupy a
different niche
E.g. In Australia the introduction of many species e.g. rabbits, foxes and feral
cats, has caused serious competition for resources with native species
extinction of many species

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BLUEPRINT OF LIFE
-

PLAN AND CHOOSE


EQUIPMENT OR
RESOURCES AND
PERFORM A FIRSTAND INVESTIGATION
TO MODEL NATURAL
SELECTION

Peppered
-

E.g. The leaden flycatcher and the restless flycatcher both feed on similar
insects but in different ways. The leaden flycatcher catches flying insects from
trees whereas the restless flycatcher hovers above the ground and emits a call
that disturbs the insects before pouncing on them shows how over time,
different species of flycatcher evolved occupying slightly different niches as a
result of competition
Moth
In England, the peppered moth occurred in two varieties: white and black form
The white form was much more common as they were able to camouflage
against the white lichen that covered the trees of its habitat
As industry developed in the 19th century, the bark and lichen became
darkened under a cover of soot
The black moth was now better camouflaged and it became more abundant as
the white moth fell more easily to prey

Prac:
-

There are 30 moths in the original population, 10 of each colour


Each year the moths meet at random and produce an offspring
Offspring is determined as followed

Black x black = black

White x white = white

Black x grey = black and grey

White x grey = white and grey

Grey x grey = black, grey. white


Each year after the moths have mated, a predator kills one third of the
population thus at the end of the year there are 30 moths to begin breeding
for the next year
Purpose: To observe natural selection by means of a model
Equipment: Die, moth cards
Procedure:
1. To represent random mating: shuffle the cards and randomly deal them to make
15 pairs
2. Determine the colour of their offspring and add it to each pa
ir

Black x black = black

White x white = white

White x black = grey


3. For any other crosses, use the die to determine its offspring
Combination
Die
B and BG is black
1 or 2
B and BG is grey
3 or 4
W and WG is white
1 or 2
W and WG is grey
3 or 4
G and G is white
1
G and G is black
2
WG or BG is grey
3 or 4
5 or 6 roll again
4. To represent predation Role a die 15 times to randomly determine which colour
moth dies

White = 1

Grey = 2 and 3

Black = 4, 5 and 6
Year
Black
White
Grey
Total
0
10
10
10
30
1
7
12
11
30
2
2
14
14
30
3
0
18
12
30
4
0
23
7
29
5
0
30
0
30
6
-

Predators may feed on black moths more often because they are an easier
target. Their colour is more distinct and so provides a greater contrast in its
surroundings more easily seen by predators
Although black moths do not exist in one year, they may reoccur the next due
to grey moths breeding, providing a chance of black offspring

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BLUEPRINT OF LIFE
Model (specific to this model of natural selection)
Advantages
Disadvantages
We could generate a few generations
Model does not include the natural
of moths in a short period of time,
complexities e.g. moths are not
making it more practical (time
hermaphrodites, they have more than one
compression)
offspring, population number varies from
each year
It is less expensive using dice and
Over simplifies
pictures instead of moths and breeding
facilities
It simplifies the process of natural
selection making it clearer and easier to
understand
ANALYSES
INFORMATION FROM
SECONDARY
SOURCES TO
PREPARE A CASE
STUDY TO SHOW
HOW AN
ENVIRONMENTAL
CHANGE CAN LEAD
TO CHANGES IN A
SPECIES

DESCRIBE USING
SPECIFIC EXAMPLES,
HOW THE THEORY OF
EVOLUTION IS
SUPPORTED BY THE
FOLLOWING AREAS
OF STUDY
BIOGEOGRAP
HY
COMPARATIV
E
EMBRYOLOGY
COMPARATIV
E ANATOMY
BIOCHEMIST
RY

Kangaroos
25 million years ago, the physical conditions in Australia ace changes, with
increased aridity causing a decrease in rainforests and an increase in open
woodlands and grasslands with poor-quality grasses. These changes have
altered the selecting pressure of kangaroos

Ancient kangaroos which were much smaller have evolved into the
modern-day red kangaroo

Larger in size

Eats grass using its high crested molar teeth

Reduction in numbers of toes and increase in toe length assist in


speed
DDT
Well known synthetic insecticide
First synthesised in 1874, insecticidal properties not discovered until 1939
Used in the second half of WWII to control malaria and typhus among civilians
and troops

Used by the allies to control the insect vectors of typhus nearly


eliminating the disease in parts of Europe

In the South Pacific, it was sprayed aerially for malaria and gangue
fever control
After the war, DDT was made available for use as an agricultural insecticide
Publication of the book Silent Spring led to DDT being banned in the US in
1972 due to its assumed side effects poisoning both wildlife and the
environment and were endangering human health
Malaria in Africa
When it was first introduced in WWII, DDT was very effective in reducing
malaria morbidity and mortality
However the program was halted sometime after and malaria rebounded to
600, 000 cases in 1968 and the first quarter of 1969
The country resumed DDT vector control but the mosquitoes had acquired
resistance in the interim, presumably because of the continual agricultural use
Resistance is largely due to agricultural use, in much greater quantities than required for
disease prevention
Darwin supported his theory of natural selection using fossil records and the geographical
distribution of species
Biogeography
The study of the distribution of patterns of different species
Investigation of both past and present distributions to show changes in
biodiversity over time
Biogeography attempts to work out the dispersal of organisms from their place
of origin, how the population changed over time and the processes involved in
either its survival or its extinction
Plate tectonics caused the joining and separation of land masses providing a
land bridge which allowed migration to new areas or caused populations to be
separated. Isolation and natural selection led to the evolution of new species
in separated areas
Example Australias separation from other land masses explains its diversity
in animals. This explains the proliferation of the Australian marsupials and the
presence in the region of the only two living monotremes the echidna and
platypus
Fossil
A fossil is any trace of remain of pre-existing life they may be whole

QUEEN LUU
BLUEPRINT OF LIFE
organisms, fragments of body parts, impressions made by the organism,
droppings or footprints
Fossilisation can occur in many different ways: Whole animals may be
preserved or when bones woods of shells are quickly covered by layers of
sediment (the living material is later replaced by minerals and a fossil replica
is produced)
Fossils are mostly found in sedimentary rocks produced in layers
The lowest sediments found in the bottom later must be the oldest, the
highest sediments closest to the surface must be the youngest
BY comparing the layers of sediment, the sequence from the very earliest life
to the present can be observed
Sedimentary rocks provide a record in their fossils of the history of life fossil
record
They show the history of life and when different groups emerged (simple
complex, marine aquatic)
Fossils how the evolution of the horse from a small animal, Hyracotherium
about the size of a fox terrier which lived 55 million years ago to the modern
horse, Equus.
Hyracotherium browsed on trees and had smaller teeth and 4 toes on each
front foot and 3 on each rear foot
The Equus is much larger, has larger teeth and one toe on each foot
Changes were due to environmental changes reduction of rainfall and
swampy area becoming dry grasslands
Comparative embryology
Study of embryo development
Early stages of embryos of many vertebrates appear very similar similar in
anatomy but the structures carry out different functions as they develop into
the organs of the body homology
Transitional form
Missing link that shows characteristics of two different groups
Transitional forms suggest a possible pathway of evolution when one group
evolves from another group
The evolution from ancient reptiles to mammals in particularly well
documented by a series of transition fossils they merge so closely that it
becomes difficult to distinguish whether it was a mammal-like-reptile or
reptile-like-mammal
Archaeopteryx

Similar to an extinct group of dinosaurs, theropods except had


feathers and a wish bone

The skeleton is not unlike that of a reptile, but feathers are undeniably
a characteristic of a bird

Provides telling evidence for the evolution of birds from an ancestral


dinosaur and suggests a common ancestry for birds and reptiles

Lobe-in-fish

A comparison of the skeleton of a lobe-fin fish and a primitive


amphibian reveals an extraordinary similarity

Lobe-fin fish had lungs, but in the amphibian larger ribs, pelvis and
limb bone shave evolved for support on land

Provides evidence for the evolution of amphibians from fish

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BLUEPRINT OF LIFE

PERFORM A FIRSTHAND INVESTIGATION


OR GATHER
INFORMATION FROM
SECONDARY
SOURCES (INCLUDING
PHOTOGRAPHS/DIAGR
AMS/MODELS) TO
OBSERVE, ANALYSE
AND COMPARE THE
STRUCTURE OF A
RANGE OF
VERTEBRATE
FORELIMBS

