SEX LINKED INHERITANCE & PEDIGREES

Each cell in your body has 46 chromosomes, or 23 pairs of chromosomes. The chromosomes in
one of these pairs are called the sex chromosomes. In females, the pair contains two X
chromosomes. In males, it contains an X and a Y chromosome. Some characteristics can be
passed on through genes found on the X or the Y chromosome. This is called SEX-LINKED
INHERITANCE.

Some genes are found on the X chromosome. Females have two sets of these genes because
they have two X chromosomes. Males only have one set of these genes because they have only
one X chromosome. The Y chromosome carries a different set of genes. In normal circumstances,
this is not a problem. However, let’s imagine that there is a faulty gene on one of the X
chromosomes. This faulty gene causes a disease. With two X chromosomes, females are less
likely to develop the disease because they have a second X chromosome, which may carry a
correctly functioning gene. This gene can mask the effect of the faulty one.

Males have only one X chromosome, so if they get an X chromosome with the faulty gene they will
develop the disease. Diseases such as colour blindness, haemophilia and Duchenne muscular
dystrophy are passed on in this way. They are SEX-LINKED DISEASES which, because they are
passed on via the X chromosome, are also referred to as X-LINKED DISEASES.

In the following example of colour blindness, XX is a normal female, XY is a normal male, X cXc is a
female who is colour blind, XcY is a male who is colour blind, and X cX is a female who is a carrier
of the disease. This means that she does not have the disease but carries the faulty gene on one
of her X chromosomes. If a normal male and a carrier female have children, the possible outcomes
will be:

There is a 50-50 chance that one female will be a carrier and a 50-50 chance that one male will be
colour blind. The other children will be normal. Let’s look at another cross.
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So, for a female to be colour blind, her father must have the disease. Her mother must also be
either a carrier of the disease of have the disease herself.

PEDIGREES

It is very time consuming to draw Punnett squares and work out genotypes from this. It is often
easier to draw genetic pedigrees or family trees to show the information. In a family tree, the
different individuals involved are represented by symbols, as shown below. Both pedigrees show
the inheritance of haemophilia, a disease in which blood fails to clot.

In the above example, none of the children have the disease. Only the male parent has the
disease.

In this example, the mother has the disease and the female offspring both carry it. Both males
have the disease.

THE IMPORTANCE OF PEDIGREES

Some genetic diseases appear to run in families and can be detected either before or at birth.
Some examples are:

 Cleft lip (slit in the upper lip between the mouth and the nose)
 Cleft palate (the roof of the mouth is not joined properly)
 Spina bifida (incomplete development of the brain and spinal cord)
 Congenital heart disease (heart defect occurring at birth)

Some genetic diseases develop with age, for example, diabetes and Alzheimer’s disease.
Pedigrees can be drawn for people who have members of their family with these diseases, so that
a person’s risk of developing these genetic diseases or passing the condition on to their children
can be assessed.
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WORKING WITH PEDIGREES

Look at the pedigree below. It traces the history of earlobe attachment through three generations.
The circles represent females and the squares represent males. The shaded circles represent
females with unattached earlobes, and the shaded squares represent males with unattached
earlobes.

Pedigrees can be used to work out the genotypes of the individuals. For example, biologists know
that the gene for unattached earlobes is dominant over the gene for attached earlobes. Let’s call
the gene for unattached earlobes A, and the gene for attached earlobes a. Using these symbols,
you can deduce that:

 Grandparents 1, 3 and 4 will be aa.

 Individuals 7, 8, 9, 11 and 13 will be aa.
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 Grandparent 2 could be AA or Aa.

 Individuals 5, 6, 10, 12 and 14 will be Aa.

The pedigrees can be rewritten to show the phenotypes and genotype of the individuals.

QUESTIONS

1. Explain why females can be carriers for X-linked genes but males cannot.

Females have two x chromosomes meaning that if one of them are affected they area carriers for
that x-linked gene. Males only have one x chromosomes meaning that if they have the x-linked
gene they are not carriers they are affected as it is expressed in the phenotype

2. The ability to roll your tongue into a tube is an inherited characteristic in humans. In the pedigree
below, the shaded individuals can roll their tongues. Work out if tongue-rolling is dominant or
recessive. Then work out the genotypes of the individuals.

(a) Dominant or recessive?

Dominant because it appears in half the offspring of the first generation

(b) Genotypes
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1: Rr 2: Rr 3: Rr RR 4: rr 5: Rr RR

6: rr 7: rr 8: rr 9: rr 10: rr

3. In humans, the allele for long eyelashes is dominant over the allele for short eyelashes. In the
pedigree shown below, the shaded circles and squares show people with long eyelashes. Work out
the genotypes of the members of the pedigree.

1:Ee 2: ee 3: Ee 4: Ee 5: ee 6: Ee

7: Ee 8: ee 9: Ee or EE 10: ee 11: EE or Ee 12: ee

4. The gene for coat colour in cats is carried on the X-chromosome. There are two alleles – black
(B) and orange (O). These two alleles are codominant.

The genotypes XBXB and XBY result in black cats.

The genotypes XOXO and XOY result in orange cats.

The genotype XBXO results in a tortoiseshell cat – a cat that has black, orange and white patches of
fur.

Use a Punnet square to work out the possible genotypes and phenotypes of the offspring resulting
from a cross between a black male and an orange female.

Female Gametes

Xo Xo

Xb Xo Xb Xo Xb
Male
Gametes Y Xo Y XoY

Possible Genotypes:
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XoY XoXb

Possible Phenotypes:

Orange male, tortoiseshell male and female

5. One of the tortoiseshell cats from the cross in question 4 had 6 kittens – one black female, three
tortoiseshell females, one black male and one orange male. What was the genotype of the father.

XbY

6. A man and a woman, both of whom had normal sight, had three children, two boys and a girl.
One of the boys had normal sight and the other was red-green colour blind. The girl had normal
sight. Write the genotypes for this family.

C is the dominant allele for non-colourblindness, c is the recessive allele for colourblindness

Father’s genotype: XCY

Mother’s genotype: XcXC

Normal sighted boy’s genotype: XCY

Red-green colour-blind boy’s genotype: XcY

Girl with normal sight’s genotype: XCXC or XCXc

6. Who will be affected by a Y-linked gene? Explain your answer.

Only males as they only possess a y chromosome.

7. If a man has a mutated gene on his Y chromosome, which grandparent did he inherit it from?

The grandparent from his father.

8. Tortoiseshell cats have fur coats the are a combination of orange and black. The gene for hair
colour is found on the X chromosome. Explain why all tortoiseshell cats are female.

Females have two x chromosomes meaning that the two different alleles for on the x chromosome
can codominate together

9. What are autosomal chromosomes?

Chromosomes that are not sex chromosomes

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10. What is the function of the ‘Y’ chromosome?

To provide functions to the organisms which would make it male

11. One characteristic that is carried by a gene on the ‘X’ sex chromosome is called haemophilia. If
a male has the recessive gene on his X chromosome, he is a haemophiliac, but a female must
carry a recessive gene on both X chromosomes to actually have the disease.

The figure below shows the family tree of Queen Victoria. Which females would have to have at
least one recessive gene to explain this result?

Princess Alice

12. Blonde hair is recessive to dark hair in humans. How can two dark-haired parents have a child
with blonde hair?

The two dark haired parents could be both carriers of the alleles. If blonde hair was x-linked
however then both parents must be carriers of the x-linked allele for it to produce a blonde girl or
the female would have to be a carrier for it to have a blonde boy