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Outcome Stimulus questions

Biological science 1 Why do some people have more features in common with their
grandparents than with their parents?
6.5 2 Can a blue-eyed man and a blue-eyed woman produce a
Describe the genetic basis brown-eyed child?
of inheritance. 3 Why are there approximately the same number of boys and girls born?
4 Why are more men than women colour blind?
5 What is genetically modified food?
6 Could the extinct Tasmanian tiger be brought back to life?
Unit 4.1 Inheritance
Have you ever been told that you have your The father ofn
fathers nose, your mothers eyes or perhaps geneticsn
your grandfathers ears? We all resemble our Our story of genetics begins in a monastery in Austria in
parents, and grandparents, in many ways, but 1856. Here a monk, Gregor Mendel, taught science
each one of us is unique. Two influences and in his spare time carried out experiments to study
how characteristics are inherited. He was not the first to
make you what you are at this moment: try this, but he was the most successful, and so is known
heredity and environment. Heredity is those as the father of genetics.
characteristics you inherited from your Mendel grew garden peas and studied easily
recognisable characteristics such as seed shape and type
parents. Environment is all the factors
of pod. Each characteristic occurred in two specific forms,
which have acted on you throughout your called traits. For example, seeds were round or wrinkled,
life. Where do hereditary influences end pods were green or yellow. Mendel cross-pollinated
true-breeding plants with contrasting traits. True-
and environmental influences begin?
breeding plants were those that consistently produced
Genetics, the study of heredity, attempts to offspring the same as the parents for a particular trait. TR
provide some answers to this question. For example, he took the pollen from a plant with home

Parental cross F1 generation F2 generation Probability


5474 round
1850 wrinkled
round wrinkled round

6022 yellow
2001 green
yellow green yellow

882 smooth
229 constricted
smooth constricted smooth

428 green
152 yellow
green yellow green

787 long
277 short
long short long
stem stem stem

Fig 4.1.1 Gregor Mendelthe father of Fig 4.1.2 Results of Mendels cross-breeding experiments.

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round seeds and placed it on the flower of a plant Sc ie n ce
with wrinkled seeds. He found that all the offspring snip pe t chromosome
(called the F1 generation) were like one of the nucleus
parents. When these offspring were cross-pollinated Bees or
among themselves, their offspring (the F2 peas?
generation), showed both traits. Some of Mendels Before starting work with DNA
results are shown in the Fig 4.1.2. his peas, Mendel tried to
Mendel studied 28 000 pea plants, consistently breed a hard-working but
easily managed honey bee.
obtaining similar results. He called the trait which He tried crossing an
appeared in the F1 generation the dominant trait. industrious German bee
with a gentle Italian bee.
The other trait which was masked and reappeared The result was a bee genes
in the F2 generation he called the recessive trait. which was neither hard
Based on his observations, Mendel concluded that working nor gentle! He
moved his attention to
pea plants possess two hereditary factors for each peas, which were much
Fig 4.1.3 Chromosomes are made of protein
characteristic. These factors separate from each other easier to handle.
and DNA. Each chromosome has
and pass into gametes. Gametes are the reproductive many genes along its length.
cells, called ova in females and sperm in males.
Gametes combine to form the first cell of a new Genes are located on structures called chromosomes.
organism. Each new organism therefore receives one These are found in the nucleus of your body cells.
hereditary factor from each parent. The factors do not Chromosomes are long, coiled thread-like structures,
blend with each other, but act as independent units. made of DNA and protein. Each chromosome has many TR
Mendel published his work in 1866, but it was poorly thousands of genes along its length. Each species of home
understood and largely ignored by the scientific world.
It was not until 1900 that his work was rediscovered
and its importance appreciated. Three scientists
(H. De Vries in Holland, C. Correns in Germany
and E. van Tschermak-Seysenegg in Austria) working
independently reached the same conclusions Mendel
had 34 years earlier.

Genes andn
We now call Mendels factors genes. A gene is a
hereditary unit which controls a particular characteristic.
Many thousands of genes are located in each of the cells
of your body. Together, your genes can be thought of as
a genetic program, a set of instructions which determine
your eye colour, body size, skin type and many of the
other characteristics that make you what you are. Each
gene is made of a chemical called deoxyribonucleic
Fig 4.1.4 Human chromosomes treated with stain, then arranged and
acid or DNA for short. numbered.

97 Chapter 4 Genetics
organism has a fixed number of chromosomes in its cell testes. Each gamete contains only one of each type of
nuclei. The fruit fly has eight, dogs twenty-eight and chromosome. When gametes join, the resulting cell
humans forty-six. Notice that the numbers are all even will have the correct number of chromosomes. During
numbers. Chromosomes exist in pairs in each body cell meiosis, two divisions take place. Chromosomes are
(four pairs in the fruit fly, fourteen in dogs and twenty- duplicated, as for mitosis. In the first division, the
three in humans). The members of each pair are individual chromosomes of each homologous pair
similar in size and shape, and are called a homologous separate to form two cells, each containing only one
pair. One member of the pair was inherited from the copy of each kind of chromosome. In the
father, the other from the mother. Most cells in your second division, the duplicated chromosomes
body therefore contain two of each type of separate to produce a total of four daughter
chromosome. They are referred to as diploid cells. cells. The major steps in meiosis are shown Prac 2
p. 104
Gametes contain only one of each type of in Fig 4.1.6.
chromosome. They are known as haploid cells. When a cell with only two pairs of chromosomes
The chromosomes in your cells now are a copy of undergoes meiosis, four different gamete types are
those present in the single cell from which you grew. possible. Fig 4.1.7 shows these four types of
How does this copying process take place? When cells gametes. These types occur due to the random way
such as those in your skin grow, they duplicate their in which the homologous chromosomes separate
chromosomes. When each cell divides, the two daughter during the first division of meiosis. For three pairs of
cells which result each receive a copy of the parent cell chromosomes, eight gamete types are possible. This
chromosomes. This type of cell division is in turn means that there are sixty-four possible
called mitosis. Mitosis is an organised series combinations when two gametes join. Humans have TR
of steps which ensures that each daughter twenty-three pairs of chromosomes. The number of home
cell is a copy of the parent cell. The major steps Prac 1 possible combinations of chromosomes in offspring
p. 103
in mitosis are shown in Fig 4.1.5. of the same two parents is seventy million million.
A different type of cell division, called meiosis, occurs It is therefore extremely unlikely that there will ever be
in the gamete-producing cells found in the ovaries and another you.

a skin cell

two skin cells

Two pairs of Chromosomes are Chromosomes line Chromosomes separate

chromosomes doubled but attached up along the equator and move to the ends
are visible. at a point called of the cell. of the cell. Membranes form
the centromere. to produce two
daughter cells.

Fig 4.1.5 Mitosiscell division to produce new cells identical to the parent cell.

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an ovary cell


Two pairs of Chromosomes Homologous One of each

chromosomes are doubled but chromosomes pair of Chromosomes Chromosomes
are visible. attached at a line up along chromosomes line up along separate and
point called the the equator moves to the the equator move to the Membranes form
centromere. of the cell. ends of the cell. of each cell. ends of each to produce four
cell. daughter cells.

Fig 4.1.6 Meiosiscell division to produce gametes with half the chromosome number of the parent cell.

mothers cell fathers cell

diploid cells
with two
pairs of
chromosomes TR
Cells in Cells in the
Cell Four types of ovary divide testes divide
divides daughter cells by meiosis. by meiosis.
by are possible
meiosis. haploid cells
due to the with two
random way in chromosomes
which pairs egg cell
(ovum) sperm cell
during meiosis.
Gametes join.
homologous pair
of chromosomes
one inherited
from each parent
first cell of new organism

Fig 4.1.7 During meiosis, homologous chromosomes separate randomly to Fig 4.1.8 Meiosis and gamete fusion allow each new organism to inherit
produce different types of gametes. chromosomes from each of its parents.

