BIO2: Blueprint of Life

1. Evidence of evolution suggests that the mechanisms of

inheritance, accompanied by selection, allow change over many
generations
OUTLINE THE IMPACT ON THE EVOLUTION OF PLANTS AND ANIMALS OF:
- CHANGES IN PHYSICAL CONDITIONS IN THE ENVIRONMENT
- CHANGES IN CHEMICAL CONDITIONS IN THE ENVIRONMENT
- COMPETITION FOR RESOURCES

Physical conditions: temperature, aridity

o The Australia landmass has become drier over time and this has lead to changes in
the species of kangaroos that are present today. Approximately 25 million years
ago, Australia was considerably wetter than today with large areas of rainforest.
During this time, kangaroos were small and omnivorous, with unspecialised teeth,
eating a variety of foods from the forest floor.
o As Australia became more arid and grass became the dominant vegetation in some
areas, environmental selective pressure resulted in larger kangaroos favouring
teeth suitable for grass. These teeth, high-crested molars, efficiently grind lownutrition grass into a more easily digestible paste. Slicing pre-molars are of little use
and so became much reduced from the ancestral kangaroos.
Chemical conditions: water salinity
o Chemicals, such as dieldrin and organophosphates, have been used extensively to
control the sheep blowfly. However, genetic resistance has occurred within the fly
population that has made these chemicals ineffective. Continued use of the
insecticide has resulted in the mutation of a modifier gene that increases and
maintains the resistance.
Competition for resources: introduction of a new predator
o The myxoma virus was introduced in 1950 in an attempt to control the numbers of
European rabbits in Australia
Virus is carried by fleas, and causes myxomatosis in rabbits
o At first, 99% of infected rabbits died. Over time, the death rate reduced to 50%.
o Those rabbits that survived the first infection had a greater resistance to the
disease than other rabbits. These resistant rabbits would have offspring which
would inherit the resistance, so the proportion of rabbits with resistance to the
myxoma virus increased over time.

ANALYSE INFORMATION FROM SECONDARY SOURCES TO PREPARE A CASE STUDY TO

SHOW HOW AN ENVIRONMENTAL CHANGE CAN LEAD TO CHANGES IN A SPECIES

Physical change: Peppered moths in

England
In unpolluted forests, pale moths are well
camouflaged on pale, lichen-covered tree
trunks
o Birds that prey on moths eat more
of the conspicuous dark moths
because they are more visible, so
pale moths survive and reproduce,
and come to dominate the gene pool
In polluted forests near industrial cities, where tree trunks are blackened, dark moths have
a higher survival rate in the polluted environment, and so have become dominant.
Chemical change:
In subsequent sprayings of DDT to kill mosquitoes, low concentrations were ineffective
Few mosquitoes which survived the first spraying had a natural resistance to DDT and
passed this on to their offspring
o Population changed from mainly susceptible to mainly resistant due to selection by
DDT in the environment
DESCRIBE, USING SPECIFIC EXAMPLES, HOW THE THEORY OF EVOLUTION IS
SUPPORTED BY THE FOLLOWING AREAS OF STUDY:
- PALAEONTOLOGY, INCLUDING FOSSILS THAT HAVE BEEN CONSIDERED AS
TRANSITIONAL FORMS
- BIOGEOGRAPHY
- COMPARATIVE EMBRYOLOGY
- COMPARATIVE ANATOMY
- BIOCHEMISTRY

Palaeontology: the study of fossils (including transitional

forms)
Shows sequential change, e.g. the horse
Transitional forms are examples of organisms that
indicate the development of one group of organisms
from another, or from a common ancestor
o Help us understand how evolutionary change
may
have come about
E.g. Crossopterygian
o Like fish: scales, fins, gills
o Like amphibians: lobe-fins (to walk on land), lungs
o It is thought that amphibians developed from such fish that could absorb oxygen
from the air
E.g. Archaeopteryx
o Like reptiles: long tail, claws, no keel, solid bones, teeth
o Like birds: wish-bone, feathers

This flying dinosaur from the late Jurassic

supports the theory that birds developed
from reptiles

Biogeography: the study of distribution of living things

Animals and plants of Asia and Australia are very

different, separated by Wallaces Line or
Lydekkers Line
o Australias unique mammals and
angiosperms result from periods of
evolution in isolation
o Looking at pattern of distribution of an
organism, plus its fossil distribution, we can
reconstruct its evolutionary history
E.g. Waratahs
o Genus Embothrium grows in forests of
South America
o Genus Oreocallis grow in New Guinea, north-eastern Australia, Peru and Ecuador
o Genus Telopea grow in eastern Australia
Present-day distribution of these closely related species suggests that
western part of South America and eastern parts of Australia may have once
been connected
Biogeography provides evidence of divergent evolution

Comparative Embryology: the study of embryos of different organisms, looking for similarities
and differences between them
Similarity between embryos of different vertebrate species suggests a common ancestry
E.g. All chordates possess pharyngeal gill pouches during development
o Only in fish/amphibian larvae do these develop into gills
o We probably inherited them from an aquatic ancestor
E.g. basic vertebrate pattern of six pairs of aortic arches is modified during
later development in different vertebrates
o Adult fish has circulation pattern similar to basic pattern
o In frogs and humans, several aortic arches are lost with loss of functional gills and
development of lungs for gas exchange
E.g. all terrestrial vertebrates have embryonic tails, even humans

Comparative Anatomy: the study of differences and similarities in structure between different
organisms
Structures in common are evidence of similar inherited characteristics from common
ancestors
Structural homology e.g. the pentadactyl limb [one DotPoint down]
o Most land vertebrates show same pentadactyl (five-digits) limb pattern in arm and
leg bones
o Mammalian forelimbs are said to be homologous structures
Note*:Analogous structures have similar functions but are not necessarily
similar in basic structure, e.g. a flys wings and a bats wings
o In bats, the limb is modified to form a wing with the fingers extended and skin
stretched between each finger. Whales have within their single paddle-like fin a fully
formed pentadactyl limb.

o Inherited this from aquatic ancestors, the lobe-finned fish

E.g. xylem
o Ferns, conifers and flowering plants all have vascular tissue, including xylem which
transport water throughout the plant
o Suggests that these groups of plants had a common ancestor

Biochemistry:

Degree of similarity in molecules among a wide range of animals reflects genetic

closeness
Proteins (haemoglobin), DNA, RNA and hormones are studied
Agglutination studies: Artificial antihuman antibodies are made. The serum is used to
test for human proteins in various organisms, as antibodies will cause proteins to be
precipitated from solution
o Closely related animals have a small antigen-antibody reaction
o Antihuman antibodies cause 97% of chimpanzee proteins to precipitate, suggesting
97% common proteins between humans and chimpanzees
Protein sequencing: The amino acid sequence of the enzyme cytochrome c can be
compared
o This enzyme is found in most organisms as it plays a role in respiration
o More differences in amino acid sequence can be expected if two species diverged
from a common ancestor a long time ago
Hence, cytochrome c functions as a molecular clock to estimate the time
since two species diverged
DNA hybridisation: [two DotPoints down]

