Year 10 Semester One Revision Sheet 2

1. Draw a pedigree that matches this description.

 A man and his wife (referred to as the ‘grandparents’ from here on) have
three children – in birth order they are a girl and then two boys.
 The first child of the grandparents, the girl, is married and has three
children – in birth order they are a boy, a girl and then another boy.
 The middle child of the grandparents, a boy, is not married and has no
children.
 The third child of the grandparents, a boy, is himself married and has three
children – in birth order they are two boys and then a girl.
Use Roman numerals (I, II and III) to identify the generations. Use numbers
(1, 2, 3 etc) to number the individuals in each generation.

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2. This pedigree shows a family where some individuals have the inherited
disease albinism, a disease characterised by a lack of the skin pigment
melanin. They have very white skin, white or yellow hair and blue or red eyes.
There are two alleles – A (normal allele) or a (albinism allele).
The disease is inherited as an autosomal recessive disease. ‘Autosomal’ tells
you that the gene for albinism is not on one of the sex chromosomes and
therefore the sex of a person does not affect their risk of inheriting the
disease. ‘Recessive’ tells you that an individual will only get the disease if they
only have recessive alleles (aa). People whose genotypes are AA or Aa will
not have the disease.

a. What are the genotypes of these individuals? (Hint: The genotypes to

choose from here are AA, Aa or aa).
i. I.1

ii. III.4

iii. II.2

iv. II.3

v. II.1

b. If II.2 and II.3 have another child, what is the probability (likelihood) that
the child will have albinism? Show your working by using a Punnett
Square.

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3. Milli Vanilli syndrome is a real, imaginary disease characterised by an
individual’s lips moving as if they are speaking, but without making any sound.
Milli Vanilli syndrome is an autosomal dominant disease.
There are two alleles for this disease – M (the dominant, disease allele) and
m (the recessive, normal allele).
The disease is described as being autosomal because the gene is not on one
of the sex chromosomes and so the gender of the individual does not affect
their risk of inheriting the disease.
The disease is described as being a dominant disease because if you have at
least one copy of the dominant allele (MM or Mm) then you will have the
disease. People with the genotype mm will be normal.
a. Two parents who are both heterozygous for Milli Vanilli syndrome are
going to have a child. What is the probability that the child will have
Milli Vanilli syndrome? Show your working. (Hint – ‘heterozygous’
means that the two alleles are different).

b. A man who is homozygous for the dominant allele marries a woman

who is heterozygous for Milli Vanilli syndrome. What proportion of their
children are expected to have the syndrome?

c. Write the three possible genotypes for Milli Vanilli syndrome and next
to each write the corresponding phenotype (hint – phenotype is the
physical characteristic the person has).

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4. Duchenne muscular dystrophy, red-green colour blindness and haemophilia
are all X-linked recessive diseases. To say that the disease is ‘X-linked’ (also
called ‘sex-linked’) means that the gene for the disease is on the X-
chromosome. To say that the disease is recessive means that an individual
will only get the disease if they have only recessive allele/s. Males are much
more likely to get these diseases than females.
a. For Duchenne muscular dystrophy, there are two alleles – D (the
dominant, normal allele) and d (the recessive, Duchenne muscular
dystrophy disease). Complete this table showing the 5 possible
genotypes and the corresponding phenotypes. Some information has
already been filled in for you.

Genotypes Phenotypes

XDXd Carrier female

Female with Duchenne muscular dystrophy (in real

life this does not occur)

XdY Male with Duchenne muscular dystrophy

b. The pedigree below shows a family with Duchenne muscular

dystrophy.

State the genotypes of these individuals.

i. I.1

ii. I.2

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 iii. II.2

iv. II.5

c. If I.1 and I.2 have another child, what is the probability that the child will
have Duchenne muscular dystrophy?

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