Pedigrees Study Area 2: Genetics

Topic 4 - Patterns of Inheritance

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Key Symbols

Female without trait

UNSHADED

Female with trait

SHADED

Male without trait

UNSHADED

Male with trait

SHADED
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Example of a Pedigree

Parents with 3 children – a girl, a boy and then a girl.

(from left to right)
 Example of a Pedigree
- including a trait

Albinism – father and third child are albino (shaded)

Autosomal and X –linked genes

Understanding the following terms is essential:

• Autosomal – gene is on a chromosome that is not a

sex chromosome (chromosome is called an
autosome)
• X-linked – gene is on the X chromosome.

Remember females have two X chromosomes and

males have one X chromosome
 Worksheet
Questions and Answers

We will through the

pedigree worksheet
together.
This presentation
will provide answers.

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Question 1

Construct the pedigree of a family in which there

are four children.
They were born in the following order:

girl, girl, boy and boy.

The oldest daughter in the family married a man

and had a boy, then a girl.
Question 1 - Answer
 Question 2
Two parents have four children.
The first 2 children born are daughters and the
second 2 born are sons.

Some members of the family have a particular

genetic trait (shaded).
The members of the family that have the trait are
the mother and the two sons.

Draw a pedigree that shows this.

Question 2 - Answer
Generation

II
Question 3
Albinism is an autosomal recessive trait (shaded).
Is the following pedigree possible for the trait?
Generation
I

II
Question 3 - continued
Assign allele symbols

A – normal (dominant)
a – albino (recessive) (shaded)

https://commons.wikimedia.org/wiki/File:Red_(albino)_eye.png

Albinism is an genetic condition that removes or

reduces the amount of melanin pigment formed in the
skin, hair and eyes
Question 3 - Answer
Generation
aa aa
1 2

II 1 2

aa ?
NOT POSSIBLE – son II – 2 must inherit at least
one dominant A from a parent but parents have
none to pass on.
Question 4
Cystic fibrosis is an autosomal recessive trait (shaded).
Is the following pedigree possible for the trait?
1 2
Generation
I

2
II 1
Question 4 - continued
Assign allele symbols

A – normal (dominant)
a – cystic fibrosis (recessive) (shaded)

Cystic Fibrosis is genetic

condition that affects
the production of saliva,
sweat, tears and mucus.

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 Question 4 - Answer
Generation
Aa Aa
1 2
I

II 2
1

Aa or AA aa
POSSIBLE – however both parents must be
heterozygous (Aa) as each must pass on a recessive
allele to son II - 2
Question 5
Dimpled chin is an autosomal dominant trait (shaded).
Is the following pedigree possible for the trait?
1 2
Generation
I

1 2
II
Question 5 - continued
Assign allele symbols

A – dimpled chin (dominant) (shaded)

a – non dimpled chin (recessive)

A dimpled chin is a genetic trait.

 Question 5 - Answer
Generation
Aa aa
1 2
I

II 1 2

Aa aa

POSSIBLE – Mother I – 1 must be

heterozygous and daughter II – 1 must be
heterozygous.
 Question 6
Woolly hair is an autosomal dominant trait (shaded).
Is the following pedigree possible for the trait? Explain.
1 2
Generation
I

1 2
II
 Question 6 - continued
Assign allele symbols

A – Woolly hair (dominant) (shaded)

a – normal hair (recessive)

https://commons.wikimedia.org/wiki/File:Naxos_Disease_Hair_01.jpg

Woolly hair is hair with a tight curl, which is

sometimes frizzy. It is genetically different to
normal curly hair.
 Question 6 - Answer
Generation aa aa
1 2
I

II 1 2

Aa? or AA? aa
NOT POSSIBLE – daughter II – 1 must inherit at
least one dominant A from a parent but parents
have none to pass on.
Question 7
Colour blindness is an X-linked recessive trait (shaded).
Is the following pedigree possible for the trait? Explain.
1 2
Generation
I

1 2
II
Question 7 - continued

Assign allele symbols

XA – normal (dominant)
Xa – colour blind (recessive) (shaded)

Red green colour blindness

is a genetic trait.

https://commons.wikimedia.org/wiki/File:Ampel-Goettingen-23b.jpg
Question 7 - Answer
Generation
XaXa XAY
1 2
I

II 2
1

XAXa ?
NOT POSSIBLE – son II – 2 must inherit XA from
mother I - 1 but she has only Xa to pass on
Question 8
Colour blindness is an X-linked recessive trait (shaded).
Is the following pedigree possible for the trait? Explain.
1 2
Generation
I

1 2
II
Question 8 - continued

Assign allele symbols

XA – normal (dominant)
Xa – colour blind (recessive) (shaded)
 Question 8 - Answer
Generation
XAXa XAY
1 2
I

II 2
1

XAXA or XAXa XaY

POSSIBLE – mother I – 1 must be heterozygous so
she can pass on Xa to son II - 2
Question 9
Rickets is an X-linked dominant trait (shaded). Is the
following pedigree possible for the trait? Explain.
Generation 1 2

