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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 OF LIFE
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 were introduced to the


concept of Biological Evolution, and the
mechanism of Natural Selection. Now you will
study in more detail the evidence for evolution
and Theory of Evolution.

You will next move on to study things that


Darwin & Mendel would have been delighted to
have known... the cellular and molecular basis of
Genetics and Evolution. You will see the link
between
inheritance,
cell
division,
chromosomes and the basis of it all... the DNA
molecule and the Genetic Code.

Chromosomes

Part of a DNA
molecule

Genetics

In

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 study the simple patterns of
inheritance that he discovered.

section

on

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.

Gregor Mendel (1822-1884)


experimented with garden
peas for 12 years to work out
how parents pass on their
characteristics to offspring.

In the final section you will look briefly at where


modern Biology is heading into Reproductive
Technologies and Genetic Engineering.
(This controversial area can be studied more
thoroughly in one of the later Option topics)

You will study his results and


the reasons for his success
as an experimenter.
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the

Molecular

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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.
The THEORY
of EVOLUTION
The
EVIDENCE
for Evolution

Dominant-R
Recessive
inheritance.
Monohybrid crosses

Divergent
&
Convergent
Evolution

Mendels
experiments

Evolution
of Life

Pedigrees
(Family trees)

Mendelian
Genetics
Chromosomes,
genes & DNA

THE
BLUEPRINT
OF LIFE

Meiosis &
gamete
formation

Chromosomes
&
DNA

Sex-llinkage
&
Codominance

Reproductive
Technologies
&
Genetic Diversity

Molecular Genetics
&
Mutations

DNA
Replication

Transcription &
Translation
Effects on
genetic
diversity

Genetic
Engineering

Punctuated
Equilibrium

The link to
evolution

Artificial insemination
and pollination.
Cloning
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Mutation
&
mutagens

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1. EVOLUTION OF LIFE
The Evidence for Evolution

Fossils of Transitional Forms

There is overwhelming evidence that life on


Earth has undergone a sequence of changes
over the past 3.5 billion years or so. Here, briefly
(K.I.S.S. Principle) are the main sources of that
evidence:

Only a tiny fraction of all the zillions of


organisms that have ever lived have ended up
being fossilised. The fossil record is, therefore,
incomplete and a rather patchy record of
evolution.

Palaeontology

The Study of Fossils


The fossil evidence is undoubtably our most
important, direct evidence showing that life on
Earth has changed.

Despite this patchiness, there are some


fossils that have given us a glimpse of the
change that occurred when one 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... this is evolution.

Perhaps the most famous is Archaeopteryx.


(Archae= ancient, pteryx= wing)

Fossil

Pa
atterns of Cha
ange
Ancient Life
Modern Life
Simple types
Less variety
Less like
present-d
day life

More complex types


Greater variety
More and more
resembling modern life

Bony jaw
with teeth

youngest

How do we know this to be fact? Not only do we


have many fossils of extinct organisms, but we
can place them in time sequence to see the
patterns.

oldest

Reconstruction

Bony tail
covered in
feathers

Clawed wings
It is very unlikely that Archaeopteryx could fly like a
modern bird. It may have climbed trees & glided
down on insect & lizard prey

These fossils
correlate to
each other.

When this fossil was first discovered, its


skeleton was clearly that of a small dinosaur.
Only later was it noticed that the faint outlines
around the fossil were the impressions of
feathers. This was a dinosaur-bird!
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
transitional fossils showing:

The
coresponding
rock layers
(in different
places)
must be the
same age.

reptiles evolving to become mammals.


ferns evolving to become cone-bearing plants.
lobe-finned fish evolving into amphibians.
...and many more, including fossils of
our own probable ancestors, who were very
ape-like, but undoubtably human-like too!

Initially, scientists could only place fossils in


relative time order by correlating the
sequences, as suggested in the diagram above.
Now we can also place absolute times on many
fossils by Radiometric Dating... the
determination of the actual age of things by
measuring the residual radioactivity of certain,
naturally-occurring radio-isotopes in the rocks.
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Biogeography

Comparative Embryology

(how life is distributed)


When Charles Darwin travelled around the world
on board HMS Beagle in the 1830s, it was the
distribution of different types of life in different
places that first gave him the idea for Evolution.

If the embryos of various vertebrate animals are


compared, it is found that they are remarkably
similar, even though they later develop into
quite different animals.

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:
North America

...and
what they develop into

OZ

Why should they be so similar when they grow


up to be very different animals? Why should (for
example) a human embryo have a tail and gill
arches like a fish?

All these
Sth America
animals are
relatively
large, fastrunning,
Africa
with flat
grinding
teeth, and all lead pretty much the same lifestyle.
So why is there not just one type of large grazer
in the world, living on every continent?

Comparative Anatomy
When the body structures of different
organisms are compared, it is often obvious that
they share common features, even though those
body parts might be used in different ways.

Evolution explains why. On each separate


continent different animals have evolved to fill
the large grazing herbivore role, often
beginning that evolution from an ancestor quite
different to that on other continents.

The classic example of this is the Pentadactyl


Limb structure of the vertebrate animals.
1 bone in
upper arm

Another aspect of Biogeography was seen by


Darwin on a much smaller scale in the Galapagos
Islands. He discovered that the islands were
populated by many different species of small
birds... finches. Although all were obviously
related to each other, each separate island had its
own particular species.

2 bones
in forearm
5 sets
of finger
bones

Ancestral Finch

Why?

Island 1

Island 2

Human
arm

Whale
flipper

Bat
wing

Each limb is used in very different ways by


animals that have very different lifestyles, yet all
have exactly the same basic arrangement of
bones. Why?

Island 3

The explanation is:


the islands were first colonised by one type of
finch which spread to all of the islands in the group.
on each separate island conditions were different
(eg different foods available) so each population
evolved in a different way, into a different species.

Once again, these are FACTS that are consistent


with, and easily explained by, the concept of
EVOLUTION.

BIOGEOGRAPHY doesnt prove Evolution has


occurred, but many facts about the distribution
of organisms are best explained by Evolution
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Not
to
same
scale

Evolution explains this as the result of all these


animals evolving from a common ancestor
which had this bone structure.

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(Penta= 5, dactyl=fingers)

Evolution explains this as the result of all these


animals evolving from a common ancestor
which had an embryo like this.

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Biochemistry

Selective Breeding

All the life-forms on Earth have remarkable


similarities at the molecular level. All organisms
have basically the same:

People wonder how one organism can just


turn-into another by evolution. No individual
animal changes during its life-time. The changes
occur from one generation to another, as certain
features are selected in favour of others.

genetic code in their DNA.


enzymes used for basic metabolic processes,
such as cellular respiration.
structural chemicals in their basic cell
components, such as the phospholipids
in cell membranes.

Humans have been doing it to plants & animals


for centuries. Human farmers have always chosen
which seeds to keep for next years crop, or which
bull to breed with the cows.
This has drastically changed all these plants and
animals. Modern wheat is nothing like the wild
grass we believe it was bred from. Cabbages and
cauliflowers used to be the same thing, but have
been changed by selective breeding.

WHY SHOULD ALL ORGANISMS HAVE THE SAME


STRUCTURES AND CODES IN THEIR DNA?

All breeds of dogs are


descended from the wolf.

Once again, this doesnt prove that evolution


occurred, but it is consistent with the idea that
life on Earth has evolved from common ancestors
who had these biochemical features.

Selective Breeding
proves that a species can be changed.
Humans can do it artificially,
in the wild it happens by Natural Selection

New Technologies Change 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.
This relationship has been overturned
by DNA analysis.

For
example,
the
evolutionary
relationship
between
LIZARDS,
CROCODILES and BIRDS.

DNA sequencing shows that birds and


crocodiles are more closely related to
each other than either is to the lizards.

Traditionally crocodiles & lizards are


classified as Reptiles and considered
a separate class to the Birds. It was
always thought that the lizards and
crocodiles were more closely related to
each other than to the birds.

CLASSIFICATION IN THE FUTURE?


LIZARD is
DIFFERENT
Croc & Bird in SAME GROUP

TRADITIONAL CLASSIFICATION

Based on DNA
studies, which
show
evolutionary
relatedness

BIRD is
DIFFERENT
Croc & Lizard in SAME GROUP

Stand by for more revelations as


DNA analysis reveals more!

Based on body
structure
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Origin of a Theory
Meanwhile, another Englishman, Alfred
Wallace (1823-1913) came up with
exactly the same idea after his journeys
in the 1840s and 1850s. We often give
Darwin most of the credit for this major
scientific
theory,
but
Wallaces
contribution should not be forgotten.

Darwin & Wallace


In the 1830s a young naturalist,
Charles Darwin (1809-1882), voyaged
around the world on the naval survey
ship HMS Beagle. He became
convinced that living things had
changed, and spent the next 20 years
researching, gathering evidence and
developing the how of a theory to
explain evolution.

In 1859 they jointly published an outline


of their theory, and Darwin followed up
with his detailed book Origin of
Species about 2 years later.

Charles
Darwin

The Darwin-Wallace
Theory of Evolution

Natural Selection
Natural Selection refers to the way that
the conditions of nature 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.

You need to learn the details of this theory. This


is best done as a series of numbered points:-

1. All organisms produce more


offspring than can survive
Plants scatter thousands of seeds and maybe
only one ever 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 far
higher than the survival rate.

How Natural Selection Works


A population of a species with a lot of variations

2. In every species there is variation


among the individuals
Each animal or plant is slightly different to the
other members of the species. The differences
may be slight, and might not be easily visible,
but theyre important!

hairy

long
neck

long
legs

light
colour

Then, the climate changes...

If you put points 1 & 2 together, you can see that


survival is uncertain, AND the chances of
survival are not equal for each individual.

Natturral
Selecttion
n

3. Nature selects which


individuals survive

hairy survives

This is called Natural Selection, and it is


explained in more detail at right.

Surrvival
of the
Fitttestt

4. Those best suited to their


environment survive, reproduce,
and pass on their characteristics
This is called Survival of the Fittest, and it will
be discussed in more detail later.

big
ears

squat
body

winters get colder

Many die in the harsh winters

Squat survives
Survivors breed
over many generations

5. Over generations, the species


changes...It Evolves

The survivors pass on their characteristics.


Soon most of the population are squat and hairy.
No single animal changed, but the population has
changed because of which animals
survived and reproduced.

Each generation is slightly different than before,


because only some, selected individuals have
bred and passed on their characteristics.

Even
ntually itt chan
nges so much thatt itt
becom
mes a differren
nt species.

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The Species ha
as Evolved.

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A Change in the
Physical Environment

More on Natural Selection


Any characteristic might be a help to survive
under different conditions...
a stronger immune system survives diseases.
being more inquisitive might find more food.
more timid behaviour might avoid dangers.
brighter coloured flowers might attract
more pollinators and ensure reproduction.
larger body size might deter predators.
smaller body size might allow more food
gathering on small branches of trees.

A classic example of micro-evolution is the


change in the population of the English Pepper
Moth which has been studied and documented
over the past hundred years.
This moth always rests during the day on tree
trunks, which in natural forests, are mostly
covered in light-patterned lichens. Under these
conditions the light peppery moths are the
most common form, although occasional black
moths occur.
Lighter-c
coloured

It may seem as if Evolution is an intelligent


force which directs organisms in a an appropriate
direction. In our fictitious population of animals,
(previous page) the climate became colder and it
would seem that some evolutionary force caused
an appropriate change in the population... the
animals became squat & hairy to conserve body
heat better.

In unpolluted
forests, the lightercoloured moths are
camouflaged... They
are fittest for
survival and
breeding.

Predators spot the black


moths more easily

But of course squat and hairy were already in


the population. Their type simply became more
common, and finally predominant, because they
survived in greater numbers and reproduced to
pass on their characteristics to their offspring.

moths survive and


breed in greater
numbers

Population ratio.
The black form
is rare.

During the coal-burning phase of the Industrial


Revolution many forests were damaged by
pollution. The lichens were killed and tree
trunks blackened with soot.

Evolution is not intelligent. Nature selects the


survivors from the different types available.
Survivors breed... if youre dead, you cant
reproduce!

It was observed that the Pepper Moth population


changed in the proportion of peppery to black
types.

Effects of Changing Conditions

In polluted forests,
the dark-c
coloured
moths are better
camouflaged...
They are fittest for
survival and
breeding.

