Bio6.Blueprint of Life

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keep it simple science Baulkham Hills High School SL#802445

HSC Biology Topic 2
BLUEPRINT of LIFE
What is this topic about?
To keep it as simple as possible, (K.I.S.S.) this topic involves the study of:
1. EVOLUTION
2. MENDELIAN GENETICS
3. CHROMOSOMES & DNA STRUCTURE
4. MOLECULAR GENETICS & MUTATION
5. REPRODUCTIVE TECHNOLOGIES &
GENETIC DIVERSITY
but first, an introduction...

Evolution Chromosomes & DNA
In earlier topics you have already been introduced to You will next move on to study things that Darwin &
the concept of Biological Evolution, and the Mendel would have been delighted to have known...
mechanism of “Natural Selection”. Now you will the cellular and molecular basis of Genetics and
study in more detail the evidence for evolution and Evolution. You will see the link between inheritance,
Theory of Evolution.
cell division, chromosomes and the basis of it all...
the DNA molecule and the Genetic Code.
Simulated
Photograph of
Human
Chromosomes
Part of a DNA
Photo: Sasan Saidi molecule
Genetics
The science of inheritance was discovered about
150 years ago by a monk living in an obscure
monastery in central Europe. In this topic you will A section of DNA carries
a code to specify one
study the simple patterns of inheritance that he feature of the organism;
discovered. = a gene
In the section on Molecular Genetics you will

learn how the DNA acts to control all the
characteristics of each organism (the “phenotype”)
and how Mutations can occur to alter the code and
produce new characteristics for evolution to work on.
In the final section you will look briefly at where

modern Biology is heading into Reproductive
Technologies and Genetic Engineering.
Gregor Mendel (1822-1884) experimented with (This controversial area can be studied more
garden peas for 12 years. You will study his results
thoroughly in one of the later Option topics)
and the reasons for his success as an experimenter.
HSC Biology Topic 2

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CONCEPT DIAGRAM (“Mind Map”) OF TOPIC
Some students find that memorizing the OUTLINE of a topic helps them learn and remember the concepts and
important facts. As you proceed through the topic, come back to this page regularly to see how each bit fits the
whole. At the end of the notes you will find a blank version of this “Mind Map” to practise on.
Divergent Pedigrees
His results and Alleles & genes.
& Family trees
•Palaeontology explanations Homozygous,
Convergent
•Biogeography heterozygous.
Evolution
•Comparative Genotypes & Punnett
Embryology Natural
phenotypes squares
•Comparative Selection,
Anatomy Survival of
• Biochemistry the Fittest Mendel’s
experiments, Dominant-Recessive
and the reasons inheritance.
for his sucess Monohybrid crosses
The THEORY of
The EVIDENCE EVOLUTION DNA
for Evolution structure
Mendelian
Genetics
Evolution Chromosomes,
genes
&
DNA
Meiosis &
Chromosomes gamete
THE BLUEPRINT & formation
OF DNA
LIFE
Sources of
variation
Non-Mendelian
Inheritance.
Sex-linkage
&
Reproductive Codominance
Technologies
& Some history
Genetic Diversity of our
understanding
Molecular Genetics
&
Mutations DNA
Replication
Artificial
insemination and
pollination.
Cloning Genetic
Engineering and Mutation DNA
& Transcription &
“Transgenic Translation
mutagens
species”
Effects on genetic
diversity Punctuated The link to The link to
Equilibrium evolution phenotypes
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1. EVOLUTION
The Evidence for Evolution Fossils of “Transitional Forms”

There is overwhelming evidence that life on Earth has Only a tiny fraction of all the zillions of organisms that
undergone a sequence of changes over the past 3.5 billion have ever lived have ended up being fossilized. The fossil
years or so. Here, briefly (K.I.S.S. Principle) are the main record is, therefore, incomplete and a rather patchy record
sources of that evidence: of evolution.
Palaeontology The Study of Fossils Despite this “patchiness”, there are some fossils that have
The fossil evidence is undoubtably our most important, given us a glimpse of the change that occurred when one
direct evidence showing that life on Earth has changed. type of life was evolving into another. Such fossils are
called “Transitional Forms”
The fossils not only show that life was once different, but
that the changes follow a pattern or sequence... Perhaps the most famous is Archaeopteryx.
...this is evolution. (“Archae”= ancient, “pteryx”= wing)
When this fossil was first discovered, its skeleton was
clearly that of a small dinosaur. Only later was it noticed
ANCIENT TIMES MODERN TIMES
that the faint outlines around the fossil were the
impressions of feathers. This was a dinosaur-bird!
Less complexity More complex types
Less variety Greater variety
Reconstruction of Archaeopteryx
Less like More and more
present-day life resembling
modern life
Bony tail
How do we know this to be fact? Not only do we have covered in
many fossils of extinct organisms, but we can place them feathers
in time sequence to see the patterns.
Sediments are laid down on top of the previous

layer, so the lower layers are older.
Rocks and fossils Rocks and fossils
location 1 Bony jaw
location 2
with teeth
youngest Clawed wings

fossil
It is very unlikely
he pla te
ot e ela
ce
that Archaeopteryx
an on orr
could fly like a

to om ls c
modern bird. It may

r
fr ssi
have climbed trees &

fo
glided down on
insect & lizard prey
Oldest
fossil Transitional fossils are important evidence that each new
type of life that “appears” in the fossil record did in fact
evolve from a previous ancestor. Scientists have discovered
Initially, scientists could only place fossils in relative time transitional fossils showing:
order by correlating the sequences, as suggested in the
diagram above. • reptiles evolving to become mammals
• ferns evolving to become cone-bearing plants
Now we can also place absolute times on many fossils by • lobe-finned fish evolving to become amphibians
“Radiometric Dating”... the determination of the actual
age of things by measuring the residual radioactivity of ...and many more, including fossils of our own
certain, naturally-occurring radio-isotopes in the rocks. probable ancestors, who were very ape-like, but
(To revise this more thoroughly, see Preliminary Topic 3 undoubtably human-like too!
“Life on Earth” page 4)
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Biogeography (the study of how life is distributed) Comparative Embryology
When Charles Darwin travelled around the world on board If the embryos of various vertebrate animals are compared,
HMS Beagle in the 1830’s, it was the distribution of different it is found that they are remarkably similar, even though
types of life in different places that first gave him the idea they later develop into quite different animals.
for Evolution.
Some Vertebrate Embryos...
He noticed that each continent had its own characteristic
biota, often showing similar features although often not
closely related to each other. For example, each continent
has characteristic grazing mammals:
Luis Rock African
Antelope
OZ
Roo
Photos: Diana
...and
what they develop into
Sth
American
Why should they be so similar when they grow up to be
Llama very different animals? Why should (for example) a human
Steve Clayton North American Bison embryo have a tail and gill arches like a fish?
All these animals are relatively large, fast-running, with flat Evolution explains this as the result of all these
grinding teeth, and all lead pretty much the same lifestyle. animals evolving from a common ancestor
So why is there not just one type of large grazer in the which had an embryo like this.
world, living on every continent?
Evolution explains why. On each separate continent Comparative Anatomy

different animals have evolved to fill the “large grazing When the body structures of different organisms are
herbivore” role, often beginning that evolution from an compared, it is often obvious that they share common
ancestor quite different to that on other continents. features, even though those body parts might be used in
(“Penta”= 5, “dactyl”=fingers)
different ways.
Another aspect of Biogeography was seen by Darwin on a
much smaller scale in the Galapagos Islands. He discovered The classic example of this is the Pentadactyl Limb
that the islands were populated by many different species of structure of the vertebrate animals.
small birds... finches. Although all were obviously related to
each other, each separate island had its own particular species. Some Vertebrate Forelimbs (Arms)
(Not to same scale)
Ancestral Finch
1 bone in
upper arm
2 bones in Cat
forearm Leg
Island 1 Whale Lizard

Bat
Island 2 Island 3 Flipper Leg
5 digits Wing
Human
Why? Arm
The explanation is: Each limb is used in very different ways by animals that
• the islands were first colonized by one type of finch, have very different lifestyles, yet all have exactly the same
which spread to all of the islands in the group. basic arrangement of bones. Why?
• on each separate island conditions were different
(eg different foods available) so each population evolved Evolution explains this as the result of all these
in a different way, into a different species. animals evolving from a common ancestor
which had this bone structure.
BIOGEOGRAPHY doesn’t prove Evolution has
occurred, but many facts about the distribution Once again, these are FACTS that are consistent with, and
of organisms are best explained by Evolution easily explained by, the concept of EVOLUTION.
HSC Biology Topic 2

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Biochemistry Selective Breeding
All the life-forms on Earth have remarkable similarities at Humans have “domesticated” many plants and animals
the molecular level. All organisms have basically the same: such as cattle, sheep, chickens, dogs, rice, wheat, tomatoes,
and so on. Over thousands of years, human farmers and
• genetic code in their DNA breeders have had control over the breeding of these
• enzymes used for basic metabolic processes, such as organisms. Often a farmer or animal keeper will choose
cellular respiration very carefully which individuals will be allowed to breed,
• structural chemicals in their basic cell components, always selecting the best ram to breed with the ewes, or
such as the phospholipids in cell membranes. seeds from the best plants to sow for next year’s crop.
WHY SHOULD ALL ORGANISMS The result is that these species have changed.
HAVE THE SAME STRUCTURES
AND CODES IN THEIR All varieties of domestic dog, for example, belong to the
DNA? same species, and all are believed to be descended from the
wolf which may have been domesticated as the first
“puppy” about 12,000-15,000 years ago.
Side-ttrack
Once again, this doesn’t prove that evolution

occurred, but it is consistent with the idea that Photos by
life on Earth has evolved from common ancestors Diana
who had these biochemical features.
“SPIKE”
How New Technologies are Changing Our
Ideas About Evolutionary Relationships
The new technology of analysing the sequence of DNA
molecules is changing our ideas about the evolutionary
relationships between living things.
For example, the evolutionary relationship between

LIZARDS, CROCODILES and BIRDS. Selective Breeding
proves that a species can be changed.
Traditionally crocodiles & lizards are classified as “Reptiles” Humans can do it artificially,
and considered a separate class to the “Birds”. It was always in the wild it happens by “Natural Selection”
thought that the lizards and crocodiles were closer in an
evolutionary sense, and shared a common ancestor closer
together than either was to the birds.
Based on structural
similarities & differences The preceeding pages
CLOSELY have outlined the facts &
RELATED More
Distant evidence for what has
This relationship has been overturned by DNA analysis. happened.
DNA sequencing shows that birds and crocodiles are more
closely related to each other than either is to the lizards.
Based on DNA analysis

Next we look at the
how & why...
CLOSELY RELATED
More Distant The Theory of Evolution,
Stand by for more revelations as DNA analysis reveals more!
by “Natural Selection”
HSC Biology Topic 2
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Darwin & Wallace More on “Natural Selection”
In the 1830’s a young naturalist, Charles Darwin (1809-1882), The following is revision material from Preliminary Topic 4
voyaged around the world on the naval survey ship HMS and needs to be understood...
Beagle. He became convinced that living things had changed,
and spent the next 20 years researching, gathering evidence “Natural Selection” refers to the way that the conditions of nature
and developing the “how” of a theory to explain evolution. constantly select who survives and who dies. If survival depends on
speed to run from a predator, then the faster individuals survive and
the slower ones get eaten. In a drought those plants with slightly
thicker cuticle on their leaves conserve water and survive, while
others die.
Any characteristic might be a help to survive under different

conditions...
• a better immune system helps, when diseases strike...
• more inquisitive behaviour might find more food...
• more timid behaviour might avoid dangers...
• brighter coloured flowers might attract pollinators...
• larger body size might deter predators...
Meanwhile, another Englishman, Alfred Wallace (1823- • smaller body size might allow more food gathering on the
1913) came up with exactly the same idea after his journeys ends of small branches of trees.
in the 1840’s and 1850’s. We often give Darwin most of the
It is difficult to predict exactly which characteristic, or combination
credit for this major scientific theory, but Wallace’s of characteristics, might help survival... it depends on what happens
contribution should not be forgotten. in the environment:
HOW NATURAL SELECTION WORKS
In 1859 they jointly published an outline of their theory,
and Darwin followed up with his detailed book “Origin of A population of a species with a lot of “variations”
Species” about 2 years later.
The Darwin-Wallace Theory of Evolution

You need to learn the details of this theory. This is best hairy long legs big ears
done as a series of numbered points:- long neck dark colour squat body
Then, the climate changes...