Comparative anatomy
Similar anatomy such as the pentadactyl limb
In the pentadactyl limb, the same basic skeleton structure has been adapted
for a number of uses ranking from running to grasping and flight due to
common ancestry homologous structures
Biochemistry
Proteins are made up of distinct amino acids linked in a specific sequence
The similarity of proteins in different organisms can be determined by
comparing the amino acid sequence in the proteins such as haemoglobin and
cytochrome c
Helps to establish the pathway in which biological evolution may have
occurred
Biogeography
The geographical distribution of organisms and fossils provide evidence for
evolution
When Darwin travelled the world in t=the beagle, he visited many islands and
continents
He noted South America, like other parts of the world has its own distinct
fauna and flora
The most likely explanation for distinctive organisms in different geographical
regions was that these organisms had come from ancestors within the region
and adapted to the condition there
The limb of every vertebrate, including humans, are based on an arrangement
of bones called the pentadactyl limb meaning five
Although they are similar structures, they are used in different ways referred
to as homologous structures
The fact that such a structure is present, strongly suggests that these
invertebrates shared a common ancestor whose descendant evolved in
different ways divergent evolution

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BLUEPRINT OF LIFE
USE AVAILABLE
EVIDENCE TO
ANALYSE, USING A
NAMES EXAMPLE,
HOW ADVANCES IN
TECHNOLOGY HAVE
CHANGES SCIENTIFIC
THINKING ABOUT
EVOLUTIONARY
RELATIONSHIPS

Biochemistry
Study of molecules and how they react in organisms
All living things contain the same basic organic compounds and similar cell
function through DNA and the production of enzymes
The degree of similarities in the molecular makeup of two organisms show the
closeness of their relationship and hence is an indication of the time distance
to a common ancestor -> organisms with a high degree of biochemical
similarities would have a recent common ancestors, while organisms with
many biochemical differences will have a distance common ancestor
Biochemistry has been used in the study of blood proteins e.g. haemoglobin
and antibody/antigen reactions when different blood types are mixed
DNA Hybridisation
Double stranded DNA are heated so that the nitrogenous base pairs in DNA
are broken to produce single strands of DNA
When these single strands cool, they reassociate into double strands is
single strands from different species mix, they will form a hybrid doublestranded DNA
There will be mismatches in these hybrid DNA strands the fewer the
mismatches the closer related they are
DNA hybridisation has shown that there are more similarities between
chimpanzees and humans than between chimpanzees and gorillas
Molecular clock can be sued to estimate the time of divergence of one species
from another they are calibrated against the fossil record

EXPLAIN HOW
DARWIN/WALLACES
THEORY OF
EVOLUTION BY
NATURAL SELECTION
AND ISOLATION
ACCOUNTS FOR
DIVERGENT
EVOLUTION AND
CONVERGENT
EVOLUTION

Adaptive radiation
As organism spreading into new habitats, over millions of years they evolve,
adapting to environments they inhabit
Following the mass extinction of the dinosaurs, mammals adapted to occupy
many vacant niches in ecosystems
Divergent evolving to be different
Divergent evolution occurs when different groups arise from a common
ancestor due to adaptive radiation
This occurs when species which are closely related, experience different
environments, due to isolation and as a result different characteristics would
be selected. Eventually over many generations, the populations become so
different that when physical barriers are removed, the different populations no
longer interbred.

QUEEN LUU
BLUEPRINT OF LIFE

USE AVAILABLE
EVIDENCE TO
ANALYSE, USING A
NAMED EXAMPLE,
HOW ADVANCES IN
TECHNOLOGY HAVE
CHANGED SCIENTIFIC
THINKING ABOUT
EVOLUTIONARY
RELATIONSHIPS

The species have evolved and now appear different


Physical barriers in Australia include mountain ranges, deserts and water
Example Ancestral Kangaroo tree kangaroo, wallaby, and rat kangaroo
Convergent evolving to be similar
This occurs when two relatively unrelated species develop similar structures,
physiological or behaviour in response to similar selective pressures from
similar environment
As a population of organisms radiates into different habitats, the
characteristics that allow organisms to compete, survive and reproduce are
selected by natural selection and passed onto the next generation
As a result unrelated organisms may evolve similar characteristics because
they inhabit similar niches
For example dolphin (mammal) and shark (cartilaginous fish) , looking
superficially similar, although reproduction, body temperature control etc. are
quite different
Finches of the Galapagos Islands are historically important as they were used
by Charles Darwin as an example of adaptive radiation. Darwin suggests that
the finches arose from one ancestral species that probably came from the
mainland/ Over time, natural selection and isolation led to the evolution of the
different finch species e.g. tree finches, ground-dwelling finches and insect
eaters
Modification to Darwins Theory Punctuated Equilibrium
Darwin proposed that there is a slight change in the population each
generation so that over time these changed lead to the evolution of a new
species process called Gradualism
In 1972, Niles Eldredge and Stephen Jay Gould published a paper titled
Punctuated Equilibrium that suggested that smooth transitional sequences
are not as common as Darwins theory and that species remain unchanged for
long lengths of time, a period of stasis, to be replaced quickly by a new
species which is a variation of the old one
New species seems to appear suddenly un the fossil record, survive
for about 510 million years on average and then disappear. This
suggests that species may evolve rapidly, over 50, 000- 100, 000
years, rather than over millions of years
Gradualism is more common among the microscopic protistans while more
complex organisms show punctuated equilibrium
As technology advances and understanding increases, new evidence that is
gathered may further support a view or it may refute that view
Advances in technology has changed scientific thinking about the evolutionary
relationships between humans, gorillas, chimpanzees and orang-utans
Darwin used evidence based on comparative anatomy, embryology and
behaviour to support the idea of human evolution subsequent fossil
discoveries supported his view
Advances in technology are now allowing biologists to use a growing number
of ways to analyse evolutionary relationships and infer ancestry. Data obtained
by advanced molecular technology (including amino acid sequencing, DNA
hybridisation and DNA sequencing) have revealed new biochemical evidence
Apes and Humans
In 1860s, Ernest Haeckl classified orang-utans, gorillas and chimpanzees in
one family (Pongidae) and placed humans in a separate family (Hominidae)
His classification was based on structural anatomy of the hind-limb, knuckle
walking and the enamel on their teeth These studies shows that gorillas and
chimpanzees were more closely related to each other than to humans of
orang-utans
In the 1960s-70s amino acid sequencing was used proteins cytochrome c
and haemoglobin revealed identical sequences in chimpanzees and humans,
but one amino acid difference between these species and gorillas
Use of DNA sequencing and DNA hybridisation confirmed:

African apes (gorillas and chimpanzees) are more closely related to


humans than to orang-utans, which diverged much earlier

Humans and chimpanzees have the smallest difference between the


base sequence in their DNA (1.6-2.4%) while the DNA of humans and
gorillas shown slightly more variation

Greatest difference occurs when comparing these humans and gorillas


with orang-utans
Data gathered from these advanced molecular phylogenetic tree that
represent humans and chimpanzees as the two groups to have diverges most

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BLUEPRINT OF LIFE
-

recently from a common ancestor


Results have therefore changed scientific thinking about evolutionary
relationships, leading to the development of an alternate way of classifying
these primates

Identity
technology

Identify
scientific
understanding

Describe advances in
technology
Then
Observable evidence
Evidence based on structural
anatomy e.g. hind-limb, knuckle
walking, enamel on teeth
Identify and describe advances in
understanding
Then
Evidence based on structural
anatomy showed that gorillas
and chimpanzees were more
closely related to each other
than to humans or organ-tans

Technology

Scientific
understanding

ANALYSE
INFORMATION FROM
SECONDARY
SOURCES ON THE
HISTORICAL
DEVELOPMENT OF
THEORIES OF
EVOLUTION AND USE
AVAILABLE EVIDENCE
TO ASSESS SOCIAL

Now
Amino acid sequencing of
proteins such as cytochrome c
and haemoglobin revealing
amino acid differences between
species

Now
Amino acid sequencing revealed
identical sequences in
chimpanzees and humans but
one amino acid difference
between there species and
gorillas

Change in direction of nature of thinking


As a result of technological advances from evidence based
on structural anatomy (DNA sequencing and DNA
hybridisation) we can now see chimpanzees and humans
have the smallest difference in DNA (1.6-2.4%), thus must
have diverged most recently from a common ancestor. This
refuted the view that gorillas and chimpanzees were more
closely related to each other than to humans.
This had thus allowed biologists to use a growing number of
ways to analyse evolutionary relationships and infer
ancestry leading to the establishment of a new
phylogenetic tree that represents humans and chimpanzees
as the two groups to have most recently diverges from a
common ancestor.