Environments can change in many different


ways. For example, we know that ice-ages come
and go, and climates change as the continents
gradually drift to new locations. 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 change.

Predators spot the lighter


moths more easily

If the change is sudden and drastic, there will be


fewer survivors every generation and the
species may decline into extinction!

Black moths survive


and breed in greater
numbers

Population ratio.
The lighter form
is rare.

Now that industrial pollution has been stopped,


the moths have evolved back to being mostly of
the lighter-coloured type.

A Change in the Chemical Conditions of the Environment


Over many generations the non-resistant types
were killed, and resistant types kept surviving and
breeding until almost the entire population was
resistant. DDT was no longer useful for killing
insects. (Just as well, because DDT caused
ecological damage by Biological Magnification.)

Another example of micro-evolution was


observed when DDT insecticide began to be used
against a variety of insects, such as diseasecarrying mosquitoes or crop-eating pests.
Initially, the chemical was a huge success,
destroying the insect populations. But then
Natural Selection did its thing...

The DDT acted as a Chemical Selecting Agent


resulting in the evolution of the insects by natural
selection and survival of the fittest.

Among the millions of insects in each


population there was variation. A few individuals
had a natural resistance to the DDT and they
survived and reproduced and passed on their
resistance to their offspring.
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Similar examples have been observed with


bacteria becoming resistant to Penicillin and other
antibiotics.
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Natural Selection and Competition


Survivors
breed
and
pass
on
their
characteristics. Over generations the species
evolves to be using a slightly different resource.
Therefore, it is no longer in competition and
both species can survive... a Win-Win
situation.

Population Size (ABUNDANCE)

In a previous topic it was pointed out that


competition between 2 species for the same
resources usually results in a winner and a
loser... the loser becoming extinct, at least
within the area of competition.
A TYPICAL COMPETITION GRAPH
Species using resource.
Population stable

New competitor
enters ecosystem

ER
N
IN
W

LO
SE
R

TIME (years)

However, this is not the only possible outcome.


If among 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 utilise
different nesting sites, then they will have an
advantage to survive.

This outcome is called Resource Partitioning


and is commonly observed in nature. For
example, the predatory big cats of the African
plains avoid competition because each has
slightly different preferences among the various
prey animals. They also have different hunting
techniques, so they avoid direct competition.

More on Survival of the Fittest


The Importance of Variation

Survival does not just mean survival. The


biggest toughest animal in the herd, who scares
predators away, gets to eat most of the food and
lives to a ripe old age, is a complete failure if it
does not reproduce!

It is vital for the on-going survival of a species


that it has variation among the individuals of the
population.

In evolutionary terms Survival means to


survive and reproduce.

When changes occur in the environment, a


species with a lot of variation has more chance
to survive, because out of all the different
types there is a good chance that at least
some will survive to breed and continue the
species.

Reproduction is the
true measure of survival.
An animal which does not live long, but
manages to produce many, viable offspring is an
evolutionary success!

A species with little variation within it, might


have no survivors from an environmental
change, and become extinct.

Fittest refers to those individuals with a


combination of characteristics best suited to
their environment.
It doesnt just mean
biggest, fastest,
strongest... those
best suited to some
environments might
be the smallest,
sneakiest, most
cautious types.

What constitutes an environmental change?


It could be...

a change of climate.
a new disease, predator or competitor.
a change in availability of a food.

... or the most


cha
arming and
socia
ally
accepta
able
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...or any other biotic or abiotic factor


of the environment.

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Directions of Evolution
It is easy to imagine that evolution has a target that it aims for.
Looking back at fossil ancestors of a modern species, its easy to think that those
ancestors were deliberately evolving to become the modern, final species.
Ancestors always look primitive compared to their modern descendants.
Of course, the modern species is NOT the final outcome at all.
Evolution has no targets. It is an on-going process which continues to cause changes.
In 100 million years time, the fossils of todays creatures will seem primitive.

Divergent Evolution

Convergent Evolution

(Diverge = move apart)

(Converge=come together)

One of the aspects of evolution to be


aware of is the importance of Isolation.

If totally different organisms live in the


same kind of environment and lead
similar lifestyles they will be subject to
the same sorts of Selection Pressures
and evolve many of the same features,
so they may come to resemble each
other even though not closely related at
all.

Rember Darwins finches


Galapagos Islands?

on

the

Ancestral Finch

More

Island 1

Island 2

A classic example is the shark (a fish),


dolphin (a mammal) and the extinct
ichthyosaurus (a reptile).

Island 3

From one ancestral species of finch


over a dozen different species evolved,
one on each of the islands in the group.
Once a population of finches colonised
a new island they were isolated from
other populations. Movement of birds
between islands must have been a rare
event, and each population was
effectively
cut
off
from
other
populations.
On each island conditions were
different...
different
foods
were
available, different conditions of water
supply, shelter, nesting sites, predators
and so on. Natural selection caused
each population to evolve along a
different path until they became
different species... they had diverged!

All 3 animals are (were) fast-swimming


fish-hunters of the ocean. All evolved
the same streamlined shape, powerful
tail, dorsal fin and sharp teeth to suit
this lifestyle. The resemblance is
superficial, and they are very different
in the details of body structure and
metabolism. For example, the shark is
a gill-breathing ectotherm, while the
dolphin is a lung-breathing endotherm.

Now, even if they mixed together again,


they could not interbreed because their
mating rituals, sperm & egg cells and
DNA have changed to become
incompatible. They are forever separate.
This is how we think all species have
arisen from common ancestors over
millions of years.
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There are many other examples


of such convergence.
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Worksheet 1 Evidence for Evolution


The most important, direct evidence for
Evolution comes from a).......................................,
the study of b)......................... This shows that
life on Earth has changed from being
c).................. complex to become d).....................
complex, and showing e)..................... variety to
f)....................... variety and becoming more and
more like g)..........................................................
over a period of h)................................ of years.

`Name....................................
Biogeography is the study of p).............................
............... It gives indirect evidence for evolution.
Comparative Embryology reveals that vertebrate
embryos are all q)............................... to each
other, even though each animal grows up to be
r)..................................... This is explained by
evolution as being due to these animals all
evolving from a s)...................................................
Similarly, the study of Comparative Anatomy
shows much the same. For example, the
forelimbs of vertebrates have the same
t)................................ even though each animal
uses the limb u).................................................
This 5-digit limb structure is called
v).....................................

Initially scientists could only place fossils in


i)..........................
time
order
by
j)............................... the fossils from one place to
another. The technique of k)...................................
dating has allowed absolute ages to be
measured.
An
important
type
of
fossil
is
a
l)............................ form, which is an inbetween organism. A good example is
m)................................... It appears to be a
n)........................... in the process of evolving into
a o)....................

Biochemistry reveals that all organisms have


the same genetic code in their w).........................
and use the same x).................................... to
control their metabolic processes. This is
evidence of y)..........................................................
Selective Breeding of domesticated plants and
animals shows that z)............................................

Worksheet 2 Theory of Evolution

Name....................................

The Theory of Evolution was developed


independently by a).................... and ...................

pollution changing the background colours of


its environment. This led to a change in the ratio
of p)........................................................................

It can be summarized in 5 main points:


1. All organisms produce b)..................................
2. Every species shows c)......................................
3. d)..................................................... occurs to
choose the survivors.
4. Those organisms e)................................. to the
environment survive and f)..............................
This is called g)...................................................
5. Over generations, the species h).......................
because the selected characteristics are being
passed on in greater proportions.

Another example was due to a chemical change


in the environment. When the insecticide
q)....................... was widely used it acted as a
r).......................... agent, causing mant pest
species to evolve to become s)..............................
Competition for resources can result in one
species losing and becoming t)............................
However, another possible outcome is called
Resource u)................................. which results
if one species evolves to avoid the competition
by v).........................................................

Natural Selection refers to the way that the


forces of nature choose who survives. These
forces of nature could include disease,
i)............................... and .......................................,
and any factors in the environment. Survival of
the Fittest refers to how the organisms
j)........................................ to the environment will
survive and k).....................

Divergent Evolution is when one species


w).......................... into ...........................................
This happens when different populations of a
species become x)................................ from each
other. Each population is subject to different
y).......................... pressure due to the differing
environments.

Variation within a population is vital so that if the


environment changes, there are more likely to
be some individuals who will l).............................
and m).......................................

z)....................... Evolution is when quite


unrelated species evolve to aa).............................
each other. This can happen because they live in
ab).................... environments and so natural
selection favours evolution of similar
ac).............................. A good example is the
shark and ad)........................... which have many
common ae).................................. even though
they are not af)............................... to each other.

Changes to actual populations have been


observed. The n)......................... Moth of England
was observed to undergo a population change
over generations due to o).....................................
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Worksheet 3

Test Questions

Section 1

Name....................................

Multiple Choice

Longer Response Questions

1.
The fossil record shows a pattern, from ancient
times to recent times, of:
A. more complexity to less complexity.
B. greater diversity to less diversity.
C. increasing complexity and diversity.
D. no distinct pattern of change.

Mark values given are suggestions only, and are to


give you an idea of how detailed an answer is
appropriate. Answer in space provided, or on reverse.

8. (4 marks)
Explain the difference between relative dating
of fossils and absolute dating, by outlining
how each is achieved and what each can tell you
about fossils.

2. The famous archaeopteryx is a:


A. common fossil, found in many rock layers.
B. transitional form, showing a stage
of evolution.
C. index fossil, useful for correlating between
locations.
D. living fossil; an extremely primitive bird
alive today.

9. (3 marks)
Comparative Anatomy can give evidence
supporting the idea of evolution.
a) Outline an example of comparative anatomy
that gives such evidence.

3.
Two types of evidence which both suggest
descent from a common ancestor are:
A. embryos of vertebrates & the pentadactyl limb.
B. convergent evolution and biochemistry.
C. DNA structure and the biogeography.
D. natural selection and survival of the fittest.
4.
Natural Selection refers to
A. those organisms best suited to the
environment survive and reproduce.
B. factors of the environment determining which
organisms survive and which do not.
C. the changes to living things over generations.
D. the way that not all organisms can survive
because too many offspring are produced.

b) State how this example is evidence of


evolution.

10. ( 3marks)
Briefly discuss, using an example, how
advances in
technology have changed
scientific
thinking
about
evolutionary
relationships.

5.
The really important part of Survival of the
Fittest is:
A. being very well adapted to the environment.
B. living a long and healthy life.
C. being chosen to survive.
D. reproducing many offspring.

11. (5 marks)
Outline the Darwin-Wallace Theory of Evolution.

6.
A species has a better chance of long-term
survival during changes to the environment if:
A. it reproduces asexually.
B. most individuals are similarly adapted.
C. the species has a lot of genetic variation.
D. there are many large, strong individuals.
12. (4 marks)
Differentiate between convergent and
divergent evolution, giving examples of each.

7.
An example of microevolution that has
actually been observed to happen, is:
A. the extinction of the dodo.
B. divergence of Darwins finches on the
Galapagos Islands.
C. convergence of the shark and dolphin.
D. change in the population of Pepper Moths.
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2. MENDELIAN GENETICS
Next, he self-pollinated the plants of the F1.

In Charles Darwins lifetime there were 2 parts of


his Theory of Evolution that no-one could
explain:
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!

TALL F1 plant

SELF

SELF
POLLINATED

Gregor Mendels Experiments


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


occurred in a ratio of 3:1

Mendel didnt do this with one or two plants, but


with hundreds. His 2nd generation totalled
thousands of plants, not just a few.

First he bred his pea plants over several


generations to select plants that were pure
breeding
for
certain
contrasting
characteristics, such as...

TALL

DWARF

PURPLE
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.

WHITE
FLOWER

Reasons for Mendels Success


as an Experimenter

Each type was pure breeding, meaning that if


they were self-pollinated they always produced
offspring of exactly the same type as themselves.

Gregor Mendel had discovered the basic


mechanism of inheritance. Scientists
before him had studied inheritance, but
had failed to discover the simple patterns.
Why was he successful?

Then he cross-pollinated 2 contrasting types to


obtain hybrid (cross-breed) offspring. The
result was that all the offspring showed the
characteristic of one parent and none took after
the other. For example, when TALL plants were
crossed with DWARF:

He chose simple, easily-identified


characteristics which occurred in just 2
forms.
e.g. height was either tall or dwarf.