PERFORM A FIRST-HAND INVESTIGATION OR GATHER INFORMATION FROM SECONDARY

SOURCES (INCLUDING PHOTOGRAPHS/ DIAGRAMS/MODELS) TO OBSERVE, ANALYSE
AND COMPARE THE STRUCTURE OF A RANGE OF VERTEBRATE FORELIMBS

USE AVAILABLE EVIDENCE TO ANALYSE, USING A NAMED

EXAMPLE, HOW ADVANCES IN TECHNOLOGY HAVE CHANGED
SCIENTIFIC THINKING ABOUT EVOLUTIONARY RELATIONSHIPS
DNA-DNA Hybridisation: chemical hybridisation is used to compare
DNA molecules from different species
1) DNA from a species is separated into 2 strands using heat
2) Single strands formed are mixed with single strands from another
species
3) Two different strands will join to form a hybrid molecule. However,
not all pairs of bases will match. A high degree of pairing will occur
is two DNA sequences are similar. Low degree of pairing will occur if
two DNA sequences are very different
4) Degree of pairing can be estimated by measuring the temperature
at which hybrid strands separate. The more bonds formed, the
higher the temperature needed to separate the strands
Species which diverged more
recently from a common
ancestor will be expected to
show a higher degree of
hybridisation
Hybridisation studies show that
humans are most closely related
to chimpanzees, followed by
gorillas and then orang-utans,
which were the first to diverge
from a common ancestor
EXPLAIN HOW DARWIN/WALLACES THEORY OF EVOLUTION BY NATURAL SELECTION
AND ISOLATION ACCOUNTS
FOR DIVERGENT EVOLUTION AND CONVERGENT EVOLUTION
Evolution by natural selection:
1) In any population there are variations among individuals
2) In any generation, there are offspring that do not reach maturity and reproduce; the
characteristics of these organisms are removed from the population
3) Those organisms that survive and reproduce have favourable variations that are well
adapted to that environment
4) Favourable variations are passed on to offspring; they become more and more common in
the population
Convergent evolution:
Natural selection can result in similar
adaptations in unrelated species that live in
similar environments
o The same variations are favourable
due to same selection pressures in
both environments
E.g. Seals, dolphins (mammals) and
sharks (cartilaginous fish) both live in
the open ocean

Have limbs modified as flippers, streamlined bodies, and eat fish. Seals and
dolphins, belonging to different orders of mammals, are able to stay under water
longer than most other mammals, and have thick layer of fat under skin to
conserve body heat

Divergent evolution: (a.k.a adaptive radiation)

Isolated populations of a single species in different environments come to present
different dominant variations through
evolution, as selection pressures are
different in the different environments.
Ultimately, the two populations might be so
different that they can no longer interbreed,
and hence form new species
o E.g. Darwin described 14 species
of finches on the Galapagos and
Cocos Islands
Habitat and diets were
different, and thus they had
different body sizes and beak
sizes/shapes
On each island, the forms that
had survived were those which were most suited to the food resources and
habitat available there
PLAN, CHOOSE EQUIPMENT OR RESOURCES AND PERFORM A FIRST-HAND
INVESTIGATION TO MODEL NATURAL SELECTION
ANALYSE INFORMATION FROM SECONDARY SOURCES ON THE HISTORICAL
DEVELOPMENT OF THEORIES OF EVOLUTION AND USE AVAILABLE EVIDENCE TO
ASSESS SOCIAL AND POLITICAL INFLUENCES ON THESE DEVELOPMENTS
Historical Developments of Theories:
Linnaeus : Published classification system in which he classified humans and apes
together
Erasmus Darwin: First suggested that all life came from a single source
Cuvier: Noted that in some areas rock layers were very distinct from those beneath them,
and inferred that these changes must be due to catastrophic events. Catastrophes are
followed by repopulation from other areas
John Baptiste de Lamarck:
o Proposed the idea of use and disuse, and inheritance of acquired characteristics
o Inherent drive towards higher forms
o Helped make Darwins ideas more acceptable
Charles Lyell
o His work Principles of Geology proposed that the gradual geological processes we
observe today have always been occurring
o This concept of uniformitarianism entailed the Earth was millions of years old, not
6000 as it was believed
The large time span was necessary for the feasibility of the theory of
evolution
Thomas Malthus: Wrote an essay on competition for resources, arguing that
overpopulation entailed a struggle for existence

Alfred Russel Wallace: Came to same conclusions as Darwin; evolution by natural

selection
Charles Darwin: Published On the Origins of Species by Means of Natural Selection
Gregor Mendel: Developed the particulate model of inheritance, the means by which
natural selection could occur

Social and Political Influences:

Predominant view in western cultures was creationism
o Each species had been created in its present form by God in six days
o Earth is 6000 years old, and species have not changed in this time
o Humans have a special place in the world; evolution reduces humans to same level
as other organisms
Darwins theory of evolution was rejected by many religious people
o Idea that humans are descended from apes caused social/political outrage
o Evolution threatened the power of religious institutions that had long held
political/social power
1920s: Protestant traditionalists campaigned against antibiblical ideas of evolution
Several states in USA banned teaching evolution in public
schools
1925 Scopes trial: A teacher was prosecuted for teaching the
theory of evolution as fact

2. Gregor Mendels experiments helped

advance our knowledge of the inheritance of
characteristics
OUTLINE THE EXPERIMENTS CARRIED OUT BY GREGOR
MENDEL

Mendel cross-bred tall and short plants: all the offspring were
tall
He allowed all these tall offspring (F1) to self-fertilise, and found that the F2 generation
consisted of tall to short plants in the ratio 3:1 (the monohybrid ratio)
Repeated these experiments testing other characteristics of garden peas
o Round/wrinkled seed, yellow/green seed, smooth/constricted pod, yellow/green pod,
violet/white flower, tall/short stem, terminal/auxiliary flowers

DESCRIBE THE ASPECTS OF THE EXPERIMENTAL TECHNIQUES USED BY MENDEL THAT

LED TO HIS SUCCESS

Used peas, which were easily grown and produced successive generations rapidly
Selected characteristics which had two easily identified forms
Bred each variety for 2 years to make sure that the characteristic was consistent

o Ensured pure breeding lines

Cross fertilisation was ensured by removing
stamens from one of his breeding pairs (female
parent) and then pollinating it with pollen from
stamens of the other of the pair (male parent)
using a brush
Self-fertilisation was ensured by covering a plant
with a bag so that only pollen from its stamen
would land on its carpels
Repeated experiments many times for reliable
results
Kept careful records and counted results he obtained
o Recorded the parents of each offspring
Used mathematics to rigorously analyse results
Studied one character at a time, so that the effects of each could not be confused