1 2
II
Question 9 - continued
Assign allele symbols

XA – rickets (dominant) (shaded)

Xa – normal (recessive)

Hereditary rickets is a condition

that results in bones becoming
weak and soft. This can particularly
affect the development of legs in
children.
https://commons.wikimedia.org/wiki/File:Rachitis,_stages_of_development_for_children_Wellcome_M0003399.jpg
 Question 9 - Answer
Generation
XAXa XaY
1 2
I

II 2
1

XaXa XAY
POSSIBLE – mother 1 – 1 must be heterozygous so
she can pass on Xa to daughter 11 – 1
Question 10
Rickets is an X-linked dominant trait (shaded). Is the
following pedigree possible for the trait? Explain.
Generation 1 2
I

1 2
II
Question 10 - continued
Assign allele symbols

XA – rickets (dominant) (shaded)

Xa – normal (recessive)
 Question 10 - Answer
Generation
XaXa XAY
1 2
I

II 2
1

? XaY
NOT POSSIBLE – father 1 – 2 must pass on XA to
daughter 11 – 1 but she is homozygous recessive
Question 11
In humans, the length of eyelashes is an autosomal
trait
• long eyelashes are dominant
• short are recessive
A woman has long lashed but her father had short
lashes .
She marries a man with short eyelashes
(a) Construct a pedigree (shade for short eyelashes)
(b) What is her genotype?
(c) What is the probability of her children having long
eyelashes? (Use a punnet square)
Question 11 - continued

Assign allele symbols

A – long eyelashes (dominant)

a – short eyelashes (recessive) (shaded)

Long eyelashes are dominant

to short eyelashes.

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 Question 11 - Answers
(a) Construct a pedigree (shade for short eyelashes)
(b) What is her genotype?
Generation AA or Aa aa Father
1 2
I

II 1 2

Woman Aa aa
 Question 11 - Answers
(c) What is the probability of her children having long
eyelashes? (Use a Punnett square)
Woman Aa
Gametes ½ A ½a
Husband
aa ½ a ¼ Aa ¼ aa
½a ¼ Aa ¼ aa

Genotype: ½ Aa ½ aa
Phenotype: ½ long ½ short
The probability of children having long is 1/2
Question 12
Study the following pedigree.
The individuals with a particular trait are shaded.
The trait is autosomal.
(a) Is the trait autosomal dominant or autosomal
recessive?
(b) Explain why the trait cannot be X-linked recessive.
Question 12 (a) Let the shaded
be autosomal
Generation dominant.
1 2
Shaded: AA
I or Aa
Unshaded: aa

1 2 3 4
II

III 1 2
Question 12 - Answer
Let the shaded be autosomal dominant
Autosomal dominant is
Generation 1 2 not possible because
parents II – 3 and II – 4
I do not have any
Aa aa dominant alleles to pass
on to daughter III - 1

1 2 3 4
II
aa Aa aa aa

III 1 2

Not possible ? aa
Question 12 (a) Let the shaded
be autosomal
Generation recessive.
1 2
Shaded: aa
I Unshaded: AA
or Aa

1 2 3 4
II

III 1 2
Question 12 (a) - Answer
Let the shaded be autosomal recessive
Generation 1 2
I
aa Aa

II 1 2 3 4

Aa aa Aa Aa

III 1 2

Possible aa AA or Aa
Question 12 (b) Explain why
the trait
Generation 1 2 cannot be
I X-linked
recessive
1 2 3 4
II

III 1 2
Question 12(b) - Answer
Explain why the trait cannot be X-linked recessive
Generation 1 2 X – linked recessive is
I not possible because
mother I–1 has only
XaXa recessive alleles to pass
on to son II - 1

II 1 2 3 4
X – linked
recessive is not
Not Possible XAY possible
because father
III 1 2 II – 4 has only a
dominant
allele to pass
Not Possible ? on to daughter
III - 1
Question 13
In dogs the following trait is autosomal
• drooping ears (d) are recessive
• erect ears (D) are dominant (autosomal).

A drooping-eared female dog is mated to an erect-

eared male dog whose
The father of the male dog had drooping ears.
What fraction of the offspring would you expect to
have erect ears?
(Construct a pedigree and shade for recessive - then
use a Punnet square)
Question 13 - Continued

Assign allele symbols

D – Erect ears (dominant)

d – drooping ears (recessive) (shaded)

erect ears drooping ears

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Question 13 - Answer
Generation

I
dd DD or Dd

II
dd Dd

III Probability of offspring

Question 13 - Answer

Droop eared dd
Gametes ½ d ½d
Erect
eared ½D ¼ Dd ¼ Dd
Dd ½D ¼ dd ¼ dd
Genotype: ½ Dd ½ dd
Phenotype: ½ erect ½ drooping
The probability of erect ears in offspring is 1/2
 Question 14
The following pedigree is for albinism (autosomal recessive
and shaded) 1 2
Generation
I

1 2 3 4 5
II

1 2 3
III
Question 14 (a)
(a) What are the genotypes of parents 1 - 1 and
1 - 2?