Jean Baptiste Lamarck


In early 1800s, Lamarck proposed a mechanism or evolution
These ideas challenged the comfortable idea at the time that species were
created independently and did not change over time
Lamarcks mechanism for evolution was by the inheritance of acquired
characteristics based on use and disuse of the body parts
His theory was rejected on the grounds that acquired characteristics cannot be
inherited
Despite the rejection of his theory, Lamarck challenging the social and
religious order of time times opened the way for new ideas to be put forward,

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BLUEPRINT OF LIFE
AND POLITICAL
INFLUENCES ON
THESE
DEVELOPMENTS

the end result which is the currently accepted theory of evolution by natural
selection proposed by Charles Darwin in the late 19th century
Darwin
-

On his journey on the Beagle, Darwin collected an enormous number of


specimens which used as evidence in his theory- his well-documented
observations included those from Australia and the Galapagos Islands
He spend more than 20 years, questioning their origins, comparing their
variations, experimenting and writing up the theory
He kept his theory to himself he was aware of the uproar such ideas would
cause among theologians at the time

Wallace
-

He had read books and papers published by numerous scientists of the time
and his travels included trips to South America and to the Malay Islands
In one of his trips, he wrote to Darwin proposing his ideas of natural selection
which were remarkably similar to one that Darwin had formulated
independently 12 years previously but never published due to the awareness
of social and political upheaval it would cause
This prompted Darwin to present his ideas of evolution by natural selection
Darwin felt the urgent need to complete his book, On the Origin of Species,
which was published in 1859, detailing the evidence of his findings and the
formulation of his theory of evolution by natural selection

Gregor Mendels experiments helped advance out knowledge of the inheritance of


characteristics
Genetics is the study of heredity and heredity in the transfer of characteristics from one generation to the next
KEY TERMS
DNA DNA is a long, self-replicating helical molecule containing information coded as paired bases A, T, G and C
Chromosomes A chromosome is a length of coiled DNA that is found in the nucleus of cells. The cells of any
species of organism contain the same number of pair chromosomes.
Homologous pair - Each cell nucleus contains a pair of chromosomes of each type. This pair is called a homologous
pair. Humans have 46 chromosomes 22 homologous pairs and a pair of sex (XX or XY) chromosomes (homo
same, logous pair)
Genotype The genotype of an organism is a description of its genetic makeup, that is, a list of the genes (and
allele variations) that it contains.
Phenotype The genotypes of an organism is expressed physically as its phenotype. E.g. the genotype of blood
type alleles ii produces a phenotype of blood group O.
Homozygous If both genes inherited from both parents are the same allele for a particular characteristic, the
individual is called homozygous or pure breeding for that condition - homozygous recessive or homozygous
dominant.
Heterozygous If the allele pair is different for both genes on the pair of chromosomes
Diploid Each individual has a pair of genes for each characteristic in each somatic cell nucleus. Each gene is
carried in the same position on each of the homologous chromosomes. One chromosome of each pair has maternal
origin, the other paternal. These cells are produced by mitosis cell division.
Haploid- Only the sex cells of an organism are haploid, that is, these cells contain only one chromosome of each
homologous pair. These cells are produced by meiosis cell division. The haploid number is denoted as N, which
for humans N=23
Genes and
Mutations
-

chromosomes
Genes are situated along chromosomes
In a double stranded chromosome, each gene is represented twice this allows for division and mitosis
Chromosomes occur in pairs corresponding pairs are known as homologous chromosomes
Mutations are a permanent change in genetic information
May be caused due to exposure to UV, viruses, copying errors etc.
The change in the genetic code (e.g. change to base pair sequence) means there is a new allele for a
particular gene
A change in the DNA code will mean there will be in a change in the polypeptide produced new
alleles produced

Law of segregation
For each characteristic there are two factors which segregate, with one factor in each reproductive cell, and then
recombine at fertilisation. The characteristics do not blend; one dominates over the other
Law of independent assortment
Pairs of factors segregate independently of other pairs of factors when forming reproductive cells

10

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Dominant
Recessive
BLUEPRINT
OF LIFE
Round seeds
Wrinkled seeds
Yellow seeds
Green seeds
Humans
Smooth pod
Constricted pod
46 chromosomes
Green pod
Yellow pod
22 pairs of autosomes (non-sex
chromosomes) White
and 1 flower
pair of sex chromosomes
Red flower
The chromosomes number
is said to be diploid
(2n)
Tall46stem
Short
stem
Gametes (sperm or egg cells)
contain
23 chromosomes
(i.e. one of each of the pair). The chromosome
Terminal
flower
Axial flower
number 23 is said to be a haploid (1n)
When 2 gametes combine at fertilisation, the offspring inherits chromosomes of each homologous pair
from each parent
OUTLINE THE
Gregor Mendel
EXPERIMENTS
The founder of the modern study of genetics was an Australian monk, Gregor
CARRIED OUT BY
Mendel, who lived in the 19th century
GREGOR MENDEL
He started with many strains and bred them for several years to find easily
recognisable traits that bred them
The plants grew relatively fast and he was able to collect quantitative and
qualitative data
His experiment began in 1856 and his results were published in 1866
Mendels method
He studied 7 characteristics of peas

DESCRIBE THE
ASPECTS OF THE
EXPERIMENTAL
TECHNIQUES USED
BY MENDEL THAT LED
TO HIS SUCCESS

Before he began his experiment, he selectively bred plants, each for 2 years to
produce only pure breeding offspring
He crossed pea plants by transferring pollen from one plant to another using a
brush preventing random pollination stamen removed from one flower and
used to brush of the anther of another flower
Mendel crossed pure breeding round seeds with pure breeding wrinkled seeds
and found that the first generation (F1) were all round seeds
F1 all had the same characteristic one characteristic of the parent but not a
blend
Mendel then allowed the F1 generation to interbreed to obtain the F2
generation, he found characteristics from the parent of the P1 emerging in the
F2 constantly in a ratio of 3:1
Mendel repeated his experiment many times in large number of crosses over a
span of 10 years

Mendels conclusion
Concluded by the law of segregation
An organisms characteristics are determined by factors (genes) that
occur in pairs
In a sec cell (gamete) only one factor is present
During fertilisation, the factors pair up again, they dont blend
He concluded that there were two factors for a characteristics dominate or
recessive
Hence determined the monohybrid ratio of 3:1 dominance
Mendels investigation is considered successful because it consistently showed
the re-emergence of the recessive trait in the F2 in a 3:1 ratio
From his he was able to determine that the parents each contribute a factor
(gene or allele) to the offspring
The contributed factor combined to form the phenotype of the offspring

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Technique
Bred peas for many
generations to produce pure
breeding stock
Used a fast growing species

DESCRIBE OUTCOMES
OF MONOHYBRID
CROSSES INVOLVING
SIMPLE DOMINANCE
USING MENDELS
EXPERIMENT

SOLVE PROBLEMS
INVOLVING
MONOHYBRID
CROSSES USING
PUNNETT SQUARES
OR OTHER
APPROPRIATE
TECHNIQUES
PROCESS
INFORMATION FROM
SECONDARY
SOURCES TO
DESCRIBE AN
EXAMPLE OF
HYBRIDISATION
WITHIN A SPECIES
AND EXPLAIN THE
PURPOSE OF THIS
HYBRIDISATION

DISTINGUISH
BETWEEN
HOMOZYGOUS AND
HETEROZYGOUS
GENOTYPES IN
MONOHYBRIDS
CROSSES
DISTINGUISH
BETWEEN THE TERMS
ALLELE AND GENE,

Contribution
Making his investigation valid by knowing the nature of
the potential stock
He was able to get quick and many results improving
reliability
Improving the accuracy of his experiment

Chose easily distinguishable


traits
Controlled the pollination of
Ensured validity he knew the identity/nature of the
the crosses
parents
Used mathematical, statistical
Improved reliability
analysis
Monohybrid focussing on only one characteristic as a time
In a monohybrid cross there are two identical heterozygous individuals crossed
Dihybrid focussing on two characteristics at a time
In a Dihybrid there are two different individuals crossed, whom may be homozygous or
heterozygous
When genetic studies focuses on only one characteristic at a time we can call
them monohybrid studies or crosses (e.g. pure breeding of tall and short peas,
tall being the dominant trait)
F1 possess all of the same trait i.e. the dominant trait
F2 has a 3:1 ratio as some of the parents from the F1 generation although
displayed the trait of tall peas may have carried a recessive short pea allele

A hybrid is the offspring of two species of the same genus of two varieties of the same
species
In many instances the hybrid has hybrid vigour with increased vitality and a
better chance of survival than either parent stock
Labradoodle
Cross between the Labrador Retriever and the standard or miniature Poodle
Parent breeds are both amongst the worlds most intelligent dog breeds
They are generally friendly, energetic and good with family and children
The hybrid is an allergen-free guide dog
It combine the low-shredding (odour free and hypoallergenic) coat of the
Poodle with the gentleness, friendliness and trainability of the Labrador to
provide a guide dog suitable for people with allergies to fur and dander
Puppies do not consistently have predictable characteristics while many
Labradoodles display desired traits, their appearance and behavioural
characteristics remain to come extent unpredictable
Homozygous genotype when the pair consist of two of the same alleles (e.g. two
recessive allele for shortness tt or two dominant alleles for tallness TT)
Heterozygous genotype when the pair consist of a dominant and recessive allele (e.g. a
receive short and dominant tall allele Tt will only show the dominate trait in the
phenotype