X is shorthand for
crossed with

F1 (1st Generation) Offspring were ALL TALL

He began with pure-breeding parent


plants.
He bred large numbers of plants so
that the numbers of offspring were
statistically significant.
(If hed bred just a few offspring then
random chance could have produced
misleading results.)

Mendel explained this result by suggesting that


the factor (GENE) which caused Tallness was
DOMINANT to the gene for Dwarfism.
Dwarf is RECESSIVE to Tall.
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Mendels Explanation of Results


(Using Modern Terminology)
Each characteristic is produced by factors (we
now call them genes) carried by the plants. For
example, there is a gene for tallness of stem,
and a corresponding gene for dwarf stem. There
is a gene for purple flower and another for white
flowers, and so on for other characteristics.
The genes which control opposite forms of
the same characteristic are called alleles, or
allelic genes. Genes for tall and dwarf are
alleles. Genes for purple flower and white
flower are alleles.

Mendels Pure-B
Breeding
parent plants were
homozygous for each
trait... 2 genes the same

PARENT
PLANTS

Tall
TT

These are
Genotypes
the actual
genes
present

Each plant carries 2 genes for a characteristic.


The 2 genes may be the same as each other
(homozygous) or different to each other
(heterozygous).

Self-p
pollinating
the F1 plants is
the same as
crossing with
the same
genotype

Example: for the height characteristic, the


possibilities are:
TT = homozygous, Tall plant
Tt = heterozygous, Tall plant (T dominant)
tt = homozygous, Dwarf plant

Dwarf
tt

Only 1
gene is
passed
into
gametes

GAMETES

Fertilisation

All the F1
offspring
receive this
combination
of genes

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:
e.g. Tall ( T ) is dominant to Dwarf ( t )
Purple flower ( P ) is dominant to white ( p )

These are Phenotypes...


descriptions of the outward
appearance

ALL THE F1
OFFSPRING ARE
TALL, BUT
HETEROZYGOUS

Tt
Tall

Next, the F1 plants were selfpollinated to produce the F2


Tall
Tt

Possible
GAMETES

Tall
Tt

possible
fertilisations

Although each plant carries 2 genes for each


characteristic, only one gene is passed into the
gametes (pollen or ovules). Each parent passes
on one gene, so the offspring gets one from
each parent and gets back to having 2 genes for
the characteristic.

TT
TALL

Tt
TALL

Ratio of Phenotypes

Which one of the 2 genes for each characteristic


is passed on is completely at random.

Tt
TALL

tt
DWARF

3 Tall : 1 Dwarf

The diagram (above, right) explains why Mendel observed a ratio


of about 3:1 in the plants of his F2 offspring.
His experimental ratios were approximately 3:1, but not exactly 3:1. This is
because the actual combinations of gametes at fertilisation occur at random.
He bred large numbers of plants and so his actual ratio
was very close to theoretical.

Reasons Why Mendels Work Was Ignored


Mendel published his results in 1865 in a German Science journal and was totally ignored. Why?
He was not a recognised scientist, and had no contact with the scientific establishment of his
time. His work was read by only a small circle of people, who failed to see its significance.
His work was written only in German, while all the important science of that time was
appearing in English or French, in well-known journals in England, France & USA.
It was not until well after Mendels death that in 1900 his work was discovered by scientists,
and his great contribution was recognised. He is now known as the Father of Genetics.
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The Punnett Square

the table shows all


the possible
genotypes of the
offspring

The Punnett Square working (right) shows the


same cross... the formation of the F2 plants in
Mendels experiment.

bb

Bb

bb

bb

tt

Phenotypes of Offspring
Tall : Dwarf
3:1
75% : 25%

ll

LL x
L only

l only

and

Then, for the F2:


Genotypes of
parents

b&b

Bb

Tt

All the F1 flies must


be Genotype:
Ll
Phenotype: 100% Long winged

Solution

Gametes possible:

In mice, black coat (B) is dominant to albino (b).


Predict the outcome of mating a heterozygous
black mouse with an albino.

Tt

Parents genotypes:

Sample Problem 1

TT

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.

gametes

In drosophila fruit flies, the allele for long wings


(L) is dominant to the allele for short wings ( l ).
A pure breeding long winged fly was crossed
with a short winged fly. Their offspring were
allowed to mate among themselves to produce a
second generation. There were 240 flies in the
F2. Predict how many of each phenotype would
occur.

It has been found that there are many


characteristics, in all sexually-reproducing
organisms, which are inherited just the way
Mendel discovered...
these are cases of Mendelian Genetics and
you need to be able to predict the outcomes of
simple crosses.

B&b

Sample Problem 2

mono = 1 (referring to just one characteristic)


hybrid = cross-breed

T&t

gametes

phenotypes of
offspring should be
shown as a ratio or
percentage

Monohybrid Crosses

Bb

Tt

T&t

The working out of a cross by a diagram can


be a bit messy and confusing. A scientist called
Punnett invented a simpler method which you
must learn to use.

Parents are

Tt

parent
genotypes

List of all
possible
gametes

Punnett Square
table shows all
the possible
offspring
genotypes

Phenotypes of Offspring
Black : Albino
1:1
50% : 50%

The phenotypes
of offspring are
written as a ratio
or percentage

L&

gametes

L&

LL

l
l

ll

Phenotypes of Offspring
Long Wing : Short Wing
3:1
75% : 25%

If the F2 comprises 240 flies, we should expect close to


180 long wing flies and 60 short wing flies.

You will soon come to realise that


only 3 outcomes are possible:
100% : zero
50% : 50%
75% : 25%
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However, this is a statistical prediction only, and


we should not be surprised if the actual numbers
were (say) 190 to 50, just by random chance.
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Pedigrees (Family Trees)

Interpretation of this Pedigree

Another skill you must learn is how to read,


interpret and construct a pedigree diagram.

In Generation I, individuals 1 & 2 were both


tongue-rollers. 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 some characteristic
over a number of generations.

This means the inability to tongue roll must be


recessive.
(Whenever a child shows a trait different to both
parents, the childs phenotype must be
recessive.)

Symbols Used in Pedigree Diagrams


Male
without trait

Male
with trait being studied

Therefore,
dominant.

Female
without trait
Horizontal connections are marriage lines.
Vertical lines lead to children of that couple.
Each generation is numbered by Roman
Numerals.
Individuals may be numbered for identification.

tongue-rolling

ability

must

be

Female with trait

We can now assign symbols...

tongue-rolling = R non-rolling = r
...and work out most peoples genotypes:
1
2
3
4
5
6
7
8
Rr
Rr
?
rr
?
Rr
rr
rr

(Individuals 3 & 5 might be either RR or Rr.


... more information needed to be sure which)

Example
In humans, some people can roll their tongue
while others cannot. This is passed on by
simple Mendelian Inheritance. Here is a
pedigree of a family showing how this trait was
passed on.
1

Generations

Questions & Answers


How can we be sure that parents 1 & 2 are both
Rr (heterozygous)?
A: Since they produced son 4 who is a nonroller (must be genotype rr) both 1 and 2 must
be carrying the recessive gene. Therefore, both
must be Rr.

II

Can we be sure that son 6 is Rr and NOT RR?


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.

III
8

9
rr

If 6 and 7 had another child, could it be a


tongue roller? Whats the chance?
A: Yes.
The cross is Rr x rr.
If you work out a punnett sqare for this, you will
see that 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.

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.

Sarah can...

Nathan cant

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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 people about the
risks to future children. This allows people to make
informed decisions about family planning.
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Worksheet 4

Mendelian Genetics

Fill in the blank spaces

Name....................................

Gregor a)........................ was a monk who


experimented with b)................ plants and
discovered the basics of how characteristics are
c)................................. He started with plants that
were d).................-breeding for 2 opposing traits,
and crossed them. For example, he crossed
pure-breeding
tall-stem
plants
with
e)................................, f).....................-stem plants.
In the first generation, or g)........., the offspring
plants were 100% h)................. When these were
allowed to i).....................-pollinate, the F2 (which
means j)........... .............................) showed a ratio
of k)....................... of tall to dwarf plants.

One of the alleles is dominant to the other, which


is called u).......................... The v).........................
gene will always show its effect, but the
recessive one can only be expressed in the case
where it is w).................-zygous. The appearance
of an organism due to its genes is called the
x)..............................., while the genotype is the
y).....................................................................
Mendel was successful, where others had failed,
because:
1. he chose z)................................. characteristics
2. he began with aa)......................... parent plants
3. he bred ab)................... numbers of plants so
the numbers of offspring would be
ac)........................................ significant.

He explained these results as follows:


Each trait is determined by factors we now call
l)................. The genes which control the
opposing traits of a characteristic are called
m)......................., or n).............................. genes.
For each characteristic, an organism always has
o)........... genes, which may be p)..........................
(homozygous), or may be different (called
q)...................................) In sexual reproduction,
the r)...................... (eg sperm/eggs) contain only
1 of the genes for each trait. When the gametes
unite at s).........................., one gene from each
t)............. are brought together in each offspring.

Worksheet 5

However, Mendels achievements were not


recognised
because
he
was
not
ad).............................................. and because his
findings were published in an obscure journal
written in ae)................................. and did not
come to the attention of the scientific
community until after his death.

Mendelian Genetics Problems

1.
In pea plants, green seed pods (G) is a dominant
trait over yellow seed pods (g)
a) What is the phenotype of a plant, if the
genotype is:
i) GG?
ii) gg?
iii) Gg?

Name....................................

2.
In rats, black fur (B) is dominant to brown (b).
a) If a pure-breeding black rat mated with a purebreeding brown rat, what would be the
i) genotypes of the offspring?
ii) phenotypes of the offspring?

b) What is the genotype of a plant with seed


pods that are:

b) One of the offspring from the cross described


in part (a) was crossed with a brown rat.

i) green, and it is pure-breeding?


i) Use a punnett square to predict the outcome.
ii) heterozygous?
iii) yellow?
c) Use a punnett square to predict the outcome
of each of the following crosses. In each case,
state the expected phenotypes of the offspring
as a percentage. (Answer on reverse)
i) Gg x Gg
ii) Gg x GG
ii) In fact, they produced 7 babies; 5 black & 2
brown. Is this result surprising? Explain your
answer.

iii) gg x GG
iv) Gg x gg

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Worksheet 6

Pedigrees

In humans, some people have little fingers that


are straight, while others have curved little
fingers. This characteristic is inherited by
simple Mendelian inheritance. Study the
pedigree diagram, then answer the questions
which follow.
Shaded shapes represent curved little fingers.

II
5

III

a) Is the curved little fingers trait dominant or


recessive? Explain your answer referring to
specific individuals above.

10

11

d) Couple 1 & 2 had children who all have


straight fingers. Was there any chance they
might have had a child with curved little fingers?
Explain your answer.

b) Assign the letters S and s appropriately to


the 2 alleles operating in this pedigree.

e) Person 5 later married a girl with curved little


fingers. Use a punnett square to predict the
finger shapes of their children. (on reverse)

c) Extra information: individuals 2 & 4 are


homozygous.
Using the symbols chosen, work out the
genotypes of everyone in the pedigree, as far as
is possible.

f) In fact, person 5 and his wife had 2 beautiful


little girls both with straight fingers. Is this
possible? Is your prediction wrong?

Worksheet 7 Test Questions section 2


5. (cont)
Multiple Choice

Name....................................

b) Mendels discoveries were ignored by other


scientists for many years.

1. When Gregor Mendel crossed pure-breeding


tall pea plants with pure-breeding dwarf plants,
and bred them through 2 generations, he found
that the F2 phenotypes were:
A. 100% tall plants
B. 75% tall: 25% dwarf, approximately.
C. 50% tall : 50% dwarf, approx.
D. ratio of 3:1, dwarf : tall, approx.

6. (5 marks)
In pea plants, green seed pods(G) is dominant to
yellow pods (g).
A pure breeding green pod plant was crossed
with a pure-breeding yellow pod plant.
a) Explain why all the offspring will have green
pods.

2. The genotype of a pea plant described as


heterozygous tall would be:
A. Tt B. T
C. TT D. tt

b) One of these offspring plants was later


crossed with a yellow pod plant. Showing all
working, predict the phenotypes (as ratio or
percentage) of the offspring from this second
cross.