Meiosis, and the subsequent joining of gametes,

allows the passing of chromosomes from two parents
Simple inheritancen
to an offspring. In this way you have acquired Consider Mendels pea plants. The gene which
chromosomes, and therefore genes, from both your controls pod colour comes in two forms, one coding
parents. But you do not simply have half your fathers for green pods, the other for yellow pods. These
characteristics and half your mothers characteristics. To alternative forms of the same gene are called alleles.
help understand what makes you what you are, we need We will represent the allele for green pods as G, and the
to look more closely at genes and how they interact. allele for non-green (yellow) pods as g. Each pea plant

99 Chapter 4 Genetics
contains two genes for pod colour, one received These combinations of genes are known as the
from the mother, the other from the father. The genotype of the plant.
possible combinations of alleles are GG, Gg and gg. What do plants with these genotypes look like?
Mendel observed that green pods were dominant. This
means that whenever a G is present in the genotype, the
First cross plant will have green pods. That is, both GG and Gg
will produce green pods. gg will produce yellow pods.
homozygous homozygous
green pods (GG) yellow pods (gg)
The g allele is a recessive gene. The appearance
produced by a genotype is called the phenotype of the
G G g g
parent cells organism. An organism with a genotype having only one
type of allele (e.g. GG or gg) is called homozygous for
that characteristic. An organism with different
Meiosis g g
G G alleles (e.g. Gg) is called heterozygous for that
gametes. characteristic. Given these definitions we can
explain Mendels observations in terms of Prac 3
p. 104
G g genes. Fig 4.1.9 shows the inheritance of pod
produces a
zygote. colour in Mendels pea plants.
A much simpler way to represent the inheritance
shown in Fig 4.1.9 is to use a Punnett square. This is
F1 generation
shown in Fig 4.1.10 for the inheritance of pod colour in
Gg Gg Gg Gg Mendels peas. TR
(all heterozygous green pods) Punnett squares can be used to illustrate inheritance, home
and to predict the results of crossing different organisms.
Second cross
In rats, the gene which codes for coat colour occurs as
two alleles. The gene for black coat (B) is dominant
heterozygous heterozygous
green pods (Gg) green pods (Gg)
parents 1 and 2
G g G g
parent cells
P1 First cross
P2 G G
Squares show possible zygotes
Meiosis g Gg Gg formed by union of gametes
G g G g during fertilisation
gametes. (all heterozygous green pods).
g Gg Gg
Fertilisation possible gametes
produces a G G G g g G g g
from parent 2
zygote (four (homozygous yellow pods)
P1 Second cross
P2 G g
GG, gG, Gggreen pods
F2 generation Probability of 3/4 (75%)
GG Gg gG gg ggyellow pods
g Gg gg Probability of 1/4 (25%)
(homozygous (heterozygous (homozygous
green pods) green pods) yellow pods)

Fig 4.1.10 Punnett squares to show inheritance of pod colour in Mendels

Fig 4.1.9 Inheritance of pod colour in Mendels peas.

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over the gene for brown coat (b). Using a Punnett
square we can predict coat colours of offspring.
Consider the cross of two heterozygous black rats (Bb):
75% of offspring will be black (either BB or Bb), 25%
will be brown (bb). These results show the typical 3:1 pure red pure white
(75%:25%) ratio seen in Mendels experiments. (RR) (WW)

heterozygous black

Fig 4.1.12 Phenotypes and genotypes in shorthorn cattle. Inheritance of

Bb coat colour in shorthorn cattle is an example of codominance.
heterozygous black P1
P2 B b

b Bb bb white (WW)
red (RR) P1
P2 W W
Fig 4.1.11 Punnett square to show inheritance of coat colour in rats from
a cross of two heterozygous black rats.
WS 4.1 R RW RW roan (RW) TR
Other types ofn home
inheritancen P2
Some characteristics are inherited in this simple way, heterozygous
roan (RW) R RR WR
with the one gene controlling the characteristic
occurring as dominant and recessive alleles. In other
cases the effects of the two genes may blend to show a
Fig 4.1.13 Punnett squares to show inheritance of colour in shorthorn
kind of codominance. In these cases the phenotype of cattle.
the heterozygous organism is a combination of the
phenotypes of the homozygous organisms. Consider the R produces red flowers and allele W produces white
case of shorthorn cattle. Three genotypes and three flowers. The genotype RW produces pink flowers. This
phenotypes occur, as shown in Fig 4.1.12. blending of colours is sometimes called incomplete
Using Punnett squares we can predict the results of dominance, but many geneticists consider it to be
crosses between these three types of cattle. Crossing two another case of codominance.
homozygous cattle, a red one and a white one, will The study of inheritance would be relatively
produce all heterozygous, roan offspring. Crossing two simple if the one gene for one characteristic model
roan cattle will produce heterozygous roan offspring considered so far worked for all characteristics.
(50%), homozygous red offspring (25%) and However, rarely do single genes control a characteristic.
homozygous white offspring (25%). Many characteristics are controlled by several pairs
In other cases, the heterozygous organism may have of genes, producing considerable variation in the
a phenotype intermediate between the phenotypes of characteristic. Examples include your height and skin
the two homozygous organisms. In snapdragons, allele colour.

101 Chapter 4 Genetics

14 Match each term to a relevant description.
U n i t 4.1 Questions Terms Descriptions
Alleles The physical appearance of an organism for a particular
1 What two influences make you what you are? Give an characteristic
example of each of these influences. Phenotype An organism with different genes for a particular
2 a List three ways in which you resemble your mother. characteristic
b List three ways in which you resemble your father. Genotype Alternative forms of the same gene
c Do you have any characteristics like those of your
Homozygous The genes for a particular characteristic present in an
grandparents and not like your parents?
3 a What is genetics?
Heterozygous An organism with the same genes for a particular
b Why is Mendel known as the father of genetics?
4 What is meant by a true-breeding plant?
5 a What is a gene?
b What do the letters DNA stand for? 15 The eye colour of a fruit fly is determined by a single
c What is the relationship between genes and DNA? gene which has dominant and recessive alleles. The
6 a What is a chromosome? allele for red eyes (R) is dominant over the allele for
b What is the relationship between genes and white eyes (r). The questions which follow refer to the
chromosomes? cross of two fruit flies as shown in the Punnett square.
7 How many chromosomes are contained in a human:
a body cell?
b sperm cell?
8 With the aid of an example, explain the difference
R r
P2 home
between diploid and haploid cells.
r Rr rr
9 a What is mitosis and where does it occur?
b What is meiosis and where does it occur?
r rR rr
10 Draw a table to compare mitosis and meiosis. Your table
should include comparisons of the number and type of
daughter cells produced, and the type of cells where
each process occurs. Fig 4.1.14 Punnett square to show inheritance
11 How many different types of gametes could be of eye colour in fruit fly
produced by an individual with the genotype XxYyZz? a
What colour eyes does parent 1 have?
(Possible gametes include XyZ, xyZ, etc.) b
What colour eyes does parent 2 have?
12 Which of the options c
Which parent is homozygous for eye colour?
V to Z, shown in the V gg
What percentage of offspring would be expected to
list, represents: W green pea pods have white eyes?
a a dominant allele? X G e What percentage of offspring would be expected to
b a recessive allele? Y Gg be heterozygous for eye colour?
c the genotype of a Z g 16 In cats, short hair (H) is dominant over long hair (h).
heterozygous Two cats heterozygous for hair length are crossed. Use
organism? a Punnett square to help answer these questions.
d the genotype of a a What is the genotype of the heterozygous cat?
homozygous organism? b What are the possible genotypes of the offspring?
e a phenotype? c What are the possible phenotypes of the offspring?
13 How can two organisms have the same phenotype but d What percentage of offspring would be expected to
different genotypes? have each of the phenotypes listed in c?

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17 In hogs, the gene which produces a white belt around 2 Genes which are together on the same chromosome
the animal (W) is dominant over the gene for uniform are said to be linked. Crossing-over is the exchange
colour (w). A hog heterozygous for colour is crossed of segments of chromosomes between two homologous
with a hog homozygous for uniform colour. Use a chromosomes during meiosis. Investigate how
Punnett square to help answer these questions. linkage and crossing-over affect genetic variation
a What are the possible genotypes of the offspring? in offspring.
b What percentage of offspring would be expected to 3 Different species have different numbers of
have each of the genotypes listed in a? chromosomes. Cross-breeding between species is
c What percentage of offspring would be expected to unusual, but it does occur. For example, a mule is
have a uniform colour? the result of crossing a horse and a donkey. Find
18 Assume the genotypes of Mendels pure-breeding long- out about mules, and other such unusual hybrid
and short-stem plants are LL and ll respectively. Long organisms.
stem is dominant over short stem. Using a Punnett 4 Investigate an example of a characteristic that is
square, predict the ratio of long- and short-stem offspring controlled by two or more genes. Possible examples
in the F2 generation. Does your prediction agree with include the inheritance of combs in poultry, and the
Mendels observations shown in Fig 4.1.2? inheritance of purple colour in sweet pea flowers.
19 In Andalusian fowls, black plumage (B) is codominant
with white plumage (W). Heterozygous fowls have blue
a State the genotypes of black, white and blue U n i t 4.1 Practical
Andalusian fowls.
b What are the chances of each phenotype occurring
in the offspring when two blue fowls are crossed?
c A poultry farmer wishes to establish a true-breeding
Unit 4.1 Prac 1
strain of blue Andalusian fowl. Explain why this is
Observing mitosis
not possible.
20 Label each of the following as examples of either You will need
complete dominance or codominance. Microscope, prepared microscope slide showing onion
a In snapdragons, red flowers crossed with white root tips
flowers produce pink flowers.
What to do
b In fruit flies, when red-eyed males are crossed with
1 Set up the microscope ready for viewing the slide.
white-eyed females, all the offspring are red-eyed.
2 Observe the slide under low power. Near the central
c When a green watermelon is crossed with a striped
part of the root is a section with cells in various stages
watermelon, half the offspring are green, the other
of cell division. Focus on cells in this region.
half striped.
3 Move to high power. Refocus if necessary.
4 Draw five cells in different stages of cell division.