1. All organisms produce more offspring than can survive. winters get colder
Plants scatter thousands of seeds and maybe only one ever

Many die in the harsh winters
makes it to plant maturity. Oysters produce a million eggs
at a time, but only 1 or 2 survive. In all species, the breeding
rate is higher than the survival rate. hairy survives Squat survives
The survivors
2. In every species there is variation among the individuals. pass on their
Survivors breed
Each animal or plant is slightly different to the other characteristics.
Over generations
members of the species. The differences may be slight, and most of the
might not be easily visible, but they’re important! population
become squat
and hairy.
If you put points 1 & 2 together, you can see that survival The species has changed... it has evolved by adapting to changes in
is uncertain, AND the chances of survival are not equal for its environment.
each individual.
It may seem as if “Evolution” is an intelligent force which directs
3. Nature selects which individuals survive. organisms in a an appropriate direction. In our fictitious population
This is called “Natural Selection”, and it is explained in of animals, the climate became colder and it would seem that some
more detail soon. evolutionary force caused an appropriate change in the population...
they became squat & hairy to conserve body heat better.
4. Those best suited to their environment survive, and
reproduce, and pass on their characteristics to their But of course “squat” and “hairy” were already in the population.
offspring. This is called “Survival of the Fittest”, and it Their type simply became more common, and finally predominant,
will be discussed in more detail later. because they survived in greater numbers and reproduced to pass on
their characteristics to their offspring.
5. Over generations, the species changes (Evolves) as each
generation is slightly different than before, because only Evolution is not intelligent. Nature selects the survivors from the
some, selected individuals have bred and passed on their different “types” available. Survivors breed... if you’re dead, you
characteristics. can’t reproduce!
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More on “Survival of the Fittest” Effects of Changing Conditions
“Survival” does not just mean survival. The biggest Environments can change in many different ways. For
toughest animal in the herd, who scares predators away, example, we know that ice-ages come and go, and climates
gets to eat most of the food and lives to a ripe old age, is a change as the continents gradually “drift” to new locations.
complete failure if it does not reproduce! Any change in an environment will result in Natural
Selection picking out different characteristics for survival
and the species will evolve in line with the environmental
In evolutionary terms “Survival” means to survive and
change (OR, if the change is sudden and drastic, there will
reproduce. Reproduction is the true measure of “survival”. be fewer survivors every generation and the species will
An animal which does not live long, but manages to decline into extinction!)
produce many, viable offspring is an evolutionary success!
The following case studies serve to make this point, and are
“Fittest” refers to those individuals with a combination of also examples of observed “micro-evolution” providing
characteristics best suited to their environment. It doesn’t further evidence that Evolution by Natural Selection can
necessarily mean biggest, fastest, strongest... those best and does occur.
suited to some environments might be the smallest,
sneakiest, most cautious types. A Change in the Physical Environment
A classic example is the change in the population of the
English Pepper Moth which has been studied and
documented over the past few hundred years.
... or the most charming
and socially acceptable This moth always rests during the day on tree trunks, which
in natural forests, are mostly covered in motley-patterned
lichens. Under these conditions the light “peppery” moths
are the most common form, although occasional black
moths occur.
In unpolluted forests,
the lighter-coloured Lighter-coloured
moths are camouflaged moths survive and
breed in greater
st” numbers
tte
“fi
are
ths
t mo
Ligh
Predators spot the black

moths more easily
The Importance of Variation Population ratio
It is vital for the on-going survival of a species that it has During the coal-burning phase of the Industrial Revolution
variation among the individuals of the population. many forests were damaged by pollution. The lichens were
killed and tree trunks blackened with soot.
When changes occur in the environment, a species with a
lot of variation has more chance to survive, because out of It was observed that the Pepper Moth population changed
all the different “types” there is a good chance that at least in the proportion of peppery to black types.
some will survive to breed and continue the species. In polluted forests, the Black moths survive
black moths are and breed in greater
camouflaged numbers
A species with little variation within it, might have no
”
st
survivors from an environmental change, and become

tte
“fi
extinct.
e
ar
hs
ot
m
What constitutes an environmental change? It could be...

ck
a
• a change of climate
Bl
• a new disease, predator or competitor in the ecosystem

Predators spot the light
• a change in availability of a food resource moths more easily Population ratio
...or any other biotic or abiotic factor.
Now that industrial pollution has been stopped, the moths
have evolved back to being mostly of the peppery type.
HSC Biology Topic 2

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A Change in the Chemical Conditions Divergent Evolution (“Diverge” = move apart)
of the Environment One of the aspects of evolution to be aware of is the
Another example of “micro-evolution” was observed when importance of Isolation.
DDT insecticide began to be used against a variety of insects,
such as disease-carrying mosquitoes or crop-eating pests. Rember Darwin’s finches on the Galapagos Islands?
Ancestral Finch
Initially, the chemical was a huge success, decimating the
insect populations. But then Natural Selection did its
thing... More
Among the millions of insects in each population there was

variation. A few individuals had a natural resistance to the
Island 1
DDT and they survived and reproduced and passed on Island 2 Island 3
their resistance to their offspring. Over many generations
the non-resistant types were killed, and resistant types kept From one ancestral species of finch over a dozen different
surviving and breeding until almost the entire population species evolved, one on each of the islands in the group.
was resistant. DDT was no longer useful for killing insects. The key to this “Adaptive Radiation” is the fact that once a
(Just as well too, because it was later discovered to have population of finches colonized a new island they were
some negative environmental impacts on other species) isolated from other populations. Movement of birds
between islands must have been a rare event, and each
The DDT in the chemical environment acted as a population was effectively cut off from other populations.
“Selecting Agent” resulting in the evolution of the insects
by natural selection and survival of the fittest. On each island conditions were different... different foods
were available, different conditions of water supply, shelter,
Competition for Resources nesting sites, predators and so on. Natural selection caused
In a previous topic it was pointed out that competition each population to evolve along a different path until they
between 2 species for the same resources usually results in became different species... they had diverged!
a “winner” and a “loser”... the loser becoming extinct, at
least within the area of competition. Now, even if they mixed together again, they could not
interbreed because their mating rituals, sperm & egg cells
A TYPICAL COMPETITION GRAPH and DNA have changed to become incompatible. They are
forever separate. This is how we think all species have
Population Size (ABUNDANCE)
ER arisen from common ancestors over millions of years.

Species using resource. N
Population stable IN
W
Convergent Evolution (“Converge”=come together)
If totally different organisms live in the same kind of
environment and lead similar lifestyles they will be subject to
New competitor
the same sorts of “Selection Pressures” and evolve many of
LO
enters ecosystem SE the same features, so they may come to resemble each other
R
even though not closely related at all.
TIME (years) A classic example is the shark (a fish), dolphin (a mammal)

and the extinct ichthyosaurus (a reptile)
However, this is not the only possible outcome. If among
Photo by Natasha Whiteley
the natural variations within either species there are some

individuals who are perhaps less fussy about their food or
nesting sites (what ever the resource might be) and who can
survive on slightly different foods, or utilize different
nesting sites, then they will have an advantage to survive.
Survivors breed and pass on their characteristics. Over

generations the species evolves to be using a slightly All 3 animals are (were)
fast-swimming fish-
different resource. Therefore, it is no longer in competition
hunters of the ocean. All evolved the same streamlined
and both species can survive... a “Win-Win” situation. shape, powerful tail, dorsal fin and sharp teeth to suit this
lifestyle. The resemblance is superficial, and they are very
This outcome is called “Resource Partitioning” and is different in the details of body structure and metabolism.
commonly observed in nature. For example, the many For example, the shark is a gill-breathing ectotherm, while
grazing species of the African plains avoid competition the dolphin is a lung-breathing endotherm.
because each has slightly different plant preferences among There are many other examples of such convergence.
the various grasses, shrubs, etc.
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Worksheet 1 Part B The Theory of Evolution

Fill in the blanks. Check your answers at the back.
The Theory of Evolution was developed independently by
Part A Evidence of Evolution a)........................................... and .................................................
It can be summarized in 5 main points:
The most important, direct evidence for Evolution comes
1. All organisms produce b)........................................................
from a)....................................................., the study of 2. Every species shows c)...........................................................
b)..................................... This shows that life on Earth has 3. d)”............................................................” occurs to choose
changed from being c)........................... complex to become the survivors.
d).............................. complex, and showing e)..................... 4. Those organisms e).................................................... to the
variety to f)............................... variety and becoming more environment survive and f)........................................................
and more like g).......................................................... over a This is called g)”.........................................................................”
period of h)......................................... of years. Initially 5. Over generations, the species h)............................................
scientists could only place fossils in i)..................................... because the selected characteristics are being passed on in
time order by j).......................................... the fossils from one greater proportions.
place to another. The technique of
“Natural Selection” refers to the way that the forces of
k)........................................ dating has allowed absolute ages
nature choose who survives. These “forces of nature”
to be measured. could include disease, i)............................... and
......................................., and any factors in the environment.
An important type of fossil is a l)............................................ “Survival of the Fittest” refers to how the organisms
form, which is an “in-between” organism. A good example j).............................................................. to the environment
is m)........................................................ which lived about 100 will survive and k)..........................................................
MYA. It appears to be a n)...................................................... Variation within a population is vital so that if the
in the process of evolving into a o)....................................... environment changes, there are more likely to be some
individuals who will l).................................................. and
Biogeography is the study of p)............................. m)..................................................
............................... It gives indirect evidence for evolution
Changes to actual populations have been observed.
because the distribution of species can be best explained by
The n)............................. Moth of England was observed to
evolution. undergo a population change over generations due to
o)..................................... pollution changing the background
Comparative Embryology reveals that vertebrate embryos colours of its environment. This led to a change in the ratio
are all q)......................................................... to each other, of p).....................................................................................
even though each animal grows up to be Another example was due to a chemical change in the
r).................................................... This is explained by environment. When the insecticide q)....................... was
evolution as being due to these animals all evolving from a widely used it acted as a r)”..............................................
s).............................................................................. agent”, causing mant pest species to evolve to become
s).................................................................
Similarly, the study of Comparative Anatomy shows much
Competition for resources can result in one species losing
the same. For example, the forelimbs of vertebrates have
and becoming t).................................. However, another
the same t).................................................................... even possible outcome is called “Resource
though each animal uses the limb u).............................................” which results if one species
u)......................................................................................... evolves to avoid the competition by
This “5-digit” limb structure is called v)...................................................................................................
v)................................................................
“Divergent Evolution” is when one species
Biochemistry reveals that all organisms have the same w)....................................... into ...........................................
genetic code in their w)......................... and use the same This happens when different populations of a species
x).................................... to control their metabolic processes. become x).............................................. from each other. Each
This is evidence of y)............................................. population is subject to different y)..........................................
pressure due to the differing environments.
........................................................
“z).....................................Evolution” is when quite unrelated
Selective Breeding of domesticated plants and animals species evolve to aa)........................................... each other.
shows that z)................................................................................ This can happen because they live in ab)..................................
environments and so natural selection favours evolution of
similar ac)............................................. A good example is the
WHEN COMPLETED, shark and ad)............................................ which have many
WORKSHEETS BECOME SECTION SUMMARIES common ae)................................................ even though they
are not af)................................................. to each other.
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2. MENDELIAN GENETICS
In Charles Darwin’s lifetime there were 2 parts of his Next, he self-pollinated the plants of the F1.
Theory of Evolution that no-one could explain. TALL F1 plant SELF
Where Does Variation in a Species Come From?
(That will be explained later in this topic)
How Are Characteristics Passed On to Offspring?
... that will be explained right now! X
The Experiments of Gregor Mendel
Mendel was the Abbot of a monastery in what today is the
Czech Republic. He was trained as a teacher and was not a
professional scientist, but became interested in discovering
how inheritance works. The monks grew most of their own
food, so Mendel worked his investigations into the day-to-
day vegetable gardening by choosing to experiment with
garden peas.
F2 (2nd Generation) Offspring
First he bred his pea plants over several generations to occurred in a ratio of 3:1
select plants that were “pure breeding” for certain
contrasting characteristics, such as... Mendel didn’t do this with one or two plants, but with
many. His 2nd generation groups of offspring totalled
TALL v DWARF PURPLE v WHITE thousands of plants, not just a few.
FLOWER FLOWER
He got the same result with flower colours, seed shapes,
seed pod colours, and so on. In every case the first
generation always took after one parent completely, and the
second generation always appeared (in their thousands) in a
ratio of very close to 3:1.
Each type was “pure breeding”, meaning that if they were
self-pollinated they always produced offspring of exactly Mendel’s Explanation of the Results
the same type as themselves. (Using Modern Terminology)
• Each characteristic is produced by “factors” (we now call
Then he cross-pollinated 2 contrasting types to obtain them genes) carried by the plants. For example, there is a
“hybrid” (cross-breed) offspring. The result was that all the gene for tallness of stem, and a corresponding gene for
offspring showed the characteristic of one parent and none dwarf stem. There is a gene for purple flower and another
took after the other. For example: for white flowers, and so on for other characteristics.
TALL DWARF
The genes which control “opposite” forms of the same
X
characteristic are called “alleles”, or “allelic genes”.
So the genes for “tall” and “dwarf ” are alleles.
“X” is short-hand
Genes for “purple flower” and “white flower” are alleles.
for “crossed with”
• One of the alleles is “Dominant” over the other, which
is said to be “Recessive”. We usually use letters of the
alphabet to designate this:
Tall ( T ) is dominant to Dwarf ( t )
Purple flower ( P ) is dominant to white ( p )
• Each plant carries 2 genes for a characteristic. The 2 genes