3. In mice, Black coat (B) is dominant to white


(b). If a heterozygous mouse mated with a white
mouse, you would expect
A. approximately 75% of the babies to be black.
B. all the babies to be black.
C. approximately 50% of the babies to be white
D. all the babies to be white.

7. (8 marks)
a) Use the following information to construct a
pedigree diagram.
Inheritance of red-hair in the Meggs family.
Fred and Mary both have blonde-brown hair.
They have 4 children, a daughter and 3 sons.
Their daughter and one son are red-heads, the
other 2 sons are similar to their parents. The redheaded son married a red-headed girl and they
have a son and a daughter.

Longer Response Questions


4. (6 marks)
Explain the difference between each pair of
words:
a) Dominant & Recessive genes.
b) Homozygous & Heterozygous.
c) Genotype & Phenotype.

b) State whether red-headedness is a


dominant or recessive trait, giving reason(s).

5. (5 marks)
Outline the reasons why:
a) Mendels experiments were successful in
discovering the fundamentals of how
inheritance works.
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c) Predict the hair colour of Fred & Marys


grandchildren. Explain your answer.

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3. CHROMOSOMES & DNA STRUCTURE


Chromosomes

Mitosis & Meiosis

Mendels discoveries were re-discovered by


mainstream science in 1900. At about the same
time, new techniques in using stains to
highlight specific parts of the cell had led to the
discovery of chromosomes. The combination of
Mendelian Genetics + Chromosomes was the
next big breakthrough. Things to know...

You should already be familiar with the


difference between these processes of cell
division in terms of their outcomes.
Now look more carefully at what happens to the
chromosomes during each process.
ORIGINAL BODY
CELL
with 4
chromosomes
(2 homologous
pairs)

Chromosomes are thread-like structures in the


nucleus of cells. They only become visible (to a
light microscope) during cell division.
Chromosomes have genes along their length.
There may be 1000s of genes on one
chromosome.

a
A

Consider 3 sets of genes.


Genotype is AaBbCc.
(heterozygous for each
characteristic)

Another Homologous pair

Notice that homologous


pairs correspond with each other, but are NOT
identical.

Chromatids
separate

Before cell division, each chromosome is


duplicated.

Each part of a double


chromosome is called a
Chromatid.

Cell Divides
in 2

Homologous
pairs have
separated, and
cell divides in 2.
Now cells divide
again, and
separate the
chromatids.

Homologous pair of
Double chromosomes

Study the diagram.


The original and its exact
copy remain attached to
each other, as a double
chromosome.

Chromosomes
line up in their
homologous
pairs

Chromosomes
line up in a
single line

The chromatids in a
double chromosome are
Indentical Chromatids in
identical... (look at the
each chromosome
genes in the diagram)
but the homologous partners are not
identical... merely corresponding.
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DIPLOID CELLS
2n = 4

2 Daughter cells

Identical to each other and to


the parent cell

18

HAPLOID CELLS
n=2

Haploid means half the


chromosome number.
The chromosomes are not in pairs.

This is how the genes


could be located on some
chromosomes.

Meiosis
In BOTH
processes, the
chromosomes
are first
duplicated, to
form double
chromosomes

Homologous pair

In this case,
2n = 4

Mitosis

Chromosomes occur in pairs. Chromosomes


in a pair are called homologous. Homologous
chromosomes correspond with each other by
carrying allelic genes in corresponding
locations.
Study this diagram to get
the idea.

This cell is DIPLOID


(abbrev. 2n)
(chromosomes in pairs)

4 Gamete cells

NOT identical to each other,


nor to parent cell

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Chromosomes & Mendels Genes

The Structure of DNA

In 1902, two scientists independently noticed a


similarity between the way that chromosomes
behaved in meiosis, compared to how Mendels
genes were inherited.

Like many biological molecules, DNA is a


polymer, made of many smaller units which are
joined in long chains. The basic unit of DNA is a
Nucleotide. (named for nucleus)

Walter Sutton (USA) and Theodor Boveri


(Germany) had both been studying meiosis
using new staining techniques which made
chromosomes more visible. Both were aware of
Mendels discoveries, which had been rediscovered just 2 years before.
Chromosomes
During Meiosis

Mendels
Genes

Begin in homologous
pairs

Two genes for each


characteristic

Pairs separate
in meiosis

The 2 genes separate


in gamete formation

Gametes have only 1


of each chromosome
pair (haploid)

Gametes have only 1


of each gene pair

At fertilisation, each
gamete supplies one
chromosome, so the
zygote gets back to
having paired chromosomes (Diploid)

At fertilisation, each
gamete supplies one
gene, so the offspring
gets back to having
two genes per
characteristic

A NUCLEOTIDE
Phosphate
group

Base molecule
There are 4 different
bases, so 4 nucleotides
are in DNA

Sugar
(Deoxyribose)

The 4 different bases are usually known just by


the first letter of each name:
A
Adenine
C
Cytosine
G
Guanine
T
Thymine
DNA molecules are composed of 2 strands of
nucleotides (one running upside-down
compared to the other) which are joined by the
bonding between base molecules.
Two Strands of Nucleotide Chains

A
Bases

The obvious similaries made it clear that the genes


must be located on the chromosomes in the cell
nucleus.

Chromosomes Contain DNA

Bases

Chemical analysis reveals that chromosomes


are made of Deoxyribonucleic Acid (DNA for
short) wrapped in proteins.

A-T
T bonded

G
C-G
G bonded

We now know that DNA is a double helix-shaped


molecule which carries a chemical code... it is a
gene.
T

A
Notice that the only
base combinations are
A-T
T and C-G
G

Chromosomes
One Nucleotide

Finally, the entire molecule is corkscrewed into


a double helix, rather like a spiral staircase
or ladder.

Part of a DNA
molecule

Sugars & phosphates


are the side rails

Bases are the


steps of a
ladder

Each
chromosome
contains 1000s of DNA
molecules
(wrapped
in
protein) each one specifying
one of the organisms many
hereditary traits.
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What Determines Sex?


In humans, and in many other species, sex is determined by a special
pair of chromosomes... the sex chromosomes.
In a normal human body cell there are 46
How these chromosomes are passed on to
chromosomes arranged in 23 homologous
children can be shown using the Punnett Square
pairs. Of these, 22 pairs are called autosomes
diagram to track, not genes, but the sex
and are the same size and shape in males as in
chromosomes:
Father
Mother
females.
Xy

The 23rd pair are the sex chromosomes:

Notice that
X&y
females can
only pass on
an X chromosome
in their eggs.

Females have a matching


pair of chromosomesthat are
known as X chromosomes.
A female is described as XX

Males sperm
cells can either
carry an X or a y.

Males have one X


chromosome, and one
smaller y chromosome.

XX

X&X

gametes

XX

XX

Xy

Xy

Girls
Boys

Phenotypes of Offspring

Which type of
Girls : Boys
1:1
sperm fertilises
50% : 50%
the egg
determines the sex of the baby.

Males are described as being


Xy.

Non-Mendelian Inheritance
Gregor Mendel discovered the basics of Genetics, but it was found early in the 20th century
that genes dont always work in that simple Mendelian fashion.
Thomas Morgan began experimenting with
Drosophila fruit flies and quickly found they
were ideal for genetics experiments.

Morgan produced hundreds of flies in the


experiment so, like Mendel, his results were
statistically significant.

In 1910, in an experiment involving flies with


different eye colours, Morgan realised that the
way this characteristic was being inherited
depended on the sex of the fly... males and
females were inheriting eye colour differently.

The Explanation:
The genes for eye colour are carried on the X
chromosome.
The dominant (Red) gene can be designated as
XR. The recessive (White) gene is Xr
The male y chromosome does NOT carry one
of these alleles at all.

Sex-Linkage Inheritance
The common and normal eye colour in the flies
is red. Morgan discovered a male fly with white
eyes. He set out to do a Mendel-type breeding
experiment:
PARENTS

White-e
eyed
Male

The possible female


phenotypes are:

Red-e
eyed
Female

XRXR
XRXr
XrXr

(XX)

genotypes

&

Red eye female (homozygous)


Red eye female (heterozygous)
White eye female

The possible male (Xy) genotypes & phenotypes


are:
XRy
Red eye male
Xry
White eye male

F1 generation
All have red eyes.
Morgan concluded
(correctly)
Red is DOMINANT,
White RECESSIVE

F1 flies were allowed


to mate among
themselves

F2 generation
Females 100%
red eyed.

WHEN DOING PUNNETT SQUARES WITH


SEX-LINKAGE, YOU MUST TRACK THE
X AND y CHROMOSOMES...

Males 50%: 50%

see next page.

Whats going on?


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Note that females get 2 genes, but males only


get one because their y chromosome lacks
this allele totally. A male cannot be
heterozygous for this trait and cannot have a
hidden recessive gene.

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Morganss Sex-Linkage
Experiment (continued...)

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 ).

Here is the experiment explained by Punnett


Square.

Xry

F1

Xr & y

The F1 are all


red-e
eyed.
Note that
females are all
heterozygous.

F2

XRXR

gametes

XR & XR

XR

XR

Xr

XRXr

XRXr

XRy

XRy

XRy
XR & y

The F2 are
red : white
3:1
just like
Mendels
results, but
the sexes are
different.

XRXr
XR & Xr

gametes

XR

Xr

XR

XRXR

XRXr

XRy

Xry

Phenotypes of Offspring
FEMALES
MALES
Red : White
Red : White
100% : 0
50% : 50%

Phenotypes of Offspring (both sexes)


Red:White
100% : 0

There are a number of genes in humans that are sex-linked. The best-known are 2 genetic disorders:
Red-Green Colour Blindness, is where a person cannot distinguish between certain colours.
Haemophilia, is a condition in which the blood does not clot properly, putting the person at constant
risk of internal bleeding. It was always a fatal condition, but in modern times people with
haemophilia are treated with clotting factors from donated blood.
Both conditions are sex-linked, inherited as recessive genes on the X chromosome.
They occur much more often in males than females.

Inheritance by Co-Dominance
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 show a Dominant-Recessive
pattern, but when both genes are present (heterzygous) they are both expressed,
and may result in an in-between phenotype.
Here is what happens in a Mendel-type cross:
Example: In Shorthorn cattle, there is gene (R)
that causes the hair of the animals coat to be
red (actually a rustyPARENTS
X
brown colour). To be red,
the animal must be
RR
WW
homozygous for this gene.
Genotype RR
gametes: R only
W only
The other allelic gene (W) causes
the coat to be white,
if the animal is homozygous.

RW

RW

Genotype WW

RW

F1 100% Roan

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.

gametes: R or W

RW

RR

F2
Phenotypes:

Genotype RW
Note that it is best to use
2 different CAPITAL letters as
symbols in this case, since neither gene is
recessive.
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RW

F1 breed among
themselves

RW

WW

RED : ROAN : WHITE


1 :
2
:
1
25% : 50% : 25%

Try to verify for yourself the F2 result by using a


Punnett Square.
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The Effect of Environment


Its not just an organisms genes that produce its phenotype; the environment has an effect as well.
For example, consider some of Mendels pea
plants with different genes for stem height.

In Hydrangea plants, if cuttings are taken from a


single individual (the cuttings would be
genetically identical) and grown in different
soils, the flowers on each cutting can be
different colours. If the soil is slightly acidic the
flowers will be blue, but in slightly basic soil
theyll be pink.

IN GOOD SOIL
Genotype TT
Phenotype TALL

Genotype tt
Phenotype
DWARF

Now, imagine planting them (as baby seedlings)


in very poor soil, so that normal growth was not
possible.
IN POOR SOIL
Genotype TT

Genotype tt

Phenotype DWARF

Phenotype
DWARF

Identical twins have inherited exactly the same


genes. In the USA about 40 years ago, a famous
study was done on identical twins who had been
adopted into separate families and raised in
different environments. The study found quite
large differences between the twins in intelligence,
personality, and even appearance. Presumably
these differences were due to different foods,
education, etc.

The point is that the genes may control what the


organism COULD grow up to be, but the
environment may influence this, possibly altering
the final appearance (phenotype).

Genetics, Sex and Evolution

Crossing-Over

During his lifetime, Charles Darwin freely


admitted that there were 2 big gaps in his
controversial Theory of Evolution...