Gene a section of DNA coding for proteins that expresses itself as the phenotype of an
organism. Genes code for the production of particular polypeptides (protein). A
chromosome typically contains thousands of genes

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USING EXAMPLES
For example a small portion at the bottom of the chromosome may code for eye colour
Allele An allele is an alternate for a particular trait e.g. there are two allele for height in
pea plants tall (T) or short (t) alternate form of a gene
For example, the gene that produces antigen markers on the surface of red blood cells has
three variants A, B and I. Different combinations of these alleles produce different blood
groups. The haploid human genome contains around 30, 000 genes. Only 6, 000 or so
have different allele variations. 2 alleles per gene (1 from mother, 1 from father)
EXPLAIN THE
RELATIONSHIP
BETWEEN DOMINANT
AND RECESSIVE
ALLELES AND
PHENOTYPES USING
EXAMPLES

Dominant allele- The dominant allele is expressed in the phenotype whenever present as
the dominant form of that allele
Recessive allele The recessive allele is only expressed when there is no dominant allele
present. The recessive characteristics is only seen in the phenotype when in the
homozygous recessive condition
-

OUTLINE THE
REASONS WHY THE
IMPORTANCE OF
MENDELS WORK
WAS NOT
RECOGNISED UNTIL
SOMETIME AFTER IT
WAS PUBLISHED

Phenotype is the physical appearance, e.g. white or red flowers


R being the dominant allele for red plants, and r, being the recessive for
white plants If the genes are RR or Rr then the plant will turn out red. Only
if two recessive alleles rr is present, will the plant be white
Therefore based on the dominance and recessiveness of alleles, the phenotype
is affected
Mendel published his findings in the 1870s and died in the 1880s. The
significance of his work was not recognised until 1902 through the work of
Walter Sutton
Mendel lived and worked in relative isolation in part of Eastern Europe
He was part of the religious community rather than scientific community
He did not have a great network of other scientists to collaborate with and
share results with instead he only presented his ideas amongst a small, local
scientific meeting in Austria in 1
865. His ideas were not widely distinguished or recognised as significants
A the time, Darwins theory of evolution was the focus of most biology
attention rather than differences within a species

PERFORM AN
INVESTIGATION TO
CONSTRUCT
PEDIGREE OR FAMILY
TREES, TRACE THE
INHERITANCE OF
SELECTED
CHARACTERISTICS
AND DISCUSS THEIR
CURRENT USE

Patterns to
-

Pedigrees are family trees


recognise:
If two non-affected parents have an affected child, then the trait is recessive
If two affected parents, have a non-affected child, then the trait is dominant
Only recessive traits can skip generations
Sex linked is when the condition only occurs in one gender

Colour-blindness and haemophilia are conditions that only appear in


the X chromosome. Since males only have one X chromosome, if that
X happens to carry the condition, the individual will automatically
inherit the condition. Females however have two X chromosomes, so if
one of the X carries it and one doesnt, the condition is not inherited
Recessive traits carried by the mother has a 50/50 chance of being passed on
to the son (women are carriers)
Since Males have XX chromosomes and females have XY chromosomes,
males have a greater chance of inheriting conditions (X chromosomes are
longer)

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Chromosomal structure provides the key to inheritance


OUTLINE THE ROLES
OF SUTTON AND
BOVERI IN
IDENTIFYING THE
IMPORTANCE OF
CHROMOSOMES

DESCRIBE THE
CHEMICAL NATURE
OF CHROMOSOMES
AND GENES
IDENTIFY THAT DNA
IS A DOUBLESTRANDED
MOLECULE TWISTED
INTO A HELIX WITH
EACH STRAND
COMPRISED OF A
SUGAR-PHOSPHATE
BACKBONE AND
ATTACHED BASES
ADENINE, THYMINE,
CYTOSINE AND
GUANINE
CONNECTED TO A
COMPLEMENTARY
STRAND BY PAIRING
THE BASES

Together Sutton and Boveri found that the behaviour of chromosomes and the inheritance
of genes were similar.
Firstly Mendel said inheritance was caused by two factors inside each cell.
Boveri found that the chromosome is found in the nucleus and not the
cytoplasm
Sutton found that chromosomes in the nucleus causes inheritance
Theodor Boveri (German)
He worked on sea urchins
Concluded that male sperm nuclei and female egg nuclei was equivalent in
the amount of hereditary information, each having a half set (haploid number)
of chromosomes.
He showed that a full complement was required for the normal development of
an organism and that chromosomes were not all the same sea urchins
developed to be abnormal if they had more or less diploid chromosomes
Through his experiments, Boveri showed that hereditary factors must be
somehow related to the nucleus - At the time it was thought that all
chromosomes were equal, he showed that each chromosomes had different
qualities
Walter Sutton (American)
Worked with grasshoppers
From his experiments he conclude that chromosomes, duplicated and divided
but remain as a distinct structure
Concluded that chromosomes were the carriers of hereditary units
He noted Mendels law of segregation (i.e. that every individual carries pairs of
factors for each trait and the number that the member of this pair separated
during the formation of gametes) of alleles could be explained by the
behaviour of chromosomes during meiosis
He explained not all factors followed Mendels law because they were located
on the same chromosome and were not independently assorted during
meiosis
- In 1902 he suggested genes where in chromosomes
Each chromosome is made up of 60% protein and 40% DNA
Chromosomes are rod shaped structures that contains tightly packed DNA
molecules (coiled around a protein core)
A gene is a section of DNA on a chromosome made up of a particular
sequence of bases
Different genes are different lengths
DNA (deoxyribose nucleic acid)
Carries genetic information from one generation to the next
1944 - Oswald Avery demonstrated that genes were made of DNA
1952 - Rosalind Franklin and Maurice Wilkins showed that the DNA molecule was
helical using x-ray diffraction crystallography
1953 - James Watson and Francis Crick proposed the double helix structure
The basic unit of a DNA is the nucleotide - consists of a sugar(deoxyribose) , a
phosphate and one of four nitrogenous bases - either adenine (A), guanine (G),
cytosine (C) or thymine (T) (A and T, G and C)
Nucleotides are joined together to form polynucleotides
When two polynucleotide chians line up together, the bases attach to each other
like the rungs of a ladder - ladder like structure, the sides made up of alternating
sugar and phosphate molecules and the runs
consist of
paired nitrogenous bases
Phosphate links the sugars to one
another
Makes up the sides of the ladder
Nitrogen bases bonded together by
hydrogen bonds
Sequence of the nitrogen bases make
up
the code

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EXPLAIN THE
RELATIONSHIP
BETWEEN THE
STRUCTURE AND
BEHAVIOURS OR
CHROMOSOMES
DURING MEIOSIS AND
THE INHERITANCE OF
GENES

Adenine and Guanine are both purines (single strands)


Thymine and Cytosine are both pyrimidines (double strand)
Purines always pair with pyrimidines, the DNA strand will always be constant in
length, with minor and major grooves

Meiosis
Special type of cell division concerned with producing sex cells (gametes) for the
purpose of sexual reproduction
Gametes are produced in the reproductive organ of males and females come
together to produce a zygote
In mitosis the original parent cell is genetically identical to the daughter cells while
in meiosis the daughter cells are not identical to the parents - with the number of
chromosomes
Gametes only have half the number of chromosomes and so combine with another
gamete to form a full set of chromosomes for reproduction
Genetic mistakes/mutations occurring here will be passed on to the offspring
Stages
Meiosis 1
Prophase
The chromatids shorten and thicken, becoming visible under a microscope
The 2 homologous pairs come near each other - each homologous pairs
containing 2 chromatids therefore actually 4 aligned with each other
The combination of four chromatids is called a tetrad and the coming
together is the process called synapsis
Process of crossing over occurs segments of DNA from one chromatid
pass to another resulting in genetically new chromatids
Metaphase
Tetrads align on the equatorial plate
Centromeres attach to spindle fibres, which extend from the poles of the
cell
Anaphase - Homologous pairs separate 23 chromosomes to each pole
Telophase - Nucleolus reorganises and cytoplasmic division into two cells takes
place
Meiosis 2
Prophase - Each chromosome containing two chromatids attached by the
centromere move to the equatorial plate
Metaphase - 23 chromatid pairs gather at the centre prior to separation

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-

PROCESS
INFORMATION FROM
SECONDARY
SOURCES TO
CONSTRUCT A MODEL
THAT DEMONSTRATES
MEIOSIS AND THE
PROCESSES OF
CROSSING OVER,
SEGREGATION OF
CHROMOSOMES AND
THE PRODUCTION OF
HAPLOID GAMETE

Anaphase
The centromere divides (46 chromatids become 46 chromosomes)
Spindle fibres move one chromosome from each pair to one pole of the
cell
Telophase - Nuclear envelope develops, the nucleus reappears and the cells
undergo cytokinesis

Aim: to construct a model that demonstrates meiosis and the process of crossing over,
segregation of chromosomes and the production of haploid gametes.
Method:
1. Prepare many copies of two pairs of homologous chromosomes (such as below)
on paper with different colours.