may be the same as each other (“homozygous”) or
F1 (1st Generation) Offspring were ALL TALL different to each other (“heterozygous”).
Mendel explained this result by suggesting that the
Example: for the height characteristic, the possibilities are:
“factor” (GENE) which caused “Tallness” was
TT = homozygous, Tall plant
DOMINANT to the gene for “Dwarfism”.
Tt = heterozygous, Tall plant, because T dominant
Dwarf is RECESSIVE to Tall.
tt = homozygous, Dwarf plant (cont...)
HSC Biology Topic 2
TM
Mendel’s Explanation of the Results (...continued)
• Although each plant carries 2 genes for each
Reasons for Mendel’s Success
Gregor Mendel had discovered the basic mechanism of
characteristic, only one gene is passed into the gametes
inheritance. Scientists before him had studied
(pollen or ovules). Each parent passes on one gene, so the
inheritance, but had failed to discover the simple
offspring gets one from each parent and gets back to
patterns. Why was he successful?
having 2 genes for the characteristic.
• He chose simple, easily-identified characteristics which
Which one is passed on is completely at random.
occurred in just 2 forms...e.g., height; either tall or dwarf
Now, we re-examine Mendel’s experiment using symbols to
• He began with “pure-breeding” parent plants
trace the genes through the generations:
Mendel’s “Pure-Breeding” These are “Phenotypes”... • He bred large numbers of plants so that the numbers
parent plants were descriptions of the outward of offspring were statistically significant.
homozygous for each appearance
trait... 2 genes the same (If he’d produced just a few offspring then random
chance could have produced confusing results)
PARENT Tall x Dwarf
PLANTS
TT tt Reasons for Mendel’s Work Being Ignored
Only 1 Mendel published his results in 1865 in a German natural
These are gene is science journal and received instant oblivion. Why?
“Genotypes” passed
the actual into
genes gametes • He was not a recognised scientist, and had no contact
present T t
GAMETES with the “scientific establishment” of his time. His
work was read by only a small circle of people, who
failed to see its significance.
Fertilization
All the F1
offspring • His work was written only in German, while all the
ALL THE F1
receive this “important” science of that time was appearing in
combination OFFSPRING ARE
Tt TALL, BUT English or French, in well-known journals in England,
of genes
Tall HETEROZYGOUS France & USA.
It was not until well after Mendel’s death that in 1900 his
Next, the F1 plants were self-
Self-pollinating pollinated to produce the F2 work was “discovered” by scientists, and his great
the F1 plants is contribution was recognised. He is now known as the
the same as
crossing with
Tall x Tall “Father of Genetics”.
the same Tt Tt
genotype
The Punnett Square
The “working out” of the cross as shown at the left can be
a bit messy and confusing. A scientist called Punnett
Possible invented a simpler method which you must learn to use.
T t GAMETES T t
The “Punnett Square” working below shows the same

possible cross... the formation of the F2 plants in Mendel’s
fertilizations experiment.
Genotypes of
TT Tt Tt tt parents Tt x Tt
TALL TALL TALL DWARF
List of all
possible
T&t gametes T&t
Ratio of Phenotypes 3 Tall : 1 Dwarf gametes
T t
This explains why Mendel observed a ratio of about 3:1 in
Punnett Square
the plants of his F2 offspring. table shows all T TT Tt
the possible
offspring
Note that his experimental ratios were approximately 3:1, genotypes t Tt tt
but not exactly 3:1. This is because the actual combinations
of gametes at fertilization occur at random. He bred large The phenotypes Phenotypes of Offspring
numbers of plants and so his actual ratio was very close to of offspring are Tall : Dwarf
written as a ratio 3:1
theoretical. or percentage 75% : 25%
HSC Biology Topic 2

TM
Monohybrid Crosses Sample Problem 2
“mono” = 1 (referring to just one characteristic) In drosophila fruit flies, the allele for long wings (L) is
“hybrid” = cross-breed, when 2 “types” are crossed dominant to the allele for short wings ( l ). A pure breeding
long winged fly was crossed with a short winged fly. Their
It has been found that there are many characteristics, in all offspring were allowed to mate among themselves to
sexually-reproducing organisms, which are inherited just produce a second generation. There were 240 flies in the
the way Mendel discovered... F2. Predict how many of each phenotype would occur.
these are cases of “Mendelian Genetics” and you need to
be able to predict the outcomes of simple crosses. Solution
To work out the F1, a punnett square is not really needed.
Study the following examples to help you work through the
next worksheet. Parents genotypes LL x ll
Sample Problem 1 Gametes possible L only and l only

In mice, black coat (B) is dominant to albino (b).
Predict the outcome of mating a heterozygous black All the F1 flies must be Genotype: Ll
mouse with an albino. Phenotype: 100% Long winged
Solution Then, for the F2:

Ll x Ll
Parents are Bb x bb
L&l gametes L&l
B&b gametes b&b
L l
b b
L LL Ll
B Bb Bb
l Ll ll
b bb bb
Phenotypes of Offspring
Long Wing : Short Wing
Phenotypes of Offspring 3:1
Black : Albino 75% : 25%
1:1
50% : 50%
If the F2 comprises 240 flies, we should expect close to:
You will soon come to realize that 180 long wing flies and 60 short wing flies
only 3 outcomes are possible:
100% : zero (However, this is a statistical prediction only, and we should
50% : 50% not be surprised if the actual numbers were (say) 190 to 50.)
75% : 25%
NOW TRY THE PROBLEMS IN WORKSHEET 2
HSC Biology Topic 2

TM
Pedigrees (Family Trees) Interpretation
Another skill you must learn is how to read, interpret and In Generation I, individuals 1&2 were both tongue-rollers.
construct a pedigree diagram. They had 4 children, a daughter and 3 sons. Most of the
kids can roll their tongues, but son “4” cannot.
This is a diagram showing the inheritance of a trait through
a family. It is used particularly with human families to trace This means the inability to tongue roll must be recessive.
some characteristic over a number of generations. (Whenever a child shows a trait different to both parents,
the child’s phenotype must be recessive.)
Symbols Used in Pedigree Diagrams
Therefore, tongue-rolling ability must be dominant.
Male Male
with trait being studied without trait We can now assign symbols... tongue-rolling (R)
non rolling ( r )
Female with trait Female ...and work out most people’s genotypes:
without trait 1 2 3 4 5 6 7 8 9
Rr Rr ? rr ? Rr rr rr rr
Horizontal connections are “marriage lines”.
Vertical lines lead to children of that couple. (Individuals “3” & “5” might be either “RR” or “Rr”.
Each generation is numbered by Roman Numerals. ... more information needed to be sure which)
Individuals may be numbered for identification
Questions & Answers
Example How can we be sure that parents 1 & 2 are both “Rr”
In humans, some people can “roll their tongue” while (heterozygous)?
others cannot. This is passed on by simple Mendelian A: Since they produced son “4” who is a non-roller (and
Inheritance. Here is a pedigree of a family showing how has to be genotype “rr”) both 1 and 2 must be carrying the
this trait was passed on. recessive gene. Therefore, both must be “Rr”.
Generations
1 2 Can we be sure that son “6” is “Rr” and NOT “RR”?
I
A: He married a non-roller (rr) and both the children in
generation III are non-rollers. Therefore, son “6” must
have passed on a recessive gene to his children. He must be
heterozygous (Rr) to do this.
II
3 4 5 6 7 If “6” and “7” had another child, could it be a tongue
roller? What’s the chance?
A: Yes. The cross is Rr x rr.
III If you work out a punnett sqare for this, you will see that
8 9 the expected outcome is 50% rollers and 50% non-rollers.
The chance for the next child is 50% either way, and is
NOT affected by the fact they have already had 2 non-
roller children.
TRY THE PROBLEMS IN WORKSHEET 2

Uses of Pedigree Diagrams
Pedigree diagrams are used to study human
inheritance because it is not moral or ethical to carry
out breeding experiments on people to discover
which traits are dominant/recessive.
Some human disorders are inherited. Examples are

haemophilia (in which blood will not clot properly)
and colour-blindness (inability to distinguish certain
colours). Health professionals can study affected
families by compiling a pedigree chart, then advise
Sarah can... people about the risks to future children. This
allows people to make informed decisions about
Nathan can’t family planning.
HSC Biology Topic 2

Worksheet 2 (continued...)
When Complete, Use as a Section Summary c) Use a punnett square to predict the outcome of each of
Part A Fill in the blanks the following crosses. In each case, state the expected
Gregor a)............................... was a monk who experimented phenotypes of the offspring as a percentage.
i) Gg x Gg
with b)..................... plants and discovered the basics of how
ii) Gg x GG
characteristics are c)................................................ He started iii) gg x GG
with plants that were d)......................-breeding for 2 iv) Gg x gg
opposing traits, and crossed them. For example, he crossed
pure-breeding tall-stem plants with e)......................................, 2. In rats, black fur (B) is dominant to brown (b).
f)..........................-stem plants. In the first generation, or a) If a pure-breeding black rat mated with a pure-breeding
g)............., the offspring plants were 100% brown rat, what would be the
h)..................................... When these were allowed to i) genotypes of the offspring?
i).........................-pollinate, the F2 (which means j)................... ii) phenotypes of the offspring?
.............................................) showed a ratio of b) One of the offspring from the cross described in part (a)
k)....................... of tall to dwarf plants. was crossed with a brown rat.
i) Use a punnett square to predict the outcome.
ii) In fact, they produced 7 babies; 5 black & 2 brown.
He explained these results as follows: Is this result surprising? Explain your answer.
Each trait is determined by “factors” we now call
l)......................... The genes which control the “opposing” 3. In humans, some people have little fingers that are
traits of a characteristic are called m)................................, or straight, while others have curved little fingers. This
n).................................. genes. For each characteristic, an characteristic is inherited by simple Mendelian inheritance.
organism always has o)........... genes, which may be Study the following pedigree diagram, then answer the
p)................................. (homozygous), or may be different questions which follow..
(called q).........................................) In sexual reproduction, Shaded shapes represent curved little fingers.
the r).................................. (eg sperm/eggs) contain only 1 of 1 2 3 4
the genes for each trait. When the gametes unite at
s).........................................., one gene from each I
t).............................. are brought together in each offspring.
One of the alleles is dominant to the other, which is called

u)........................................ The v)...................................... gene II
will always show its effect, but the recessive one can only be 5 6 7 8 9
expressed in the case where it is w)......................-zygous.
The appearance of an organism due to its genes is called III
the x)..........................................., while the “genotype” is the
10 11
y).................................................................................................
Mendel was successful, where others had failed, because: a) Is the curved little fingers trait dominant or recessive?
1. he chose z)...................................................... characteristics Explain your answer referring to specific individuals above.
2. he began with aa)............................................ parent plants
3. he bred ab)................... numbers of plants so the numbers b) Assign the letters “S” and “s” appropriately to the 2
of offspring would be ac)........................................ significant. alleles operating in this pedigree.
However, Mendel’s achievements were not recognised c) Extra information: individuals 2 & 4 are homozygous.
because he was not ad)............................................................ Using the symbols chosen, work out the genotypes of
and because his findings were published in an obscure everyone in the pedigree, as far as is possible.
journal written in ae)........................................... and did not
come to the attention of the scientific community until d) Couple 1 & 2 had children who all have straight fingers.
after his death. Was there any chance they might have had a child with
curved little fingers? Explain your answer.
Part B Mendelian Genetics Problems
e) Person 5 later married a girl with curved little fingers. Use
1. In pea plants, green seed pods (G) is a dominant trait a punnett square to predict the finger shapes of their
over yellow seed pods (g) children.
a) What is the phenotype of a plant, if the genotype is:
i) GG? ii) gg? iii) Gg? f) In fact, person 5 and his wife had 2 beautiful little girls
both with straight fingers. Is this possible? Is your
b) What is the genotype of a plant with seed pods that are: prediction wrong?
i) green, and it is pure-breeding?
ii) heterozygous? CHECK YOUR ANSWERS AT THE BACK
iii) yellow?
TM
3. CHROMOSOMES & DNA STRUCTURE
Chromosomes Mitosis & Meiosis

Mendel’s discoveries were “re-discovered” by mainstream You should already be familiar with the difference between
science in 1900. At about the same time, new techniques in these processes of cell division in terms of their outcomes.
using stains to highlight specific parts of the cell had led to
the discovery of chromosomes. The combination of Now look more carefully at what happens to the
Mendelian Genetics + Chromosomes was the next big chromosomes during each process.
breakthrough. Things to know...
• Chromosomes are thread-like structures in the ORIGINAL BODY

DIPLOID”
This cell is “D
CELL (abbrev. “22n”)
nucleus of cells. They only become visible (to a light
with 4 (chromosomes in pairs)
microscope) during cell division. chromosomes In this case,
(2 homologous 2n = 4
• Chromosomes have genes along their length. pairs)
There may be 1000’s of genes on a chromosome.
• Chromosomes occur in pairs. Mitosis Meiosis