During meiosis homologous chromosomes also


swap pieces of chromatid with each other,
further mixing up the possible gene
combinations:
GAMETE FORMATION WITHOUT CROSSING-O
OVER

How are characteristics inherited?


When the fittest survive and breed, how do
they pass on their survival traits to their
offspring?

MEIOSIS
B

The Science of Genetics can now explain that

Possible gene
combinations
in gametes
AB

or ab

Remember, each gamete gets just one of these 4 chromatids

WITH CROSSING-O
OVER

Where does variation come from?


Natural Selection needs differences between
individuals to choose the survivors. Why is
there variation anyway?

Variation comes from MEIOSIS and


Sexual Reproduction

a
b

MEIOSIS

Possible gene
combinations
in gametes
AB

aB

Ab

ab

These chromosomes have exchanged


pieces of chromatid with each other.
This has mixed up the combinations of
genes A, a, B and b.

Variation Caused by Meiosis


The process of meiosis to produce the sperm
and egg cells increases variation, even before
fertilisation occurs.

Variation Caused by
Sexual Reproduction
The simple fact that sexual reproduction
involves TWO parents, creates a lot of variation.
The offspring receives genes from 2 different
individuals, thereby getting a new mix of
traits.

Study the diagram of meiosis on page 18.


Remember that homologous chromosomes are
NOT identical.
Each pair of homologous chromosomes line up
and separate at random, and independently of
all other pairs, so the number of different
possible gametes is very large. In humans, with
23 pairs of chromosomes, it is possible for
meiosis to produce about 8 million different
combinations of chromosomes in the gametes
of each person!
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Summary

Meiosis creates variations in the way


homologous chromosomes separate,
AND in the process of Crossing-Over.
Further variation comes from
combining genes from 2 parents.
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Worksheet 8

Chromosomes & DNA

Fill in the blank spaces.

In 1902, two scientists t)..........................


and .......................... noticed the
similarities between how Mendels
genes worked and how u)........................
behave during v)......................... From
this observation it was clear that
w)...............................................................

Chromosomes
are
thread-like
structures in the a).................... of a cell.
They
are
only
visible
during
b).......................................
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
d)....................................
genes
in
corresponding locations. Before a cell
division,
each
chromosome
is
e)............................ to make a double
chromosome. The 2 parts are called
f)................................ and they are
g)................................. to each other.

Chromosomes have been analysed


chemically and found to contain
x)............................... and .........................
It is known that the DNA molecules
contain a chemical code which is a
y)........................
Thus,
each
chromosome contains many genes,
each one encoded by a molecule of
z)....................
The DNA molecule is a aa)......................
of
repeating
units
called
ab).............................. Each one is made
of 3 smaller parts; ac)....................... and
............................... and .........................

In Mitosis, the chromosomes line up


h)..........................
and
the
i)............................. separate, so that the
daughter cells are j).......................... to
each other, and to the k).......................
cell.

There are 4 different bases, known by


the intial letters of their names; ad)......,
......., ....... and ....... (letters) The DNA
molecule is a double- ae).....................
shape, made of af)............... (number)
strands resembling a twisted ladder. The
rungs of the ladder are formed by 2
bases bonding with each other. The
bases can only bond in combinations
ag).............. and ...............

In Meiosis, the chromosomes line up


l)................................... and the first
division
separates
the
m).................................. pairs. Then the
cells divide again to form n).............
(number)
gametes,
each
with
o)....................... the original number of
chromosomes.

Sexual
reproduction
produces
variations in a population because:

Body cells with pairs of chromosomes


are called p)........................... while
gametes
are
said
to
be
q)............................... Human body cells
have a total of r).................... (number)
chromosomes, while egg or sperm cells
have s)............. (number)

Offspring receive ah)........................


..............................................
ai)................................... of homologous
chromosomes in meiosis.

WHEN COMPLETED,
WORKSHEETS BECOME SECTION SUMMARIES
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Name....................................

the process of aj).................................


...................... in meiosis.
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Worksheet 9

Sex-Linkage & Co-Dominance Problems

1.
Refer to Morgans experiment with fruit flies.p20
a) Why are there 3 genotypes for female flies,
but only 2 for males?

Name...............................

3. Refer to the information about Co-Dominance.


Use Punnett Squares to predict the phenotypes
of calves born if:
a) a roan bull mated with a red cow.

b) From which parent (mother or father) does a


white-eye male fly inherit his white eyes?
Explain.
c) i) What is the genotype of a female,
who is heterozygous?

b) a white bull mated with a roan cow.

ii) What is her phenotype?


iii) Explain why this genotype is often referred
to as a carrier female.
d) Use a Punnett Square to predict the outcome
of each cross below. (You must track the X & y
chromosomes. Offspring phenotypes should
describe the sexes separately)

4.
In a particular breed of chickens, the feather
colour is controlled by 2 alleles B and W.
Genotype BB produces black feathers.
Genotype WW produces white feathers. The
heterozygous genotype BW results in black &
white speckled feathers.

i) Xry crossed with XRXr

ii)

XRy

crossed with

Use a Punnett Square to predict the colours of


chicks from: (show working on back of sheet)

XrXr

a) a speckled rooster and speckled hen.


b) a black hen and a white rooster.
c) a black rooster and a speckled hen.
5.
Some plants have flower colours controlled as
follows: There are only 2 alleles involved, but
there are 3 phenotypes possible... red flowers,
white flowers and pink flowers.
a) Suggest how just 2 genes can result in 3
different colours.

2.
In humans, a recessive gene (Xn) carried on the X
chromosome causes colour-blindness. The
normal vision gene can be symbolized by XN.
Use these symbols to write the genotype of:
a) a homozygous normal-vision female.
b) a normal-vision male.
c) a colour-blind male.
d) a colour-blind female.
e) a carrier female (heterozygous)
f) A man with normal vision married a woman
who is colour blind. Use a Punnett Square to
predict the pattern of inheritance in their
children.

b) Suggest suitable symbols for the alleles.

c) Use these symbols to write the genotype for:


i) red flower
ii) pink flower
iii) white flower
d) Use a Punnett Square to predict the
phenotypes resulting from crossing a redflowering plant with a white-flowering plant and
breeding through to the F2 in a Mendel-type
experiment. (show working on back of sheet)

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Worksheet 10
Test Questions
Multiple Choice

section 3

Name....................................

Longer Response Questions


Answer on reverse, if insufficient space.

1.
A pair of homologous chromosomes:
A. are identical to each other.
B. carry totally different genes
C. will line up as a pair during mitosis.
D. carry alleles in corresponding locations.

7. (6 marks)
a)
Sketch
one
pair
of
homologous
chromosomes, just before a cell was to undergo
a cell division.
If the organism is heterozygous for allelic genes
Q and q, show on your diagram the
positions of all copies of these genes.

2.
Meiosis produces:
A. 4 haploid gamete cells.
B. 2 diploid body cells.
C. 4 identical gametes.
D. 4 non-identical body cells.

b) Draw simple sketches to show:


i) how these 2 chromosomes would line up for
mitosis.
ii) the chromosomes in ONE of the cells
resulting from mitosis.

3.
A nucleotide contains:
A. sugar, phosphate and 1 of 4 possible bases.
B. a base, phosphate, & 1 of 4 possible sugars.
C. amino acids in a polypeptide chain.
D. base pairs A-T and C-G.

iii) how these 2 chromosomes would line up for


meiosis.
iv) the chromosomes in ONE of the cells
resulting from meiosis.

4.
In human sperm cells you would expect to find:
A. 46 chromosomes including an Xy pair.
B. 46 chromosomes including either an X or a y.
C. 23 chromosomes, including an X.
D. 23 chromosomes, including either an X or a y.

8. (5 marks)
In Drosophila fruit flies, the normal eye colour is
red. A recessive, sex-linked gene causes white
eyes.
Using symbols XR, Xr and y, predict the
phenotypes (separately for each sex) of the
cross between a white-eye male and a
heterozygous red-eye female.
Show your
working.

5.
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.
D. males will pass the recessive gene on
to their sons.

9. (5 marks)
A certain species of African rodent was
described in Multiple Choice Question 6.
Using appropriate (declared) symbols, predict
the outcome of a mating between a grey and
black animal of this species.

6.
In a species of small African rodents it was
noticed that 2 grey coloured animals produced a
litter of babies that were about 25% white, 25%
black and about 50% grey. It seems likely that:

10. (3 marks)
a) Explain, with the help of simple diagrams if
you wish, the process of crossing over with
chromosomes.

A. grey is dominant to both black and white.


B. co-dominant alleles are controlling
coat colour.
C. a mutation occurred to produce new
colours in the babies.
D. grey is a recessive gene, black and white
are co-dominant.

b) Explain how this process contributes to the


genetic diversity of a species.
c) State one other process which increases
genetic diversity in a species.
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4. MOLECULAR GENETICS & MUTATION


How DNA Structure Was Discovered

DNA Replication

By the middle of the 20th century it was


suspected that DNA was probably the genetic
chemical and it was known that it contained
sugar, phosphate and the 4 bases A,C,G and T.
What no-one could understand was, if DNA was
the genes, how could it:

So how does the structure of the DNA molecule


lend itself to replication?
The key is the way the complementary bases
bond together in the double stranded structure.
This means that if you have ONE STRAND of a
DNA molecule it is a mirror-image template for
the other. If you split a DNA molecule into 2
separate strands, each strand can be used to
build a new, complementary strand.

Replicate (duplicate) itself for cell division?


Control the phenotype of an organism?
It seemed likely that the key to this problem was
to find out the structure of the DNA molecule.
The story of what happened is a classic example
of how Science and scientists make progress
using collaboration and communication.

Thats exactly what happens to all the DNA in each


chromosome, before a cell division occurs.
sugar-p
phosphate side rail

In 1953, English scientist Francis Crick had


become an expert at interpreting the shapes of
molecules using the new technique of X-ray
Diffraction.

Bases

The only combinations that will bond are

Meanwhile, at another laboratory, Maurice


Wilkins (New Zealand) managed to prepare a
pure crystal of DNA, and Rosalind Franklin
(England) was able to get an X-Ray Diffraction
image of it, but neither understood how to make
any sense of the pattern it produced.

DNA
REPLICATION

C
A
A T

G C
C G
G C
A T
T A
C G
G C

Sugar & phosphate chains

CG

Spare nucleotides

CG
C

AT

G
A

C
T

Nucleotides
match up with
complementary
base on original
strand.
Enzymes
connect them in
place, forming
a new strand.

G
G

T
AT
GC
CG

T
T
C

G A
T

GC
AT
T A
CG
GC

When
completed,
each new DNA
molecule is
twisted back
into a doublehelix shape.

old strand
New strand

No one of these scientists could have made


progress alone. Each had certain data, or skills
or expertise, but only by bringing it all together
was the great discovery possible. Success
came from different people communicating and
unselfishly sharing their knowledge and talents.
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Original, doublestranded DNA

TA

G T
A

Double-s
stranded Helix

C-G
G

GC

Molecule is untwisted
and unzipped by
enzymes

Then a young American, James Watson, who


was interested in understanding the DNA
mystery, visited the Wilkins-Franklin laboratory.
With their collaboration, he took their data to
Crick for his expert interpretation. Between
them, Watson and Crick made one of the most
notable scientific breakthroughs in the history
of Biology... they figured out the base-pairing,
double-helix structure of DNA and realised
immediately how this structure could lend itself
to replication... an essential feature of a gene.

Pairs of Bases

and

A-T
T

TWO IDENTICAL DNA


MOLECULES

This is how the DNA molecules,


which are the genes on the chromosomes,
are replicated in preparation for cell division.
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DNA and Protein Synthesis

How Can DNA


Control a Phenotype?

The sequence of bases in the DNA molecule is a


code. Each 3 bases are a code word (called a
Codon) which specifies an amino acid to go
into the polypeptide chain.

To answer this question, you need to be


reminded about the structure, and the role, of
proteins.

DNA Strand
Bases

Protein Structure
has been covered briefly in previous topics.
Heres a quick revision:

Codon

PROTEINS are polymers of Amino Acids.


Amino Acid
molecules

a Polypeptide chain may contain


1000s of amino acids

Amino Acids forming a Polypeptide


ENZYME

Protein
with precise
3-D
D shape

If a polypeptide containing 1,000 amino acids is


needed, then a DNA molecule made up of 3,000
nucleotide bases, will be the gene for this polypeptide.