U n i t 4.1 Research / Questions

Extension 1 Place the five cells you have drawn in the order in which
they would occur during mitosis.
2 How can you be sure that the cells are undergoing
mitosis and not meiosis?
1 Research the contribution of each of the following
scientists to our understanding of genetics. Write short
statements about the contribution of each:
T. H. Morgan, H. de Vries, W. L. Johannsen, W. S. Sutton

103 Chapter 4 Genetics

Unit 4.1 Prac 2 Unit 4.1 Prac 3
Modelling meiosis Modelling inheritance
You will need You will need
6 pieces of pipe cleaner to represent 6 chromosomes: 1 short, 60 counters or beads or buttons (30 each of two different
1 medium and 1 long piece of pipe cleaner of colour I; 1 colours), 2 paper bags
short, 1 medium and 1 long piece of pipe cleaner of colour
What to do
II (colour I represents chromosomes from your mother, colour
1 Place fifteen counters of each colour in each bag.
II from your father); large sheet of paper for sketching cells
2 Draw up a table for recording results, using two letters
to represent the colours of the counters, e.g. R for red,
G for green.
colour I 3 Take one counter from each bag (without looking in
(from your the bags).
mother) RG RR GG
colour II
(from your

4 The counter from one bag represents the gene from a

Fig 4.1.15 Modelling meiosis.
sperm, the counter from the other bag the gene from an
What to do egg cell. Record the genotype of the offspring resulting
1 Draw a circle to represent a parent cell. Place the pipe from your first selection of counters by placing a tick in TR
cleaners in the cell to represent three pairs of the appropriate column of the results table. home
homologous chromosomes. Sketch this cell in your book. 5 Replace the counters and shake the bags.
2 Draw two smaller circles to represent daughter cells. 6 Repeat the selection process until twenty results have
Move the pipe cleaners into these two cells to represent been obtained.
two gametes formed when the parent cell divides by 7 Record the totals for each genotype.
meiosis. The gametes should each contain three pipe 8 Continue until 100 results have been obtained
cleaners, one of each length. (or combine results from several groups).
3 Sketch the gametes in your book. Questions
4 Repeat steps 2 and 3 until you have drawn all possible 1 The modelling used represents a cross between two
gametes. heterozygous individuals. What does heterozygous
Questions mean?
1 How many possible gametes can be produced from a 2 What pattern for the three genotypes would you expect
cell with three pairs of chromosomes? to see?
2 During meiosis, there is a random assortment of 3 Was the expected pattern observed after twenty
chromosomes. Explain what the term random selections?
assortment means. 4 Was the expected pattern observed after 100
3 Meiosis is described as a reduction division. What is selections?
meant by this? 5 How would the sixty counters need to be arranged in
4 Describe one feature of meiosis which was not shown in bags to represent each of the following crosses?
this modelling exercise. a Homozygous x homozygous
b Homozygous x heterozygous

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Unit 4.2 Human inheritance
Our examples of inheritance so far have
involved peas, rats, cows and flowers.
Sc ie n ce
snip pe t
What of human inheritance? Does it
follow the same patterns? An often
fatal problem
Albinos appear in almost
Simple humann every plant and animal
species. In plants it is
inheritancen lethal because without
the pigment chlorophyll
In humans, some characteristics are under the control the plant cannot make
of a single gene. Some of these characteristics are food. In animals it is often
fairly trivial ones, such as the ability to roll your tongue. fatal because the animal
is an obvious target for
Others are severe abnormalities such as albinism. predators. Fig 4.2.2 Albinism is a genetic disorder
Albinism is the inability to make the pigment caused by a single recessive gene.
melanin which normally colours the skin. An albino
has white hair and pink eyes. The gene controlling this The inheritance of your blood groupings provides
occurs in two forms. Normal colour (A) is dominant, examples of both dominant and codominant genes. Do TR
lack of colour (a) is recessive. Suppose two people who you know your blood group? While there are several home
are heterozygous for albinism produce offspring. What types of blood groupings, you will probably know only
are the chances that the offspring will be albino? Using your ABO and your Rh groupings. The Rh system is
the Punnett square method, the chances are 1 in 4 controlled by two alleles, one dominant over the other.
(25%). Other characteristics inherited in a similar way A person may be homozygous or heterozygous Rh
include Huntingtons disease and night blindness. positive, or homozygous Rh negative.
The ABO system involves three different alleles,
identified as IA, IB and IO. IA and IB are codominant. IO
is recessive to both IA and IB. Possible genotypes and
phenotypes are shown in the table below.

Genotypes and phenotypes for the ABO blood grouping

heterozygous male (Aa) Phenotype A A AB B B O
P1 (blood group)
P2 A a

A AA aA Using this information we can determine the

possible blood groups of a child, given the blood groups
heterozygous female (Aa) a Aa aa
of the parents. Alternatively, if the blood groups of
mother and child are known, the possible blood groups
Fig 4.2.1 Punnett square to show inheritance of albinism. of the father may be determined. Consider the case of a

105 Chapter 4 Genetics

child, blood group O, with mother, blood group A. The range of eye colours seen contrasts with the
What are the possible blood groups of the father? The earlier examples where the characteristics were clearly
childs genotype must be IO IO, the mothers, IA IA or IA defined. For example, the pea pods were either green or
IO. The father must therefore have provided an IO gene. yellow, the person albino or not. You have many
This means that his genotype must be either IO IO characteristics which are not so sharply defined.
(blood group O) or IA IO (A) or IB IO (B). We can only say Geneticists refer to such sharply defined characteristics
for sure that the father does not have blood group AB. as showing discontinuous variation. The opposite is the
continuous variation shown by a characteristic such as
height. People are not simply tall or short, but show a
Other types of humann wide range of heights. Is a characteristic with such
inheritancen continuous variation inherited? Tall parents seem to
produce tall children. Height would appear to be partly
While some of your characteristics were inherited in a
inherited, but probably under the influence of several
relatively simple way, the vast majority were not. Lets
genes. Environmental factors must also play a part. For
consider your eye colour to see how inheritance
example, an undernourished child may not grow as tall
becomes more complex. In white-skinned people, eye
as genetically expected. In a similar way, intelligence
colour is to some extent determined by a single gene.
seems to be partly inherited under the influence of several
Brown eyes (allele B) are dominant over blue eyes
genes. Environmental influences also affect
(allele b). Genotypes BB and Bb therefore produce
intelligence. There is a long and ongoing debate
brown eyes. Blue-eyed people are homozygous, bb. But
about how much of intelligence is inherited
what of other colours such as green, grey, hazel and
black? Green and grey are genetically considered to be
(nature) and how much develops (nurture).
Prac 1
p. 110 TR
forms of blue. Hazel and black are forms of brown. It home
seems that while the primary colour is determined by
Sci ence snippe t
one pair of alleles, other genes may modify the effects. Nature or nurture?
This modification may be an alteration of the tone,
Identical twins have the same genotype. Do they always have the same
amount or distribution of the pigment in the eyes which phenotype? Several studies of identical twins raised together and
produces either blue or brown eyes. separately have been conducted. The IQ scores of identical twins
correlate more closely than those of non-identical twins, even when
they are raised apart. In one case, identical twins raised separately
both developed schizophrenia within 2 months of their 16th birthday.
How much is inherited, and how much is environmental?

Fig 4.2.4 Identical twins have the same genotype. Do they have the
Fig 4.2.3 Eye colour is inherited, with brown eyes dominant over blue eyes. same phenotype?