2.

Cut out both pairs of homologous chromosomes and glue them down to form a
parent cell.
3. Cut two of each of the chromosome strands out and glue them down so that
identical chromosome strands are together (Chromosomes doubling)
4. For each pair of chromosomes, cut one of the strands as indicated on the diagram
5. For each homologous pair, swap the parts that are cut up so that the
chromosomes are now: QCa and qcA and MT and mt (Crossing over)
6. Randomly group a pair of chromosome 1 and a pair of chromosome 2 (random
segregation of double stranded chromosomes)
7. Randomly group a single strand of chromosome 1 and a single strand of
chromosome 2 (random segregation of single stranded chromosomes) to produce
haploid gametes
Discussion
Advantages
Comparisons between meiosis with and
without crossing over can be made to see

Disadvantages
It cannot be modelled to scale

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the advantages and disadvantages of
each
The likelihood of a gamete carrying a
certain disease or characteristic can be
calculated and applied to reality, in
breeding programs for example
It shows a simple representation of
meiosis and crossing over to
encourage easy understanding
It is a visual representation that can be
easier for some people to
understand

It may be over-simplified and so may not


show some important details
The movement and behaviour of the
chromosomes cannot be shown
It can be very long and complicated, when
considering human cells for example,,
which have 46 chromosomes

The modelling showed:


That when double stranded chromosomes crossed over, the result was different
allele combinations on chromosomes
Which double stranded chromosomes goes to which daughter cell is a random
process
Which single chromosome from each daughter cell goes to which gamete cell is a
random process
Crossing over produce 4x the genetic variability in gamete cells compared to no
crossing over

EXPLAIN THE ROLE


OF GAMETE
FORMATION AND
SEXUAL
REPRODUCTION IN
VARIABILITY OF
OFFSPRING

DESCRIBE THE
INHERITANCE OF SEXLINKED GENES, AND
ALLELES THAT
EXHIBIT CODOMINANCE AND
EXPLAIN WHY THESE
DO NOT PRODUCE
SIMPLE MENDELIAN
RATIOS

Conclusion: Chromosome doubling, crossing over of alleles of genes (i.e. the exchange of
parts of chromosomes) and the random movement of chromosomes to daughter cells and
to gamete cells all contribute to the great genetic variability in gamete cells (i.e. ovum
and sperm)
Sexual reproduction
Sexual reproductive leads to greater variability than asexual reproduction because it
combines genetic information from two different organisms. This variability arises because
of:
Crossing over: the exchange of genes between chromosome pairs. This causes the
combination of alleles on the chromosomes in the gametes to be different from
the alleles chromosome of the parent
Random segregation: genes on different chromosomes sort independently. They
can line up in the middle of the cell in many different ways. This produces gene
combination in gametes different from parents (2 to the power of 23)
Random fertilisation: male and female gametes (sex cells) combine randomly.
Many different combinations are possible so this causes variation

Co-dominance
In the case, two alleles are not dominant of each other both expressed in each
others present
NO blending but both can be seen
Thus crossing co-dominant traits do not give the usual Mendelian ratio (3:1)
E.g. Roan cattle
If a type of cattle has the gene for red and white, it would not make a pink
cow but the airs on the cow would be both red and white making it roan
The cross between the two roan cows of the F1 generation does not give
the ratio 3:1 because a heterozygous animal does not give the dominant
trait, as would happen in simple dominant-recessive cases. A
heterozygous animal gives the roan colour, which results in the 1:2:1
ratio

Sex linked characteristics

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-

DESCRIBE THE WORK


OF MORGAN THAT
LED TO THE
UNDERSTANDING OF
SEX LINKAGE

SOLVE PROBLEMS
INVOLVING CODOMINANCE AND SEX
LINKAGE
EXPLAIN THE
RELATIONSHIP
BETWEEN
HOMOZYGOUS AND
HETEROZYGOUS
GENOTYPES AND THE
RESULTING
PHENOTYPES IN
EXAMPLES OF CODOMINANCE

The sex of an individual is determined by a pair of chromosomes called the sex


chromosomes, in humans, it is the 23rd pair contains all the information for
sexual reproduction
Females have two X chromosomes - XX thus homozygous
If there is a deficiency, it is almost always on the X chromosome. Since females
have an XX chromosome, it will have a second normal gene to fall back on if one is
deficient
Males have an X and Y chromosome XY
In males, a deficiency in a non-sexual gene on the X chromosome may be
disastrous
The X chromosome is longer than the Y chromosome, therefore some
characteristics are only coded for by the X chromosome
E.g. Haemophilia and colour blindness commonly occurs in males while women
are carrier

The gene controlling the synthesis of an important factor that


contributes towards blood clotting is situated on the X chromosome. In
males where this gene is deficient, an insufficient amount of bloodclotting factor is made so bleeding is a hazardous situation
Females are usually carriers of the defective gene. It is very rare for two defective
genes to be present in a female. Female carriers have a 50% chance of passing on
the gene for haemophilia to their sons
Organism used and suitability
The fruit fly, Drosophila melanogaster
Small flies (less than 3mm long) requiring little space and can be maintained
in small glass containers
They breed easily in captivity females lay up to 200 eggs at a time
The two sexes are easily distinguishable
Have a small number of chromosomes (2n=8) meaning their chromosomes
can be readily examined and identified
Experiment
Morgan discovered a male fruit fly with white eyes rather than the normal red
eyes
He crossed the white eyed male with a pure breeding red-eyed female -> all
offspring had red eyes Morgan concluded that red eye colour was dominant
to white eye colour
He then crossed two of the offspring 3 red eyes: 1 white eye all the white
eyes were males
- He carried out a reciprocal mating using pure breeding white-eyed females
and a pure breeding red eyed male found equal numbers of red-eyed
females and white-eyed males

Homozygous genotype: a gene locus with two of the same allele


Heterozygous genotype: a gene locus with different alleles
In simple dominance cases, if an organism is homozygous dominant, the
phenotype is obviously that of the dominant allele. If it was a homozygous
recessive, then the phenotype would be that of the recessive allele
If the organism was heterozygous, then the dominant allele would be the
phenotype of the organism, as the dominant allele would preside over the
recessive one
- In the case of co-dominance, heterozygous organisms would have both
phenotypes expressed at the same time no blending

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OUTLINE WAYS IN
WHICH THE
ENVIRONMENT MAY
AFFECT THE
EXPRESSION OF A
GENE IN AN
INDIVIDUAL

IDENTIFY DATA
SOURCES AND
PERFORM A FIRSTHAND INVESTIGATION
TO DEMONSTRATE HE
EFFECT OF
ENVIRONMENT AND
PHENOTYPE

Genes + environment = phenotype


The environment can control to what extent a genotype is expressed
The development of an organism is the result of a subtle and complex
interaction between its heredity and environment
Examples:
Two people with the same genetic inheritance for tallness may grow to
different heights because of differences in nutrition and health
Hydrangeas: The flowers colour is controlled by pigments known as
anthocyanins. These are affected by pH. If the hydrangeas grow in
acidic environments, the flowers will be bright blue. In alkaline
environment, the flowers are pale, pink or off white
Sandaggers Wrasse: Fish live in groups consisting of a single male and
attendant females and juveniles. In the presence of a male, all juvenile
fish grow into females (due to certain chemicals released by the
male). When the male dies, the dominant female undergoes
physiological changes to become the male of the group.
American alligator: Sex is determined by the temperature hey were
incubated at during embryonic development. Eggs incubated at cooler
temperatures turn into females, while warmer eggs turn into males.
Aim: To demonstrate the effect of environment on phenotype (i.e. how a liberal supply of
water and no water will affect the growth of geranium plant?
Method:
1. Using secateurs cut 12, 10 cm cuttings from a single plant. Remove leaf growth.
2. Place each putting in a pot with the same and equal amounts of potting mix
3. Randomise the pots into 2 groups of 6 by tossing a coin (i.e. heads = water, tails =
no water)
4. Leave plants for the trial period (6 weeks) liberally watering one group and
depriving the other group of water
Results
Non watered group has 2/6 sprouting new growth, 5 leaves average 3.5mm
diameter
Watered group has 3/6 sprouted new growth, 11 leaves 27mm average
diameter
Discussion
Independent variable amount of water supplied to the plant
Dependent variable Growth of plant (measured in no, of leaves and diameter
of leaves)
Controlled variables equal amounts of sunlight, relative humidity, same
potting mix, same pot size, cuttings taken from the same plant, cuttings of
equal length
Validity The results were valid because it clearly addressed the aim. Since all
the cuttings were taken from the same plant this ensures that the differences
in growth will all be due to the treatment (i.e. amount of water supplied rather
than any differences in genotype
Reliability (accuracy/precision) We used a number of cuttings for each
treatment and were consistent with the controlled variables kept in the
same environment through the trial period; the only factor being altered was
the independent variable. By doing 6 repetitions for each treatment, we were
able to increase the accuracy of our results.
Species suitability Germanium plants are hardy and easy to propagate from
cuttings/ Cuttings taken from the plant with be genetically identical to one
another, hence increasing the validity of the trial differences in phenotype
cannot be attributed to genotype
Improvement The experiment can be improved by carrying out larger
repetitions and extending the trial period so that more distinct measurements
and results can be obtained
Conclusion Hence the experiment demonstrated the effect of environment on the
phenotype of a species. The germanium plant, genetically identical grown in different

