LIFE SCIENCES

GRADE 12 CAPS
STRUCTURED, CLEAR, PRACTICAL -
HELPING TEACHERS UNLOCK THE
POWER OF NCS
KNOWLEDGE AREA:
Life Processes in Plants and
Animals

TOPIC 2.2: Genetic and

Inheritance

Sex Chromosomes
SUMMARY OF PRESENTATION:
Sex Chromosomes

Sex Determination

Inheritance of Sex Linked

Characteristics

Haemophilia

Colour Blindness
SEX CHROMOSOMES:
 Every species has a specific
number of chromosomes
as mentioned earlier.
 You must also remember
that the shape and size of
the chromosome is unique
to the species too.
Karyotype of human
 The number, shape and
arrangement of all the
chromosomes in the
nucleus of the somatic cell
is called the
karyotype. Karyotype of Dog
SEX CHROMOSOMES:
 You should also remember that in every somatic cell
there are 23 pairs of chromosomes.
 22 pairs are the autosomes and 1 pair is the gonosome.
 Remember the gonosome is the sex chromosome.
 There are 2 types of gonosomes or sex chromosomes.
 These are the X and Y chromosome.
 So in a female there are 2 XX chromosomes and 22
pairs of autosomes.
 In males there are XY chromosomes and 22 pairs of
autosomes.
 The shape and size of the gonosome is different in both
male and females.
SEX CHROMOSOMES:
 Therefore the karyotype of both the males and
females is different.
SEX CHROMOSOMES:
 Look at the male
karyotype.
 Look at pair 23, there are
2 different chromosomes.
 One is taller than the
other.
 The reason for this
difference is because one
is the X chromosome and
the other is the Y
chromosome.
SEX CHROMOSOMES:
 Look at the female
karyotype.
 Once again look at
pair 23.
 Here we can see that
both these
chromosomes are
similar.
 This is because they
are both X
chromosomes.
SEX CHROMOSOMES:
 We can see that there is definitely a difference
between male and female karyotypes.

 You must learn these differences.

 You must also be able to identify

and differentiate between the
male and female karyotype.
TERMINOLOGY:
TERM:

Karotype
DEFINITION: USE IN SENTENCE:

Is the number, shape and A karyotype can be used to

arrangement of all the look for any genetic
chromosomes in the disorders that may occur.
nucleus of the somatic cell.
SEX DETERMINATION:
 The gametes have only 23 chromosomes.
 This means that there are 22 autosomes and 1
gonosome.
 The egg cell will therefore have 22 autosomes and
1 X chromosome.
 The sperm cell will therefore have 22 autosomes
and either a X chromosome or Y chromosome.
 Therefore when a X sperm cell fertilizes an egg,
the zygote will have 2 XX chromosomes.

This is female.
SEX DETERMINATION:
 When a Y sperm fertilizes an egg, the zygote will
have a XY chromosome.

This makes it a male.
 From the above we can see that it is the sperm that
determines the sex of the offspring.
 This is because the female has only X chromosomes
but the male has both X and Y chromosomes.
 There is a 50% chance of the offspring being male
or female because. there are an equal number of X
and Y sperms
 Therefore the ratio of male: female is 50:50.
SEX DETERMINATION:
 Now lets look at a genetic cross showing sex
determination.
P1 phenotype: Male X female
genotype: XY X XX
meiosis
gametes: X Y X X
fertilization
F1 genotype: XX XY
phenotype: 50% female; 50%male
INHERITANCE OF SEX LINKED
CHARACTERISTICS:
 Genes are found on the autosomes and on the gonosomes.
 These are genes for bodily characteristics.