DESCRIBE OUTCOMES OF MONOHYBRID CROSSES INVOLVING SIMPLE DOMINANCE

USING MENDELS EXPLANATIONS

Monohybrid cross: a breeding experiment that looks at the inheritance of only

one characteristic
o Offspring are known as F1 or first filial generation
Mendel cross-bred tall and short plants: all the offspring were tall
He allowed all these tall offspring (F1) to self-fertilise, and found that the F2
generation consisted of tall to short plants in the ratio 3:1 (the monohybrid
ratio)
o Parents- TT x tt
o F1- all Tt Tt x Tt (all tall)
o F2- 1 TT : 2 Tt : 1 tt (3 tall : 1 short)
__________________
Each plant had two inherited factors for each trait. Plants with
identical factors were called true breeding. Plants with different factors were
called hybrids
Each factor was a discrete particle that retained its identity across
generations (challenging the blending model)
Mendels 1st law, the Law of Segregation: factors for the same
characteristic occur in pairs in an individual. These pairs separate at
gamete formation, so that a gamete contains only one factor for each
characteristic
Mendels 2nd law, the Law of Independent Assortment: each
pair of factors sorts out independently of other pairs at gamete
formation. This means that either factor of a pair can combine with
either factor of another pair
__________________
All gametes from the TT parent contained the T allele, and all gametes from the tt parents
contained the t allele
o Therefore, all F1 plants had the heterozygous genotype Tt
In a gene consisting of two possible alleles, one would be dominant and the other
recessive. In heterozygous individuals, the dominant allele would be expressed

Hence, the F1 plants with heterozygous genotype presented the dominant

phenotype (tall)
Gametes from each Tt parent of the F1 generation may have the T allele or the t allele.
o Via a Punnet square, it can be seen that the F 2 generation will be approximately
25% TT, 50% Tt, and 25% tt, i.e. 75% of the F2 generation will be tall and 25% will
be short.
A test cross is when an individual with the dominant phenotype is crossed with an
individual with the recessive phenotype (and hence is homozygous recessive) to find out
whether the first individual is homozygous dominant or heterozygous.
o TT x tt all Tt
o Tt x tt 1 Tt: 1 tt
o

DISTINGUISH BETWEEN HOMOZYGOUS AND HETEROZYGOUS GENOTYPES IN

MONOHYBRID CROSSES

Homozygous: having two identical forms (alleles) of the gene for a particular
characteristic
Heterozygous: having two different forms (alleles) of the gene for a particular
characteristic
o Heterozygous offspring are hybrids: offspring of two different parents

Parents- TT x tt (homozygous dominant x homozygous recessive)

F1- all Tt Tt x Tt (heterozygous x heterozygous)
F2- 1 TT : 2 Tt : 1 tt (1 homozygous dominant : 2 heterozygous : 1 homozygous recessive)

DISTINGUISH BETWEEN THE TERMS ALLELE AND GENE, USING EXAMPLES

Gene: a unit of inheritance, which occurs

as a specific locus on a chromosome,
corresponding to a particular
characteristic or phenotype
Allele: a member of a gene pair;
alternative factors carrying information
for the same trait, but not necessarily the
same information
o Each individual has a pair of genes
for each characteristic; one allele
on each of two homologous chromosomes
E.g. A plant heterozygous for tallness has one allele for tallness and one for shortness. A
plant homozygous for tallness has identical alleles in its gene pair
Genotype: actual alleles an organism possesses for a characteristic
Phenotype: outward appearance of an organism; the expressed or presented traits as a
result of an organisms genotype

EXPLAIN THE RELATIONSHIP BETWEEN DOMINANT AND RECESSIVE ALLELES AND

PHENOTYPE USING EXAMPLES

Offspring resulting from tall crossed with short plant were just as tall as the tall parents
o Mendel called this form dominant
o The other parental form not expressed in F1, he called recessive

F1 (Tt) were genetically heterozygous, but their phenotype showed only the dominant
allele (T)
o The F1 which appeared tall must also have a recessive gene for shortness which was
not expressed (Tt)
In an individual homozygous for a trait, the phenotype directly reflects the allele
o TT plants are tall; tt plants are short
In an individual heterozygous for a trait, the phenotype reflects only the dominant allele
o Tt plants are tall

OUTLINE THE REASONS WHY THE IMPORTANCE OF MENDELS WORK WAS NOT
RECOGNISED UNTIL SOME TIME AFTER IT WAS PUBLISHED
o Mendel published the results of his work in 1866
The significance of his findings were not recognised, perhaps because he was not a wellknown, high profile member of the scientific community
Other scientists at the time studied whole organisms, while Mendel studied single
characteristics
Because he worked initially with only garden peas, it was thought that his results were not
widely applicable
The attention of scientists at the time was focused on evolution and differences between
species, and there was a decline in interest in the work of breeders who were concerned
with differences within species
He presented his paper to only a few people at an insignificant, local scientific meeting,
and published it in a small obscure journal
At the time, the processes of meiosis and mitosis were unknown
______________
Darwins theory of evolution had been published, but Darwin could not account for the
origin of variation he observed in species
It was not until 1900, when 3 scientists independently produced similar data, that his
contribution was recognised
In the 20th century, biologists have been able to explain the processes of natural selection
SOLVE PROBLEMS INVOLVING MONOHYBRID CROSSES USING PUNNETT SQUARES OR
OTHER APPROPRIATE TECHNIQUES
PERFORM AN INVESTIGATION TO CONSTRUCT PEDIGREES OR FAMILY TREES, TRACE
THE INHERITANCE OF SELECTED CHARACTERISTICS AND DISCUSS THEIR CURRENT USE
PROCESS INFORMATION FROM SECONDARY SOURCES TO DESCRIBE AN EXAMPLE OF
HYBRIDISATION WITHIN A SPECIES AND EXPLAIN THE PURPOSE OF THIS
HYBRIDISATION

Plant breeders carried out systematic crosses between different varieties of one species to
form hybrids that had new combinations of desirable characteristics
Hybridisation: the crossing of different varieties of one species to produce new varieties
with different combinations of characteristics
Hybrid vigour: hybrids combine best features of their parents
o Hybrid plants are generally more vigorous and higher yielding compared to their
true-breeding parents

Wheat hybridisation in Australia:

3.

Flour produced from Australian-grown wheats was too poor to be

used for baking bread in last 1800s
o English varieties of wheats ripened too late to survive the
hot summers
o So the flour for baking bread was imported into Australia
William Farrer systematically used cross-breeding to improve
bread wheat and pasta wheat
o Prevented self-fertilisation and carried out artificial crosses
Farrer succeeded in breeding many new wheat varieties with
new characteristics including:
o Narrow leaves to reduce water loss, to survive in
Australias dry climate
o Early ripening to suit Australias shorter growing season
o Improved baking quality
o Improved yield
o Resistance to a fungal disease known as bunt
Crossed an early-ripening Indian wheat with a Canadian variety that had good baking
properties, then selected one of these, and crossed it with a higher yielding variety to
make the new variety Federation
o Federation ripened early, had high yield, and was ideal for mechanical harvesting
because it had a strong short straw

Chromosomal structure provides the key to inheritance

DESCRIBE THE CHEMICAL NATURE OF CHROMOSOMES AND GENES

Each chromosome is DNA (40%) coiled around protein cores called histones (60%)
Short lengths of DNA make up genes so genes have the same chemical composition as
DNA
DNA = deoxyribonucleic acid

IDENTIFY THAT DNA IS A DOUBLE-STRANDED MOLECULE TWISTED INTO A HELIX WITH

EACH STRAND COMPRISED OF A SUGAR-PHOSPHATE BACKBONE AND ATTACHED

BASES ADENINE (A), THYMINE (T), CYTOSINE (C) AND GUANINE (G) CONNECTED TO
A COMPLEMENTARY STRAND BY PAIRING THE BASES, A-T AND G-C

