BIO LOGY

UNIT 02 MUF 0032

GUIDED GROUP LEARNING ACTIVITY: PEDIGREE ANALYSIS

Manager: _________________________________ Reader: ___________________________________
Scribe: ____________________________________ Communicator: _____________________________

Introduction:
Punnett squares calculate the probability of particular genotypes and phenotypes appearing in the offspring of
specific parents. As a result of random chance, the expected ratios of the offspring’s genotypes and phenotypes
may not be realised unless the number of offspring produced is extremely high.
In mammals, and humans in particular, the number of offspring produced by a pair of parents is not
usually enough to observe the expected genotypic and phenotypic ratios. To further complicate matters, we
often do not know the genotype of the parents.
However, it can be useful to track heritable traits in a family. For example, there may be a history of a
genetic disorder in a family. By tracking the appearance of the disorder in family members, the genotypes of
some members can be determined, and the probability of the disorder appearing in the next generation
calculated.

1. In a pedigree chart, what does the circle shape represent?

Females

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2. In a pedigree chart, what does the square shape represent?
Males

3. If the above pedigree is showing the incidence of red hair in a family, how are individuals with red hair
represented?
Coloured circle for red haired females and coloured square for red haired males.

4. Locate individual III 2. Is this individual male or female? Does this individual have red hair?
The individual is male and does not have red hair.

5. Describe how parents are shown in a pedigree. Draw a picture to demonstrate this.

6. Describe how children are shown in a pedigree. Draw a picture to demonstrate this.
SEE ABOVE DIAGRAM

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7. How many brothers and sisters does individual II 1 have?

8. Children are shown on a pedigree in the order in which they are born. Explain why twins are shown with a
branched line. Draw a picture to help demonstrate this.

Line represented offspring born at

the same time indicating twins.

9. Predict how non-identical twins would be shown. Draw a picture to show this.

No line in between indicates the offspring is

non-identical twins.

10. What is the relationship between

a. individuals II 3 and II 4?
Partners

b. individuals IV 1 and III 1?

Son (IV 1) & Mother (III-1)

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 c. individuals III 2 and III 3?
Brothers

d. individuals I 2 and IV 3?
I 2 is great-grandmother of the IV 3. Great granddaughter

11. Locate individual III 3. If red hair is an autosomal recessive trait, suggest the genotype for this individual.
aa(Homozygote recessive)

12. Determine the phenotypes and genotypes of the parents of individual III 3.
Father: Phenotype (Red hair) and genotype (aa).
Mother: Phenotype (Not red hair) and genotype (Aa)

13. Describe how you worked out the answer to Question 12.
This pedigree is showing the incidence of red hair. When II 3 was mating with II 4 they produces
III 3 who has shaded square shaded which means he is a homozygote recessive（aa）and
appearance red hair.

14. a. What are the possible genotypes of individual II 1?

AA or Aa.

b. Explain why we can’t know individual II 1’s genotype for certain.

Parents must be heterozygous (Aa) because one of the siblings is homozygous recessive trait
and should have received one recessive allele from the parents.

15. A carrier is an individual who is heterozygous for the trait, but does not show the trait in their phenotype.
a. True
b. Identify three carriers from the pedigree above.
I1, I2, II4, III1 or III2.

16. Draw a pedigree for the information given below. Make sure you:
• Include a key and the generation numbers
• Label each individual with their name, if known.
(Hint: you may like to draw a rough copy of your pedigree on a spare piece of paper with plenty of space
for corrections before drawing the final version here.)
Wizards and witches are magical beings. People who are not magical are called muggles. Harry Potter is a
wizard. He does not have any siblings. His father, James, was a wizard and his mother, Lily, was a witch. Lily
has a muggle sister, Petunia, and both their parents were also muggles. Petunia married Vernon, a muggle,
and they have one muggle-son, Dudley. Both of James’s parents are magical.

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A pedigree can be used to determine the pattern of inheritance of a particular trait. That is, whether the trait is
caused by a dominant or recessive allele and whether the trait is sex-linked or autosomal. Knowing the pattern
of inheritance for a trait enables geneticists to calculate the probability of a new child having the trait.

Figure 2: Pedigree analysis 1

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 a.

17. Use ‘trial-and-error’ to determine the pattern of inheritance for the pedigree above. Using “A” for the
dominant allele and “a” for the recessive allele, write a genotype next to each circle and square. If
you can’t determine the exact genotype, use “A–”.

b. Is the trait shown in pedigree 1 dominant or recessive? What evidence is there to support your
conclusion? Refer to specific family members.
It is recessive and high possibility for unaffected parents to have children with trait if they are
carriers.

18. a. Use ‘trial-and-error’ to determine the pattern of inheritance for the pedigree above. Using “A”
for the dominant allele and “a” for the recessive allele, write a genotype next to each circle and
square. If you can’t determine the exact genotype, use “A–”.

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a.

b. Is the trait shown in pedigree 2 dominant or recessive? What evidence is there to support your
conclusion? Refer to specific family members.
Autosomal dominant inheritance, because every affected individuals have 1 affected parents.

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 a.