Chromosomes in a pair are called “homologous”.
Homologous chromosomes correspond with each other by In BOTH
carrying allelic genes in corresponding locations. processes, the
chromosomes
are first
Homologous pair duplicated, to
Study this diagram to get the
a form double
idea. chromosomes
A
b
Consider 3 sets of genes. B
Genotype is AaBbCc.
(heterozygous for each Chromosomes
line up in their
characteristic) Chromosomes
homologous
line up in a
pairs
C c single line
This is how the genes could be
located on some
chromosomes.
Another Homologous pair
Notice that homologous pairs Homologous

correspond with each other, but are NOT identical. Chromatids
pairs have
separated, and
separate
cell divides in 2.
• Before cell division, each chromosome is duplicated.
Now cells divide
again, and
Study the diagram. separate the
chromatids
Homologous pair of
The original and its exact copy Double chromosomes
remain attached to each other,
as a double chromosome.
A A a a
Haploid” means half the
The chromosomes are

chromosome number.
Cell Divides
Each strand of a double in 2
not in pairs.
chromosome is called a B B b b
“Chromatid”.
C C c c
The chromatids in a double
chromosome are identical...
“H
(look at the genes in the

diagram) but the homologous Indentical Chromatids in DIPLOID HAPLOID
each chromosome 2n = 4 n=2
partners are not identical... 2 Daughter 4 Gamete
merely corresponding. cells cells
Identical to each other and to NOT identical to each other,
parent cell nor to parent cell
HSC Biology Topic 2

TM
Chromosomes & Mendel’s Genes The Structure of DNA
In 1902, two scientists independently noticed a similarity Like many biological molecules, DNA is a polymer, made
between the way that chromosomes behaved in meiosis, of many smaller units which are joined in long chains. The
compared to how Mendel’s genes were inherited. basic unit of DNA is a “Nucleotide”. (named for nucleus)
Walter Sutton (USA) and Theodor Boveri (Germany) had A NUCLEOTIDE

both been studying meiosis using new staining techniques
which made chromosomes more visible. Both were aware
Phosphate
of Mendel’s discoveries, which had been “re-discovered” group
just 2 years before. “Base” molecule
Sugar There are 4
Chromosomes Mendel’s (Deoxyribose) different bases, so
During Meiosis Genes 4 nucleotides are in
DNA
Begin in homologous Two genes for each
pairs characteristic
The 4 different bases are usually known just by the first
Pairs separate The 2 genes separate letter of each name:
in meiosis in gamete formation
A Adenine
Gametes have only 1 Gametes have only 1 C Cytosine
of each chromosome of each gene pair G Guanine
pair (haploid) T Thymine
At fertilization, each At fertilization, each
DNA molecules are composed of 2 strands of nucleotides
gamete supplies one gamete supplies one
chromosome, so the gene, so the offspring (one running “upside-down” compared to the other) which
zygote gets back to gets back to having are joined by the bonding between “base” molecules.
having paired chromo- two genes per
somes (Diploid) characteristic Two Strands of Nucleotide Chains
The obvious similaries made it clear that the genes must

be located on the chromosomes in the cell nucleus.
A T
Chromosomes Contain DNA Bases A-T
T bonded
Chemical analysis reveals that chromosomes are made of

Deoxyribonucleic Acid (DNA for short) wrapped in
proteins. C G
Bases C-G
G bonded
Simulated
Photograph of
Human
Chromosomes G C
T A
Part of a DNA
molecule
Notice that the only
base combinations are
A-TT and C-GG
One Nucleotide
A section of DNA carries Sugars & phosphates
a code to specify one are the side rails
feature of the organism;
= a gene Finally, the entire
molecule is
We now know that DNA is a double helix-shaped molecule corkscrewed into a
which carries a chemical code... it is a gene. “double helix”, rather
like a spiral staircase
Each chromosome contains 1000’s of DNA molecules or ladder. Bases are the
(wrapped in protein) each one specifying one of the “steps” of a
ladder
organism’s many hereditary traits.
HSC Biology Topic 2

TM
Non-Mendelian Inheritance Sex-Linkage Inheritance
Gregor Mendel discovered the basics of Genetics, but it What Thomas Morgan noticed in 1910 was that the eye
was found early in the 20th century that genes don’t always colours he was studying in Drosophila fruit flies were not
work in that simple “Mendelian” fashion. being inherited equally by males and females... the traits
were linked to the sex of the flies... “sex-linkage”.
Thomas Morgan began experimenting with Drosophila fruit
flies and quickly found they were ideal for genetics The common and normal eye colour in the flies is red.
experiments. They bred quickly in large numbers, were easy Morgan discovered a male fly with white eyes.
to feed and keep in small bottles, and showed many He set out to do a “Mendel-type” breeding experiment:
different genetic traits that could be studied.
White-eyed Red-eyed
Male Female
In 1910, in an experiment involving flies with different eye
colours, Morgan realized that the way this characteristic PARENTS X
was being inherited depended on the sex of the fly... males
and females were inheriting eye colour differently.
F1 generation
What Determines Sex?
In humans, and in many other species, sex is determined by
a special pair of chromosomes... the “sex chromosomes”. All have red eyes.
Morgan concluded (correctly) F1 flies were
In a normal human body cell there are 46 chromosomes Red is DOMINANT, allowed to mate
arranged in 23 homologous pairs. Of these, 22 pairs are White RECESSIVE among
themselves
called “autosomes” and are the same size and shape in
males as in females. F2
generation
The 23rd pair are the “sex chromosomes”:
Females have a matching pair of Females 100% red-eyed. Males 50%: 50%
chromosomesthat are known as What’s going on?
“X” chromosomes. Morgan produced hundreds of flies in the experiment so,
A female is described as “XX” like Mendel, his results were statistically significant.
Males have one “X” chromosome, The Explanation:

and one smaller “y” chromosome. The genes for eye colour is carried on the X chromosome.
Males are described as being “Xy” The dominant (Red) gene can be designated as “XR ”
The recessive (White) gene is “Xr ”
How these chromosomes are passed on to children can be The male “y” chromosome does NOT carry one of these
shown using the Punnett Square diagram to track, not alleles at all.
genes, but the sex chromosomes:
The possible female (XX) genotypes & phenotypes are:
Father Mother
Notice that XRXR Red eye female (homozygous)
Xy x XX
females can only XRXr Red eye female (heterozygous)
pass on an X XrXr White eye female
X&y gametes X&X
chromosome in
their eggs. The possible male (Xy) genotypes & phenotypes are:
X X
Male’s sperm XRy Red eye male
X XX XX Girls
cells can either Xry White eye male
carry an X or a y
y Xy Xy Boys
Note that females get 2 genes, but males only get one
Which type of because their “y” chromosome lacks this allele totally. A
sperm fertilizes Girls : Boys
male cannot be heterozygous for this trait and cannot have
the egg 1:1 a “hidden” recessive gene.
50% : 50%
determines the
sex of the baby. WHEN DOING PUNNETT SQUARES WITH SEX-
LINKAGE, YOU MUST TRACK THE “X” AND “y”
CHROMOSOMES... see next page.
HSC Biology Topic 2

TM
Morgans’s Sex-Linkage Experiment (continued...) Inheritance by Co-Dominance
Here is the experiment explained by Punnett Square. Another example of “Non-Mendelian Inheritance” is
known as “Co-Dominance”. This is a fairly common
situation in which the 2 alleles for a characteristic do not
Parents show a Dominant-Recessive pattern, but when both genes
are present (heterzygous) they are both expressed, and may
Xry x XRXR
result in an “in-between” phenotype.
Xr & y gametes XR & XR
Example: In Shorthorn cattle, there is gene (R) that causes
the hair of the animal’s coat to be “red” (actually a rusty-
XR XR brown colour). To be red, the animal must be homozygous
The F1 are all for this gene.
red-e
eyed. Xr XRXr XRXr
Note that
females are all Genotype RR
y XRy XRy
heterozygous.
Phenotypes of Offspring (both sexes)

Red:White The other allelic gene (W) causes the coat to be white, if the
1:0 animal is homozygous.
100% : 0
Genotype WW
Then, the F1 generation were allowed to breed among
themselves. Notice that the F1 females are all heterozygous
red eyed ( XRXr ) and the males are all red eyed ( XRy ). If an animal is heterozygous, with both alleles present,
neither gene dominates the other. Both genes are
expressed, producing mottled patterns of red and white
hair which is called “roan”.
XRy x XRXr Genotype RW
XR & y gametes XR & Xr

Note that it is best to use 2 different CAPITAL letters as
The F2 are
red : white XR Xr symbols in this case, since neither gene is recessive.
3:1
just like XR XRXR XRXr Here is what happens in a “Mendel-type” cross:
Mendel’s
results, but y XRy Xry PARENTS
the sexes are X
different. RR WW
FEMALES MALES
Red : White Red : White
gametes: R only W only
100% : 0 50% : 50%
F1
100% Roan
There are a number of genes in humans that are sex-linked. RW RW RW RW
The best-known are 2 genetic disorders: gametes: R or W
F1 breed among
• Red-Green Colour Blindness, is where a person cannot themselves
distinguish between certain colours.

• Haemophilia, is a condition in which the blood does not
clot properly, putting the person at constant risk of F2
internal bleeding. It was always a fatal condition, but in RW RW
RR WW
modern times people with haemophilia are treated with
“clotting factors” from donated blood. Phenotypes: RED : ROAN : WHITE
1 : 2 : 1
Both conditions are sex-linked, inherited as recessive genes 25% : 50% : 25%
on the “X” chromosome. They occur much more often in Try to verify for yourself the F2 result by using a
males than females. Punnett Square.
TRY THE PROBLEMS IN WORKSHEET 3 TRY THE PROBLEMS IN WORKSHEET 3
HSC Biology Topic 2

TM
The Effect of Environment Variation Caused by Sexual Reproduction

It’s not just an organism’s genes that produce its The simple fact that sexual reproduction involves TWO
phenotype; the environment has an effect as well. parents, creates a lot of variation. The offspring receives
genes from 2 different individuals, thereby getting a new
For example, consider some of Mendel’s pea plants with “mix” of traits.
different genes for stem height.
IN GOOD SOIL
Variation Caused by Meiosis
Genotype TT The process of meiosis to produce the sperm and egg cells
Genotype tt increases variation, even before fertilization occurs.
Phenotype TALL
Phenotype Study the diagram of meiosis on page 15.
DWARF
Remember that homologous chromosomes are NOT
Now, imagine planting them (as baby seedlings) in very identical.
poor soil, so that normal growth was not possible.
IN POOR SOIL Each pair of homologous chromosomes line up and
Genotype TT separate at random, and independently of all other pairs, so
Genotype tt the number of different possible gametes is very large. In
Phenotype DWARF humans, with 23 pairs of chromosomes, it is possible for
Phenotype meiosis to produce about 8 million different combinations
DWARF
of chromosomes in the gametes of each person!
The point is that the genes may control what the organism
COULD grow up to be, but the environment may influence But wait! ...there’s more:
this, possibly altering the final appearance (phenotype). Crossing-Over
During meiosis homologous chromosomes also swap
In Hydrangea plants, if cuttings are taken from a single pieces of chromatid with each other, further mixing up the
individual (the cuttings would be genetically identical) and possible gene combinations:
grown in different soils, the flowers on each cutting can GAMETE FORMATION WITHOUT CROSSING-O
OVER
be different colours. If the soil is slightly acidic the A A a a Possible gene
flowers will be blue, but in slightly basic soil they’ll be combinations
MEIOSIS in gametes
pink. b b
B B AB or ab
Identical twins have inherited exactly the same genes. In the
Remember, each gamete gets just one of these 4 chromatids
USA about 40 years ago, a famous study was done on
identical twins who had been adopted into separate families WITH CROSSING-O
OVER
and raised in different environments. The study found quite a A
a
Possible gene
large differences between the twins in intelligence, A combinations
MEIOSIS in gametes
personality, and even appearance. Presumably these
differences were due to different foods, education, etc. B B b b AB Ab
aB ab
Genetics, Sex and Evolution
During his lifetime, Charles Darwin freely admitted that These chromosomes have exchanged
pieces of chromatid with each other.
there were 2 big gaps in his controversial Theory of This has mixed up the combinations of
Evolution... genes “A”, “a”, “B” and “b”.
• How were characteristics inherited?
When the “fittest” survive and breed, how do they pass In Summary...
on their “survival traits” to their offspring?
Variation is important for Survival of the Species,
The Science of Genetics can now explain that and for Natural Selection
to choose the survivors for Evolution.
• Where does variation come from?
Natural Selection needs differences between individuals Variation in sexually-reproducing species comes from:
to choose the survivors. Why is there variation anyway? • combining gametes from 2 different parents
• Independent Segregation of all the pairs of
homologous chromosomes during Meiosis
Part of the answer to that is in the process of
• Crossing-Over process during Meiosis
MEIOSIS
and sexual reproduction
In the next section, you will find out how NEW
variations appear in the first place.
HSC Biology Topic 2

Worksheet 3 Part A Fill in the blanks In 1902, two scientists t).....................................and..............................

noticed the similarities between how Mendel’s genes worked and
Chromosomes are thread-like structures in the a)............................
how u)..................................... behave during v)....................................
of a cell. They are only visible during b)...............................................
From this observation it was clear that w).........................................
Chromosomes come in pairs, referred to as c)....................................
....................................................................................................................
The members of a c)..................................... pair are not identical,
but correspond with each other because they carry
Chromosomes have been analysed chemically and found to
d)............................................... genes in corresponding locations.
contain x)................................................. and ............................ It is
Before a cell division, each chromosome is e).....................................
known that the DNA molecules contain a chemical code which is
to make a “double chromosome”. The 2 parts are called
a y)........................ Thus, each chromosome contains many genes,
f)............................................. and they are g)........................................
each one encoded by a molecule of z)....................
to each other.
The DNA molecule is a aa).......................... of repeating units