DNA is a double-stranded helical molecule, made of subunits called nucleotides

Each nucleotide consists of a sugar(deoxyribose), a phosphate, and a nitrogenous base
4 nucleotides possible
Adenine joins to thymine and guanine joins to cytosine
Information is stored in the sequencing of bases (A,G,T,C) along the DNA molecule.
Backbone of the structure is comprised of deoxyribose sugar and phosphate molecules.
Rungs of the ladder are made up of complementary bases joined by hydrogen bonds

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

CHROMOSOMES
Theodor Boveri experimented on sea urchins, and showed that a complete set of chromosomes
is necessary for normal development of an organism
Demonstrated a connection between chromosomes and heredity
Since a specific assortment of chromosomes was necessary for normal development,
individual chromosomes must possess different qualities
Suggested that Mendelian traits may be connected to specific chromosomes
Walter Sutton studied chromosomes in testis of a grasshopper, and suggested that Mendels
inheritance factors (genes) are carried on chromosomes. He noted that:
During meiosis, chromosomes in each grasshopper cell lined up in homologous pairs, and
each pair was the same size/shape
Homologous pairs of chromosomes segregate during meiosis so that each gamete
receives one chromosome from each pair
After fertilisation, the resulting zygote had a full set of homologous chromosomes
Since hereditary factors are more numerous than chromosomes, each chromosome has to
have many units (genes)
Chromosomes maintain a distinct structure even though they duplicate and divide
o Sutton suggested that the association of paternal/maternal chromosomes in pairs
and their subsequent separation during meiosis may constitute the physical basis of
Mendelian principles of heredity
Sutton-Boveri theory is the chromosomal theory of inheritance, identifying that
chromosomes carry many units of inheritance (genes) and occur in distinct pairs
EXPLAIN THE RELATIONSHIP BETWEEN THE STRUCTURE AND BEHAVIOUR OF
CHROMOSOMES DURING MEIOSIS AND THE INHERITANCE OF GENES

During meiosis, each chromosome makes a complete copy of itself. The duplicate
chromosomes are attached to the originals by centromere.
Homologous chromosome pairs line up in at the equator of the cell. Crossing over occurs,
where sections of chromosomes break off and rejoin onto the homologous chromosome.
o This means that linked genes which are located on the same chromosome from
the same parent, can be separated by crossing over.
In the first division of meiosis, homologous chromosome pairs separate into two new cells,
so that each of the two new cells has half of the genetic information of the original, but a
duplicate copy of each chromosome.
In the second division of meiosis, duplicated chromosomes separate to single strands,
resulting in four sex cells that are haploid
o Genes are located on chromosomes. Therefore, they are duplicated, then randomly
assorted during meiosis as homologous chromosomes are randomly assorted into
haploid gametes

EXPLAIN THE ROLE OF GAMETE FORMATION AND SEXUAL REPRODUCTION IN

VARIABILITY OF OFFSPRING
Gamete Formation:
Haploid gametes formed in meiosis, contain half the normal (diploid) number of
chromosomes because homologous pairs separate
Random segregation/independent assortment of homologous chromosomes during
meiosis makes each gamete different, causing variability of offspring
Crossing over: during meiosis, chromosome material is exchanged between
chromosomes

o
o
o

Homologous chromosomes line up; adjacent chromatids split where they touch and
join up with different pieces
Maternal and paternal chromosomes of each pair exchange segments of genes,
making new combinations of maternal/paternal alleles on chromosomes
Ensures that linked genes on the same chromosomes arent always inherited
together, and further increases variability in offspring

Sexual Reproduction:
In sexual reproduction, two gametes are brought together and, in fertilisation, fuse to
form a diploid zygote
Combining two gametes in fertilisation (each of which is randomly drawn from the huge
group of gamete possibilities from each parent due to random segregation and crossing
over) drastically increases the possible variations in offspring, as it is sheer chance that
determines which gametes will be involved in fertilisation
The chance of the same type of egg and same type of sperm again being produced and
united is remote
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 GAMETES
DESCRIBE THE INHERITANCE OF SEX-LINKED GENES, AND ALLELES THAT EXHIBIT CO
DOMINANCE AND EXPLAIN WHY THESE DO NOT PRODUCE SIMPLE MENDELIAN RATIOS
Sex linkage:
Females have sex chromosomes XX; males have sex chromosomes XY
o All males receive their single X chromosome from their mother
Characteristics determined by genes on the X chromosome are said to be sex-linked
because they occur more commonly in one sex than the other
o Males need only one allele for colour blindness on the X chromosome while females
require two. This results in many more males being colour blind than females
because for females, the father would have to be colour blind and the mother either
colour blind or be a carrier.
A colour-blind person has a recessive allele (n) Since the Y
chromosome carries no allele for this trait, a single recessive allele on
the X from their mother is effective in males. As a result, simple
Mendelian ratios are not produced.

XN

Xn

XN

XN XN

XN X n

XN Y

XnY

o E.g. parents- XNY x XNXn

Male offspring has 50% chance of getting recessive allele on the Y, and hence
expressing its phenotype

Female offspring has 0% chance of expressing the recessive

phenotype
In Mendels work, male and female children had equal probability
of expressing the phenotype

o E.g. parents- XnY x XNXn

XN
Xn

XN X n XN X n

XN Y

Male offspring has 50% chance of expressing the recessive phenotype

Female offspring has 50% chance of expressing the recessive phenotype

E.g. parents- XnY x XNXN

XN

XN Y

No offspring will express the recessive phenotype, but all females will be carriers

Co dominance:
The heterozygote presents both phenotypes simultaneously, and may appear to have a
phenotype intermediate to those of the homozygous parents
o Blending of phenotypes
o E.g. Snapdragons, Antirrhinum majus
Parents- R1R1 (red) x R2R2 (white)
F1- all R1R2 (all pink) R1R2
x R1R2
F2- 1 R1R1 (red) : 2 R1R2 (pink) : 1
R2R2 (white)
Does not produce simple 3:1 F2 Mendelian ratio, because
heterozygous
individuals have a third phenotype, which is the
simultaneous expression of both alleles
o E.g. Southhorn cattle: Cross of a redcoated and white-coated Shorthorn produces all
hybrid offspring with a roan coat, consisting of
both red and white hairs

RW

RW

RW

RW

Co-dominant alleles show that the relationship between expression of alleles of a gene is
not always one of complete dominance
Apart from their phenotypic interaction, co-dominant alleles behave the same as alleles of
genes that Mendel identified.