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environments resulted in different rates of growth (i.e. those supplied with water grew
better)

The structure of DNA can be changed and such changes may be reflected in the phenotype of
the affected organism
DESCRIBE THE
PROCESS OF DNA
REPLICATION AND
EXPLAIN ITS
SIGNIFICANCE

Replication
The two strands of the DNA double helix unwind and separate a section at a
time along the chromosome exposing portions of the nucleotide base
sequence
It is unwound by an enzyme called helicase
These parent strands will form the template for synthesis of complementary
strand
Within the nucleus are stockpiles of free nucleotides which pair with the
exposed bases with the help of another group of enzymes (catalysed by DNA
polymerase).
The sequence of bases in the daughter strands are determined by the
sequence of bases on the parent strands. The resulting new strands are
identical to the original strands
The leading strand is built as a continuous strand
The lagging strand is built by linking DNA fragments (called Ozizaki fragments)
together

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OUTLINE, USING A
SIMPLE MODEL, THE
PROCESS BY WHICH
DNA CONTROLS THE
PRODUCTION ON
POLYPEPTIDES

Significance
Is that identical copies of genes can be made, and hence genetic information
can be passed on to offspring
DNA replication ensures that gamete cells produced through meiosis each
contain one of each chromosome and therefore one of each gene. It also
ensures that the daughter cells produced through mitosis each contain a full
complement (i.e. 2 of each) of chromosomes and therefore two of each gene
o Mitosis (producing new cells with all the necessary genetic
information) is needed for growth of an organism, and repair
o Meiosis is needed for sexual reproduction. Self-replication is a
necessary pre-requisite of life
Proteins are large molecules that consist of tens or hundreds of amino acids.
There are twenty different types of amino acids found in proteins such as alanine,
cysteine, lysine and serine.
Each protein has a unique number and arrangement of amino acids
Genes are made of DNA and each gene has a characteristic sequence of
nucleotides. It is this sequence of base pairs that makes up the genetic
instructions.
How a gene makes a polypeptide:
Transcription (within the cell nucleus):
o Transcription is the process by which the code containe din the DNA
molecule is transcribed (rewritten) into a mRNA molecule
o A part of the DNA that corresponds to a gene unwinds
o One strand of the unwound DNA acts as a template, upon which a chain of
nucleotides form this chain is called messenger ribonucleic acid (mRNA)
the sugar in mRNA is ribose (not deoxyribose)
the four bases in mRNA are adenine, uracil (instead of thymine),
cytosine and guanine
o The enzyme that directly controls the proves is RNA Polymerase
DNA reforms
From nucleus to the ribosomes in the cell cytoplasm:
o Amino acids needed for protein synthesis are transported to ribosomes by
transfer RNA (tRNA)
o mRNA moves to the ribosomes
Translation (on the ribosomes):
o Moving along the mRNA molecule, each triplet of bases (codon) codes for
a specific amino acid
o
Each tRNA with its attach amino acid binds its anticodon to the
corresponding codon of bases on the mRNA strand
o A sequence or chain of amino acids is formed
o Newly form polypeptide is released into the cells cytoplasm
-

Codon: group of three bases on an mRNA molecule that code for a specific amino
acid
tRNA: a molecule with an amino acid at one end and an anticodon at the other
that is used in protein synthesis
mRNA: a form of RNA that is transcribed from a strand of DNA and translated into
a protein sequence at a cell ribosome
RNA: a nucleic acid, which contains the sugar ribose that is found in living cells
A protein is made up of one or more polypeptides.
A polypeptide is chain of many amino acids.

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EXPLAIN THE
RELATIONSHIP
BETWEEN PROTEINS
AND POLYPEPTIDES
EXPLAIN HOW
MUTATIONS IN DNA
MAY LEAD TO THE
GENERATION OF NEW
ALLELE

DISCUSS EVIDENCE
FOR THE MUTAGENIC
NATURE OF
RADIATION

Polypeptides is a single chain of amino acids joined by peptide bonds


o Many proteins are made up of more than one polypeptide
Polypeptide chain forms primary structure
Folding/arrangement of polypeptide chain forms secondary structures
Joining of multiple polypeptide forma quaternary structure, makes a complete
protein
Mutation: is a change in DNA. It is a change in the DNA information on a chromosome.
A mutation may be neutral and have no observable effect on the organism, it may
be harmful and decrease the lifespan of the organism or it may be beneficial,
giving it an evolutionary advantage over other individuals in the population
Mutations may occur spontaneously or randomly or can be induced by mutagens
(environmental factors) or chemical agents (benzene, Agent Orange).
A mutation can be:
o a substitution of a base or bases
o
a deletion of a base or bases (omission)
o an insertion of a base of bases (addition)
Point mutation changes the base sequence of a single gene and may form a new
allele. When one base is replaced by another nitrogenous base which in turn
changes the mRNA, Since the code on the mRNA is translated into amino acids,
the activity of the cell and the protein it produces will be affected
Chromosome mutation a change in the number of chromosomes or a
rearrangement in the structure of a chromosome. Ordinarily people have 46
chromosomes; Down Syndrome involves the presence of an extra copy of
chromosome 21, so that the person has 47 chromosomes in total.
Any change in the bass sequence in DNA results in changed to the polypeptides
that are produces and is a source of new alleles
Many proteins are enzymes that catalyse living chemical reactions. A mutation
can produce an altered chemical reaction, e.g. albinism- a mutation causes the
production of an altered enzyme for synthesising the skin pigment melanin and
therefore melanin is not produced.
Mutations may be an advantage, but in most cases, are disadvantages.
o Favourable mutations provide variations that may be naturally selected
for, resulting evolution. Some mutations may be neutral- except when the
environment changes greatly: E.g. A population of bacteria may contain a
few mutants that have a gene for resistance to an antibiotic. The general
population and the mutants will remain unchanged until the antibiotic is
introduced. Then there is an increase in the numbers of mutants and a
decrease in the regular population.
Note: mutations are only the only source of variation in a population that produces
asexually such as bacteria.

Mutagen: an environmental factor that causes the mutation of genes (that is


alteration of the sequence of structure of the DNA)
Environmental factors that may increase the rate of mutations include exposure
to X-rays, atomic (gamma, alpha, beta) radiation and UV light, exposure to some
chemicals such as pesticides, alcohol, asbestos etc.
Some mutations are harmful. Mutations in body cells, other than sex cells, may
cause changes in the organisms body, such as cancer, but these changes cannot
be passed on to offspring. Mutations in sex cells can be passed on to offspring.
Mutagenic forms of radiation include x-rays and UV light. Evidence of the
mutagenic nature of radiation includes:
o The danger of ionising radiation became apparent soon after the
discovery of X-rays in 1895. Scientists who worked closely with x-rays

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BLUEPRINT OF LIFE
and other forms of radiation developed cancers and/or died
In 1905 doctors recorded many cases of skin cancer on the necks of
grape nickers linking to the exposure to the sun (UV light radiation)
o Beadle and Tatum used x-rays and UV radiation to mutate bread
moulds to prove their one gene-one polypeptide hypothesis
o Atomic bombs (which release radiation) dropped in Nagasaki and
Hiroshima caused a dramatic increase in cancer patients in those
areas
o Nuclear disasters such as Chernobyl in the late 1980s
o Agent orange is a defoliant used in the Vietnam War and produced
many cases of cancer in the people exposed.
The above examples form evidence for the mutagenic nature of radiation,
whereby some are the result of scientific experiments or the implications of the
exposure of radiation on society.
Darwin knew that variation within a population was essential for natural selection
to operate but he did not know the sources of this variation.
Mutations are one source of variation in a population
We now know of the many sources of variation within a population thus
supporting Darwins theory including:
o Crossing over in meiosis allows for new combination of characteristics to
arise
o Random segregation in meiosis each chromosome of the homologous
pair sorts independently and randomly so that the gametes can have
different combinations of chromosomes
o Fertilisation sexual reproduction when the union of a sperm with an
ovum forms a new combination of genes, not identical to the parent
o Mutations
Gradualism
Darwins theory of evolution by natural selection is based on gradual, slow and
continuous change in populations over time
Most recent day scientists accept this theory when it applies to evolution within a
species
Not all scientists agree that this theory always applies to the development of new
species
The fossil record does, at times, show gradualism forming a new species, for
example, the fossil history of the horse
o