In Mitosis, the chromosomes line up h)...............................................
called ab).................................... Each one is made of 3 smaller
and the i)............................................... separate, so that the daughter
parts; ac)........................... and ............................... and .........................
cells are j)............................................... to each other, and to the
There are 4 different “bases”, known by the intial letters of their
k).................................... cell.
names; ad)......, .........., .......... and .......... (letters) The DNA
molecule is a double- ae)..................... shape, made of af)...............
In Meiosis, the chromosomes line up l)......................................... and
(number) strands resembling a twisted ladder. The “rungs” of the
the first division separates the m)............................................... pairs.
ladder are formed by 2 “bases” bonding with each other. The
Then the cells divide again to form n)................ (number) gametes,
bases can only bond in combinations ag)...................... and
each with o)....................... the original number of chromosomes.
...............
Body cells with pairs of chromosomes are called p)...........................
while gametes are said to be q)........................................... Human
Sexual reproduction produces variations in a population because:
body cells have a total of r).................... (number) chromosomes,
• Offspring receive ah)...........................................................................
while egg or sperm cells have s)............... (number)
• ai).................................................... of homol.chromos. in meiosis
• the process of aj)....................................................... in meiosis.
WHEN COMPLETED,
WORKSHEETS BECOME SECTION SUMMARIES
Part B Problems in Sex-Linkage & Co-Dominance

3. Refer to the information about Co-Dominance, page 18.
Check your answers at the back.
Use Punnett Squares to predict the phenotypes of calves born if:
1. Refer to Morgan’s experiment with fruit flies, pages 17-18.
a) a roan bull mated with a red cow.
a) Why are there 3 genotypes for female flies, but only 2 for males?
b) a white bull mated with a roan cow.
b) From which parent (mother or father) does a white-eye male fly
inherit his white eyes? Explain.
4. In a particular breed of chickens, the feather colour is
c) i) What is the genotype of a female, who is heterozygous?
controlled by 2 alleles “B” and “W”. Genotype BB produces black
ii) What is her phenotype?
feathers. Genotype WW produces white feathers. The
iii) Explain why this genotype is often referred to as a
heterozygous genotype BW results in black & white “speckled”
“carrier” female.
feathers.
d) Use a Punnett Square to predict the outcome of each cross:
Use a Punnett Square to predict the colours of chicks from:
(You must track the X & y chromosomes.
a) a speckled rooster and speckled hen.
Offspring phenotypes should describe the sexes separately)
b) a black hen and a white rooster.
i) Xry crossed with XRXr
c) a black rooster and a speckled hen.
ii) XRy crossed with XrXr
5. Some plants have flower colours controlled as follows:

2. In humans, a recessive gene (“Xn”) carried on the X
There are only 2 alleles involved, but there are 3 phenotypes
chromosome causes colour-blindness. The “normal vision” gene
possible... red flowers, white flowers and pink flowers.
can be symbolized by “XN”. Use these symbols to write the
a) Suggest how just 2 genes can result in 3 different colours.
genotype of:
b) Suggest suitable symbols for the alleles.
a) a homozygous normal-vision female.
c) Use these symbols to write the genotype for:
b) a normal-vision male.
i) red flower
c) a colour-blind male.
ii) pink flower
d) a colour-blind female.
iii) white flower
e) a “carrier female” (heterozygous)
d) Use a Punnett Square to predict the phenotypes resulting from
f) A man with normal vision married a woman who is colour
crossing a red-flowering plant with a white-flowering plant and
blind. Use a Punnett Square to predict the pattern of inheritance
breeding through to the F2 in a “Mendel-type” experiment.
in their children.
TM
4. MOLECULAR GENETICS & MUTATION
How DNA Structure Was Discovered DNA Replication

By the middle of the 20th century it was suspected that So how does the structure of the DNA molecule lend itself
DNA was probably the “genetic chemical” and it was to replication?
known that it contained sugar, phosphate and the 4 bases
A,C,G and T. What no-one could understand was, if DNA The key is the way the complementary bases bond together
was the genes, how could it: in the double stranded structure.
• Replicate (duplicate) itself for cell division? sugar-phosphate “side rail”

• Control the phenotype of an organism?
A G T C C A
Bases
It seemed likely that the key to this problem was to find out T C A G G T
the structure of the DNA molecule. The story of what
happened is a classic example of how Science and scientists The only combinations that will bond are
make progress using collaboration and communication. A-T
T and C-G
G
In 1953, English scientist Francis Crick had become an

expert at interpreting the shapes of molecules using the This means that if you have ONE STRAND of a DNA
new technique of “X-ray Diffraction”. molecule it is a “mirror-image” template for the other. If
you split a DNA molecule into 2 separate strands, each
Meanwhile, at another laboratory, Maurice Wilkins (New strand can be used to build a new, complementary strand.
Zealand) managed to prepare a pure crystal of DNA, and
Rosalind Franklin (England) was able to get an X-Ray That’s exactly what happens to all the DNA in each
Diffraction image of it, but neither understood how to chromosome, before a cell division occurs.
make any sense of the pattern it produced.
DNA
Then a young American, James Watson, who was interested REPLICATION GC Original, double-
in understanding the DNA mystery, visited the Wilkins- stranded DNA
TA
Franklin laboratory. With their collaboration, he took their Molecule is untwisted
and “unzipped” by CG
data to Crick for his expert interpretation. Between them, “Spare” nucleotides
enzymes
Watson and Crick made one of the most notable scientific CG
AT
Base-p
pairing C G G
A G T
T
C C G C
A
T G T A G
T
C
A A T C
A
A T T AT
G A
G C GC
Nucleotides T
C G match up with CG
complementary
Double-s
stranded G C base on original GC
strand.
Helix
A T AT
Enzymes When
T A connect them in T A completed,
breakthroughs in the history of Biology... they figured out place, forming each new DNA
the base-pairing, double-helix structure of DNA and C G a new strand CG molecule is
twisted back
realized immediately how this structure could lend itself to G C GC into a double-
helix shape
replication... an essential feature of a gene.
“old” strand
No one of these scientists could have made progress alone. “New” strand TWO IDENTICAL DNA
Each had certain data, or skills or expertise, but only by MOLECULES
bringing it all together was the great discovery possible.
This is how the DNA molecules,
Success came from different people communicating and
which are the genes on the chromosomes,
unselfishly sharing their knowledge and talents.
are replicated in preparation for cell division.
HSC Biology Topic 2
TM
How Can DNA Control a Phenotype? DNA and Protein Synthesis
To answer this question, you need to be reminded about The sequence of bases in the DNA molecule is a code.
the structure, and the role, of proteins. Each 3 bases are a “code word” (a “Codon”) which
specifies an amino acid to go into the polypeptide chain.
Protein Structure DNA Strand
has been covered briefly in previous topics. Here’s a quick
Bases T A C T G G C A T C A A
revision: Codon
PROTEINS are polymers of Amino Acids.

Amino Acid
molecules a “Polypeptide” chain may contain
1000’s of amino acids
Amino Acids forming a Polypeptide
ENZYME A Polypeptide is NOT a protein until it folds and If a polypeptide containing 1,000 amino acids is needed,
D shape.
twists into a final, 3-D
Sometimes, several polypeptides join together then a DNA molecule made up of 3,000 nucleotide bases,
to form the final protein molecule will be the gene for this polypeptide.
Protein
with precise Only one strand of the double-helix of DNA is the gene.
3-D shape The other “mirror-image” strand is present only to allow
the gene to be replicated for cell divisions.
How the DNA base sequence gets to make a functioning

protein which then produces a phenotype is explained by a
simple model on the next page.
The exact shape of the final protein depends on the
sequence of the amino acids in the polypeptide chain. The Changing Definitions of a “Gene”
There are about 20 different amino acids, and some of When studying Genetics at the organism level:
them are attracted to (or repelled from) each other, so how
a “gene” = the hereditary unit which determines one trait
the chain twists and folds upon itself depends on exactly in the organism’s phenotype.
which ones are located where.
However, at the molecular level a new definition is needed.
Protein Functions
Proteins have many functions within an organism: In the 1940’s, two American scientists, George Beadle and
Edward Tatum discovered the connection of genes to
• Enzymes are all protein molecules proteins. Studying a genetic defect in a common fungus,
they found that there were 3 different genes that could
• Structural Molecules, such as in muscle fibres, skin, hair produce the same defective phenotype.
and bone matrix are proteins. Normal Chemical Pathway in Fungi Cells
Enzyme 3
• Many “Special Molecules” are proteins, such as P
Enzyme 1
Q
Enzyme 2
R S
haemoglobin (the oxygen carrier in blood)
P,Q,R and S are cell chemicals. If any reaction is
chlorophyll (absorbs light for photosynthesis)
blocked, then “S” cannot be made, and the
antibodies (which help fight disease) organism has a chemical defect
... and many more.
Beadle and Tatum realized that each enzyme 1,2 & 3 must
In every case, it is the shape of the protein molecule which have a separate gene. The phenotype “S-defect” could be
is essential to its correct functioning... Enzymes can only produced by a defect to the gene for enzyme 1, or the gene
connect to their substrate if their shape is right.... for enzyme 2, or the gene for enzyme 3. So, the new
Haemoglobin can only pick up oxygen if the shape is definition for a gene became:
correct... and so on.
a “gene” = a unit of heredity that specifies one protein
Proteins carry out many vital functions
But now that we know about DNA, and that some proteins
Correct functioning depends on the exact require more than one polypeptide chain...
sequence of amino acids in the polypeptide chain
A “Gene” is
IT IS THE DNA WHICH CONTROLS THE a DNA molecule
AMINO ACID SEQUENCE which specifies one polypeptide
HSC Biology Topic 2

TM
How DNA Causes a Phenotype: Part 1. From DNA to Polypeptide

The next step is called
The initial step is called
TRANSLATION Amino Acids are carried
TRANSCRIPTION into position by t-RNA
Each gr (“Transfer RNA”)
ow
This occurs in the 3-b
base “codon” in molecules
nucleus g P
in m-RRNA by oly t-R
RNA’s
specifies ad pep Amino
DNA m-R
RNA di ti
one amino acid tio de Acids
in the n ch
of a
polypeptide chain Am in
in
o
Ac
id
m- s
fro RNA
m m
RNA is a polymer of the ove Ribosome enzymes
ou nu s connect the amino
nucleotides, similar to t to cle
ar us acids to form a
DNA, but ibo
• single strand only som polypeptide chain
e
• different sugar
• one different
nucleotide m-R
RNA
Ribosome
One strand of the DNA (the gene) moves along
acts as a “template” for the m-RNA
You should recall
production of a single-stranded that the Ribosomes are
“messenger RNA” (m-RNA) organelles responsible for
protein synthesis in cells
Perhaps it’s a Maybe it becomes a

then, molecule of
Part 2. From Polypeptide to Phenotype structural protein,
used to build Haemoglobin, used
muscle or skin to carry oxygen in
the blood
The polypeptide chain

twists and folds to Possibly it is combined
form a protein with other polypeptides
or special chemical a functional
groups to form...
PROTEIN
molecule
It could be a Hormone,
which controls some
It could be an aspect of Homeostasis
ENZYME, able to
Example: Eye Colour catalyse a chemical
reaction
The colour of your eyes is a Substrates
genetically determined phenotype.
The coloured pigment is made by
enzymes, which are proteins,
coded in your DNA Enzyme
STARTING Product;
CHEMICALS a Coloured
(Substrates) Pigment
Enzyme catalyses reaction(s)
to produce coloured pigment
in cells of the iris of the eye
The gene(s) for eye colour are present in every cell of your body, but are only expressed in your iris cells.
Similarly, the genes for liver functions are only expressed in your liver cells, and genes to make taste buds are
only expressed in your tongue. What controls which genes are expressed is still unknown in most cases.
HSC Biology Topic 2
TM
Mutation Changing the DNA Can Produce a new Gene
In all organisms, cells divide all the time. There’s mitosis to You will see at the bottom of this page that mutations can
make new cells for growth, and meiosis to make gametes have many possible effects, ranging from absolutely
for sexual reproduction. Whenever a cell is about to divide, nothing, to a new inheritable characteristic. How could a
the chromosomes are replicated and all the DNA they new characteristic happen?
contain makes an exact copy of itself.
Imagine an accidental change to just 1 base in a DNA strand.
But sometimes mistakes happen... Change will occur
here
Original DNA Strand
• Errors can occur in duplicating the DNA
Bases T A C T G G C A T C A A
• Chromosomes get broken, then incorrectly repaired and Codon
sometimes an entire chromosome just gets “lost”.
Any accidental change to the genetic material is a Mutation.
Causes of Mutation
Some mutations do not have any discernible cause... they Amino Acids forming a Polypeptide
are just accidents that happen. However, it is known that
certain factors can increase the likelihood of mutations. Changed base
These factors are called mutagens, and include: Altered DNA Strand
Bases T A C T G G A A T C A A
• Higher Temperatures. Mutation rates are higher in hotter Codon
climates than colder climates.
• Certain Chemicals, for example pesticide chemicals such
as the infamous “agent orange”.
• Radiation, including X-rays, nuclear radiation and
ultra-violet radiation from the Sun.
1 Amino Acid will be different in the
polypeptide
Evidence for Mutagenic Nature of Radiation
• Controlled experiments have demonstrated that genetic Just one amino acid being different may alter the way the
changes can be induced in living things (eg plant seeds, polypeptide folds into its 3-D shape. This could alter the
fungi, fruit flies etc) by exposing them to doses of X-rays, shape of an enzyme molecule, so that instead of producing
or nuclear radiations. (say) Blue-Eye Phenotype, it produces a new colour pigment.
Blue
• Medical records from Japan following the Atom Bomb Pigment Original
original Phenotype
attack on Hiroshima (1945) indicate a huge increase in Enzyme in iris (Blue eyes)
genetic mutations among the people in the years following.
Substrate
• Countries like Australia, with a sunny climate and outdoor Chemical
New
lifestyle, have high rates of skin cancer. These cancers are Colour
Mutated Mutant
believed to be due (at least in part) to the mutagenic Enzyme Pigment Phenotype
properties of UV light. (new colour)
Effects of Mutation
It depends on what sort of Gamete NOT
Mutation during Meiosis involved in
cell the mutation occurs in.
Affects a Gamete reproduction.
No effect.
Mutation during Mitosis
Affects a Body Cell Gamete involved in fertilization
Mutation might
Cell might
cause malfunction
not be able Offspring might get new inheritable gene.
in cell, which
Mutation to function New trait might be:
becomes cancerous.
might properly. • detrimental; less chance to survive.
have no Cell dies. • an improvement; helps survival.
Organism seriously
effect on No effect on • neither good nor bad, just different.
affected, but future
cell. multicellular The mutation becomes a new variation to be
generations are not.
organism. inherited by future generations
HSC Biology Topic 2