EXPLAIN THE RELATIONSHIP BETWEEN HOMOZYGOUS AND HETEROZYGOUS

GENOTYPES AND THE RESULTING PHENOTYPES IN EXAMPLES OF CO-DOMINANCE
E.g. Shorthorn Cattle
Homozygous RR individuals are red
Homozygous WW individuals are white
Heterozygous RW individuals are roan
o Heterozygous phenotype is an intermediate of the phenotypes of homozygous R1
and homozygous R2 individuals

Alleles present

Blood type

E.g. Human blood

AA or AO
A
A and B are both dominant to O
BB or BO
B
Homozygous A individuals have blood group A
Homozygous B individuals have blood group B
OO
O
Homozygous O individuals have blood group O
AB
AB
Heterozygous AB individuals have blood group AB
o In the heterozygous AB phenotype, both the A and
B phenotypes are simultaneously expressed
o When a homozygous A parent and homozygous B parent have a child, that childs
blood group will be AB

DESCRIBE THE WORK OF MORGAN THAT LED TO THE UNDERSTANDING OF SEX

LINKAGE

In the early 1900s, Thomas Hunt Morgan was trying to replicate Mendels work using the
fruit fly Drosophila and eye colour [W = red, w =
white]
o Ideal species for breeding experiments
because it:
Has easily observable characteristics
carried on 4 pairs of chromosomes
Produces hundreds of offspring in a
single mating
Produces a new generation in 10-12
days
___________________________

Parents- XwY (white male) x XWXW (red female)

F1- XWY (red male) x XWXw (red female)

o Since all F1 had red eyes, red eye colour was dominant and white was
recessive

F2- XWY (red male), XwY (white male), XWXW (red female), XWXw (red
female)
o The expected ratio of 3 red: 1 white did appear, but all the white-eyed flies
were males

Test cross- XwY (white male) x XWXw (red female from F1)
o
o
o

Used to determine if the red female from F1 was homozygous or heterozygous

Results were 50% of males were red, 50% were white; 50% of females were red,
50% were white
Showed that red females from F1 were heterozygous XWXw
Hence, F2 shouldve exhibited the Mendelian 3:1 ratio, but it didnt

Reciprocal cross- XWY (red male) x XwXw (white female) 1 white male : 1
red female
o In this cross, the F1 generation did not consist of all red heterozygous individuals.

This challenged Mendels view that whether an allele came from the male or female
pattern was irrelevant in determining the offsprings genotype.
__________________________
Morgan hypothesised that gene for eye colour must be carried on X chromosome (was
sex-linked) and that the Y chromosome has no gene for eye colour.
o Therefore, all F1 females would be heterozygous, having inherited one recessive
white allele from the father, and one dominant red allele from their mother
o This idea was supported by results of the test cross
In humans, X-linked genes include red-green colour blindness and haemophilia
o For a male to suffer from an X-linked condition, he only needs to inherit a single
defective X-chromosome from his mother
o Females need two defective X-chromosomes with the recessive allele to express its
phenotype. This is far less likely to occur than in males
Conclusion: Some genes are located on the same chromosome that determines gender;
the expression of these is related to an offsprings gender

*In genetics problems with sex linkage, use superscripts for alleles next to the X
chromosome

SOLVE PROBLEMS INVOLVING CO-DOMINANCE AND SEX LINKAGE

X-linked dominant pattern
Male with the trait passes it on to all his daughters and none of his sons
Every affected person has at least one parent with the trait
If a trait disappears from a branch of the pedigree, it does not reappear
Affects more females than males
X-linked recessive pattern
All sons of a female with the trait are affected
All daughters of a male with the trait will be carriers
All children of two individuals with the trait will show the trait
More males than females will show the trait
OUTLINE WAYS IN WHICH THE ENVIRONMENT MAY AFFECT THE EXPRESSION OF A
GENE IN AN INDIVIDUAL

Environment may not allow the particular characteristics of a gene to be fully revealed or
expressed
E.g. two people with same genetic inheritance for tallness might grow to different heights
because of differences in nutrition or their health
Studies on identical twins who are brought up in different environments show that these
twins have larger differences in certain characteristics than identical twins who are
brought up in the same environment
Genotype + Environment Phenotype
Phenylketonuria
Babies that inherit the homozygous recessive genotype pp from their parents cannot
produce a certain enzyme
If these babies are fed diets that include proteins that
contain normal quantities of the amino acid, phenylalanine
(phe), the babies will suffer brain damage.
If the babies are fed with a special diet with very low levels of
phe, they will not suffer brain damage and will present a
normal phenotype
o Therefore, phenotype of a child with genotype pp
depends on internal environment that is controlled by
diet
Hydrangea plants
This plants produce flowers, which have colouration
dependent on acidity or alkalinity (pH) of the soil in which
they are grown
In soil with acidic pH, pigments are a bright blue
In soil with alkaline pH, pigments are a pale pink colour
American Alligator
Sex is determined by the temperature they were incubated at during embryonic
development
o Eggs incubated at cooler temperatures turn into females, while warmer eggs turn
into males

Sandaggers Wrasse
Fish live in groups consisting of a single male with 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 for the group
IDENTIFY DATA SOURCES AND PERFORM A FIRST-HAND INVESTIGATION TO
DEMONSTRATE THE EFFECT OF ENVIRONMENT ON PHENOTYPE

4. The structure of DNA can be changed and such changes may

be reflected in the phenotype of the affected organism
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

It was Wilkinss idea to study DNA by X-ray crystallographic techniques.

Rosalind Franklin and Maurice Wilkins used X-ray crystallography to obtain an X-ray
diffraction pattern of the DNA molecule
o Rosalind Franklin assumed shed be the only one working on DNA, but Wilkins
assumed that she was to assist in his work. Communication between the two was
difficult, and probably slowed their progress
o Rosalind Franklins advances in X-ray diffraction techniques showed us the shape of
DNA molecule; two strands linked to form a tightly linked pair
Franklin produced an extremely fine beam of x-rays, and arranged finer DNA
fibres than ever before in parallel bundles
o Rosalind Franklin suspected that all DNA was helical, but did not want to announce
this finding until she had gathered more evidence of this result. Wilkins showed her
results to Watson and Crick without her knowledge or consent
James Watson and Francis Crick had a close working relationship, and persisted even after
the first failed model, and being told to stop DNA research
o They published an accurate and successful double helix model of DNA, after
examining:
Franklin/Wilkins work
Chargaffs research finding that there are equal amounts of the four bases in
DNA
Linus Paulings discovery that some proteins have helical shapes
o In their model, two chains twisted into a double helix of alternating
sugar/phosphate units linked by pairs of four bases. Adenine always pairs with
thymine; cytosine always pairs with guanine
Rosalind Franklin died of ovarian cancer. Watson, Crick and Wilkins received the Nobel
Prize in medicine/physiology for their determination of DNAs structure

DESCRIBE THE PROCESS OF DNA REPLICATION AND EXPLAIN ITS SIGNIFICANCE

DNA Replication:
DNA double helix is unwound by an enzyme
DNA replication begins with separation of its two strands, so that the strands unzip to form
a replication fork
o These parent strands will form the template for synthesis of complementary strand
o Binding proteins prevent strands from rejoining
A complementary copy of each exposed strand is constructed by adding new nucleotide
units (catalysed by DNA polymerase)
The leading strand strand is built as a continuous strand
The lagging
strand is built by
linking DNA
fragments (called
Okizaki
fragments)
together
The two new
double-stranded
molecules are
called chromatids
Significance of DNA
Replication:
Is that identical copies of genes can be made, and hence genetic information can be
passed on to offspring.
DNA replication is necessary for mitosis and meiosis to occur
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 prerequisite of life
OUTLINE, USING A SIMPLE MODEL, THE PROCESS BY WHICH DNA CONTROLS THE
PRODUCTION OF POLYPEPTIDES

Each gene is a certain sequence of bases along a DNA strand, and is the information
required to make a particular polypeptide.
o Each triplet of bases, called a codon, codes for one amino acid