These genes are called sex-linked
chromosomes because they are found on the sex
chromosome.
Lets look at a female.
 Remember that the gonosome in a female is XX.
 Therefore this means that there 2 alleles for every
characteristic.
 This means that if a recessive allele is found on one
chromosome then the dominant allele may be found on
the other X chromosome.
INHERITANCE OF SEX LINKED
CHARACTERISTICS:
 This is especially important in diseases, because it
means that the disease will not show up in the
phenotype because the dominant allele is present
to mask the recessive allele.
 Therefore the individual will not have the disease.
 Now in the males it is very different because the
male have XY chromosomes.
 This means that if an allele occurs on the X
chromosome , the male does not have another X
chromosome with the corresponding allele.
 The allele will not be found on the Y chromosome.
INHERITANCE OF SEX LINKED
CHARACTERISTICS:
 Because the Y chromosome is different form the
X chromosome.
 In other words there is no dominant allele to
mask the recessive allele.
 Therefore if the male has just 1 allele for a
particular disease, then he will have the disease.
 Because he does not have the dominant allele to
mask the recessive allele.
 Such diseases are called sex-linked diseases.
 Two examples of sex-linked diseases that we will
look at are haemophilia and colour blindness.
INHERITANCE OF SEX LINKED
CHARACTERISTICS:
 Sex-linked diseases will effect mostly males, for
the same reason we discussed earlier.
 These diseases are recessive conditions because
it is caused by the recessive allele found on the X
chromosome.
 There is no dominant gene to mask it.

Now lets look at how these crosses are

represented using a genetic cross.
INHERITANCE OF SEX LINKED
CHARACTERISTICS:
 We are going to use the example of haemophilia.
 This disease is caused by a recessive gene.
 Therefore it is called a recessive condition.
 This gene is found on the X chromosome.
 We use the letter H to show the allele for normal
blood.
 Then the letter h is used to show haemophilia.
 The female will have 2 alleles for the condition on the
XX chromosome.
 These alleles will occur in different combinations to
produce different genotypes and phenotypes in
females.
INHERITANCE OF SEX LINKED
CHARACTERISTICS:
 Now lets look at these different combinations.
 However before we do this we must know that
the sex linked characteristics must be shown on
the sex chromosome as shown below.
XHXH
Now lets look at females…
 There 3 possible genotypes…

1. A female may have 2 normal alleles. Her

genotype will be XHXH and her phenotype will
be normal blood.
INHERITANCE OF SEX LINKED
CHARACTERISTICS:
2. The female may have 2 recessive alleles for the
disease, therefore her genotype will be XhXh This
means that she has the disease.
3. The female may have 1 recessive and 1 dominant
allele, therefore are genotype will be XHXh her
phenotype will be normal. But she will be a
carrier, this means that she carries the gene for
the disease but she does not have the disease.

 With males it is different, because males only

have 1 X chromosome.
INHERITANCE OF SEX LINKED
CHARACTERISTICS:
 This means that they can have the H allele on the
X chromosome which makes them normal that is
they do not have the disease. The genotype will
be XHY.
 On the other hand they may have the h allele on
the X chromosome. In this case they will
definitely have the disease, because they do not
have another X chromosome with the dominant
gene to mask the recessive gene. The genotype
for this condition will be XhY.
Lets quickly summarize these genotypes and
phenotypes in a table.
INHERITANCE OF SEX LINKED
CHARACTERISTICS:
This is a good learning tool. If you learn this you
will know
all the possible genotypes and phenotypes.
Please learn it!!!
Genotype Phenotype
XHY Normal male
Xh Y Male with haemophilia
XHXH Normal female
Xh Xh Female with haemophilia
XHXh Normal female (carrier)
INHERITANCE OF SEX LINKED CHARACTERISTICS:
Now lets look at a cross between a normal male
and a haemophiliac female.
P1 phenotype: normal male X haemophiliac
female
genotype: XHY X XhXh
meiosis
gametes: XH Y Xh Xh
fertilization
XH Y
F1 genotype:
Xh XH Xh XhY
Xh XHXh XhY
INHERITANCE OF SEX LINKED
CHARACTERISTICS:
Phenotype: 50% normal female; 50% male with
haemophilia.