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Studying humann
How can we know about human inheritance since we
clearly cannot conduct the kinds of breeding experiments II
Mendel did with his peas? Studies of identical twins give 1 2 3 4 5

us some information, but much of what we know comes

from the study of pedigrees of families, especially those III

with abnormal characteristics. A pedigree involves

pictorially building up a family tree and marking on it IV
those individuals who show a particular disease or 1 2 3
characteristic. A little detective work follows to try to find
Fig 4.2.6 Pedigree showing the inheritance of night blindness.
patterns and establish the likely genetic links. The symbols
used when drawing pedigrees are shown in Fig 4.2.5.
Now consider the pedigree in Fig 4.2.7. How can we
know whether the characteristic shown is dominant or
male recessive? Look at generation II. An unaffected male
female partners an unaffected female (1), to produce
male with the an affected child. This indicates that the characteristic
characteristic is caused by a recessive gene and that the generation II
deceased female
parents are heterozygous. Prac 2
WS 4.2 p. 110

identical twin boys


non-identical twin girls

generation I mating of a female II

and a male 1 2 3

offspring shown in birth

generation II III
order from left to right
1 2 3

Fig 4.2.5 Symbols used when drawing pedigrees. Fig 4.2.7 Pedigree showing the inheritance of a disease.

Consider the pedigree shown in Fig 4.2.6 which shows

the inheritance of night blindness in humans. What can Sex-linked inheritancen
we conclude from this pedigree? In generation III, the Fig 4.2.8 shows a pedigree for the disease haemophilia,
parents who partnered both had night blindness, but they sometimes called the bleeders disease. People with this
had a daughter (2) who was not affected. This suggests disease have a defective gene and as a result lack a
that night blindness is a dominant gene. If it was recessive particular blood-clotting chemical. Without this
the parents would have to be homozygous to show the chemical, even a simple wound can cause severe
disease, and all their children would also show night
blindness. The generation III parents must have been
bleeding. Untreated, the disease is almost always fatal.
Notice in the pedigree that all those affected by the
heterozygous, and by chance produced a normal daughter. disease are male. To understand why, we first need to

107 Chapter 4 Genetics

Sperm may
contain an
All ova contain an X or a Y
II X chromosome. chromosome.
1 2 3
Y-bearing X X Y MALE
III Y Zygote has genotype XY.
1 2

Fig 4.2.8 Pedigree showing the inheritance of haemophilia.

X-bearing X X X FEMALE
understand what makes one person male, and X Zygote has genotype XX.
another female.
Look back at Fig 4.1.4, showing the chromosomes Fig 4.2.9 Sex determination in humans.

of a human. For twenty-two of the chromosome pairs,

the members of the pair are the same size and shape. For their father. Since they are not haemophiliacs they must
pair number twenty-three there is a distinct difference. have the genotype XH Xh. In generation II, male 1 must
These are known as the X and Y chromosomes. The X have inherited an Xh gene from his mother, and a Y
chromosome carries many genes, the Y chromosome from his father. The female in generation I must
carries few. In humans and other mammals, maleness is therefore have the genotype XH Xh. Females like this TR
largely determined by the presence of a Y chromosome. who have a hidden gene for the disease are called home
A male has the genotype XY, a female XX. All ova carriers of the disease.
contain an X chromosome from the mother. It is the
type of sperm (X or Y) from the father which therefore Sc ie n ce snip pe ts
determines the sex of the offspring.
Given that the Y chromosome carries very few genes, Boys and girls
Y- carrying sperm, there
any genes on the X chromosome will produce an obvious Since there are an equal number of X- and
of girls and boys born. However, in most
effect in males because they will have only one gene for should be an equal number
boys than girls born. Why is
parts of the world there are slightly more
each characteristic. Recessive genes will not be masked. not clear, but it may be that the sperm carry
ing the Y chromosome
more likel y to reach the ovum first,
More than 50 diseases caused by defective genes on the are lighter, and therefore they are
the balance of male s and females in the
X chromosome have been identified. They are called to produce a male. However,
ality rate for boy babies
population is later restored, since the mort
sex-linked or X-linked diseases. These diseases include and men is slightly higher than for girl babie
s and women.
colour blindness, some forms of haemophilia and one A royal disease
form of muscular dystrophy. These diseases are more
d in European royalty in
common in males than females. For example, 8% of The gene for haemophilia was so widesprea
gene first appeared in the
the 1800s that history was affected. The
males are colour blind compared with only 1% of females. Victo ria in 1819. Among her
gametes which joined to form Queen
son and two daughters who had
Consider again the pedigree for haemophilia shown children were a haemophiliac
These carri er daug hters introduced the gene into
in Fig 4.2.8. Haemophilia is an X-linked disease. haemophiliac sons.
The illness of one of the
the Russian and Spanish royal families.
Using X for a normal gene on an X chromosome of even ts that contributed to the
Russian heirs, Alexis, set off a chain
h na, moth er of Alex is, thought Rasputin
and X for a recessive gene for haemophilia on an X Russian revolution. The Tsari
iss haemophilia. Because
chromosome, the genotypes can be worked out. All had magical powers which could cure Alex
Russias foreign and
of this, she allowed Rasputin to influence
affected males have the genotype X Y. In generation II, the revol ution.
domestic policies, leading in part to
the females 2 and 3 must have an Xh gene inherited from

SCI4 108
U n i t 4.2 Questions I

1 a If two albino people partner and produce a child, 1 2 3 4
what are the chances the child will be albino?
b If an albino person partners a person heterozygous III
for albinism, what are the chances of their children 1 2
being albino?
2 An albino female and a non-albino male have two IV
children. One is non-albino, one is albino. Using the 1 2 3

letters A for the dominant gene and a for the recessive

Fig 4.2.10 Pedigree for tongue-rolling ability.
gene, give the genotypes of each of the children.
3 Listed below are several characteristics: 7 The ability to roll the tongue is a dominant characteristic. Two
height, ability to roll the tongue, skin colour, blood group people who cannot roll their tongue have four children. How
a From the list, give two examples of characteristics many of these children would be likely to be able to roll their
which show discontinuous variation within a tongue?
population. 8 Draw a pedigree from the following information.
b From the list, give two examples of characteristics Jim and Jean are partners. They have four children, Scott,
which show continuous variation within a population. James, Natasha and Alan. James has a partner, Kylie. They
4 Cystic fibrosis is a disease carried by a single recessive have two children, Susan and Alison. Susan has a partner,
gene. Two unaffected parents have a child who suffers
from the disease. What are the chances that they will
Paul. They have three children, Anne, Emma and Colin.
James, Natasha, Susan and Anne are all albino. home TR
produce a child without the disease?
9 A man with blood group B and a woman with blood group A
5 Match each pedigree symbol to its meaning. produce a child. What are the possible blood groups of the
child? Show how you obtained your answer.
Symbols Meaning 10 A child has blood group AB. The mother has blood group A.
A Mating of a male and female a What are the possible blood group genotypes of the
B Male with the inherited characteristic b What are the possible blood groups of the father?
11 Explain why approximately half the human population is
C Identical twin boys 12 A genetic abnormality occurs where a person has the
genotype XXY. Would the person be male or female?
D Female without the inherited characteristic Explain.
13 Colour blindness is an X-linked recessive disorder. The
E Deceased male symbols used to show the relevant genes are Xn for the
recessive gene on the X chromosome and XN for the normal
gene on the X chromosome.
a State the genotypes of a non-colour-blind female, a
6 Some people can roll their tongue into a U-shape. colour-blind female, a non-colour-blind male and a
Tongue rolling is controlled by a dominant gene (R) and colour-blind male.
a recessive gene (r). A pedigree for tongue rolling is b If a colour-blind female partners a non-colour-blind male,
shown in Fig 4.2.10. What are the genotypes of each what are the chances of: i their daughters being colour
of these individuals? blind? ii their sons being colour blind?
a I male (generation I male) b II 1 c III 1 14 Haemophilia is an X-linked recessive disease. A heterozygous
female does not show the disease. Her genotype is XHXh.

109 Chapter 4 Genetics

a What is the genotype of
Person Height (cm) Height of Height of
i a haemophiliac male? mother (cm) father (cm)
ii a non-haemophiliac male?
b If the heterozygous female partners a non- 1
haemophiliac male, what are the chances that their
sons will be haemophiliacs? 3 On the same axes, plot graphs showing the heights of
15 a What is meant by the term a carrier of the disease the twenty-five people surveyed, and the heights of their
haemophilia? parents.
b Can a male be a carrier of haemophilia?
1 Based on your results, does there appear to be any link
between height and parental heights? Explain.

U n i t 4.2 Research / 2 Height shows a continuous variation in a population.