TM
Mutation and Evolution Punctuated Equilibrium
Mutations occur at random in the DNA molecules and Darwin always imagined that evolution was a very slow
chromosomes. Most are detrimental to the cell in which process, taking at least 100,000 generations over perhaps
they occur, but occasionally a mutation produces a new, millions of years, for a species to change significantly. The
inheritable trait in an offspring. fact that the fossils showed significant change from one
rock layer to the next was simply, in Darwin’s opinion, due
Usually, new mutant genes are recessive alleles. Being to the “patchiness” of the fossil record, giving us just a
recessive, they can be inherited through many generations glimpse here and there of the slow and steady changes
without ever being visible in the population. Only when 2 going on.
heterozygous individuals mate and bring together a pair of
recessive genes does the new phenotype actually appear. An alternative explanation was proposed in the 1970’s. This
idea, called “Punctuated Equilibrium” suggests that
The new phenotype might be quite a trivial difference... evolution does not occur in a slow and steady way, but in
• slightly bigger ears short, sharp bursts of rapid change, in between long
• slightly shorter toes periods of little or no change at all. It is suggested that a
• a new colour pigment in the fur species might change significantly within just a few
• a slightly longer intestine ... and so on. thousand years rather than millions.
However, it is such small differences that give the variation EVOLUTION by EVOLUTION by
to a population for Natural Selection to work on. GRADUALISM PUNCTUATED
EQUILIBRIUM
Sexual Reproduction and Meiosis
keep mixing the genes in new
STABLE AGAIN
combinations,
but the original source of variation is

MUTATION
SLOW, STEADY CHANGES OVER TIME
Finally, Darwin & Wallace’s Theory of Evolution is

complete...
1. All organisms produce more offspring than can survive.

...THEN A RAPID BURST
OF CHANGES
2. In every species there is variation.
New traits originate from genetic mutation.
NO CHANGE...
Traits are mixed in new combinations by meiosis and

sexual reproduction, producing greater variation.
3. Natural Selection chooses the survivors.
4. The “Fittest” individuals pass on their characteristics as

genes (DNA) inherited by the processes of Genetics.
5. Over generations, a species evolves. Evidence for Punctuated Equilibrium

• Some fossil sequences show the same species existing,
Australian animals have evolved apparently unchanged, for millions of years, then suddenly
to survive and thrive “disappearing” and being replaced by a different (but
in a harsh and unpredictable
environment obviously similar) species. Perhaps it rapidly evolved into
the “new” species?
Photo by Diana
• Studies on living populations (eg snails in grasslands)
show that if the environment changes suddenly (eg because
of humans clearing the land) the species can respond with
a very rapid genetic shift within 20 years or so. This does
not prove that a new species can evolve quickly, but lends
support to the idea of rapid change.
The debate continues...
HSC Biology Topic 2

Worksheet 4 Next, the m-RNA moves out of the ai)...................................

Fill in the blanks. Check your answers at the to one of the aj)............................................... These
back. organelles are the sites of protein
ak)......................................... Here the second stage, called
The discovery of the structure of DNA shows how good al)......................................................., occurs. According to the
a)............................................ and b)............................................. code of bases on the m-RNA, amino acids are placed one-
contribute to scientific progress. Maurice by-one in sequence to build the
c).................................... was able to prepare a crystal of pure am)........................................................... chain. Another form
DNA, and Rosalind d)............................................. was able to of RNA, called an)................................ carries each amino
get an X-ray Diffraction image of the crystal, but neither of acid into place. The enzymes of the ao)..................................
them could interpret it. James e)................................ then catalyse the reaction to join the amino acids to each
collaborated with them, and took their data to Francis other.
f)...................................... who had become an expert in this
new technology.. Between them, Watson & Crick figured To cause a phenotype to occur, the polypeptide chain must
out the double-helix shape and the g)..................-pairing then twist and fold to form a functioning
structure of DNA. ap).......................................... As an example, it could become
an enzyme, which aq)............................................ a chemical
The h).......................-stranded structure, and the reaction in the iris of the eye. The reaction might result in
complementary base-pairing allows DNA molecules to be the production of a coloured ar)..............................................
i)........................................ in preparation for a cell which produces the phenotype of eye colour.
j)..................................... First, the DNA strands
k)................................................ Then each strand can act as a Any accidental as)................................... to a gene or
l)................................................ for the making of a new chromosome is a at)............................................. Some do not
complementary strand.. Each base specifies what must go have any discernible cause, but there are certain factors,
on the new strand, because only bases m).......... & ................ called au)...................................... which increase the
and bases n).............. & ..................... can go together. Once likelihood of a mutation. Higher av)......................................
a new strand is built onto each “old” strand, the result is 2 is one, and certain aw).................................... are known to
o).................................... DNA molecules. be mutagens. Various forms of radiation are mutagenic,
including ax).................................. and ay).......................... and
Proteins are polymers of p)...................................................... az) ................................................
A chain of p).................................................. is called a
“q).......................................................... chain”. To become a Altering just one base on a ba)....................... molecule can
functioning protein, it must twist and fold into a precise create a new gene. One different base could cause one
r)............................................ Exactly how the chain twists bb).............................-acid to be different in the
and folds depends on the exact s).............................. of the bc)............................................................ chain. This in turn
amino acids. There are about t)................. (number) different could alter the bd)......................................... of a protein. If
amino acids and they may attract or u)................................... this protein is an be)........................................., then the way it
each other, causing the chain to twist and fold upon itself.. catalyses a reaction could change, resulting in a different
chemical product. For example, this could result in a
Some different types of proteins include different bf)....................................... in the iris cells of the
v)............................... which catalyse metabolic reactions, and eye, and so a new phenotype for eye colour.
w)................................ proteins in muscles, skin and hair cells.
In each case, it is the x)........................... of the protein which Mutations are significant for the Theory of
is vital to its correct functioning. This shape is due to the bg)................................ because they explain where
sequence of y)....................... acids, and these are specified by bh)............................... in a population comes from originally.
the base sequence of the z).....................................
It has usually been accepted that evolution occurs with a
In DNA each aa).............. (number) bases form a code word slow and steady accumulation of changes. In the 1970’s a
(called a ab)...................................) to specify one amino acid. new idea, called bi)....................................
The first step in the process is called .................................................... was put forward. This
ac)........................................... and involves the production of suggests that species bj)............................................... for long
a molecule of ad)............................ To do this, the “gene periods of time, and then undergo bk)..................................
strand” of the DNA is used as a ae).......................................... ..................................... of evolution.
to build the RNA from nucleotides. Compared to DNA,
the RNA is only af).............................-stranded, and has a
different ag)........................................... in the “backbone” of WHEN COMPLETED,
the molecule, and one different WORKSHEETS BECOME SECTION SUMMARIES
ah)..............................................

TM
5. REPRODUCTIVE TECHNOLOGIES & GENETIC DIVERSITY
Reproductive Technologies Cloning

Humans have developed a number of techniques for A “clone” is a group of organisms which are all genetically
controlling or enhancing the reproduction of crop plants, identical. The simplest form of cloning is asexual
domesticated animals, and even themselves. reproduction, which has been done artificially with plants
for thousands of years.
Artificial Pollination
This is the oldest and simplest reproductive technique. Every time a plant is grown from a cutting, or by grafting,
Gregor Mendel used this to control the reproduction of his a clone is being created. Farmers and gardeners have been
pea plants, and it had probably been used for centuries doing this for thousands of years.
before that.
More recently, the process of “Tissue Culture” has allowed
Very simply, it involves taking pollen from one (selected) plant cloning on a massive scale. This involves taking
plant and dusting it onto the flower of the other (selected) thousands of small pieces of tissue (each perhaps just a few
parent. This gives complete control over which plants cells) from a “parent” plant and culturing them in a nutrient
become the parents of the next generation. liquid in a test tube in the laboratory. Eventually they grow
large enough to be planted out into soil to grow to be
In modern agriculture, almost all of our cereals, fruits and “adult” plants. This allows a clone of many thousands to be
vegetables are now the result of artificial pollination. New grown from just one parent plant.
“types” are created by artificial pollination using different
varieties or even different species. Such “cross-breeds” are Cloning of animals is much more difficult and the first
called “Hybrids”. For example, the “nectarine” is a hybrid mammal clone was not achieved until the 1990’s with the
formed by crossing a peach with a plum. famous “Dolly” the sheep.
Once commercially important varieties are created, huge

HOW TO CLONE A MAMMAL
numbers of seeds are produced, again by artificial
pollination of selected parent plants. This results in PARENT of CLONE EGG DONOR
millions of almost identical plants being grown in crop
“monocultures”.
Commercially it has many advantages, such as great

consistency in growth rates and food quality. Later, we will
discuss possible disadvantages. Unfertilized
Egg
Body Cell
Artificial Insemination (A.I.)
This is basically the animal equivalent. Semen can be Nucleus
collected from a champion bull, divided up into many small removed
Diploid Nucleus
samples and frozen. Distributed anywhere in the world, it Extracted
can be thawed out and inserted into a fertile cow with a
high chance of successful fertilization.
Diploid Nucleus from
Thus a top-quality bull can become the father of many body cell placed into Egg
Cell
thousands of calves, thereby improving the quality of cattle
herds all over the world.
Surrogate “Fertilized” egg
Mother placed in uterus
This works too, for racehorses, dogs, sheep and so on.
There are huge advantages, such as entire herds of high-
quality beef cattle, but there may be disadvantages too...
these will be discussed later.
Normal pregnancy
Humans use A.I. for their own reproduction too. If a man and birth
is sterile, but he and his wife wish to have children, she can
be inseminated with semen from an anonymous donor.
The baby lamb is genetically identical to
There are “sperm banks” of frozen semen for this use. the single parent at top left.
No-one has seriously suggested using this to “improve” the It is an “identical twin”, except younger
human race... this would be an ethical & moral issue.
HSC Biology Topic 2
TM
Reproductive Technologies How Genes are Transferred
& Genetic Diversity The exact mechanism of transfer depends on the species.
Artificial Pollination, A.I. and cloning all have the potential
to diminish the Genetic Diversity of the species involved. Firstly, the gene to be transferred from the “source species”
All these processes, if used on a large scale, result in many needs to be isolated. This is often achieved by collecting
offspring being produced from just a few, or even just one, DNA from cells of this species and chopping it into
parent. This means that all these offspring are closely fragments using “restriction enzymes” from bacteria. These
related to each other and have less genetic diversity. enzymes have the ability to cut DNA into sections. It often
takes a lot of trial-and-error to then locate a fragment of
Already, many of our food crops, such as wheat and rice, the chopped-up DNA containing the desired gene.
are “monocultures” of millions of individual plants who
are “siblings” from relatively few parents. In a banana The desired fragment can then be incorporated into the
plantation, the entire population may be a clone of DNA of the “target species” by several possible methods.
genetically identical plants grown from cuttings and
“suckers” (asexual runners) from a single parent. • In some cases the DNA fragment can be injected into an egg
of the target species. The DNA becomes incorporated into a
Among farm animals such as beef cattle, the widespread chromosome and is an inherited gene from that point on.
use of A.I. to improve herds has also lessened the genetic
diversity of those herds. • Some viruses quite naturally transfer pieces of DNA from
one cell to another. These can be “enlisted” as vectors to
There are many benefits to this, but there may be serious carry DNA to the target cells. The DNA fragment is
consequences too. Remember that genetic diversity inserted into a harmless virus. Then when the virus is
(“variation”) is essential for the long-term survival and allowed to infect a “target cell”, the DNA fragment
evolution of a species. If a species has little variation, then becomes incorporated into its chromosomes.
any change in the environment (eg a new disease, climate
change) might adversely affect ALL the population, and • In the case of transferring human genes into bacteria, the
leave no survivors. same “restriction enzyme” is used to chop-up both the
human DNA, and the bacterial “Plasmid”... a bacterial
Transgenic Species chromosome. Since both were cut by the same enzyme, the
As well as reproductive technologies, humans are altering fragments match-up, and can readily join together when
the “gene pools” of species in another way... mixed in the presence of suitable enzymes. This technique
Genetic Engineering technology is able to transfer one or has been in use for about 40 years, notably to produce pure
more genes from one species to another to form human insulin for treating diabetics.
“Transgenic Species”. Some examples:
Ethical Issues
Gene Transfer Purpose / Benefits Concerning Transgenic Species
Human gene for Bacteria produce insulin (to While Reproductive Technologies may cause some
Insulin hormone treat diabetic patients) cheaply scientific concerns about loss of genetic diversity, the main
inserted into bacteria and in great quantity concerns about Transgenic species tend to be ethical.
Human genes for blood- Sheep can be milked and blood You need to be aware of the issues and prepared to form
clotting factors inserted factors extracted to treat your own, informed opinion... there is no single correct
into sheep, which produce patients suffering Haemophilia answer.
blood factors in their
milk Weigh up the benefits (some listed in table at left) against
the concerns some people raise...
Strawberry plants have Allows strawberries to be
received a gene from a grown in colder areas not • transferring genes, especially human genes, into other
fish, which allows them previously possible species is unnatural, and wrong religiously and morally.
to resist freezing better
• foods from transgenic species may have unforseen
Crop plants have received Crops do not need to be consequences for human health, such as inceases in cancer.
a gene from the sprayed with insecticides to No-one has the right to expose us all to unknown risks.
Pyrethrum plant which control insect pests...
causes the crops to any insect which eats the crop • under current law, the companies who develop transgenic
produce a natural will die species own patents on them, and are making huge profits
insecticide chemical by forcing farmers to use their products or sell-out.
This is seen as unethical, putting profit before people.
HSC Biology Topic 2