61 different codons specify 20 different

amino acids
Messenger RNA (mRNA): a ribonucleic acid
which carries information from DNA in nucleus to
ribosomes in cytoplasm
Transfer RNA (tRNA): a ribonucleic acid
consisting of a single strand, which brings amino
acids to the ribosome to be linked together
o A different type of tRNA for each amino acid
Each tRNA contains an anticodon
which is complementary to a codon
on mRNA
Ribosomes: Made up of 2 subunits, and act as
site for protein synthesis in cytoplasm
o 3 binding sites to hold mRNA strand and 2
tRNA molecules together temporarily
o

Transcription: process by which information on DNA is copied onto an RNA molecule

1) DNA strand in nucleus unwinds in area of required gene
2) RNA polymerase moves along the strand linking complementary
RNA nucleotides to form the pre-mRNA strand
o Start (AUG) and stop (UAA, UAG, UGA) codons (on RNA)
control length of mRNA strand
o Uracil (U) replaces thymine (T) as the complementary RNA
nucleotide of Adenine (A)
3) After the whole gene is copied, introns (non-coding regions) are
spliced from the pre-mRNA and exons (coding regions) are joined
together to form mRNA
4) A poly-A tail, and a methylguanosine chemical cap, are added.
The chemical cap assists in binding the mRNA to ribosomes.
5) Modified mRNA moves from nucleus into cytoplasm
Activation of Amino Acids:
In cytoplasm, an enzyme attaches amino acids to their respective tRNA molecules
Translation: process by which information on RNA molecule is used to make a new protein
1) mRNA and 2 tRNA molecules attach to ribosome
o mRNA strand binds on to ribosome at the end with start codon AUG
o Anticodon UAC on the tRNA carrying amino acid methionine binds to start codon
AUG on mRNA within the ribosome
o Second tRNA binds to the next mRNA codon
2) The 2 amino acids link by a peptide bond
3) Previous tRNA is released from ribosome, ribosome moves along mRNA strand one codon
at a time, another tRNA binds within the ribosome and its amino acid links up to the
previous. This step is repeated

4) When a stop codon is reached the polypeptide chain is

released into the cytoplasm
5) Further processing is necessary before final protein is formed,
polypeptide chain is only primary structure

as

EXPLAIN THE RELATIONSHIP BETWEEN PROTEINS AND

POLYPEPTIDES

Polypeptide: a single chain of amino acids

o Many proteins are made up of more than one
polypeptide
Polypeptide chain forms primary structure
Folding/arrangement of polypeptide chain forms
secondary/tertiary structures
Joining of multiple polypeptides forms quaternary
structure, and makes a complete protein

PERFORM A FIRST-HAND 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

George Beadles experiments on Drosophila fruit fly indicated that genes somehow
affected eye colour in the fly
o He found that mutant eye colour was caused by a change in one protein
o Concluded that genes must influence heredity chemically (e.g. via proteins)
George Beadle and Edward Tatum used X-rays to produce mutated strains of a bread
mould, Neurospora crassa
o Each strain lacked a different enzyme on the metabolic pathway to synthesise the
essential amino acid arginine, and hence could not grow normally
o By growing the different strains with different nutrient combinations, they were able
to establish which enzyme was lacking in each mutant strain
Also found that each genetic mutation was at a specific locus on moulds
chromosome
o Concluded that different gene loci were associated with the production of each
enzyme, leading to one gene, one enzyme hypothesis
Altered to one gene, one protein hypothesis because some genes produced proteins
which were not enzymes, e.g. keratin, haemoglobin
Altered to one gene, one polypeptide
o The enzymes that Tatum and Beadle studied consisted of one polypeptide, but
many proteins are made up of more than one polypeptide
Polypeptide: a single chain of amino acids
o Therefore, one gene is a portion of DNA specifying a single polypeptide chains.
Several genes may be required to specify a complete enzyme or other protein

PROCESS INFORMATION TO CONSTRUCT A FLOW CHART THAT SHOWS THAT CHANGES IN

DNA SEQUENCES CAN RESULT IN CHANGES IN CELL ACTIVITY

1)
2)
3)
4)

Changes in DNA sequence

Polypeptide chain is formed via transcription/translation with changes in amino acid sequences
Final protein has a changed primary structure
Arrangement of amino acids determines forces and bonding between polypeptide chains, so
proteins shape is altered
5) Proteins function depends on its shape, so malformed protein may function incorrectly or not
function at all
6) Proteins are vital to cell activity. Incorrectly functioning protein will result in changes in cell
activity.
_________________
If there is a simple substitution for a single base pair on a strand of DNA such as a G-C
replaced by A-T, this will result in a different amino acid codon forming a different
polypeptide.
If one base pair is lost from the sequence there will be a shift along the DNA molecule,
producing vastly different polypeptides. E.g. loss of thymine shown below

Cell activity is controlled by enzymes. Enzymes are formed from chains of polypeptides. If
the chain of amino acids forming the polypeptide is not in the right sequence, then the
enzyme formed will not be functional, and cell activity will be affected.

EXPLAIN HOW MUTATIONS IN DNA MAY LEAD TO THE GENERATION OF NEW ALLELES

Mutations: changes in DNA information on a chromosome

Any change in the base sequence in DNA results in changes to the polypeptides that are
produced and is a source of new alleles.
To produce changes in alleles, the mutation must occur in the sex cells of the organism
which are then passed on to the next generation.

Point mutation: change in a single nucleotide

Substitution: one base is replaced by another base
Deletion: one or more bases are lost from a chromosome
Insertion: an extra base inserted into the DNA
Frameshift: insertion or deletion of a base changes codon sequence along DNA strand,
drastically changing the polypeptide produced

Duplication: extra copy made of a sequence on same chromosome

Amplification: many extra copies of a sequence are found on a chromosome

Inversion: DNA sequence breaks and reattached the wrong way around
Translocation: a piece of DNA from one chromosome joins on to another chromosome
Position effect: when a changed DNA sequence affects genes near it
Aneuploidy: abnormal chromosome number
o A pair of chromosomes may fail to separate during meiosis (nondisjunction)
On fertilisation, there will be either too many or too few chromosomes
o E.g. Down syndrome
Polyploidy: one or more extra sets of chromosomes
o All duplicate chromosomes may fail to separate during mitosis
Resulting cell has double the normal chromosome number
o If it occurs in the zygote, whole new organism will be polyploid
o Polyploid fruits/flowers are usually larger than normal and plants grow more
vigorously