What does this mean? Do your results show this?
Unit 4.2 Prac 2
1 Research a human genetic disease such as cystic fibrosis
or muscular dystrophy. Contact the relevant society for
Construct a pedigree
information, and prepare a pamphlet explaining the What to do
cause, occurrence and treatment of the disease. 1 Figure 4.2.11 shows several pairs of human
2 Examine the pedigree of a champion horse or show characteristics which are inherited. Select one of these
dog. Consider the factors which were important when
matings were chosen at each stage of the pedigree.
pairs. Survey as many members of your family as
possible (brothers, sisters, parents, grandparents, uncles,
3 Investigate the genetics of human blood groups, and the aunts, etc.) to determine which characteristic of the
problems raised by blood transfusions. chosen pair they
4 Research the studies which have been conducted have. Widows
concerning twins. Prepare a summary of the major 2 Construct a peak
findings of these studies. pedigree for not?
the chosen
for your family.
U n i t 4.2 Practical Question Can roll
activities Discuss whether
or not?
your pedigree gives
any information
Unit 4.2 Prac 1 Which
about how the thumb is
Variation within a population characteristic is on the
inherited. For
You will need
example, does it
25 people to survey (e.g. the students in your class), graph
appear to be a
simple dominant/
What to do recessive
1 Draw a table for your results. characteristic?
2 Survey twenty-five people of about the same age. For
each person, record their height (in cm), and the heights
Length of second toe?
of their parents.
Fig 4.2.11 Inherited features.

SCI4 110
Unit 4.3 The molecular
basis of inheritance
We have seen a little of how the genes on which form cross-bridges, like the ladder rungs. There
are four nitrogenous molecules, called nitrogen bases.
chromosomes interact to produce certain These are usually simply represented by the letters A, T,
inherited characteristics. How does it all C and G, which stand for adenine, thymine, cytosine
work on a molecular level? Genes are made and guanine. Because of their chemical structure, each
base can pair only with one other. They are said to
of DNA. How does the DNA actually lead complement each other. A pairs with T, C with G. If
to the appearance of a characteristic such as one strand of DNA has a base sequence of ATTCGTC,
the opposite strand would have the complementary
eye colour? sequence, TAAGCAG. It is the sequence of these bases
along the length of the DNA strands which is the basis
The structure of DNAn of heredity.
The DNA molecule is a double helix. This means it is
When a cell is undergoing mitosis, the DNA is
copied exactly in a process called replication. The
a long molecule with two strands twisted together. This home
strands are first unzipped. An exact copy is then made
may be likened to a twisted ladder. The uprights of the
by matching each base with its complementary
ladder are the DNA strands. Each strand is a chain of
base. Once a section is copied, one old and
alternating sugar and phosphate units. These strands
one new strand are zipped together to produce
are linked by pairs of molecules containing nitrogen
the duplicate DNA. Prac 1
p. 115

sugarphosphate chain A T


base pair
A T original 2 new



phosphate unit

sugar unit C G

Fig 4.3.1 DNA structurethe lower part is shown untwisted to illustrate Fig 4.3.2 Replication of DNA.
the pairing of bases.

111 Chapter 4 Genetics

Most of the proteins made are enzymes which direct the
Using the genetic coden chemical activities of the cell, and therefore affect the
A gene consists of a segment of DNA with a sequence of nature of the cell. We will consider one example to
up to 1000 bases. The essential difference between one show the events involved. Tyrosine is a colourless amino
gene and another is the base sequence. This sequence acid. In the presence of an enzyme called tyrosinase, it
forms a code which instructs the cell how to make large is converted to melanin, a dark-coloured pigment. If the
molecules called proteins. Proteins are long molecules gene for the production of tyrosinase is missing or
made up of small units called amino acids, joined defective, the enzyme is not made, so tyrosine is not
together like beads on a string. There are twenty different converted to melanin. Without melanin there is no
amino acids which join together in various combinations pigment, and albinism results. The normal functioning
to create thousands of different proteins. It is these proteins of organisms is the result of hundreds of chemical
which determine characteristics such as eye colour. reactions catalysed by hundreds of enzymes. In this way,
Much work has been done to unlock the genetic many characteristics are influenced by many genes.
code. The code must somehow describe the type and
sequence of amino acids used to make each protein.
The code consists of sets of three bases, called codons. A gene codes for
Each set of three bases codes for a particular amino production of the
acid. For example, the bases sequence CGG codes for section enzyme tyrosinase.
of DNA
the amino acid alanine, TTT for lysine, CAA for valine,
and so on. Most of the sixty-four different codons code Tyrosinase
for the twenty different amino acids. A small number
code for stop and start type instructions. The order of
a reaction.
the codons on a length of DNA spells out the order of
the amino acids on a length of protein. The code
appears to be universal. The same codon almost always tyrosinea melanina
colourless dark-coloured
specifies the same amino acid in all organisms. amino acid pigment
The genetic code contained in the base sequence of
Fig 4.3.4 From genes to characteristics. If a gene defect occurs,
DNA directs the types of proteins made by the cells. How tyrosinase is not produced.Therefore melanin is not produced,
then do these proteins determine your characteristics? resulting in albinism.

Amino acids make up a protein.

S c ie n ce
protein snip p e t
Finding our relatives
alanine lysine valine The universal nature of the
code strongly supports the
idea that all
living things are related to
each other,
and have evolved from com
ancestors. Comparisons of
C G G T T T C A A DNA are used
to provide evidence of the
of different species. The gen
DNA strand etic make-
3 bases form a codon up of a chimpanzee is 98.5
% identical to
that of a human.
Fig 4.3.3 Using the genetic codeeach codon on a DNA strand codes for an amino acid. Amino acids are
joined together to form a protein strand.

SCI4 112
was substituted for anotherwould it matter? Such
Gene expressionn accidents do occur, although they are minimised by the
Each cell contains the same type and quantity of DNA action of corrective enzymes whose task it is to look for,
with the same code. Why then do different cell types and correct, copying mistakes.
occur? Why do some cells produce pigments and A mutation is any spontaneous change in a gene or
others, such as nerve cells, do not? As well as coding for chromosome that may produce an alteration in the
a protein, a gene also seems to contain information characteristic for which it codes. Mutations that occur
about where and when the gene is to act. As the body in non-sex cells may affect the organism, as occurs in
develops, certain genes are switched on or off. For some forms of cancer. However, these mutations will
example, in animals the gene for haemoglobin not be inherited. Only those mutations occurring in
production is switched off in nervous tissue. This gametes, or the cell which forms when they join, will be
switching may be done by chemicals within the cell, inherited. The rate of gene mutation is low, but as each
but the exact mechanism is not fully understood. individual has a large number of genes, mutations
Gene expression refers to the appearance in the constantly occur within a species. The rate is increased
organism of the characteristic which the gene codes for. by exposure to mutagens (mutation-causing agents).
Environmental influences play a part in gene expression. These include X-rays, gamma rays, ultraviolet light and
One example is pigment formation in Himalayan rabbits. a range of chemicals such as benzene.
These rabbits are normally white with black ears, nose, Mutations may involve only one gene. A section of
feet and tail. They inherit a gene for an enzyme involved DNA may be incorrectly copied. The disease sickle cell
in pigment formation. This enzyme is temperature anaemia results from such a single gene mutation. As a
sensitive. In cold conditions the pigment is produced
more actively, leading to the black colour seen on the
result of the altered gene, the protein making up the
haemoglobin in red blood cells of people with this
cold extremities of the rabbits. Thus the gene expresses disease has one altered amino acid. This results in
itself only at low temperatures. If the extremities are distorted haemoglobin, and red blood cells shaped like a
warmed, no black hair grows. If a coat section is sickle. These distorted cells may form clumps and clog
removed and an ice pack added, the regrowth is black. small arteries. Victims of the disease usually die young.

What happens if there is an accident in the copying of
the DNA strands during replication? Suppose one base

Normally only the If fur is removed and If extremities are warmed
feet, ears, tail and an icepack applied, during development, no
nose are black. the regrowth is black. black develops. Fig 4.3.6 Normal disc-shaped red blood cells and
distorted red blood cells that result from
Fig 4.3.5 In Himalayan rabbits, growth of black hair is controlled by a gene.The gene is expressed only a single gene mutation.
at low temperatures.