 This means that all the female children born to

this couple will be normal. They will not have the
disease, but they will be carriers.
 All the males born to this couple will have
haemophilia.
 So if the question ask what percentage of /how
many males will have the disease, the answer will
be 100% or all.
INHERITANCE OF SEX LINKED
CHARACTERISTICS:
 If the question asks what percentage of or how
many females will be carriers, the answer will be
100% or all.
 But if the question asks how many or what
percentage will be carriers and haemophiliac the
answer will be 50% carriers and 50%
haemophiliac and half carriers and half
haemophiliac.
SOMETHING FOR YOU TO DO:
Work out these 2 problems.

1. A cross between a haemophiliac male and a

normal female
2. A cross between a haemophiliac male and a
haemophiliac female.
SOLUTION:
1. Remember a normal female can also be a carrier,
therefore here there are 2 possible answers! This
is one.
P1 phenotype: haemophiliac X normal female
male
genotype: XhY X XHXH
meiosis
gametes: Xh Y XH XH
fertilization
Xh Y
F1 genotype:
XH XHXh XHY
XH XHXh XHY
SOLUTION
Phenotype: normal male; normal female
The second possible answer is as follows…
P1 phenotype: haemophiliac X normal
male female
genotype: XhY X XHXh
meiosis
gametes: Xh Y XH Xh
fertilization
F1 genotype: Xh Y
XH XHXh XHY
Xh Xh Xh Xh Y
SOLUTION:
Phenotype: normal female, haemophiliac
female; normal male and
haemophiliac male.

Lets look at the phenotype:

1. 25% of the children will be haemophiliac
females, 25% normal females, 25%
hemophiliac males and 25% normal males .
2. We can also say that 50% of the females will be
normal and 50% will be haemophiliac.
3. Also 50% of the males will be normal and 50%
of the males will have the disease.
SOLUTION:
2.
P1 phenotype: haemophiliac X haemophiliac
male female
genotype: XhY X XhXh
meiosis
gametes: Xh Y Xh Xh
fertilization
F1 genotype: Xh Y
Xh Xh Xh Xh Y
Xh Xh Xh Xh Y
SOLUTION:
Phenotype: haemophiliac male; haemophiliac
female
SOMETHING FOR YOU TO DO:
SOLUTION:
2.1.1
P1 phenotype: normal male X heterozygous
female
genotype: XHY X XHXh
meiosis
gametes: XH Y XH Xh
fertilization
XH Y
F1 genotype: XH XHXH XHY
Xh XHXh Xh Y

Phenotype: normal female, heterozygous female,

normal male and haemophiliac male
SOLUTION:
2.1.2 25% chance /1 out of 4/ ¼
2.1.3 The male has only one X chromosome
Y chromosome does not have the allele for
this trait
OR
If he had ‘h’ he would be a sufferer,
therefore he must have had ‘H’
HAEMOPHILIA:
 Under normal conditions during an injury the skin
tears and a blood vessel ruptures.
 This results in bleeding, but the blood platelets
produces clotting agents.
 These clotting agents causes the blood to clot,
stopping the bleeding.
 However in some people the blood does not clot.
 This occurs because the body does not have
clotting agents.
 We say that the person is suffering from
haemophilia.
HAEMOPHILIA:
Causes:

 This disease is caused by a recessive allele on the

X chromosome.

Symptoms:
1. When the blood leaves the blood vessel it does
not clot.
2. Internal bleeding at joints. This can lead to
arthritis.
3. Can bleed to death without treatment.
HAEMOPHILIA:
Treatment:

 Purified clotting agents can be extracted from

human blood and injected into the sufferer.
 However this treatment has 2 problems…

1. If the clotting agents are taken from infected

blood then the person receiving the blood can
get the infection as well.
2. The immune system may reject the clotting
agents. The patients must be given immuno –
suppressants to suppress the immune system.
HAEMOPHILIA:
Screening:

 Genetic testing has to be done.