TM
CONCEPT DIAGRAM (“Mind Map”) OF TOPIC
Some students find that memorizing the OUTLINE of a topic
helps them learn and remember the concepts and important facts.
Practise on this blank version.
THE BLUEPRINT
OF
LIFE
HSC Biology Topic 2

Practice Questions 7.
These are not intended to be "HSC style" questions, but to An example of “microevolution” that has actually been
challenge your basic knowledge and understanding of the observed to happen, is:
topic, and remind you of what you NEED to know at the A. the extinction of the dodo.
K.I.S.S. principle level. B. divergence of “Darwin’s finches” on the Galapagos
Islands.
When you have confidently mastered this level, it is strongly C. convergence of the shark and dolphin.
recommended you work on questions from past exam D. change in the population of the “Pepper Moth”.
papers.
8.
Part A Multiple Choice When Gregor Mendel crossed pure-breeding tall pea plants
1. with pure-breeding dwarf plants, and bred them through 2
The fossil record shows a pattern, from ancient times to generations, he found that the F2 phenotypes were:
recent times, of: A. 100% tall plants
A. more complexity to less complexity. B. 75% tall: 25% dwarf, approximately.
B. greater diversity to less diversity. C. 50% tall : 50% dwarf, approx.
C. increasing complexity and diversity. D. ratio of 3:1, dwarf : tall, approx.
D. no distinct pattern of change.
9.
2. The genotype of a pea plant described as “heterozygous
The famous fossil “archaeopteryx” is best described as a: tall” would be:
A. common fossil, found in many rock layers. A. Tt B. T C. TT D. tt
B. “transitional form”, showing a stage of evolution.
C. “index fossil”, useful for correlating between locations. 10.
D. “living fossil”; an extremely primitive bird alive today.. In mice, Black coat (B) is dominant to white (b). If a
heterozygous mouse mated with a white mouse, you would
3. expect
Two types of evidence which suggest descent from a A. approximately 75% of the babies to be black.
common ancestor are: B. all the babies to be black.
A. embryos of vertebrates and the pentadactyl limb. C. approximately 50% of the babies to be white
B. convergent evolution and comparative biochemistry. D. all the babies to be white.
C. DNA structure and the biogeography of grazers.
D. natural selection and survival of the fittest. 11.
The following pedigree shows the inheritance of “tooth
4. gap” (a gap between the 2 top-front teeth) in a human
“Natural Selection” refers to family. Shaded shapes show people with a tooth gap.
A. those organisms best suited to the environment survive
and reproduce.
1 2 3 4
B. factors of the environment determining which
organisms survive and which do not. I
C. the changes to living things over many generations.
D. the way that not all organisms can survive because too
many offspring are produced.
II
5. 5 6 7 8 9
The really important part of “Survival of the Fittest” is:
A. being very well adapted to the environment.
III
B. living a long and healthy life.
10 11
C. being “chosen” by the environment to survive.
D. reproducing many offspring.
6. It would be true to say that:

A species has a better chance of long-term survival during A. “tooth gap” is dominant because it’s more common.
changes to the environment if: B. couple 3 & 4 are both heterozygous for this trait.
A. it reproduces asexually. C. the exact genotypes of 10 & 11 are uncertain.
B. most individuals are similarly adapted. D. individual 9 must be homozygous.
C. the species has a lot of variation and genetic diversity .
D. there are many large, strong individuals in the group.

12. A pair of homologous chromosomes: 20.

A. are identical to each other. The factor least likely to be mutagenic is:
B. carry totally different genes A. nuclear radiation.
C. will line up as a pair during mitosis. B. herbicide chemicals like agent orange.
D. carry alleles in corresponding locations. C. ultra-violet light.
D. low temperatures.
13. Meiosis produces:
A. 4 haploid gamete cells. 21.
B. 2 diploid body cells. The base sequence on a part of a DNA chain is
C. 4 identical gametes. ...ATTCGAGGCTAC...
D. 4 non-identical body cells. Which of the following statements is correct?
A. This section could code for 4 amino acids.
14. A “nucleotide” contains: B. The complementary strand would read
A. sugar, phosphate and one of 4 possible “bases”. TAACGACCGTAC.
B. a “base”, phosphate, and one of 4 possible sugars C. This section contains 6 codons.
C. amino acids in a polypeptide chain. D. The corresponding m-RNA section would be
D. base pairs A-T and C-G. ATTCGAGGCTAC.
15. In human sperm cells you would expect to find: 22.

A. 46 chromosomes including an Xy pair. When genes are transferred from one species to another:
B. 46 chromosomes including either an X or a y. A. this reduces the genetic diversity of the species.
C. 23 chromosomes, including an X. B. this is a mutation.
D. 23 chromosomes, including either an X or a y. C. this produces a transgenic species.
D. the result would be a clone of the original.
16. If a recessive gene is “sex-linked” you would expect:
A. males and females to show the phenotype equally.
B. a heterozygous female will show the recessive phenotype.
C. males may inherit the trait only from their mother. Part B Longer Response Questions
D. males will pass the recessive gene on to their sons. Mark values given are suggestions only, and are to give you an idea
of how detailed an answer is appropriate.
17.
In a species of small African rodents it was noticed that 2 23. (4 marks)
grey coloured animals produced a litter of babies that were Explain the difference between “relative dating” of fossils
about 25% white, 25% black and about 50% grey. It seems and “absolute dating”, by outlining how each is achieved
likely that: and what each can tell you about fossils.
A. grey is dominant to both black and white.
B. co-dominant alleles are controlling coat colour. 24. (3 marks)
C. a mutation occurred to produce new colours in the Comparative Anatomy can give evidence supporting the
babies. idea of evolution.
D. grey is a recessive gene, black and white are co- a) Outline an example of comparative anatomy that gives
dominant. such evidence.
b) State how this example is evidence of evolution.
18.
Which of the following is NOT a source of increased 25. ( 3marks)
genetic diversity in a species? Briefly discuss, using an example, how advances in
A. Mutation in a gamete before fertilization. technology have changed scientific thinking about
B. Crossing-over process during mitosis. evolutionary relationships.
C. Independent segregation of homologous pairs in
meiosis. 26. (5 marks)
D. Combining gametes from different parents at Outline the Darwin-Wallace Theory of Evolution.
fertilization.
27. (4 marks)
19. Differentiate between “convergent” and “divergent”
DNA replication is possible because: evolution, giving examples of each.
A. DNA acts as a template to make m-RNA.
B. Each DNA strand makes an identical copy of itself.
C. Each DNA strand makes a complementary strand.
D. The polypeptide chains in DNA are “mirror images”.

28. (6 marks) 33. (5 marks)

Explain the difference between each pair of words: In Drosophila fruit flies, the normal eye colour is red. A
a) Dominant & Recessive genes. recessive, sex-linked gene causes white eyes.
b) Homozygous & heterozygous. Using symbols XR, Xr and y, predict the phenotypes
c) Genotype & Phenotype. (separately for each sex) of the cross between a white-eye
male and a heterozygous red-eye female. Show your
29. (5 marks) working.
Outline the reasons why:
a) Mendel’s experiments were successful in discovering the 34. (5 marks)
fundamentals of how inheritance works. A certain species of African rodent was described in
Multiple Choice Question 17.
b) Mendel’s discoveries were ignored by other scientists for Using appropriate (declared) symbols, predict the outcome
many years. of a mating between a grey and black animal of this
species.
30. (5 marks)
In pea plants, green seed pods(G) is dominant to yellow 35. (3 marks)
pods (g). a) Explain, with the help of simple diagrams if you wish,
A pure breeding green pod plant was crossed with a pure- the process of “crossing over” with chromosomes.
breeding yellow pod plant.
a) Explain why all the offspring will have green pods. b) Explain how this process contributes to the genetic
diversity of a species.
b) One of these offspring plants was later crossed with a
yellow pod plant. Showing all working, predict the c) State one other process which increases genetic diversity
phenotypes (as ratio or percentage) of the offspring from in a species.
this second cross.
36. (6 marks)
31. (8 marks) Use a simple flow chart diagram to outline the process by
a) Use the following information to construct a pedigree which DNA controls the production of a polypeptide.
diagram.
37. (5 marks)
Inheritance of red-hair in the Meggs family. a) What is a “mutagen”?
Fred and Mary both have blonde-brown hair. They have 4
children, a daughter and 3 sons. Their daughter and one son b) Describe 2 pieces of evidence that radiation is
are red-heads, the other 2 sons are similar to their parents. mutagenic.
The red-headed son married a red-headed girl and they
have a son and a daughter. c) Describe using a simple flow chart, how a change in a
DNA sequence could result in a change in cell activity.
b) State whether “red-headedness” is a dominant or
recessive trait, giving reason(s). 38. (4 marks)
Compare and contrast the idea of “Gradualism” in
c) Predict the hair colour of Fred & Mary’s grandchildren. Evolution, with the theory of “Punctuated Equilibrium”.
Explain your answer.
39. (5 marks)
32. (6 marks) a) Outline the process that can be used to make a clone of
a) Sketch one pair of homologous chromosomes, just a mammal.
before a cell was to undergo a cell division.
If the organism is heterozygous for allelic genes “Q” and b) Explain the effect that cloning could have on the genetic
“q”, show on your diagram the positions of all copies of diversity of the cloned species.
these genes.
40. (5 marks)
b) Draw simple sketches to show: a) Give an example of the use of a “transgenic” species,
i) how these 2 chromosomes would line up for mitosis. stating:
ii) the chromosomes in ONE of the cells resulting from i) precisely which species are involved, and
mitosis. ii) the benefit or purpose achieved.
iii) how these 2 chromosomes would line up for meiosis.
ii) the chromosomes in ONE of the cells resulting from b) State an ethical concern that some people might have
meiosis. with the use of this transgenic species.