Radiation:
Ultraviolet radiation can cause deletion (bases in DNA strands to be lost)
o To repair this, enzymes in organisms body may randomly incorporate bases into
the gap, resulting in a mutation
o Also may cause thymine bases in same DNA strand to link together, which means
replication cannot occur normally, causing cell death
Other forms of radiation may break up DNA strands, or even break up whole chromosomes
o Results in mutation or cell death, depending on amount of damage to genetic
material
Chemicals:
Tautomeric shift: Chemicals may alter double bonds and position of hydrogen atoms in
DNA, causing changes in chemical shapes of bases
o Changed bases do not pair as usual during replication, resulting in production of a
mutated DNA strand
Some mutagens are carcinogens and may cause cancers
Deamination: DNA base has amino group in its molecule replaced by a different group
o On replication, usual pairings do not occur, resulting in a mutated DNA strand
_________________________
Induced mutation
o Plants are often deliberately exposed to mutagens, and scientists look for desirable
changes in the offspring, such as resistance to specific diseases
DISCUSS EVIDENCE FOR THE MUTAGENIC NATURE OF RADIATION
Mutagen: a natural or human-made agent which can alter the structure or sequence of DNA.
Mutagens can be carcinogens (cancer causing) or teratogens (birth defects causing)
Most of the first generation of scientists who worked with radiation died of cancer, e.g.
Marie Curie died of leukaemia
Hermann Muller received the Nobel Prize for showing that genes had the ability to mutate
when exposed to X-rays
o Employed X-rays to produce point mutations in fruit fly Drosophila
o Discovered that rate of mutation increased linearly with amount of radiation
received
Beadle and Tatum used X-rays to produce mutations in bread mould, to formulate their
one gene, one polypeptide hypothesis

Chernobyl nuclear accident has caused an estimated 32 000 deaths already

o Research indicates that incidence of cancer caused by radiation-induced mutation
from Chernobyl is expected to peak in 2005
o It is estimated that there is a 100 times increase in mutation rate among the
descendents of victims of the Chernobyl nuclear accident
Atomic bombs dropped on Hiroshima and Nagasaki released radiation. There was a tenfold
increase in cancer deaths directly after the bombs were dropped.

EXPLAIN HOW AN UNDERSTANDING OF THE SOURCE OF VARIATION IN ORGANISMS

HAS PROVIDED SUPPORT FOR DARWINS THEORY OF EVOLUTION BY NATURAL
SELECTION

Sources of variation:
o Mutations in chromosomes and genes
o Random and independent segregation of chromosome pairs in meiosis
o Crossing over of pieces of homologous chromosomes during meiosis
o Random fusion of gametes in sexual reproduction

This genetic variation is expressed in phenotype of an organism

Some phenotypes survive and reproduce better that others in a given environment
As a result of natural selection, individuals with particular genotypes become more
common
o Increased understanding of sources of variation among individuals in a species, has
supported Darwins theory of evolution by showing us how the variation in a
population which is a fundamental postulate for Darwins theory, has come about.
o Increased knowledge of genetics (how characteristics are passed on to offspring on
chromosomes) has also supported Darwins theory of evolution

Prolonged isolation and exposure to different selection pressures, may result in such
different genotypes that breeding between the two groups cannot occur successfully (2
species formed)
o Geographic isolation: e.g. a mountain range separates the two groups
o Behavioural isolation: organisms do not breed even if they occupy the same
region, due to different courtship patterns, mating calls,
etc.
Genetic drift occurs when random changes occur in the
types/frequencies of genes in a small, isolated population,
leading to evolution of new species
Founder effect: genetic drift where a very small population
becomes geographically isolated from original population,
leading to a loss of genetic variation (see image)

DESCRIBE THE CONCEPT OF PUNCTUATED EQUILIBRIUM IN EVOLUTION AND HOW IT

DIFFERS FROM THE GRADUAL PROCESS PROPOSED BY DARWIN

Darwins theory of evolution: populations change gradually over time

o In fossil record, we should expect to see a long sequence including intermediate
forms, recording gradual change from ancestor to descendent
o But fossil record shows periods of genetic stability followed by episodes of mass
extinctions and rapid change

Eldridge and Goulds theory of punctuated equilibrium proposes that there have
been periods of rapid evolutionary change followed by long periods of stability/equilibrium
o If an environment remains stable, there would be little change in organisms. Natural
selection only occurs when conditions change.
How punctuated equilibrium works
o When rapid change occurs in an environment, organisms either move out of the
area or die
o Small isolated pockets of organisms may survive near or away from disturbed
environment
o Small populations change at faster rate that large populations, resulting in sudden
appearance of new species

PROCESS AND ANALYSE INFORMATION FROM SECONDARY SOURCES TO EXPLAIN A

MODERN EXAMPLE OF NATURAL SELECTION
Amongst large numbers of bacteria offspring, some individuals may carry genes that give them
resistance to antibiotics. These individuals are then able to survive and reproduce with reduced
competition from other members of the same species. Each generation will produce a higher
percentage of individuals containing the resistant genes. The initial use of an antibiotic results in
good protection from bacteria. Over time the chemicals become less and less effective.
Chemicals, such as dieldrin and organophosphates, have been used extensively to control the
sheep blowfly. However, genetic resistance has occurred within the fly population that has made
these chemicals ineffective. Continued use of the insecticide has resulted in the mutation of a
modifier gene that increases and maintains the resistance.

5. 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

Artificial insemination: injection of male semen into a female

o Sperm is collected from a male with desirable characteristics, easily transported
over large distances and used to inseminate many females and produce many
offspring
o Allows for the desirable characteristics from a male to be very efficiently brought
into a population, resulting in fast changes in the genetic composition of the
population
Artificial pollination: dusting fertile stigmas with pollen from plants with desired
characteristics
o Allows genetic changes to quickly become widespread within populations, as
desirable characteristics are spread through the population much faster than by
natural breeding methods
Cloning: producing genetically identical organisms
o Provides genetic copies of animals with desired features more rapidly than by
traditional breeding techniques, and hence quickly alters the genetic composition
of the population favourably

Whereas desirable characteristics may be lost in some

offspring of artificial insemination/pollination due to
random segregation and crossing over, cloning ensures
that offspring produced have the desired trait
Over generations, genetic variability within the species
is reduced

PROCESS INFORMATION FROM SECONDARY SOURCES TO

DESCRIBE A METHODOLOGY USED IN CLONING

Plants may be cloned by tissue culture

1) Tissue is taken from the root tip
2) Cells are broken free in a blender
3) Cells are grown in a nutrient-rich medium, where they become unspecialised cells
called calluses
Composition of medium is altered depending on what type of plant
4) Treatment with appropriate plant hormones causes the calluses to develop into
seedlings, and then into mature, genetically identical plants

Animals (e.g. Dolly the sheep) may be cloned using nuclear transfer technology
1) Nucleus from a body cell of organism to be cloned is inserted into an egg cell with
nucleus removed
An electrical stimulus is used to fuse nucleus with an enucleated egg cell and
to stimulate cell division
2) At a certain stage in cell division, the embryo is implanted into a female surrogate
mother
3) Embryo develops and ultimately forms a new organism which is genetically
identical to the individual that contributed the nucleus

OUTLINE THE PROCESSES USED TO

PRODUCE TRANSGENIC SPECIES AND
INCLUDE EXAMPLES OF THIS PROCESS AND
REASONS FOR ITS USE

Biotechnology: the use of various

techniques to change living organisms at
a molecular level
Transgenic organism: an organism
which has some of its DNA from another
species
o A genetically modified
organism (GMO) is not a
transgenic species unless it is able
to pass on its genetic modification
to the next generation (reproduce)
Transformation: when transfer of DNA
occurs between species
Hybridisation: the production of an individual resulting from 2 genetically unlike parents

Steps in production of transgenic species:

1) A useful gene, and chromosome its on, are identified
2) The gene is isolated from its DNA strand using restriction enzymes
3) Recombinant DNA may be made by combining DNA from different species via annealing
4) Promoter DNA sequences for regulation may have to be added for the gene to work
5) Multiple copies of the gene may be made by Polymerase Chain Reaction (PCR)
6) Gene is inserted into the cell of another organism
Isolating genes using restriction enzymes
o Special restriction enzymes (restriction endonucleases) found in bacteria are used
to cut a useful gene out of its DNA strand
o Each type of restriction enzyme cuts at a specific point in a sequence of nucleotides
Cut ends are known as sticky ends
Making recombinant DNA by annealing
1) DNA strands from 2 different organisms are cut using same restriction enzyme, and
then DNA pieces from each are mixed together
2) Matching sticky ends will be attracted to each other and connect up
3) DNA ligases are added to annealed DNA fragments to seal and strengthen the
bonds of new recombinant molecules
Addition of promoter sequences

An isolated gene cannot function; it needs a

promoter sequence attached to ensure that the
gene will work
o Promoter sequences on DNA strand regulate when
the gene is active, how much protein is made, and
in which cells the gene will function
Polymerase Chain Reactions (PCR) to make copies
of genes
For large scale genetic engineering, many
copies of useful genes must be made
1) DNA molecule containing required gene, DNA
polymerase, and a large quantity of the 4 nucleotide
bases and primers are mixed together
2) Mixture is heated at 98C for 5 minutes to separate
the 2 DNA strands
3) Mixture is cooled to 60C. Primers anneal to ends of
separate DNA strands. DNA polymerase catalyses
synthesis of complementary DNA strands, resulting
in double the original number of DNA molecules
4) Repeated cycles of heating and cooling (every 2
mins) produces large quantities of required
DNA
Inserting genes into bacteria using plasmids
Plasmids (small circular pieces of DNA in
bacteria) can be used as vectors to transfer
genes into bacteria
1) Same restriction enzyme splits human chromosome
with
required gene and the bacterial plasmid with a
gene for
antibiotic resistance. The required human gene joins
with plasmid
via annealing and DNA ligases. Many copies of
the gene are made with PCR.
2) Treating bacteria with cold calcium chloride
and heat softens bacterial wall, allowing plasmid
to penetrate some of the bacteria.
Bacteriophages (viruses that infect
bacteria) can also be used as vectors to
insert genes into bacteria.
3) The bacteria are cloned rapidly in a medium
with antibiotic. Since the bacteria which took up copies of the plasmid have
antibiotic resistance from the same plasmid, only these bacteria will survive. In
effect, the antibiotics select only the transgenic bacteria.
4) Bacteria are cultured, and hormones produced by modified bacteria are harvested
and used to treat people
o Human genes that code for production of insulin and human growth hormone have
been inserted into bacteria
Insulin treats people with insulin-dependent diabetes
Human growth hormone treats children with specific growth defects
Ti (tumour inducing) plasmid insertion: Inserting genes into plant cells using a soil
bacterium
o Agrobacterium tumefaciens naturally causes disease by inserting a plasmid into a
plant cell
1) Recombinant plasmid introduced into Agrobacterium
o

2) Co-culture of transformed Agrobacterium with isolated plant cells, yields

transformed plant cell
3) Plant cells grow into a callus in nutrient medium, and callus yields healthy
plantlets with new traits
Microinjection: Genes can be transferred into animal cells using very fine glass
micropipettes
Particle guns can be used to shoot DNA-coated microscopic gold/tungsten pellets
directly into cells
Electroporation uses electric pulses to create small pores in the nuclear membrane
through which DNA is inserted
An example of a transgenic species is genetically engineered salmon which have the gene
coding for the protein bGH (bovine growth hormone)
DISCUSS THE POTENTIAL IMPACT OF THE USE OF REPRODUCTION TECHNOLOGIES ON
THE GENETIC DIVERSITY OF SPECIES USING A NAMED PLANT AND ANIMAL EXAMPLE
THAT HAVE BEEN GENETICALLY ALTERED
Plant:
Bacillus thuringiensis (Bt) is a bacterium that produces toxins that kill insects
o Toxins are specific to a few species of insects, and are broken down in sunlight
o Pesticide sprays containing dead Bt bacteria are used successfully on crops
Genetic engineering: inserting Bt genes that make Bt toxin directly into plants
o These tomatoes, corn, potatoes and cotton produce toxin continuously, so are more
resistant to insect attack
There are concerns that the target insects will become resistant to Bt chemicals
If more farmers plant genetically modified crops, then local varieties will die out at an
increasing rate
If Bt cotton become standard cotton crop, then other varieties will be lost, and species
itself may become vulnerable if environmental conditions change
o Large genetic variety is essential for species to survive significant environmental
changes
Animals:
The gene coding for the protein, BGH (bovine growth hormone), has been incorporated
into the genes of salmon.
Outcome larger, faster growing fish
The fish are kept in ponds that offer no escape to the wild because of concern that they
will reduce biodiversity in natural ecosystems
Genetic Diversity:
Biodiversity is needed to provide clean water, air, productive soil, and recycle matter
Biodiversity is essential to enable new chemical structures to be discovered which will
benefit humans (food)
o E.g. Acacia seeds from Australia may enhance diets in Africa
Biological diversity offers great opportunities for discovering living resources essential to
human survival (medicine)
o E.g. Prostaglandin E2, a substance which could treat gastric ulcers, was discovered
in gastric-brooding frogs (thought to be extinct)
*Moving genes from species to species may increase genetic diversity
*Cloning can be used to preserve the numbers of endangered species and thus maintain
genetic diversity

However, cloning also reduces genetic diversity as offspring are identical to each other
and their parent organism

ANALYSE INFORMATION FROM SECONDARY SOURCES TO IDENTIFY EXAMPLES OF THE

USE OF TRANSGENIC SPECIES AND

Bt cotton which produces a chemical that kills some insects

Blue gene extracted from petunia is introduced into carnation plant cell by recombinant
plasmid, to make a blue carnation: Moondust
Herbicide tolerant soy bean, corn, potato
o Also higher yielding and lower costing
Transgenic sheep that can secrete the protein alpha-1, used to treat human lung disease
Salmon with bovine growth hormone gene
Potato plants:
A pea gene for lectin has been incorporated into potato plants.
Outcome protects against insect attack. Lectin is a protein which interferes with
digestion in insects.
Evaluation Protection against insect attack improves the success of growing potatoes.
Concerns exist about controlling the escape of these transgenic potatoes into the wild, as
they may outcompete other varieties and reduce genetic diversity
USE AVAILABLE EVIDENCE TO DEBATE THE ETHICAL ISSUES ARISING FROM THE
DEVELOPMENT AND USE OF TRANSGENIC SPECIES

Effects on transgenic species

o E.g. cows treated with genetically engineered bGH (bovine growth hormone)
increase milk production
Risk of mastitis, infection to the nipple
Moral questions about creating transgenic species
o Lab mice bred to automatically develop diseases for scientific study
o Should we be tampering with nature in this way?
o Is it right to change living organisms for commercial gain?
Concern over return of the eugenics movement
o Selective breeding of desirable traits, similar to actions of Nazi Germans
Genetically engineered organisms may create strains of resistant diseases
Genetically modified foods may cause harm when eaten