19. Assuming the trait shown in pedigree 3 is dominant, write the genotypes for all the individuals. Use
“A” for the dominant allele and “a” for the recessive allele. If you can’t determine the exact genotype,
use “A–”.
b. Now assume the trait shown in pedigree 3 is recessive. Write the new genotypes for all the individuals
using “A” and “a”. Put these genotypes in a circle to distinguish them from the genotypes you
determined assuming the trait was dominant.
c. What further information would you need (additional individuals) to confirm that the trait is
dominant?
When one parent has the trait and the child does or does not, it is dominant.

d. What further information would you need (additional individuals) to confirm that the trait is
recessive?
When both parents do not have the trait but the child has the trait, then it is refer to as
recessive.

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 a.

The pedigree in Figure 5 is of part of the British royal family and shows the incidence of haemophilia.
Haemophilia is a genetic disorder that affects blood clotting factors. Without normal clotting factors, injuries
take a very long time to stop bleeding and it is possible for the individual to bleed to death.
20. Identify the first person in the family to have haemophilia, using their generation and individual
number. State their name as well, if known.
III 6. Leopold, Duke of Albany.

21. Identify all the carriers of haemophilia.

II 2 (Victoria, Queen of England). III 5 (Princess Alice). III 9 (Princess Beatrice). IV 4 (Alix). IV 8 (Irene).
IV 11 (Eugenie).

b. What evidence is there that they are carriers? Refer to specific family members.
Their chart’s partially shaded. Take Victoria Queen of England (II 2) for example. She is partially
shaded, and her male son, III 2 (Edward VII, King of England), does not have Haemophilia.

c. What do all the carriers have in common, other than that they are heterozygous for the disease?
They are all female.

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 a.

22. Based on the information in the haemophilia pedigree, is the condition dominant or recessive? What
evidence is there to support your conclusion? Refer to specific family members.
Recessive. Females with one copy of the Haemophilic allele (Recessive) does not exhibit Haemophilia as
the normal dominant alleles masks the effect of the recessive Haemophilic allele.

23. Using the information in the haemophilia pedigree, complete the following table.

# with haemophilia Total # of individuals % with haemophilia

Males
7 19 36.8% (3sf)
Females
0 19 0%

24. Using the information in the above table and that from Pedigree analysis 1, describe the similarities
and differences between the two pedigrees.

Pedigree analysis 1 Both Haemophilia pedigree

1. No partially shaded 1. Has fully shaded males and 1. Have partially shaded
individuals. females individuals
2. Only 3 generations 2. Has 5 generations
3. 12 individuals in total 2. No twins 3. 38 individuals in total

Human cells contain 22 pairs of autosomes and 1 pair of sex chromosomes. The X chromosome is the longest
chromosome in the human genome and contains around 800 genes. The Y chromosome is the shortest and
only contains around 70 genes.
Normal females have two X chromosomes, while males have an X and a Y chromosome. Males are said
to be hemizygous for the traits on the X chromosome because they only have one copy of them. This means
that whatever allele is present on the X chromosome, it will be expressed in males.

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25. Using all the above information, decide if the haemophilia gene is located on an autosome or on the X
chromosome. Explain your reasoning.
X chromosome. All males with the gene has Haemophilia, none of them are carriers as they only have 1 copy
of X. So it always gets expressed (nothing to mask its effects). Females can be carriers as they have 2 copies
of X, so they can have a normal dominant allele to mask the recessive Haemophilic allele.

26. Determine the genotypes for the following individuals. Use “H” and “h” for an autosomal trait or “XH”,
“Xh” and “Y” for an X-linked trait.
H h h
a. II 2: ______X X ______ c. V 5: ___X Y
h _____
b. IV 10: _____X Y_______
d. III 3: XHXh
______
Challenge
Imagine that you are a genetic counsellor. A couple, Jack and Jill, have a history of a genetic disease in the
family. They are planning to have children and have come to discuss the probability of their child developing
the genetic disease.

Jack’s family history

• Jack has the disease.
• Jack was adopted and his genetic family history is unknown.

Jill’s family history

• Jill does not have the disease.
• Jill has a brother and a sister. Neither have the disease.
• Both of Jill’s parents have the disease.

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• Jill’s father is an only child; his father has the disease but his mother does not.
• Jill’s mother has two brothers without the disease; her mother has the disease but her father does not.
27. Use the above information to draw a pedigree. (Hint: you may like to draw a rough copy of your pedigree on
a spare piece of paper with plenty of space for corrections before drawing the final.)

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28. Determine the pattern of inheritance for this disease. Is it dominant or recessive? Is it autosomal or X-linked?
What evidence supports your decision? Refer to specific family members.
Autosomal dominant. Every affected individual has one affected parent, therefore its a dominant trait.
Whereas, autosomal because father II-1 has the trait and does not pass to the daughters. This is only possible
if he is heterozygous for the trait.

29. Add genotypes to each individual in your pedigree using appropriate symbols. Include a key for your symbols.
30. Use a Punnett square to calculate the probability of Jack and Jill’s child having the disease.

Expected genotypic ratio: ___________________________________________________________

Expected phenotypic ratio: __________________________________________________________

31. What is a genetic counsellor?

32. As a genetic counsellor, what would you tell Jack and Jill about their future offspring in relation to the

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genetic disease?

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