Assign allele symbols

A – normal (dominant)
a – albino (recessive) (shaded)
 Autosomal
Question 14(a) A – normal (dominant)
a – albino (recessive) (shaded)

1 2
Generation
I

1 2 3 4 5
II

1 2 3
III
Question 14 (a)

Generation 1 2
I
Aa Aa

1 2 3 4 5
II
Aa aa aa AA or Aa AA or Aa
1 2 3
III Parents I - 1 and I - 2 must be
heterozygous (Aa) as each must
pass on a recessive allele to
aa Aa Aa children II – 2 and III - 3
Question 14 (b)
If individual III-3 partners a woman who is
heterozygous for the condition, what is the
probability that any of their children will be
albino?
 Question 14 (b)

111 - 3 is Aa

Parent 1 Aa
Gametes ½ A ½a
Parent 2
Aa ½A ¼ AA ¼ Aa
½a ¼ Aa ¼ aa
Genotype: ¼ AA ½ Aa ¼ aa
Phenotype: ¾ normal ¼ albino
The probability of albino is ¼
Question 15
The next pedigree shows the inheritance of a
type of rickets which is resistant to Vitamin D
therapy.
The disease is X-linked.
The disease is shaded.
 Question 15
Generation
1 2
I

1 2 3 4 5 6
II

III 1 2
Question 15(a)
(a) Enter the genotypes for X-linked dominant on the
pedigree

Assign allele symbols

XA – Rickets (dominant) (shaded)

Xa – Normal (recessive)
 Question 15 (a)
Generation
1 2
I

1 2 3 4 5 6
II

III 1 2
XA – Rickets (dominant)
(shaded)
Xa – Normal (recessive)
Question 15(a) - Answer
Generation
1 2
I
XAY XaXa

1 4
II 2 3 5 6

XaY XAXa XAXa XaY XaY XAXa

III 1 2
XA – Rickets (dominant)
(shaded)
XAY XaXa Xa – Normal (recessive)
Question 15 (b)
Is it possible that parents II -1 and II – 2 could have a
son who does not have rickets? (Use a Punnett
square)
Question 15(b) - continued

Parent 1 XaY
Gametes ½ Xa ½Y
Parent 2
½ XA ¼ XAXa ¼ XAY
XAXa
½ Xa ¼ XaXa ¼ XaY
Genotype (males only): ½ XAY ½ XaY
Phenotype (males only): ½ rickets ½ normal
Genotype (females only): ½ XAXa ½ XaXa
Phenotype (females only): ½ rickets ½ normal
The probability that she will have a son who is not
affected is ½ (we consider only sons)
Question 16
In the following pedigree:

• dogs with black fur are shown in black

(shaded).
• dogs with brown fur are shown in white
(unshaded).
Question 16 - continued
Generation
1 2 3 4
I

II 1 2 3 4 5 6

Black dogs – shaded Brown dogs unshaded

Question 16 (a)

(a) Black fur is an autosomal dominant trait

Explain why black fur cannot be an

X-linked dominant trait
Question 16 (a) Make black fur
X-linked dominant

Generation
1 2 3 4
I

II 1 2 3 4 5 6

Black dogs – shaded Brown dogs unshaded

Question 16(a) - Answer Make black fur
X-linked dominant
Generation
1 2 3 4
I
XaY XaXa XAY XaXa

II 1 2 3 4 5 6

XaY XaXa ? XAXa XAXa XAY

NOT POSSIBLE
Mother 1-4 can only pass on a recessive allele to
her son II-3 but he has the dominant phenotype.
Question 16(b)

(b) Complete the pedigree showing that

black fur is an autosomal dominant
inheritance
Question 16(b) - cont Make black
fur autosomal
dominant
Generation
1 2 3 4
I

II 1 2 3 4 5 6

Black dogs – shaded Brown dogs unshaded

Question 16(b) - Answer

Generation
1 2 3 4
I
aa aa AA or Aa aa

II 1 2 3 4 5 6

aa aa Aa Aa Aa Aa

Black dogs – shaded Brown dogs unshaded

Question 16(c)

(b) What is the probability of a cross

between II - 2 and II - 3 producing dogs with
brown coats?
Question 16(c) - Answer
(c) What is the probability of a cross between II - 2 and
II - 3 producing dogs with brown coats?
II-2 is aa II-3 is Aa
aa
Gametes ½a ½a
Aa ½A ¼ Aa ¼ Aa
black black
½a ¼ aa ¼ aa
brown brown

The probability of 11-2 and 11-3 producing a

brown offspring is ½ (50%)
 Question 17
Humans may suffer from alkaptonuria which is a rare
inherited condition.
The urine produced by people afflicted with this
disease is brown, turning black after exposure to the
air.
Alkaptonuria is an autosomal recessive trait.
The following pedigree shows a family where
alkaptonuria occurs.
Those with the disease are shown by shading.
 Question 17 - continued

Explain why this condition could not be X-linked recessive.

Question 17 - Continued

Explain why this condition could not be X-linked

recessive.