113 Chapter 4 Genetics

People heterozygous for the sickle cell disease show has an extra chromosome number twenty-one. The
mild symptoms. The disease is common in parts of disease results in mental and physical deformities, facial
Africa, with 20% of the black population carrying the abnormalities, low IQ and, often, heart defects.
gene. This high incidence is related to the fact that Would you expect mutations to cause harm or be of
those heterozygous for sickle cell are more resistant to benefit? Generally a random change to a delicate and
malaria which is common in parts of Africa. It seems intricate process like replication would be more likely to
that the altered red blood cells are not very suitable for cause damage than improvement. Most mutations are
the parasite that causes malaria to live in. harmful. However, sometimes a mutation may prove
Mutations may involve whole chromosomes. Parts beneficial, if conditions for the organism show a radical
of chromosomes may break off and rejoin, or whole change. Mutations are responsible for some of the genetic
chromosomes may be lost or added. Sometimes during variation in populations. Breeders of various species make
meiosis, a pair of homologous chromosomes fail to use of this to develop new and improved varieties of
separate. The gamete then has an extra chromosome. organisms, including dogs, cats, horses and sheep.
The cell resulting from gamete fusion will have three
chromosomes instead of a pair. Many such changes
result in spontaneous abortion long before birth. Others
are usually fatal in early infancy. One which is not always
fatal is Tri-21 (Downs syndrome), where the individual


Fig 4.3.8 A Downs syndrome child.

Sc ie n ce snip pe t
Developing resistance
A mutation which produces drug resistanc
e in
bacteria may occur in one in every 1 000
000 000 cell
divisions. This seems to be of little conc
ern until we
realise that a colony of only ten bacteria
every 20 minutes may carry out this num
ber of
divisions in around 45 hours. If the colon
y is treated
with a drug such as penicillin, almost all
the bacteria
would die. Only those few carrying the muta
Fig 4.3.7 Chromosomes of a person with Downs syndrome ted,
resistant gene would survive. These woul
d in turn
produce an entire generation of penicillin

Fig 4.3.7 Chromosomes of a person with Downs syndrome.

SCI4 114
U n i t 4.3 Questions U n i t 4.3 Research /
1 What are the three structural units of DNA?
2 What do the letters A, T, C and G in a DNA base 1 The 1962 Nobel prize for medicine was shared by J.
sequence stand for? Watson, M. Wilkins and F. Crick for their work in
3 What is meant by complementary bases in the structure creating a model of DNA. Write a short biography for
of DNA? each of these scientists, outlining their contributions to
4 How does one DNA segment differ from another? our understanding of genetics.
5 The following base sequence is part of a gene which 2 Research human genetic abnormalities which involve
codes for a protein: CGGATAAGCTA. Write the having the wrong number of chromosomes. Report on
complementary DNA base sequence. the types, symptoms, occurrence and treatment of the
6 With the aid of a diagram, explain how DNA is abnormalities.
replicated. 3 Find out more about gene switching and gene
7 What is a codon? expression. You could start by considering the work of
8 How does one protein differ from another? F. Jacob, J. Monod and H. Harris.
9 What is the minimum number of bases a section of DNA 4 Investigate mutagens. What are they? Can we avoid
would need to code for a protein that has 200 amino them? Do regulations exist to limit our exposure to
acids? mutagens?
10 a What is meant by gene expression? 5 Find out more about the way in which proteins are
b Give one example of how an environmental factor
may influence gene expression.
made using the genetic code by investigating the
processes of transcription and translation.
11 a What is a mutation?
b Name three mutagens.
12 Give an example of a disease caused by:
a a single gene mutation U n i t 4.3 Practical
b an abnormal number of chromosomes
13 Mutations are usually harmful. When might a mutation activity
be beneficial?
14 Why are mutations in a body cell unimportant to the
entire species? Unit 4.3 Prac 1
15 Antibiotics are drugs used to treat bacterial infections. Modelling DNA
Explain how the large-scale use of antibiotics may lead
Construct a model of DNA. You might use cardboard for the
to untreatable infections in the future.
uprights and coloured paperclips for complementary bases.
You might use construction blocks or polystyrene pieces. Use
your imagination! Your model should show all the basic
features of DNA, and be able to demonstrate the process of

115 Chapter 4 Genetics

Unit 4.4 Controlling
Is it possible to change your inheritance? The species. Resistance to a fungal rust disease in Australian
idea of somehow trying to control inherited wheat is produced by breeding wild relatives of wheat
that have the resistance with high-yielding wheat plants.
characteristics is not new. For thousands of Further variation is produced by deliberately
years farmers have used breeding techniques introducing mutations into a population, then selecting
to produce plants and animals with selected, out those individuals with desirable characteristics. For
desirable characteristics. What is new is the instance, nectarines are a mutant form of peach.
precision and control with which we may
select those desirable characteristics. Using gene
technology to modifyn
Selective breedingn plants and animalsn
Keeping the seeds from only the best plants for next
years crop is a simple example of selective breeding.
Increased knowledge of the mechanism of inheritance, TR
by DNA, has allowed selective breeding to be carried home
Selecting a male and a female with the right mix of
out in a much more precise and efficient way. Genetic
desirable characteristics to produce sheep with thicker
engineering, or gene technology, is the manipulation of
wool, dairy cattle with more milk and beef cattle with
the DNA within an organism. It involves isolating a gene,
more meat are other examples. This type of selective
altering it, copying it and reinserting it into another
breeding relies on the natural variation within a species,
organism, or into a new position on the DNA of the same
or it may use the variation in a wild relative of the
organism. Use of gene technology has helped to develop
plants with larger harvests, greater disease resistance and
improved storage and handling properties.
Organisms which have had their gene sequence
altered are called genetically modified plants or animals.
For example, a genetically modified cotton contains an
inserted gene. This insertion produces a protein that kills
the Heliothis caterpillar when it eats the cotton leaves.
This caterpillar is the major pest of the cotton. The
inserted gene comes from a naturally occurring
bacterium, Bacillus thuringiensils, or Bt. The modified
cotton is called Bt cotton. Australians currently use a
number of products from genetically modified crops in
their foods. These include canola oil, soy beans in soy-
Fig 4.4.1 Nectarines are a mutant form of peach. based products and potatoes in processed snack foods.

SCI4 116
DNA segments are not directly inserted into bacteria.
Circular pieces of DNA called plasmids are used.
These occur naturally in bacterial cells. A plasmid is cut
open using an enzyme, the foreign DNA inserted, and
the plasmid rejoined. This creates a mixed molecule
called recombinant DNA.
Altered plasmids may be put into bacteria, and the
bacteria cultured to provide many copies of the
introduced DNA. The bacteria may also obey the
instructions of the inserted DNA and manufacture the
protein it codes for. Nearly all the insulin used by
diabetics in Australia is made in this way. Other
substances produced using this kind of technology
include human growth hormone, some antibiotics, and
Fig 4.4.2 Genetically modified food. vaccines against diseases such as hepatitis B.
Inserting modified genes into plant and animal cells
Scientists have known how to manipulate genes since is also possible. In animals the gene is inserted into the
the early 1970s. Gene technology uses naturally occurring single-celled embryo from which all the animals cells
enzymes, some that cut DNA, and others that join DNA. will develop. In plants, the gene may be shot into host
The enzymes recognise particular base sequences, and cells using a miniature gun. The chance of the inserted
cut the DNA near these sequences. Using a variety of gene becoming permanently fixed into chromosomes is TR
these enzymes allows scientists to cut and join DNA in very low. Many cells are therefore exposed, and the home
much the same way as a film editor cuts and splices successful ones isolated. The plant or animal with the
lengths of film to make a movie. new gene is called transgenic.
DNA segments may be inserted
into bacteria which act rather like
factories to copy the segments.

4. DNA is cut using

S c ie n ce 3. DNA is
an enzyme to isolate
a gene.
snip p e t removed
from a
Who owns your genes? human
y has paved the
The use of gene technolog 1. Plasmids are 2. Plasmids
ting and sale of
way for the patenting, marke removed from are cut using
tec hni que s.
genetic materials and a bacterium. an enzyme.
firm s pat ent the dat a of gene
use for that data.
sequences, together with a
pat ent a gene it
For example, a firm might
e a dru g to overcome
hopes to use to produc
is con side rab le deb ate
obesity. There
ng the se pat ent s. Som e argue they
cos tly research 7. Bacterial cells grow and 6. The recombinant 5. Human gene is inserted
are necessary to support the argue
dru gs. Oth ers divide to produce many copies DNA is put into a into the plasmid to form
needed to produce new
ibit res ear ch by givi ng one of the introduced gene. bacterium. recombinant DNA.
that patents inh t
e, and tha
firm exclusive rights to a gen es.
etic rem edi
monopolies may control gen Fig 4.4.3 Gene technology using recombinant DNA.

117 Chapter 4 Genetics

All technologies have benefits and risks. Gene
technology is no exception. There are many 1. Fluid is removed
issues surrounding the use of gene technology, as through the mothers
people weigh the potential benefits against the placenta
potential risks. Listed at the bottom of the page
are some of these issues. Can you think of others?
cavity 2. Fluid is
Further uses ofn a fluid-filled
to separate
gene technologyn around
the foetus.