 The X chromosome of parents must be tested.
 This would show whether the parents are carriers
of the recessive allele.
 Once the test is done then the geneticists to
counsel parents on whether their children will
have the disease or not and how to deal with the
illness.
TERMINOLOGY:
TERM:
Haemophilia
DEFINITION: USE IN SENTENCE:
Refers to a genetic disorder A person suffering from
in which the blood is not haemophilia must be
able to clot because of a careful not to injure
lack of clotting agents. themselves as this could
lead to a loss of blood.
COLOUR BLINDNESS:
 There are many types of colour blindness.
 The most common colour blindness is red-green
colour blindness.
 In this type of colour blindness the person cannot
tell the difference between red and green.

Causes…
 Like haemophilia it is caused by a recessive allele
on the X chromosome.
COLOUR BLINDNESS:
Symptoms…

 The sufferer is unable to tell the difference

between red and green, but can see other colours.
 The patient can see many colours, so they may not
know that they are seeing the colours differently.

Treatment…

 If the colour-blindness is inherited, then it cannot

be treated.
COLOUR BLINDNESS:
However there are some ways in which the colour
vision of the patient may be improved. These
are…
1. The patient can wear coloured contact lens.
This may help the patient to see the difference
between the colours, but the lenses do not
provide normal colour vision and objects may
be distorted.
2. Patients with colour blindness are able to see
better when there is less glare and brightness,
therefore they can wear glasses to block the
glare.
TERMINOLOGY:
 Karyotype: is the number, shape and
arrangement of all the chromosomes in the
nucleus of the somatic cell.
 Haemophilia: refers to a genetic disorder in
which the blood is not able to clot because of a
lack of clotting agents.
 QUESTION 1:

1. A genetic disorder characterized by the absence

of a blood clotting agent.
A. Haemophilia
B. Colour blindness
C. Both A and B
D. Neither A nor B
 QUESTION 2

2. All chromosomes found in a cell except sex

chromosomes…
A. Autosomes
B. Gonosomes
C. Both A and B
D. Neither A nor B
 QUESTION 3

3. The genotype of a heterozygous female for

haemophilia is…
A. XHY
B. XHXH
C. XHXh
D. XhY
 QUESTION 4

4. In haemophilia a normal female can have the

genotype…
A. XHXH
B. XHXh
C. Both A and B
D. Neither A nor B
 QUESTION 5

5. A male with haemophilia will have the

genotype…
A. XHY
B. XHXH
C. XHXh
D. XhY
 QUESTION 6

6. The offspring produced in a cross between a normal

male and a haemophiliac female is…
A. 50% normal female and 50% male with
haemophilia
B. 50% normal male and 50% female with
haemophilia
C. 50% normal male and 50% normal female
D. Normal female, female with haemophilia, normal
male and male with haemophilia
 QUESTION 7

7. The offspring produced in a cross with a haemophiliac

male and normal female…
A. 50% normal female and 50% male with
haemophilia
B. 50% normal male and 50% female with
haemophilia
C. 50% normal male and 50% normal female
D. Normal female, female with haemophilia, normal
male and male with haemophilia
 QUESTION 8

8. The offspring produced in a cross with a

haemophiliac male and a haemophiliac female is…
A. 50% normal female and 50% male with
haemophilia
B. 50% normal male and 50% female with
haemophilia
C. 50% normal male and 50% normal female
D. Normal female, female with haemophilia, normal
male and male with haemophilia
 QUESTION 9

9. Colour blindness is carried by the recessive gene (n)

found on the X chromosome. The genotype of the
offspring in a cross between a normal male and a
colour blind female is…
A . X NX n X nY
B. XNY XN XN
C. XNXn XN XN
D. XNXn only
 QUESTION 10

10. Colour blindness is carried by the recessive gene (n)

found on the X chromosome. The genotype of the
offspring in a cross between a colour blind male and
a carrier female is…
A . X NX n X nY X N Y X N X N
B. XNXn X nY
C. XNY X N XN
D. XnY X NY
SOLUTION:
1. A
2. A
3. C
4. C
5. D
6. A
7. D
8. A
9. A
10. A