EXPLAIN HOW AN
UNDERSTANDING OF
THE SOURCE OF
VARIATION IN
ORGANISMS HAS
PROVIDED SUPPORT
FOR DARWINS
THEORY OF
EVOLUTION BY
NATURAL SELECTION

DESCRIBE THE
CONCEPT O
PUNCTUATED
EQUILIBRIUM IN
EVOLUTION AND HOW
IT DIFFERS FROM THE
GRADUAL PROCESS
PROPOSED BY
DARWIN

Punctuated equilibrium
Species persist unchanged over very long periods of time (5-10 million years) and
the evolution of new species occurs over much shorter time periods (50 to 100
000 years)
Rapid evolution that gives rise to new species occurs in small, isolated
populations when conditions change and when natural selection pressures are
great.
Evidence for the punk ekk theory comes from the fossil record. Many fossil
species show little or no change over long periods of time and these periods are
interrupted by much shorter periods during which new species appear and rapidly
replace the ancestral species.

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BLUEPRINT OF LIFE
PERFORM A FIRSTHAND INVESTIGATION
OR PROCESS
INFORMATION FROM
SECONDARY
SOURCES TO
DEVELOP A SIMPLE
MODEL FOR
POLYPEPTIDE
SYNTHESIS

ANALYSE
INFORMATION FROM
SECONDARY
SOURCES TO OUTLINE
THE EVIDENCE THAT
LED TO BEADLE AND
TATUMS ONE GENE
ONE PROTEIN
HYPOTHESIS AND TO
EXPLAIN WHY THIS
WAS ALTERED TO THE
ONE GENE-ONE
POLYPEPTIDE
HYPOTHESIS

Beadle and Tatum


In 1941, George Beadle and Edward Tatum proposed the one gene-one enzyme
hypothesis after conducting a series of experiments
Hypothesis: if there was a one to one relationship between genes and specific
enzymes, it should be possible to create genetic mutants that are unable to carry
out certain enzyme catalysed reactions.
To test this, they exposed the bread mould Neurospora crassa (fungus with a
haploid genome) to X-rays and UV radiation and studied the resulting mutations.
Genetic analysis showed that each mutant differed from the original by only one
gene, whilst biochemical studies showed that the mutants seemed to be blocked
at certain steps in the normal metabolic pathways mutants could no longer
produce an essential amino acid (implying that a particular enzyme was no longer
functioning)
o To clearly identify the defect Beadle and Tatum investigated the three
steps in the synthesis of arginine

Some of the mutants could not live without a particular vitamin or amino
acid in their food
As they had predicted, they were able to create single gene mutation that
incapacitated certain enzymes, so that these mutated moulds required an
external supply of the substance that the enzyme normally produced, and the
substance that the enzyme normally used piled up in the cell.
This led to the one gene/one enzyme hypothesis.
It was then found that not all genes coded for enzymes but also for different types
of proteins so this was revised to one gene-one protein.
Similarly, when it was discovered that many proteins are made up of more than
o

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BLUEPRINT OF LIFE

one polypeptide chain one gene is not necessarily responsible for the structure
of an entire protein, but for each polypeptide chain making up the protein. Beadle
and Tatums hypothesis was thus revised to be the one gene-one polypeptide
hypothesis.
o E.g. where the code is not for enzymes include some genes that have the
code to build structural proteins such as keratin and collagen
o Some proteins have more than one polypeptide chain, e.g. haemoglobin
has four polypeptide chains of two different types and each of the two
chain types is controlled by a different gene
Beadle and Tatum won the Nobel Prize for Physiology or Medicine in 1958

PROCESS
INFORMATION TO
CONSTRUCT A FLOW
CHART THAT SHOWS
THAT CHANGES IN
DNA SEQUENCES CAN
RESULT IN CHANGES
IN CELL ACTIVITY

Aim: Construct a flow chart that shows that changes in DNA sequences can result in
changes in cell activity

PROCESS AND
ANALYSE
INFORMATION FROM
SECONDARY
SOURCES TO EXPLAIN
A MODERN EXAMPLE
OF NATURAL

Mosquitoes and DDT


DDT spraying was first used at the beginning of World War ll as a preventative
measure against outbreaks of malaria (Anopheles mosquito was responsible for
the transmission of the Plasmodium parasite responsible for malaria in humans)
Initially successful as the mosquito population dropped quite dramatically - By
spraying DDT, mosquitoes with no natural resistance for it died, while mosquitoes
with natural resistance survived (natural variation).

Introduction: If a mutation causes a change in the DNA code, this will influence the protein
produced. If the protein is an enzyme that controls a specific reaction then the absence of
the correct code to make this protein means that a particular reaction cannot occur.
e.g. a change in the code changes the amino acid
sequence

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SELECTION

PROCESS
INFORMATION FROM
SECONDARY
SOURCES TO
DESCRIBE AND
ANALYSE THE
RELATIVE
IMPORTANCE OF THE
WORK OF: JAMES
WATSON, FRANCIS
CRICK, ROSALIND
FRANKLIN, MAURICE
WILKINS, IN
DETERMINING THE
STRUCTURE OF DNA
AND THE IMPACT OF
THE QUALITY OF
COLLABORATION AND
COMMUNICATION ON
THEIR SCIENTIFIC
RESEARCH

Survivors reproduced to create a new generation with natural resistance to DDT.


So, the mosquito population change from one with varying resistance to DDT to
one with complete resistance to DDT.
The use of DDT against the mosquito population thus became fruitless.

Watson and Crick


Worked in the Cavendish laboratory at Cambridge
In 1953, suggested the structure of DNA- a helical structure with anti-parallel
sugar-phosphate backbones on the outside with paired up bases connected by
hydrogen bonds inside
Pieced together significant information from the research of other scientists and
applied it to their model- including a photo taken by Franklin, photo 51 provided
information regarding the distance between atoms, the angles between bonds and
the size of atoms
Franklin and Wilkins
Scientists working at Kings College, London researching the structure of DNA
Franklin produced excellent X-ray diffraction pictures of DNA which showed its
helical structure
Wilkins headed the research team in which Franklin worked
Wilkins collaborated with Watson and Crick when he showed the X-ray diffraction
photographs to Watson
Different methods
Watson and Crick built models using relevant information from other scientists
o 3D representation
o Visual stimulus
o Allows for manipulation
Franklin made X-ray diffraction photographs of DNA from different angles
Both methods helped in the discovery of DNAs structure
Advantages of Collaboration
Scientists can share ideas, research and knowledge
Scientists can give each other advice and constructive criticism errors that
inhibit progress are less likely to occur
Different approaches and perspectives
Debating ideas and solutions can often conjure up ones
Had Watson, Crick, Wilkins and Franklin worked together, they may have
discovered the structure of DNA sooner.
The discovery of DNAs structure has led to many technologies including:
Transgenic species
Cloning
Gene therapy
DNA fingerprinting
Advantages
Improved quality of life (gene therapy)
Increased ability to solve crimes (DNA fingerprinting) possibly safer society as
the ability to identify criminals may dissuade potential criminals
Increasing or preserving biodiversity
Disadvantages
Reduced genetic diversity
Gene therapy carries a financial burden

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BLUEPRINT OF LIFE
Current reproductive technologies and genetic engineering have the potential to alter the path of evolution
IDENTIFY HOW THE
FOLLOWING CURRENT
REPRODUCTIVE
TECHNIQUES MAY
ALTER THE GENETIC
COMPOSITION OF A
POPULATION:
ARTIFICIAL
INSEMINATION,
ARTIFICIAL
POLLINATION,
CLONING