A Polypeptide is NOT a protein until it folds and


twists into a final, 3-D
D shape.
Sometimes, several polypeptides join together
to form the final protein molecule

Only one strand of the double-helix of DNA is the gene.


The other mirror-image strand is present only to
allow the gene to be replicated for cell divisions.
How the DNA base sequence makes 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. There are about 20 different
amino acids, and some of them are attracted to
(or repelled from) each other, so how the chain
twists and folds upon itself depends on exactly
which ones are located where.

Changing Definitions of a Gene


When studying Genetics at the organism level:
gene = the hereditary unit which determines
one trait in the organisms phenotype.
Then, in the 1940s, two American scientists,
George Beadle and Edward Tatum discovered
the connection of genes to proteins. Studying a
genetic defect in a common fungus, they found
that there were 3 different genes that could
produce the same defective phenotype.

Protein Functions
Proteins have many functions within an
organism:
Enzymes are all protein molecules
Structural Molecules, such as in muscle fibres,
skin, hair and bone matrix are proteins.
Many Special Molecules are proteins, such
as haemoglobin, (the oxygen carrier in blood)
chlorophyll (absorbs light for photosynthesis)
antibodies (which help fight disease)
... and many more.

Normal Chemical Pathway in Fungi Cells

Enzyme 1

Enzyme 2

Enzyme 3

P,Q,R and S are cell chemicals. If any reaction is


blocked, then S cannot be made, and the
organism has a chemical defect

In every case, it is the shape of the protein


molecule which is essential to its correct
functioning.

Beadle and Tatum realised that each enzyme 1,2


& 3 must have a separate gene. The phenotype
S-defect could be produced by a defect to the
gene for enzyme 1, or the gene for enzyme 2, or
the gene for enzyme 3. So, the new definition for
a gene became:

Enzymes can only connect to their substrate if


their shape is right. Haemoglobin can only pick
up oxygen if the shape is correct... and so on.

gene = a unit of heredity that specifies a protein


Proteins carry out many vital functions.
Correct functioning depends on the sequence of
amino acids in the polypeptide chain.

But now that we know about DNA, and that


some proteins require more than one
polypeptide chain...

IT IS THE DNA WHICH CONTROLS THE


AMINO ACID SEQUENCE.

A Gene is a DNA molecule


which specifies one polypeptide

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How DNA Causes a Phenotype

Part 1. From DNA to Polypeptide


The next step is called

The initial step is called

TRANSLATION

TRANSCRIPTION

DNA

m-R
RNA

RNA is a polymer of
nucleotides, similar to
DNA, but
single strand only
different sugar
one different
nucleotide

gr
ow
in
g

Each
3-b
base codon
in m-R
RNA
specifies
one amino acid
in the
polypeptide chain

This occurs in the


nucleus

mfro RNA
m
m
the ove
nu s
ou
cle
t to
us
ar
ibo
som
e

P
by oly
ad pep
di ti
tio de
n ch
of a
Am in
in
o

Amino
Acids

Ac
id
s

m-R
RNA
Ribosome
moves along
m-R
RNA

then,
Part 2. From Polypeptide to Phenotype

The polypeptide chain


twists and folds to
form a protein

Perhaps its a
structural protein,
used to build
muscle or skin

Possibly it is combined
with other polypeptides
or special chemical
groups to form...

Substrates

You should recall


that the Ribosomes are
organelles responsible for
protein synthesis in cells

Maybe it becomes a
molecule of
Haemoglobin, used
to carry oxygen in
the blood

a functional
PROTEIN
molecule

It could be an
ENZYME, able to
catalyse a chemical
reaction

Example: Eye Colour

STARTING
CHEMICALS
(Substrates)

t-R
RNAs

Ribosome enzymes
connect the amino
acids to form a
polypeptide chain

One strand of the DNA (the gene)


acts as a template for the
production of a single-s
stranded
messenger RNA (m-R
RNA)

The colour of your eyes is a


genetically determined phenotype.
The coloured pigment is made by
enzymes, which are proteins,
coded in your DNA

Amino Acids are carried


into position by t-R
RNA
(Transfer RNA)
molecules

It could be a Hormone,
which controls some
aspect of Homeostasis

Enzyme

Enzyme catalyses reaction(s)


to produce coloured pigment
in cells of the iris of the eye

Product;
a Coloured
Pigment

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.
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Mutation

DNA Change Makes a New Gene

In all organisms, cells divide all the time.


Theres mitosis to make new cells for growth,
and meiosis to make gametes for sexual
reproduction. Whenever a cell is about to divide,
the chromosomes are replicated and all the DNA
they contain makes an exact copy of itself.

You will see at the bottom of this page that


mutations can have many possible effects,
ranging from absolutely nothing, to a new
inheritable characteristic. How could a new
characteristic happen?
Imagine an accidental change to just 1 base in a
DNA strand.

But sometimes mistakes happen...


Errors can occur in duplicating the DNA.
Chromosomes get broken, then incorrectly
repaired. Entire chromosome can be lost.

Change will occur


here

Original DNA Strand


Bases

Codon

Any accidental change to the genetic material is


a Mutation.

Causes of Mutation

Amino Acids forming a Polypeptide

Some mutations do not have any clear cause...


they are just accidents that happen. However, it
is known that certain factors can increase the
likelihood of mutations. These factors are called
mutagens, and include:

Bases

Codon

Higher Temperatures. Mutation rates are


higher in hotter climates.
Certain Chemicals, for example, some pesticides.
Radiation, including X-rays, nuclear radiation
and ultra-violet radiation from the Sun.

Blue

Medical records from Japan following the


Atom Bomb attack on Hiroshima (1945) indicate
a huge increase in genetic mutations among the
people in the years following.

original
Enzyme

Pigment
in iris

Original
Phenotype
(Blue eyes)

Substrate
Chemical

Countries like Australia, with a sunny climate and


outdoor lifestyle, have high rates of skin cancer.
These cancers are believed to be due (at least in
part) to the mutagenic properties of UV light.

New
Mutated
Enzyme

Colour
Pigment

Effects of Mutation
Mutation during Meiosis
Affects a Gamete

Mutation during Mitosis


Affects a Body Cell

Mutation
might
have no
effect on
cell.

Just one amino acid being different may alter the


way the polypeptide folds into its 3-D shape. This
could alter the shape of an enzyme molecule, so
that instead of producing (say) Blue-Eye
Phenotype, it produces a new colour pigment.

Controlled experiments have demonstrated that


genetic changes can be induced in living things (eg
plant seeds, fungi, fruit flies etc) by exposing them to
doses of X-rays, or nuclear radiations.

Cell might
not be able
to function
properly.
Cell dies.
No effect on
multicellular
organism.

1 Amino Acid will be different


in the polypeptide

Evidence for Mutagenic Nature of Radiation

It depends on what sort of cell


the mutation occurs in.

Changed base

Altered DNA Strand

Mutant
Phenotype
(new colour)

Gamete NOT
involved in
reproduction.
No effect.

Gamete involved in fertilisation


Mutation might
cause malfunction
in cell, which
becomes cancerous.
Organism seriously
affected, but future
generations are not.

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Offspring might get new inheritable gene.


New trait might be:
detrimental; less chance to survive.
an improvement; helps survival.
neither good nor bad, just different.
The mutation becomes a new variation to be
inherited by future generations
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Mutation and Evolution


Mutations occur at random in the DNA
molecules and chromosomes. Most are
detrimental to the cell in which they occur, but
occasionally a mutation produces a new,
inheritable trait in an offspring.

Finally, Darwin & Wallaces Theory of Evolution


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

Usually, new mutant genes are recessive alleles.


Being recessive, they can be inherited through
many generations without ever being visible in
the population. Only when 2 heterozygous
individuals mate and bring together a pair of
recessive genes does the new phenotype
actually appear.

2. In every species there is variation.


New traits originate from genetic mutation.
Traits are mixed in new combinations by
meiosis and sexual reproduction, producing
greater variation.

The new phenotype might be quite a trivial


difference...
slightly bigger ears
slightly shorter toes
a new colour pigment in the fur
a slightly longer intestine ... and so on.

3. Natural Selection chooses the survivors.


4. The Fittest individuals reproduce and
pass on their characteristics as genes (DNA)
inherited by the processes of Genetics.
5. Over generations, a species evolves.

However, it is such small differences that give


the variation to a population for Natural
Selection to work on.

Sexual Reproduction and Meiosis keep mixing the genes in new


combinations, but the original source of variation is MUTATION.

The Rate of Evolution

Evidence for
Punctuated Equilibrium

Darwin always imagined that evolution was a


very slow process, taking at least 100,000
generations over perhaps millions of years, for a
species to change significantly.

Some fossil sequences show the same species


existing, apparently unchanged, for millions of
years, then suddenly disappearing and being
replaced by a different (but similar) species.
Perhaps it rapidly
EVOLUTION by
evolved into the
PUNCTUATED
new species?
EQUILIBRIUM

EVOLUTION by

STABLE AGAIN
NO CHANGE...

An alternative explanation was


proposed in the 1970s. This idea,
called Punctuated Equilibrium
suggests that evolution does not
occur in a slow and steady way,
but in short, sharp bursts of rapid
change, in between long periods
of little or no change at all.

SLOW, STEADY CHANGES OVER A VERY LONG TIME

The fact that the fossils


GRADUALISM
showed significant change from
one rock layer to the next was
simply, in Darwins opinion,
due to the patchiness of the fossil
record, giving us just a glimpse
here and there of the slow and
steady changes going on.

It is suggested that a species


might change significantly
within just a few thousand years
rather than millions.
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Studies on living
populations (eg snails in
grasslands) show that if
the environment
changes suddenly
(e.g. because
of humans
clearing
the land)
the species can
respond with
...THEN A RAPID BURST
a very rapid
OF CHANGES
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...

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Worksheet 11 Molecular Genetics & Mutation


Fill in the blank spaces

Next, the m-RNA moves out of the


ai)..................... to one of the aj)............................
These organelles are the sites of protein
ak)........................ Here the second stage, called
al)...................................., occurs. According to
the code of bases on the m-RNA, amino acids
are placed one-by-one in sequence to build the
am)................................. chain. Another form of
RNA, called an)............... carries each amino
acid into place. The enzymes of the
ao)....................... then catalyse the reaction to
join the amino acids to each other.

The discovery of the structure of DNA shows


how good a)........................ and b)..........................
contribute to scientific progress. Maurice
c).............................. was able to prepare a crystal
of pure DNA, and Rosalind d)...............................
was able to get an X-ray Diffraction image of the
crystal, but neither of them could interpret it.
James e)......................... collaborated with them,
and took their data to Francis f)..........................
who had become an expert in this new
technology. Between them, Watson & Crick
figured out the double-helix shape and the
g)..................-pairing structure of DNA.

To cause a phenotype to occur, the polypeptide


chain must then twist and fold to form a
functioning ap)........................... As an example,
it could become an enzyme, which
aq)........................... a chemical reaction in the
iris of the eye. The reaction might result in the
production of a coloured ar)..................................
which produces the phenotype of eye colour.

The h).....................-stranded structure, and the


complementary base-pairing allows DNA
molecules to be i)........................... in preparation
for a cell j)......................... First, the DNA strands
k)............................ Then each strand can act as a
l)................................... for the making of a new
complementary strand.. Each base specifies
what must go on the new strand, because only
bases m)...... & ......... and bases n)........ & ...........
can go together. Once a new strand is built onto
each old strand, the result is 2
o).............................. DNA molecules.

Any accidental as)................ to a gene or


chromosome is a at)......................... Some do not
have any discernible cause, but there are certain
factors, called au)........................ which increase
the likelihood of a mutation. Higher
av)......................... is one, and certain
aw)........................... are known to be mutagens.
Various forms of radiation are mutagenic,
including ax)......................... and ay)....................
and az) ................................................

Proteins are polymers of p)....................................


A chain of p)........................... is called a
q)..................................... chain. To become a
functioning protein, it must twist and fold into a
precise r)........................... Exactly how the chain
twists and folds depends on the exact
s)................... of the amino acids. There are
about t)........... (number) different amino acids
and they may attract or u)................... each other,
causing the chain to twist and fold upon itself.