Gene probes cells which

fall off the wall of
Another application of gene technology is the use foetus uterus 3. Cells are isolated
of gene probes. These are small pieces of DNA and grown in a
with a base sequence identical to part of a gene.
Each probe can pair with a specific gene. Probes
can be made that recognise the base sequences of 4. Test for genetic 5. Test for 6. Test for 7. Test for XY
diseases using enzymes. abnormal chromosome.
genes associated with diseases. gene probes. number of
DNA samples from embryos can be tested chromosomes.
with probes to determine whether or not a disease
like sickle cell or cystic fibrosis is present. This
Fig 4.4.4 Prenatal testing by amniocentesis. Cells for testing may also be obtained
from the placenta in a process called chorionic villus sampling. TR
Some arguments for gene technology Some arguments against gene technology
Gene technology is faster and more efficient than Genetic modification is not natural. Interfering with a
conventional selective breeding techniques. highly evolved and delicate system may upset it in
Food production will be increased due to better disease unpredictable ways.
and drought resistance in plants. GM plants with in-built pesticides may kill insects that
Animals will produce leaner meat, thicker wool and have are not pests.
increased productivity. Pests will, in time, develop resistance to the in-built
Genetically modified (GM) foods may be more pesticides in GM plants.
nutritious, cheaper and keep better than conventional GM herbicide-resistant plants may transfer their
foods. resistance to other plants, creating superweeds.
GM crops with pest resistance will reduce the use of GM herbicide-resistant plants may encourage the
harmful chemical pesticides. excessive use of herbicides.
GM crops may be produced that tolerate poor soils and GM crops will not necessarily solve the worlds food
salinity, allowing more areas to be farmed. problems. Food shortages have more to do with
Gene technology can be used to locate and study genes economics and politics than with agriculture.
causing human disease, and genes which predispose Multinational companies own the rights to most GM
people to other diseases. plants. Farmers will incur costs to use the modified plants.
Gene technology can be used to create new, improved Some religious groups have specific arguments against
medical treatments, such as the production of insulin. the use of GM foods.

SCI4 118
prenatal testing is usually carried out in the first 812 Cloning WS 4.3
weeks of pregnancy. Cells to be tested are obtained by In 1997, a lamb born in Scotland captured the worlds
amniocentesis or chorionic villus sampling. These attention. The lamb, called Dolly, was genetically
techniques (shown in Fig 4.4.4) involve inserting a identical to its mother, and was the first successful
needle into the uterus to obtain cells which fall off the cloning of an adult mammal. Cloning refers to the
foetus during its normal development. Cells are also production of an organism from a single cell. Each body
tested for the type of sex chromosomes and counted to cell contains all the information needed to make a new
identify chromosome abnormalities. Testing for certain organism. A clone results when one of these body cells
enzymes is also carried out. These tests give further is grown to produce a new individual.
clues as to the presence of genetic disorders. In 2000, Australias first cloned merino sheep
Another use of gene probes is the DNA (Matilda) and first cloned calf (Suzi) were born. They
fingerprinting used in criminal cases. DNA were produced using techniques similar to those used to
fingerprinting relies on the fact that each person has a produce Dolly. Why are scientists so excited by the
unique sequence of bases in their DNA (identical twins cloning of Matilda and Suzi? The technology used to
are an exception). Scientists do not look at the entire produce them could help Australias wool and dairy
base sequence, but at a small subset of it. A sample of industries. It takes many years of selective breeding to
DNA is cut into fragments using enzymes. These develop a flock of sheep with improved qualities such as
fragments are separated. Gene probes with radioactive finer wool and good disease resistance. Given one sheep
labels attached are used to detect and label specific with the desired qualities, cloning could produce that
base sequences in these extracted fragments, producing flock in a single generation.
a picture of the persons DNA. This picture is To clone a sheep, a cell from a donor sheep is TR
compared to one obtained using DNA from a crime obtained. An egg cell from another sheep is also home
scene. If they do not match, the DNA came from obtained. The DNA is removed from this egg cell. The
different people. egg cell and the donor cell are fused to create a single
cell, the first cell of the new sheep. The fused cell grows

S1 S2 V C St

Fig 4.4.5 Whodunnit? DNA fingerprints from suspects (S1 and S2), the Fig 4.4.6 Matilda, the first cloned sheep in Australia. She was born in 2000.
victim (V), the crime scene (C) and a standard (St). Can we tell
who is guilty?

119 Chapter 4 Genetics

Cloning and gene cell therapy clearly offer benefits,
cell from the egg cell from but they are not without risks. Can you think of some
donor sheep another sheep of these risks, and of ethical questions raised by the
possibility of altering or selecting the genetic material of
DNA removed a child? In Australia, the Genetic Manipulation and
two cells egg cell without Advisory Committee currently reviews all experimental
fused DNA
together and commercial use of genetically modified organisms.

Embryo is grown The human genomen

for several days in Gene technology relies to some degree on knowing
a glass dish.
where specific genes are. A genetic map shows the
positions of specific genes along the chromosomes.
Maps have been worked out for many organisms,
including bacteria, fruit fly, some fungi and corn. The
Embryo is implanted human genome project is an international effort to
into a host ewe.
determine the complete genetic code for humans. It
identifies every gene that codes for each characteristic,
as well as the base pairs that make up the genes. The
mapping stage of the project was completed in 2000.
Matilda is born.
Some findings of the project were that the genetic code TR
which makes each person unique is in fact 99.9% the home
same for all people. Only 6% of the DNA actually codes
Fig 4.4.7 Cloning Matilda. for genes; the rest is termed junk DNA. The map
contains 32 000 genes, far fewer than the expected 100
000. The code specifies 26 000 proteins, but it is not
as a normal embryo. The embryo is grown for several
known how these proteins all function and interact.
days in a glass dish, then implanted into a host ewe to
There is still a great deal to be learned. Armed with the
develop and be born in the usual way. Could other
map, more than 400 trials are now under way to attempt
mammals, including humans, be cloned in the future?
to use gene technology to cure diseases ranging from
haemophilia to cancer.
Gene cell therapy
Another future prospect is the use of cell gene therapy.
This involves removing the genetic material from some Sc ie n ce snip pe t
body cells, manipulating it and reinserting it into the
person. It could be used to overcome diseases such as Living longer
cancer. An individuals genetic code might be mapped The Age newspaper, 28 May 2001, reported
some of the
to identify genes which predispose the person to allergic predictions made by Francis Collins, head
of the human genome
project. These included that by 2030 the
reactions or other diseases. More controversial is the use ageing process will be fully catalogued.
genes involved in the
By 2040 gene therapy
of gene technology to alter the DNA passed from parent and gene-based designer drugs will be avail
able for most
to child with a view to overcoming diseases such as diseases, and the average life span will
then be 90 years.

SCI4 120
U n i t 4.4 Questions U n i t 4.4 Research /
1 Give two examples of selective breeding.
2 What is gene technology? 1 It has been suggested that extinct animals could be re-created
3 Give two examples of how gene technology has using preserved DNA and cloning. Research efforts to conduct
been used to benefit humans. such a project. Present a report of your findings, including
4 a What is meant by a genetically modified arguments for and against the re-creation.
plant? 2 Find out more about the use of DNA fingerprinting in criminal
b What is a transgenic animal? cases or in cases involving disputes over who is the father of a
5 Bt cotton produces a protein which kills its major particular child. Is DNA fingerprinting foolproof?
pest, the Heliothis caterpillar. Suggest two ways 3 Investigate arguments for and against the use of prenatal testing
in which other organisms might be affected by and early abortion for family planning.
the modified cotton. 4 Visit the human genome project website,
6 a What are plasmids?
b Where are plasmids found? 5 In early embryonic cells all the genes are still working. These
c How are plasmids used in gene technology? cells (called stem cells) can theoretically turn into any of the
7 What is recombinant DNA? many cell types which make up your body. Find out why stem
8 a What is a gene probe? cells are of great interest to scientists, and why there is
b State two uses of gene probes. controversy surrounding their use.
9 What are three characteristics of an embryo
which may be determined by prenatal testing?
6 Imagine a multinational company owns the patent on a
genetically modified variety of wheat which is high yielding
10 How are the cells used in prenatal testing and drought tolerant. Investigate ways in which this patent
obtained? could affect an Australian wheat farmer.
11 Explain why the same results are obtained using
DNA fingerprinting when the sample is taken C R E AT I V E W R I T I N G
from blood or from hair.
12 a What is cell gene therapy?
How do you see it?
b Suggest two possible uses of cell gene 1 A genetically modified soybean that can tolerate a
therapy. commonly used weedkiller has been produced. Using
13 Scientists have suggested that within 5 years pet this soybean would allow farmers to spray to kill weeds
lovers may be able to clone their dog or cat. without killing the soybean crop. It is proposed that this
a What is cloning? soybean be planted in Australia.
Write a letter to the newspaper explaining why you
b Would a cloned cat or dog have all the
think the planting should be allowed. Write a second
characteristics of the original animal?
letter explaining why you think it should not be allowed.
2 Suppose an experiment is being conducted to
14 Imagine a persons genetic code was mapped genetically modify cows milk so that it has a
and a gene predisposing that person to heart composition more like that of human breast milk. To
disease was identified. achieve this, a single human gene is to be inserted into
a How might the person use this information? the DNA of a cows zygote (the first cell of a new cow).
b How might an insurance company or a Imagine you are the human gene. Describe what
prospective employer use this information? happens to you during the course of the experiment,
15 a What is the human genome? and explain how you feel about being used in this way.
b What were two features of the genome
established by the human genome project?