A natural population of organisms maintain genetic variability. Such variation


allows for natural selection to operate and for a population of organisms to evolve
and survive.
Humans selectively breed, clone or genetically engineer (including the production
of transgenic species) to produce organisms with desirable characteristics.
Reproductive technologies can alter the genetic composition of a population, both
positively and negatively, depending on how it is utilised.
Artificial insemination
Artificial insemination (AI) - this is a procedure where sperm containing semen is
injected into the female's reproductive tract.
It allows farmers to breed more of spring from a prized (superior) animal or to
import sperm from overseas to improve the bloodline of the stock. It has also been
used to breed endangered species.
Used to produce offspring that are more efficient as food converters and producing
products such as meat, milk and fibres
Advantages
Disadvantages
Sperm from a selected male with desirable Genetic variability in the population can
characteristics fertilises the egg of a
be reduced by using only a few males
selected female, leading to rapid genetic
repeatedly.
improvement. This is particularly used on
farms. Sperm is selected so that future
generations have characteristics
favourable to their intended use.
Sperm can be frozen and transported
Homozygosity for many genes can
across the country or around the world.
increase and this would increase the
(e.g. a Canadian bull can mate with an
change of deleterious characteristics due
Australian cow). This improves the genetic to a pair of recessive alleles coming
composition of a population by expanding
together (inbreeding).
the gene pool.
There are ethical or moral objections to
artificial insemination in humans.
Artificial pollination
Artificial pollination - is the transfer of pollen (using a brush) from the anther to
the stigma in flowering plants.
Cross pollination increases genetic variability and the offspring may have new
characteristics not see in the parent plant e.g. new colour, shape, size or disease
resistance.
Many plant breeders artificially cross pollinated selected species to try to produce
new varieties looking for particular characteristics (e.g. blue rose), while other
plant breeders artificially self-pollinate a particular species to ensure pure
breeding offspring
Advantages
Disadvantages
Plants with selected characteristics can be It can reduce the genetic variability in the
bred by choosing appropriate flowers to
population if not enough variety is used.
take part in artificial pollination. This can
help to create superior genetic
composition.
Artificial pollination can assist in
It can increase Homozygosity and increase
developing new varieties of plants,
the chance of undesirable characteristics
expanding the genetic composition.
arising due to a pair of recessive alleles
coming together.
Cloning
Cloning can involve taking cuttings from a plant, tissue culture or artificial cloning
of animals.
Advantages
Disadvantages
A rare plant (such as the Wollemi pine), a
As all clones are genetically identical and
plant that has been genetically
all could possess the same disease
engineered, a new variety of a plant that
susceptibility, a disease outbreak could
has been bred say by using artificial
rapidly devastate the whole crop. There is
pollination can be replicated rapidly using
no genetic diversity to allow some to resist
tissue culture, preserving genetic
and survive the disease. This can lead to
composition.
eradication of the genetic composition

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BLUEPRINT OF LIFE

All of the offspring produced through


tissue culture are genetically identical to
the special parent plant, and so help to
preserve genetic composition.
If a farmer grows a crop such as grape
vines that are all clones of parent stock,
management is easier and yield is
uniformly superior.

OUTLINE THE
PROCESSES USED TO
PRODUCE
TRANSGENIC SPECIES
AND INCLUDE
EXAMPLES OF THIS
PROCESS AND
REASONS FOR ITS
USE

DISCUSS THE
POTENTIAL IMPACT
OF THE USE OF
REPRODUCTIVE
TECHNOLOGIES ON
THE GENETIC
DIVERSITY OF
SPECIES USING A
NAMES PLANT AND
ANIMAL EXAMPLE
THAT HAVE BEEN
GENETICALLY
ALTERED

(extinction)
If all farmers use the same clone and dont
grow other plant varieties, genetic
diversity can be lost.
Producing clones of complex animals so
far has proved to be expensive, mostly
unsuccessful and of limited value.

Clone animals have aged quickly and died


early, so the genetic composition seems to
be weaker.
Biotechnology is the use of biological processes by industry r agriculture to change
organisms to produce useful products or provide services
Genetic engineering is a technique of modern biotechnology where genetic material is
manipulated to alter the characteristics of an organism
Transgenic organism: produced via genetic engineering whereby genes from one species
are transferred into another
How a transgenic organism is produced:
A useful gene and the chromosome it is on are identified
The gene is cut out from the DNA strand using restriction enzymes known as
restriction nucleases (there are more than 800 different known type of restriction
enzymes, each cutting a specific point in a sequence of nucleotides, forming
sticky ends
Matching sticky ends of the two cut strands of DNA are mixed and connected.
Sealing enzymes (DNA ligases) are added to the annealed DNA to help seal and
strengthen the bond this process is called annealing
Multiple copies of the gene may be made within bacterial cells
The gene is inserted into the new host cell such as an egg cell (either through a
virus or micro-pipette injection)
Examples:Bacterial genes (from the bacterium Bacillus thuringiensis Bt) are transferred
into the cotton plant. A natural insecticide is produced by genes, making the
cotton plant resistant to caterpillars.
A salmon gene is transferred into strawberries to allow strawberries to be grown in
cold climates.
The human insulin producing gene is transferred into the bacterium E. coli to
produce insulin for diabetics
The human gene for factor 8 production is transferred into a hamster ovary cells.
Factor 8 is a blood clotting substance that controls bleeding in haemophilia.
Reasons for introduction
Introduced to assist agricultural productivity - e.g. inserting a cloned growth factor
in sheep or pigs allowing them to grow faster, tomatoes being modified to switch
off a gene that makes them go soft on ripening
Used in the treatment of diseases supplying designer proteins for human use, e.g.
production of human insulin by bacteria
Plants
Reproductive technologies have the potential to expand and preserve genetic
diversity in plants through selective breeding via artificial pollination and cloning.
However, reproductive technologies can also decrease genetic diversity. If a new
wheat disease or insect pest evaded quarantine protection and infected the crop,
there would be devastating results.
Cloning can maintain genetic diversity, as it did for the Wollemi pine, and can
expand genetic diversity in one area, as it did when French Shiraz grape crops
were cloned and brought to Australia.
E.g. Bt cotton
Over many years, traditional pesticides used on cotton plants had to be
made stronger and be applied more frequently to eradicate insect pests
such as the caterpillar of the Helicoverpa zea moth
With increased sprayings, these caterpillars were building up immunity to
the pesticides due to natural selection
A gene from the soil bacterium, Bacillus thuringiensis have been inserted
into cotton plants
The genes codes for the production of the toxic protein in an inactive form
that is harmless to humans
When the protein is eaten by the caterpillar, it is converted by the

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BLUEPRINT OF LIFE

PROCESS
INFORMATION FROM
SECONDARY
SOURCES TO
DESCRIBE A
METHODOLOGY USED
IN CLONING

ANALYSE
INFORMATION FROM
SECONDARY
SOURCES TO
IDENTIFY EXAMPLES
OF THE USE OF
TRANSGENIC SPECIES
AND USE AVAILABLE
EVIDENCE TO DEBATE
THE ETHICAL ISSUES
ARISING FROM THE
DEVELOPMENT AND
USE OF TRANSGENIC
SPECIES

digestive system into an active form that kills the insect


Animals
Artificial insemination can help to increase genetic diversity in a population by
using sperm from a foreign animal that has favourable characteristics not yet
present in the population.
For example, a superior dairy sire in Canada greatly improved milk production in
his daughters, and so his sperm was used in many dairy herds in Australia. This
did increase genetic diversity for some time, producing cows with great milk
production that allowed for maximum profitability.
However, it can have a negative impact on genetic diversity as it encourages
homozygosity.
For example, the overuse of the dairy sire from Canada initiated inbreeding and an
increase in homozygosity, which led to the introduction of new genetic diseases
that were unavoidable if the same dairy cows were used for reproduction because
of the presence of two recessive alleles together,
Cloning (e.g. Dolly)
1. Remove an appropriate cell (e.g. udder cell) from
the animal being cloned
2. Take an unfertilised egg from another female and
remove its DNA
3. Fuse the egg with the cell using a spark of
electricity
4. Incubate the fused cell
5. Check that normal development is occurring in the
embryo
6. Implant the embryo in a surrogate mother
7. A clone is born

Ethical issues

Ethical issues
Environment and nature

Financial gain

Medical and health

Animal and human rights

For
Many new discoveries are
considered threats at first
(e.g. nuclear power) if we
could develop products
that are too our benefit, it
would be unethical not to
develop them
We could create crops that
re more drought resistance
and tolerant to pest and
diseases and have higher
yields quality improves
and less money is spent
Financial gain is essential
and can be put back to
further research
Foods with higher
nutritional values may be
developed to supply better
nutrition to people in third
world countries
Reduced use of pesticides
is better for consumers
health
Solve food shortage sin
third world countries
producing higher yields at
lower cost

Against
We may be changing the
natural process of evolution
Biodiversity is upset as
variation in the gene pool is
lowered leading to mass
extinction
People in third world
countries may not be able to
afford or have access to
beneficial GM products, so
they may fall further behind
developed countries,
widening the poverty gap
Ownership of certain GM
products between
companies can create a
monopoly
Potential long-term health
risks are not yet known
People may experience
allergic reactions to foods
they could previously eat if
the foods contain the DNA of
other organisms
Vegetarians may
unknowingly eat food with
animal DNA

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