TM
Answer Section Worksheet 2

Part A
Worksheet 1 a) Mendel b) pea
Part A c) inherited d) pure
a) Palaeontology b) fossils e) pure-breeding f) dwarf
c) less d) more g) F1 h) tall
e) less f) more i) self j) 2nd generation
g) present-day organisms h) millions (billions) k) 3:1 l) genes
i) relative j) correlating m) alleles n) allelic
k) Radiometric l) transitional o) 2 p) the same
m) Archaeopteryx n) dinosaur q) heterozygous r) gametes
o) bird p) how living things are distributed s) fertilization t) parent
q) very similar r) very different u) recessive v) dominant
s) common ancestor t) bone structure w) homozygous x) phenotype
u) for different purposes v) Pentadactyl limb y) actual genes present. z) simple, easily identified
w) DNA x) enzymes aa) pure-breeding ab) large
y) common ancestry z) species can be changed ac) statistically ad) a recognised scientist
ae) German
Part B Part B
a) Charles Darwin & Alfred Wallace 1. a) i) green ii) yellow iii) green
b) more offspring than can possibly survive b) i) GG ii) Gg iii) gg
c) variation (genetic diversity) c)
d) Natural Selection i)
e) best suited f) reproduce / breed
g) Survival of the Fittest h) evolves / changes Gg x Gg
i) predators, food, supply j) who are best suited
k) reproduce l) survive G&g gametes G&g
m) reproduce n) Pepper
o) industrial p) black to light moths G g
q) DDT r) selection
G GG Gg
s) resistant t) extinct
u) Partitioning v) using slightly different resources
w) evolves into several / more than one g Gg gg
x) isolated y) selection
z) Convergent aa) resemble Phenotypes of Offspring
Green : Yellow
ab) similar / same ac) characteristics / adaptations 3:1
ad) dolphin ae) features / adaptations 75% : 25%
af) closely related
Answers only for the rest of these.
ii) Gg x GG: 100% green
iii) gg x GG 100% green
iv) Gg x gg 50% green : 50% yellow
2. a) i) BB x bb: all offspring will have genotype Bb

ii) Phenotype: all will be black
b) i)
Bb x bb
ii)Not surprizing. B&b b&b

gametes
In such small
samples, random
b b
chance can give
results not exactly B Bb Bb
in the expected
ratio. b bb bb
Black : Albino
50% : 50%

TM
3. a) Recessive. Couple 7 & 8 have straight fingers, but had a child Worksheet 3
(11) with curved little fingers. This can only happen if both parents Part B continued
are carrying a “hidden” gene... therefore it must be recessive. 1. d) ii) Females 100% Red-eyed. Males 100% white eyed.
b) S = Straight, s = curved.
c) 1=ss, 2=SS, 3=ss, 4=SS, 5=Ss, 6=Ss, 7=Ss, 8=Ss, 9=Ss, 2. a) XNXN b) XNy c) Xny
10=SS or Ss(uncertain), 11=ss d) XnXn e) XNXn
d) No chance of curved-finger children, because all children must f)
XNy x XnXn
receive a “S” gene from mother who is “SS”.
e) Ss x ss would give 50% curved, 50% straight.
XN & y gametes Xn & Xn
f) It is quite possible. Prediction is not wrong.
In small samples, random chance can result in offspring ratios that
are not in agreement with the prediction. (In a large sample of Xn Xn
offspring there should be approximately 50-50)
XN XNXn XNXn
Worksheet 3
y Xny Xny
Part A
a) nucleus b) cell division
c) homologous d) allelic FEMALES MALES
e) replicated / duplicated f) chromatids 100% normal 100% colour blind
vision
g) identical h) in single file
i) chromatids j) identical 3.
k) parent l) in pairs a)
m) homologous n) 4 RW x RR
o) half p) diploid
q) haploid r) 46 R&W gametes R&R
s) 23 t) Sutton & Boveri
u) chromosomes v) meiosis R R
w) the genes must be located on the chromosomes
x) DNA and protein y) gene R RR RR
z) DNA aa) polymer
ab) nucleotides ac) sugar, phosphate & base W RW RW
ad) A,C,G & T ae) helix
af) 2 ag) A-T and C-G Phenotypes of Offspring
ah) genes from 2 different parents Red : Roan
1:1
ai) Independent Segregation aj) Crossing-over 50% : 50%
Part B b) WW x RW. Phenotypes of offspring 50%White, 50% Roan.

1. a) Males cannot be heterozygous because they only have one X
chromosome. The y chromosome doesn’t carry an allele. 4.
BW x BW
b) From his mother, who gives him his X chromosome. Father a)
gives y, which doesn’t carry an allele.
B&W gametes B&W
c) i) XRXr ii) Red-eyed
iii) She carries the recessive gene and passes it to her children, but
does not show the phenotype of it herself. B W
B BB BW
d) i) Xry x XRXr
W BW WW
Xr & y gametes XR & Xr
XR Xr Black : Speckled : White
1 : 2 : 1
Xr XRXr XrXr 25% : 50% : 25%
y XRy Xry b) BB x WW gives 100% Speckled offspring.

c) BB x BW gives 50% Black and 50% Speckled.
FEMALES MALES
Red:White Red : White
50% : 50% 50% : 50%
HSC Biology Topic 2

TM
5. a) If the 2 alleles are Codominant, then there can be 3 Practice Questions

phenotypes. Part A Multiple Choice
b) Best to use 2 different CAPITAL letters, R & W. 1. C 5. D 9. A 13. A 17. B 21. A
c) i) RR ii) RW iii) WW 2. B 6. C 10. C 14. A 18. B 22. C
3. A 7. D 11. B 15. D 19. C
d)
4. B 8. B 12. D 16. C 20. D
Parents: RR x WW
Gametes: R only W only Part B Longer Response
In some cases there may be more than one
F1: 100% RW (Pink) correct answer possible. The following “model”
answers are correct, but not necessarily perfect.
RW x RW 23. Relative Dating is done by correlating fossils from one place

with those elsewhere. It allows scientists to put things in order,
R&W gametes R&W from oldest to youngest, but the actual ages cannot be
determined.
Absolute Dating involves measuring the radiation from naturally
R W
occurring radio-isotopes. These “decay” at known rates, so the
F2
R RR RW amount of radiation remaining in a rock or fossil allows the actual
age in years to be determined.
W RW WW
24. a) An example is the “Pentadactyl Limb” structure in
vertebrate animals. The bone structures in the fore-limb of a
Phenotypes of Offspring whale, bat, dog, human, lizard, etc. are all essentially the same,
Red : Pink : White even though each looks very different on the outside, and each is
1 : 2 : 1
25% : 50% : 25% used for very different purposes... swimming, flying, walking, etc.
b) This is evidence of descent from a common ancestor which
Worksheet 4 had that bone structure.
a) communication b) collaboration
25. Sequencing the DNA of different species allows their degree
c) Wilkins d) Franklin
of “relatedness” to be determined very precisely, since closely
e) Watson f) Crick related species have very similar DNA.
g) base h) double This has revealed some surprizes that have changed the thinking
i) replicated j) division on evolutionary relationships. For example, it has previously been
k) unzip / untwist l) template thought that lizards and crocodiles (both classified as reptiles) are
m) A & T n) C & G more closely related to each other than to birds. DNA analysis
o) identical p) amino acids reveals that birds are more closely related to crocodiles than either
q) polypeptide r) 3-D shape is to the lizards.
s) sequence t) 20
u) repel v) enzymes 26. (Best in 5 numbered points)
1. All species produce more offspring than can survive.
w) structural x) shape
2. There is variation within each species... not all the same.
y) amino z) DNA
3. “Natural Selection”: the factors of the environment choose
aa) 3 ab) codon which individuals survive.
ac) Transcription ad) m-RNA 4. “Survival of the Fittest”: those best suited to the environment
ae) template af) single survive and reproduce.
ag) sugar ah) base 5. The “survival characteristics” get passed on to offspring so
ai) nucleus aj) mitochondria each generation is slightly different than before. Over many
ak) synthesis al) Translation generations the species changes... it evolves.
am) polypeptide an) t-RNA
ao) mitochondria ap) protein 27. Divergent evolution is when one ancestral species evolves into 2
aq) catalyses ar) pigment or more different species. An example is the finches of the
Galapagos islands, where a different species of finch has evolved on
as) change at) mutation
each separate island, all from a single ancestral species.
au) mutagens av) temperature
Convergent evolution is when different species evolve to resemble
aw) chemicals ax) X-rays each other, even though they are not closely related. An example is
ay) nuclear radiation az) Ultra-violet U.V. the shark & dolphin which are both streamlined, fast-swimming
ba) DNA bb) amino look-alikes, but are not related in an evolutionary sense.
bc) polypeptide bd) shape
be) enzyme bf) pigment 28. a) Dominant gene will always be expressed.
bg) Evolution bh) variation / genetic diversity Recessive gene can only be expressed when no other allele is present
bi) Punctuated Equilibrium bj) remain unchanged (i.e. if homozygous for the recessive gene)
bk) rapid bursts
HSC Biology Topic 2

TM
b) Homozygous means having 2 copies of the same allele for a 32. a)
Homologous pair of
particular trait. eg, AA, or bb. Double chromosomes
Heterozygous means to have 2 different alleles for the trait. eg, Aa
c) Genotype is the description (usually in symbols) of the actual
Q Q q q
genes present for a trait. eg “Aa”.
Phenotype is the outward appearance caused by the genes for that
trait. eg “Purple flowers” or “Dwarf stem”.
29. a) Mendel’s experiments were successful because:

• he chose to study simple traits that occurred in just 2 alternative
forms, such as Tall v. Dwarf. b) i) in a single line ii)
• he began with pure-breeding parent plants.
• he bred large numbers of offspring so the results could be
interpreted statistically.
b) His work was ignored because:
• he was not a recognised scientist, but a monk in an obscure
monastery.
• his findings were published in a little-known journal, in German,
iii) in pairs
so were not read by many people (and those that did, didn’t realize
iv)
the significance).
30. a) Each of the offspring will receive a gene from each parent and
so all will have genotype “Gg”. Since G is dominant, it will be
expressed (= green pods), while the recessive “g” gene will have no
effect.
b)
Gg x gg 33. Xry x XRXr
G&g gametes g&g Xr & y gametes XR & Xr
g g XR Xr
G Gg Gg Xr XRXr XrXr
g gg gg y XRy Xry
FEMALES MALES
Green pod : Yellow pod
Red : White Red : White
1:1
50% : 50% 50% : 50%
50% : 50%
31. a)Shaded shapes are red-heads 34. Gene symbols: B= Black, W=White
Fred
GREY BLACK
Mary
Generations
BW x BB
I
B&W gametes B&B
II B B
3 4 5 6 7
B BB BB
III W BW BW
8 9
Black : Grey
b) Red-headedness must be recessive, because Fred & Mary are not 1 : 1
red-heads, but had red-headed children. They must both carry a 50% : 50%
recessive gene.
c) Must both be red-heads, since their parents are. Since it’s recessive,
both 6 & 7 must be homozygous for red-hair and must pass on
genes to children 8 & 9, who also must be homozygous.
HSC Biology Topic 2

TM
35 a) “Crossing-over” is when 38.
homologous chromosomes exchange Similarity: both are models describing evolution of a species.
corresponding parts of a chromatid Difference:
with each other. “Gradualism” = evolution occurring slowly and steadily over
relatively long time periods.
b) This mixes up the combinations of “Punctuated Equilibrium” = species remains unchanged for long
genes on each chromatid, and results in periods, then evolves in a rapid burst.
more variety of gene combinations in gametes, and in offspring.
c) Mutation / Independent Segregation of homologous 39.
chromosomes in meiosis / Receiving genes from 2 different a) • Body cell taken from “parent”, and nucleus extracted.
parents during sexual reproduction. • Egg cell obtained and nucleus replaced with nucleus from
“parent” cell.
TRANSCRIPTION
36. • Egg cell implanted in uterus of surrogate mother, where
DNA m-R
RNA normal pregnancy and birth occur. Baby is clone of “parent”
Moves to a individual.
Ribosome b) If used on a large scale, cloning would reduce genetic
diversity because less parents are involved and more offspring
would be identical.
TRANSLATION m-RRNA controls
sequence of
Polypeptide amino acids 40.
joined together a) i) Gene from a fish transferred into strawberry plants.
ii) Makes strawberries frost-resistant, allowing them to be
grown in areas not previously possible.
b) Some people may be worried about long term health effects
37. a) Mutagen = something that CAUSES a mutation. of eating transgenic foods.
b) 1. Controlled experiments have demonstrated that mutations (In this particular case, vegetarians might see it as unethical that
are caused in plant seeds, insects, etc which are exposed to the strawberries contain an animal gene.)
nuclear radiation or x-rays.
2. There was a large increase in human mutations and genetic
abnormalities in Hiroshima after the atomic bomb attack of
1945, and the Chernobyl accident in Ukraine 1986.
c)
Altered Altered Altered
DNA m-R RNA Polypeptide
NOTICE ANY ERRORS?
Altered Our material is carefully proof-read

Enzyme but we’re only human
Change in causes different
cell’s activity chemical
product to form If you notice any errors, please let us know
Need to contact us? PO Box 2575

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(02) 6583 4333 FAX (02) 6583 9467
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HSC Biology Topic 2

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keep it simple science Baulkham Hills High School SL#802445

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HSC Biology Topic 2 9 www.keepitsimplescience.com.au

• Each plant carries 2 genes for a characteristic. The 2 genes

The “Punnett Square” working below shows the same

HSC Biology Topic 2

Sample Problem 1 Gametes possible L only and l only

Solution Then, for the F2:

NOW TRY THE PROBLEMS IN WORKSHEET 2

HSC Biology Topic 2

TRY THE PROBLEMS IN WORKSHEET 2

Some human disorders are inherited. Examples are

HSC Biology Topic 2

One of the alleles is dominant to the other, which is called

3. CHROMOSOMES & DNA STRUCTURE

Chromosomes Mitosis & Meiosis

• Chromosomes are thread-like structures in the ORIGINAL BODY

• Chromosomes occur in pairs. Mitosis Meiosis

Notice that homologous pairs Homologous

The chromosomes are

(look at the genes in the

HSC Biology Topic 2

Walter Sutton (USA) and Theodor Boveri (Germany) had A NUCLEOTIDE

The obvious similaries made it clear that the genes must

Chemical analysis reveals that chromosomes are made of

HSC Biology Topic 2

Males have one “X” chromosome, The Explanation:

HSC Biology Topic 2

Phenotypes of Offspring (both sexes)

XRy x XRXr Genotype RW