121 Chapter 4 Genetics

Chapter review questions
1 Match each term to a relevant description. 7 Use examples to explain the difference between dominant
and codominant inheritance.
Terms Descriptions 8 For snapdragons, a cross between a plant with red
Meiosis The chemical which carries the genetic code flowers (RR) and a plant with white flowers (WW)
Mitosis A hereditary unit produces a plant with pink flowers. What is the expected
Diploid Cell division producing gametes ratio of red, white and pink flowers in the offspring of a
Haploid Cell division producing daughter cells identical to the cross between:
parent cell a red-flowered and pink-flowered plants?
Gene A cell having two of each type of chromosome b two pink-flowered plants?
DNA A cell having one of each type of chromosome 9 The father of a child has blood group AB; the mother has
group O. What are the possible blood groups of the child?
10 The ability to taste a bitter chemical known as PTC is
2 Which of the following statements are correct for: dominant over the inability to taste it. Three children in a
a mitosis? family can taste PTC; one cannot. Explain whether it is
b meiosis? possible for both parents to be:
i It involves replication of DNA strands. a non-tasters of PTC
ii Two daughter cells are produced. b tasters of PTC
iii Four daughter cells are produced.
iv It produces cells with half the chromosome
11 Albinism is caused by a single recessive gene (a). Two
people heterozygous for albinism produce a child.
number of the parent cell. a Are the parents albino? Explain.
v It occurs in most body cells. b What are the chances that the child will be albino?
3 Distinguish between genes, chromosomes and DNA. 12 A pedigree for a rare X-linked disease is shown in the
4 In Mendels pea plants, long-stem flowers were dominant figure below. The symbols used to show the relevant
over short-stem flowers. Stem length is controlled by a genes are Xm for the recessive gene on the X chromosome
single gene with dominant and recessive alleles. Using and XM for the normal gene on the X chromosome.
this example, explain what is meant by the terms: a Give the genotypes of individuals:
a genotype i II male 3 ii the female partner of II male 3
b phenotype iii III male 1
c homozygous b Is the disease carried by a dominant or a recessive
d heterozygous gene? Explain your answer.
5 Use examples to explain the difference between continuous c What is the probability that a male child of III female
and discontinuous variation within a population. 2 and her partner will have the disease?
6 In fruit fly, the allele which produces red eyes (R) is
dominant over the allele for white eyes (r). A red-eyed I
heterozygous fruit fly is crossed with a white-eyed fruit fly.
a State the genotype of each fruit fly.
b What are the possible genotypes of the offspring? 1 2 3
c What percentage of offspring would be expected to
have each of the genotypes listed in b?
d What are the possible phenotypes of the offspring? 1 2
e What percentage of offspring would be expected to
have each of the phenotypes listed in d? IV
1 2

SCI4 122
13 Colour blindness is an X-linked recessive 17 Match each term to a relevant description.
disorder. The symbols used to show the relevant
genes are Xn for the recessive gene on the X Terms Descriptions
chromosome and XN for the normal gene on the Codon Causes a spontaneous change in a gene or chromosome
X chromosome. A colour-blind female partners a Genetic map A small piece of DNA that recognises a gene
non-colour-blind male. Plasmid An organism with a new gene
a What are the two possible genotypes of their Gene probe Shows positions of genes on chromosomes
Recombinant DNA A circular piece of DNA
b Their daughters will be carriers of the
Transgenic organism A molecule containing DNA from two organisms
disorder. What does this mean?
Mutagen A sequence of three bases which codes for an amino acid
14 The structure of DNA may be likened to that of a
twisted ladder.
a What forms the uprights of the ladder? 18 Explain what is meant by:
b What forms the rungs of the ladder? a gene technology
c What is the name given to the structure b cloning
formed when the ladder is twisted? c gene cell therapy
15 Briefly describe the process of replication of DNA. 19 a State three arguments for the use of genetically modified foods.
16 Explain how a mutation may be: b State three arguments against the use of genetically
a harmful to an individual but have no effect modified foods.
on the species 20 a Approximately what percentage of your total DNA base
b harmful to the species but not to the individual sequence is the same as that of your classmates?
b Is it possible for two people to have exactly the same total
c beneficial to the species
DNA base sequence? Explain. TR
WS 4.4 home
Unit 4.1 Inheritance

Word Clue
1___ ___ r ___ ___ ity Inherited characteristics.
2 ___ ___ ___ d ___ ___ The father of genetics.
3 ___ ___ ___ e A hereditary unit.
4 ___ N ___ The chemical of which genes are made.
5 ___ ___ ___ o ___ o ___ o ___ ___ ___ Structures on which genes are located.
6 h ___ ___o l o ___ ___ ___ ___ pair Chromosomes with the same size and shape.
7 ___ ll ___ ___ ___ ___ Alternate forms of the same gene.
8 ___ ___ p l ___ ___ d A cell containing one of each type of chromosome.
9 ___ ___ ___ ___ ett square Used to predict types of offspring.
10 m ___ ___ osis Cell division which produces gametes.
11 ___ ___ ___ ___ type Combination of genes for a particular characteristic.
12 ___ ___ ___ ___ zygous Having only one type of allele for a characteristic.
13 ___ ___ ___ ess ___ ___ ___ gene The gene which is masked in the heterozygous state.
14 ___ ___ d ___ m ___ ___ ___ ___ ___ e Both alleles produce an effect in the phenotype.

123 Chapter 4 Genetics

Unit 4.2 Human inheritance

Word Clue
1 ___ ___ ___ ___ ___ ism Condition in which pigment is lacking.
2 ___ ___ ___ ___ ___ ___ tinu ___ ___ ___ Variation with sharply defined characteristics.
3 ___ ___ d ___ ___ r ___ ___ A family tree showing the presence of an abnormal characteristic.
4 ___ aem ___ ___ ___ ___ ___ ia A genetic disease where blood does not clot correctly.
5 ___ chromosomes Females carry two of these chromosomes.
6 ___ ___ ___ e Recessive eye colour in white-skinned people.
7 c ___ ___ ___ ier A person with a hidden gene for a particular disease.
8 ___ ___ l ___ ___ ___ blindness An X-linked disorder.

Unit 4.3 The molecular basis of inheritance

Word Clue
1 ___ ___ uble ___ e ___ ___ x Two strands twisted together.
2 n___ ___ ___ ___ gen b___ ___ ___ s Form the rungs of the DNA ladder.
3 ___ ___ pli ___ ___ ___ ion Copying of DNA during mitosis.
4 ___ ___ o ___ ___ in A long chain of amino acids.
5 ___ ___ d ___ ___ Three bases coding for an amino acid. TR
6 ___ ___ tat ___ ___ ___ Spontaneous change in a gene or chromosome. home
7 si ___ ___ ___ ___ c ___ ___ ___ Disease where the red blood cells are distorted in shape.
8 ___ ___ w ___ ___ syndrome Caused by an extra chromosome 21.
9 m ___ ___ ___ g ___ ___ s Cause mutations.

Unit 4.4 Controlling inheritance

Word Clue
1 g ___ ___ ___ te___ ___ ___ ___ ___ ogy Manipulating the DNA of an organism.
2 p ___ ___ ___ m ___ ___ s Circular pieces of DNA.
3 ___ ___ com ___ ___ ___ ant DNA A molecule containing DNA from two organisms.
4 ___ ___ ans ___ ___ ___ ic An organism containing a new gene.
5 gene ___ ___ ___ ___ ___ s Small pieces of DNA which recognise genes.
6 hum ___ ___ g ___ ___ ___ ___ ___ A map showing the positions of genes in humans.
7 am ___ ___ ___ cent ___ ___ ___ ___ Used to obtain embryonic cells for testing.

SCI4 124