Altering just one base on a ba)...................


molecule can create a new gene. One different
base could cause one bb).....................-acid to be
different in the bc)...............................................
chain. This in turn could alter the
bd)................................ of a protein. If this protein
is an be)........................, then the way it catalyses
a reaction could change, resulting in a different
chemical product. For example, this could result
in a different bf)......................... in the iris cells of
the eye, and so a new phenotype for eye colour.

Some different types of proteins include


v)................. which catalyse metabolic reactions,
and w)................... proteins in muscles, skin and
hair cells. In each case, it is the x)........................
of the protein which is vital to its correct
functioning. This shape is due to the sequence
of y)....................... acids, and these are specified
by the base sequence of the z)........................

Mutations are significant for the Theory of


bg)........................... because they explain where
bh)...................... in a population comes from
originally.

In DNA each aa).............. (number) bases form a


code word (called a ab).......................) to specify
one amino acid. The first step in the process is
called ac).............................. and involves the
production of a molecule of ad)................ To do
this, the gene strand of the DNA is used as a
ae)............................ to build the RNA from
nucleotides. Compared to DNA, the RNA is only
af).................-stranded, and has a different
ag)................. in the backbone of the molecule,
and one different ah)..............................

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Name....................................

It has usually been accepted that evolution


occurs with a slow and steady accumulation of
changes. In the 1970s a new idea, called
bi).................................... ......................... was put
forward.
This
suggests
that
species
bj)................................... for long periods of time,
and then undergo bk)....................... .....................
of evolution.

Practice Questions are at the end of


the next section.
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5. REPRODUCTIVE TECHNOLOGIES & GENETIC DIVERSITY


Reproductive Technologies

Cloning

Humans have developed a number of


techniques for controlling or enhancing the
reproduction of crop plants, domesticated
animals, and even ourselves.

A clone is a group of organisms which are all


genetically identical. The simplest form of cloning
is asexual reproduction, which has been done
artificially with plants for thousands of years.

Artificial Pollination

Every time a plant is grown from a cutting, or by


grafting, a clone is being created. Farmers and
gardeners have been doing this for thousands
of years.

This is the oldest and simplest reproductive


technique. Gregor Mendel used this to control
the reproduction of his pea plants, and it had
probably been used for centuries before that.

More recently, the process of Tissue Culture


has allowed plant cloning on a massive scale.
This involves taking thousands of small pieces
of tissue (each perhaps just a few cells) from a
parent plant and culturing them in a nutrient
liquid in a test tube in the laboratory. Eventually
they grow large enough to be planted out into
soil to grow to be adult plants. This allows a
clone of many thousands to be grown from just
one parent plant.

Very simply, it involves taking pollen from one


(selected) plant and dusting it onto the flower of
the other (selected) parent. This gives complete
control over which plants become the parents of
the next generation.
In modern agriculture, almost all of our cereals,
fruits and vegetables are now the result of
artificial pollination. New types are created
by artificial pollination using different varieties
or even different species. Such cross-breeds
are called Hybrids. For example, the
nectarine is a hybrid of peach and a plum.

Cloning of animals is much more difficult and


the first mammal clone was not achieved until
the 1990s with the famous Dolly the sheep.

Once commercially important varieties are


created, huge numbers of seeds are produced,
again by artificial pollination of selected parent
plants. This results in millions of almost
identical plants being grown in crop
monocultures.

HOW TO CLONE A MAMMAL

Commercially it has many advantages, such as


great consistency in growth rates and food
quality. Later, we will discuss possible
disadvantages.

Body Cell

Artificial Insemination (A.I.)


Semen can be collected from a champion bull,
divided up into many small samples and frozen.
Distributed anywhere in the world, it can be
used to fertilise a cow.

Diploid Nucleus
Extracted

Unfertilised
Egg

Nucleus
removed

Diploid Nucleus from


body cell placed into Egg
Cell

Thus a top-quality bull can become the father of


many thousands of calves, thereby improving
the quality of cattle herds all over the world.
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. (Discussed later)

Surrogate
Mother

Humans use A.I. for their own reproduction too.


If a man is sterile, but he and his wife wish to
have children, she can be inseminated with
semen from an anonymous donor. There are
sperm banks of frozen semen for this use.
No-one has seriously suggested using this to
improve the human race... this would be an
ethical & moral issue.
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EGG DONOR

PARENT of CLONE

Fertilized egg
placed in uterus

Normal pregnancy
and birth

The baby lamb is genetically identical to


the single parent at top left.
It is an identical twin, except younger

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Reproductive Technologies
& Genetic Diversity

Too much of the same?

Artificial Pollination, A.I. and cloning all have the


potential to diminish the Genetic Diversity of the
species involved. All these processes, if used on
a large scale, result in many offspring being
produced from just a few, or even just one,
parent. This means that all these offspring are
closely related to each other and have less
genetic diversity.

Our food crops and animals have been bred


selectively for high productivity. This has also
resulted in low genetic variation.
Is this a disaster waiting to happen?

Already, many of our food crops, such as wheat


and rice, are monocultures of millions of
individual plants who are siblings from
relatively few parents. In a banana plantation,
the entire population may be a clone of
genetically identical plants grown from cuttings
and suckers (asexual runners) from a single
parent.
Among farm animals such as beef cattle, the
widespread use of A.I. to improve herds has also
lessened the genetic diversity of those herds.
There are many benefits to this, but there may
be serious consequences too. Remember that
genetic diversity (variation) is essential for the
long-term survival and evolution of a species. If
a species has little variation, then any change in
the environment (eg a new disease, climate
change) might adversely affect ALL the
population, and leave no survivors.

Transgenic Species
As well as reproductive technologies, humans
are altering the gene pools of species in
another way...

Genetic Engineering technology is able to

The Irish Potato Famine

transfer one or more genes from one species to


another to form Transgenic Species.
Some examples:

In Ireland in the 19th century, thousands of poor


families lived by subsistence farming on rented
fields barely large enough to grow food for a family.

Gene Transfer

Purpose / Benefits

They relied totally on potatoes, the only crop


which grew well in the climate and produced
enough food to live on.

Human gene for


Insulin hormone
inserted into bacteria

Almost every field was planted with the same


variety of high-yield potato. The plants were grown
from seed-potatoes saved from the best plants
of the previous years crop. This was asexual
reproduction, so there was little genetic variety,
and everyone was growing the same crop!

Human genes for bloodSheep can be milked and blood


clotting factors inserted
factors extracted to treat
into sheep, which produce patients suffering Haemophilia.
blood factors in their
milk.
Strawberry plants have Allows strawberries to be
received a gene from a grown in colder areas not
fish, which allows them previously possible.
to resist freezing better.

In 1847, a fungal disease struck. Its spores


spread on the breeze and it destroyed a crop
field within days of infection. This Potato
Blight totally destroyed the crops for 3
successive years until different, resistant
varieties were slowly introduced.

Crop plants have received


a gene from the
Pyrethrum plant which
causes the crops to
produce a natural
insecticide chemical.

By then, an estimated 1 million people had


starved to death. Millions more fled Ireland,
settling in USA, Canada and Australia.
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Bacteria produce insulin (to


treat diabetic patients)
in great quantity.

33

Crops do not need to be


sprayed with insecticides to
control insect pests...
any insect which eats the crop
will die.

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How Genes are Transferred


The exact mechanism of transfer of genes for
Genetic Engineering depends on the species.
Firstly, the gene to be transferred from the
source species needs to be isolated. This is
often achieved by collecting DNA from cells of
this species and chopping it into fragments
using restriction enzymes from bacteria.
These enzymes have the ability to cut DNA into
sections. It often takes a lot of trial-and-error to
then locate a fragment of the chopped-up DNA
containing the desired gene.

Human Insulin
Type I Diabetes is a killer disease in which a
persons pancreas stops making the hormone
insulin. Without insulin their cells cannot absorb
glucose and they lapse into a coma and die.
Early treatments relied on extracting insulin from
animals at an abbatoir, but there were many
side-effects and supplies were uncertain.

Recombinant DNA Technology


now supplies pure human insulin.

The desired fragment can then be incorporated


into the DNA of the target species by several
possible methods.
In some cases the DNA fragment can be injected
into an egg of the target species. The DNA
becomes incorporated into a chromosome and is
an inherited gene from that point on.

Circular bacterial DNA


extracted from a
bacterial cell

Human DNA,
extracted from a
human cell

chemically
chopped-u
up
into fragments

chemically
cut open

Mixed
together

Some viruses quite naturally transfer pieces of


DNA from one cell to another. These can be
enlisted as vectors to carry DNA to the target
cells. The DNA fragment is inserted into a
harmless virus. Then when the virus is allowed
to infect a target cell, the DNA fragment
becomes incorporated into its chromosomes.

Some human DNA


fragments recombine with
the bacterial DNA.

DNA re-iinserted into


bacterial cells.

In the case of transferring human genes into


bacteria, the same restriction enzyme is used
to chop-up both the human DNA, and the
bacterial Plasmid... a bacterial chromosome.
Since both were cut by the same enzyme, the
fragments match-up, and can readily join
together when mixed in the presence of suitable
enzymes. This technique has been in use for
about 40 years, notably to produce pure human
insulin for treating diabetics.

If the recombinant DNA


contains the gene for
insulin, the growing
bacteria will make
human insulin .
These cells can be
isolated and grown in
huge numbers.
They produce human
insulin which can be
collected for the
treatment of diabetes.

Ethical Issues Concerning Genetic Engineering


transferring genes, especially human genes,
into other species is unnatural, and wrong
religiously and morally.

Reproductive technologies, such as Genetic


Engineering and Transgenic Species cause
some scientific concerns about loss of genetic
diversity. However, the main concerns tend to
be ethical issues raised by society.

foods from transgenic species may have


unforseen consequences for human health,
such as inceases in cancer. No-one has the right
to expose us all to unknown risks.

You need to be aware of the issues and prepared


to form your own, informed opinion... there is no
single correct answer.

under current law, the companies who develop


transgenic species own patents on them, and
are making huge profits by forcing farmers to
use their products or sell-out.

Weigh up the benefits (some were listed on


previous page) against the concerns some
people raise...

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This is seen as unethical, putting profit before


people.
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Worksheet 12 Test Questions


Multiple Choice

section 4 & 5

Name....................................

Longer Response Questions


Answer on reverse, if insufficient space.

1.
Which of the following is NOT a source of
increased genetic diversity in a species?

6. (6 marks)
Use a simple flow chart diagram to outline the
process by which DNA controls the production
of a polypeptide.

A. Mutation in a gamete before fertilisation.


B. Crossing-over process during mitosis.
C. Independent segregation of homologous
pairs in meiosis.
D. Combining gametes from different parents
at fertilisation.
2.
DNA replication is possible because:
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.

7. (5 marks)
a) What is a mutagen?

b) Describe 2 pieces of evidence that radiation is


mutagenic.

3.
The factor least likely to be mutagenic is:
A. nuclear radiation.
B. herbicide chemicals like agent orange.
C. ultra-violet light.
D. low temperatures.

c) Describe using a simple flow chart, how a


change in a DNA sequence could result in a
change in cell activity.

4.
The base sequence on a part of a DNA chain is
...ATTCGAGGCTAC...
Which of the following statements is correct?

8. (4 marks)
Compare and contrast the idea of Gradualism
in Evolution, with the theory of Punctuated
Equilibrium.

A. This section could code for 4 amino acids.


B. The complementary strand would read
TAACGACCGTAC.
C. This section contains 6 codons.
D. The corresponding m-RNA section would be
ATTCGAGGCTAC.
5.
When genes are transferred from one species to
another:
A. this reduces the genetic diversity of
the species.
B. this is a mutation.
C. this produces a transgenic species.
D. the result would be a clone of the original.

9. (5 marks)
a) Outline the process that can be used to make
a clone of a mammal.
b) Explain the effect that cloning could have on
the genetic diversity of the cloned species.
10. (5 marks)
a) Give an example of the use of a transgenic
species, stating:
i) precisely which species are involved,
and
ii) the benefit or purpose achieved.
b) State an ethical concern that some people
might have with the use of this transgenic
species.

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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.
Practise on this blank version.

THE
BLUEPRINT
OF LIFE

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9.
a) An example is the Pentadactyl Limb
structure in vertebrate animals. The bone
structures in the fore-limb of a whale, bat, dog,
human, lizard, etc. are all essentially the same,
even though each looks very different on the
outside, and each is used for very different
purposes... swimming, flying, walking, etc.
b) This is evidence of descent from a common
ancestor which had that bone structure.

Answer Section
Worksheet 1
a) Palaeontology
b) fossils
c) less
d) more
e) less
f) more
g) present-day organisms
h) millions (billions)
i) relative
j) correlating
k) Radiometric
l) transitional
m) Archaeopteryx
n) dinosaur
o) bird
p) how living things are distributed
q) very similar
r) very different
s) common ancestor
t) bone structure
u) for different purposes v) Pentadactyl limb
w) DNA
x) enzymes
y) common ancestry
z) species can be changed

10.
Sequencing the DNA of different species allows
their degree of relatedness to be determined
very precisely, since closely related species
have very similar DNA.
This has revealed some surprises that have
changed the thinking on evolutionary
relationships. For example, it has previously
been thought that lizards and crocodiles (both
classified as reptiles) are more closely related to
each other than to birds. DNA analysis reveals
that birds are more closely related to crocodiles
than either is to the lizards.

Worksheet 2
a) Charles Darwin & Alfred Wallace
b) more offspring than can possibly survive
c) variation (genetic diversity)
d) Natural Selection
e) best suited
f) reproduce / breed
g) Survival of the Fittest h) evolves / changes
i) predators, food, supply
j) who are best suited
k) reproduce
l) survive
m) reproduce
n) Pepper
o) industrial
p) black to light moths
q) DDT
r) selection
s) resistant
t) extinct
u) Partitioning
v) using slightly different
resources
w) evolves into several / more than one
x) isolated
y) selection
z) Convergent
aa) resemble
ab) similar / same
ac) characteristics / adaptations
ad) dolphin
ae) features / adaptations
af) closely related

11.
(Best in 5 numbered points)
1. All species produce more offspring than can
survive.
2. There is variation within each species... not all
the same.
3. Natural Selection: the factors of the
environment choose which individuals survive.
4. Survival of the Fittest: those best suited to
the environment survive and reproduce.
5. The survival characteristics get passed on
to offspring so each generation is slightly
different than before. Over many generations
the species changes... it evolves.
12.
Divergent evolution is when one ancestral species
evolves into 2 or more different species. An
example is the finches of the Galapagos islands,
where a different species of finch has evolved on
each separate island, all from a single ancestral
species.
Convergent evolution is when different species
evolve to resemble each other, even though they
are not closely related. An example is the shark &
dolphin which are both streamlined, fastswimming look-alikes, but are not related in an
evolutionary sense.

Worksheet 3
1. C
2. B
3. A
4. B
5. D
6. C
7.D
8.
Relative Dating is done by correlating fossils
from one place with those elsewhere. It allows
scientists to put things in order, from oldest to
youngest, but the actual ages cannot be
determined.
Absolute Dating involves measuring the
radiation from naturally occurring radioisotopes. These decay at known rates, so the
amount of radiation remaining in a rock or fossil
allows the actual age in years to be determined.

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Worksheet 6

Worksheet 4
a) Mendel
c) inherited
e) pure-breeding
g) F1
i) self
k) 3:1
m) alleles
o) 2
q) heterozygous
s) fertilization
u) recessive
w) homozygous
y) actual genes present.
aa) pure-breeding
ac) statistically
ae) German

a) Recessive. Couple 7 & 8 have straight fingers,


but had a child (11) with curved little fingers. This
can only happen if both parents are carrying a
hidden gene... therefore it must be recessive.

b) pea
d) pure
f) dwarf
h) tall
j) 2nd generation
l) genes
n) allelic
p) the same
r) gametes
t) parent
v) dominant
x) phenotype
z) simple, easily identified
ab) large
ad) a recognised scientist

b) S = Straight, s = curved.
c) 1=ss, 2=SS, 3=ss, 4=SS, 5=Ss, 6=Ss, 7=Ss,
8=Ss, 9=Ss, 10=SS or Ss(uncertain), 11=ss
d) No chance of curved-finger children, because
all children must receive a S gene from
mother who is SS.
e) Ss x ss would give 50% curved, 50% straight.
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 offspring
there should be approximately 50-50)

Worksheet 5
1. a) i) green
b) i) GG
c)
i)

ii) yellow
ii) Gg

iii) green
iii) gg

Gg

Gg

G&g

Worksheet 7

G&g

gametes

GG

Gg

Gg

gg

1. B
2. A
3. C
4.
a) Dominant gene will always be expressed.
Recessive gene can only be expressed when no
other allele is present (i.e. if homozygous for the
recessive gene)
b) Homozygous means having 2 copies of the
same allele for a particular trait. eg, AA, or bb.
Heterozygous means to have 2 different alleles
for the trait. eg, Aa

Phenotypes of Offspring
Green : Yellow
3:1
75% : 25%

c) Genotype is the description (usually in


symbols) of the actual 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.

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
bb
x
B&b

5.
a) Mendels experiments were successful
because:
he chose to study simple traits that occurred in
just 2 alternative forms, such as Tall v. Dwarf.
he began with pure-breeding parent plants.
he bred large numbers of offspring so the
results could be interpreted statistically.

b&b

gametes

Bb

Bb

bb

bb

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, so were not read by many
people (and those that did, didnt realize the
significance).

Phenotypes of Offspring
Black : Albino
50% : 50%

ii)Not surprising.
In such small samples, random chance can give
results not exactly in the expected ratio.

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Worksheet 7

Worksheet 8 (cont)
z) DNA
aa) polymer
ab) nucleotides
ac) sugar, phosphate & base
ad) A,C,G & T
ae) helix
af) 2
ag) A-T and C-G
ah) genes from 2 different parents
ai) Independent Segregation
aj) Crossing-over

(cont)

6.
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 so all
offspring will have green pods.
b)
Gg

gg

G&g

g&g

gametes

Gg

Gg

gg

gg

Worksheet 9
1. a) Males cannot be heterozygous because
they only have one X chromosome. The y
chromosome doesnt carry an allele.
b) From his mother, who gives him his X
chromosome. Father gives y, which doesnt
carry an allele.

Phenotypes of Offspring
Green pod : Yellow pod
1:1
50% : 50%

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.

7. a)Shaded shapes are red-heads


Fred

Generations

Xr & y

II

Xry

d) i)

Mary

III
8

XR

Xr

Xr

XRXr

XrXr

XRy

Xry

ii) Females 100% Red-eyed.


Males 100% white eyed.
2. a) XNXN
d) XnXn

Worksheet 8

HSC Biology Topic 2 Blueprint of Life


copyright 2005-2
2009 keep it simple science
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XR & Xr

gametes

Phenotypes of Offspring
FEMALES
MALES
Red:White
Red : White
50% : 50%
50% : 50%

b) Red-headedness must be recessive, because


Fred & Mary are not red-heads, but had redheaded children. They must both carry a
recessive gene.
c) Must both be red-heads, since their parents
are. Since its recessive, both 6 & 7 must be
homozygous for red-hair and must pass on
genes to children 8 & 9, who also must be
homozygous.
a) nucleus
b) cell division
c) homologous
d) allelic
e) replicated / duplicated
f) chromatids
g) identical
h) in single file
i) chromatids
j) identical
k) parent
l) in pairs
m) homologous
n) 4
o) half
p) diploid
q) haploid
r) 46
s) 23
t) Sutton & Boveri
u) chromosomes
v) meiosis
w) the genes must be located on
chromosomes
x) DNA and protein
y) gene

XRXr

b) XNy
e) XNXn

c) Xny

XNy

f)

XN & y

XnXn
Xn & Xn

gametes

Xn

Xn

XN

XNXn

XNXn

Xny

Xny

Phenotypes of Offspring
FEMALES
MALES
100% normal
100% colour blind
vision

the

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Worksheet 9

Worksheet 10

(cont)
RW

3.
a)

RR

R&W

1. D

RR

RR

RW

RW

3. A

4. D

5. C

6. B

Homologous pair of
Double chromosomes

7. a)

R&R

gametes

2. A

b)
i) in a single line

Phenotypes of Offspring
Red : Roan
1:1
50% : 50%

ii)

b) WW x RW.
Phenotypes of offspring
50%White, 50% Roan.
BW

4.
a)

BW

B&W

iii) in pairs

iv)

B&W

gametes

BB

BW

BW

WW

Xry

8.

Xr & y

Phenotypes of Offspring
Black : Speckled : White
1 :
2
: 1
25% : 50%
: 25%

XRXr
XR & Xr

gametes

XR

Xr

b) BB x WW gives 100% Speckled offspring.

Xr

XRXr

XrXr

c) BB x BW gives 50% Black and 50% Speckled.

XRy

Xry

5. a) If the 2 alleles are Codominant, then there


can be 3 phenotypes.

Phenotypes of Offspring
FEMALES
MALES
Red : White
Red : White
50% : 50%
50% : 50%

b) Best to use 2 different CAPITALS, R & W.


c) i) RR
d)
Parents:
Gametes:

ii) RW

RR x WW
R only
W only

F1:

GREY

BLACK

BW

BB

100% RW (Pink)

RW

F2

9.
Gene symbols: B= Black, W=White

iii) WW

R&W

B&W

RW
R&W

gametes

B&B

gametes

BB

BB

RR

RW

BW

BW

RW

WW

Phenotypes of Offspring
Black : Grey
1 : 1
50% : 50%

Phenotypes of Offspring
Red : Pink : White
1
1
: 2 :
25% : 50% : 25%

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Worksheet 10

Worksheet 12

(cont)
10.
a) Crossing-over is when
homologous chromosomes
exchange corresponding
parts of a chromatid with
each other.

1. B
6.

2. C
DNA

3. D

4. A

5. C

TRANSCRIPTION

m-R
RNA
Moves to a
Ribosome

b) This mixes up the combinations of genes on


each chromatid, and results in more variety of
gene combinations in gametes, and in
offspring.

TRANSLATION

Polypeptide

c) Mutation / Independent Segregation of


homologous chromosomes in meiosis /
Receiving genes from 2 different parents
during sexual reproduction.

m-R
RNA controls
sequence of
amino acids
joined together

7. a) Mutagen = something that CAUSES a


mutation.
b) 1. Controlled experiments have
demonstrated that mutations are caused in
plant seeds, insects, etc which are exposed to
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)

Worksheet 11
a) communication
b) collaboration
c) Wilkins
d) Franklin
e) Watson
f) Crick
g) base
h) double
i) replicated
j) division
k) unzip / untwist
l) template
m) A & T
n) C & G
o) identical
p) amino acids
q) polypeptide
r) 3-D shape
s) sequence
t) 20
u) repel
v) enzymes
w) structural
x) shape
y) amino
z) DNA
aa) 3
ab) codon
ac) Transcription
ad) m-RNA
ae) template
af) single
ag) sugar
ah) base
ai) nucleus
aj) mitochondria
ak) synthesis
al) Translation
am) polypeptide
an) t-RNA
ao) mitochondria
ap) protein
aq) catalyses
ar) pigment
as) change
at) mutation
au) mutagens
av) temperature
aw) chemicals
ax) X-rays
ay) nuclear radiation az) Ultra-violet U.V.
ba) DNA
bb) amino
bc) polypeptide
bd) shape
be) enzyme
bf) pigment
bg) Evolution
bh) variation / genetic diversity
bi) Punctuated Equilibrium
bj) remain unchanged
bk) rapid bursts

Altered
DNA

Change in
cells activity

Altered
m-R
RNA

Altered
Polypeptide

Altered
Enzyme

causes different
chemical
product to form

8.
Similarity: both are models describing
evolution of a species.
Difference:Gradualism = evolution occurring
slowly and steadily over relatively long time
periods. Punctuated Equilibrium = species
remains unchanged for long periods, then
evolves in a rapid burst.
9.
a) Body cell taken from parent, and nucleus
extracted. Egg cell obtained and nucleus
replaced with nucleus from parent cell.
Egg cell implanted in uterus of surrogate
mother, where normal pregnancy and birth
occur. Baby is clone of parent individual.
b) If used on a large scale, cloning would
reduce genetic diversity because less parents
are involved and more offspring would be
identical.

10. 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 of eating
transgenic foods. (In this particular case, vegetarians might also see it as
unethical that the strawberries contain an animal gene.)
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