Pedigrees

How do scientists trace hereditary diseases through a family history?

Why?
Imagine you want to learn about an inherited genetic trait present in your family. How would you find
out the chances of passing the trait to your children? To do this, genetic counselors often prepare a
pedigree, a chart that shows how a trait is inherited over several generations in a family.

Model 1 – Pedigree of Sickle Cell in Four Generations

1. What does the circle shape represent?

The circle represents a female.
2. What does the square shape represent?
The square shape represents a male
3. The pedigree represents the occurrence of sickle cell disease in a family. How are individuals with sickle
cell represented in the pedigree?
They are represented by being shaded shapes.

4. Determine how parents are shown in a pedigree. (Include a picture and a description)
In the pedigree, parents are shown with a marriage line connecting the two, the male and the female.

female Male

parents
Marriage line

5. Determine how children are shown in a pedigree. (Include a picture and a description)
Children are shown with an offspring line connecting them to their parents.
offspring line

Pedigrees Adapted from Pedigrees POGIL by Summers 2012

children
6. How many siblings does the patient have?
The patient has 5 siblings.

7. If you are the patient, what is the relationship of the people in Generation I to you?
They are my great grandparents.

8. Describe the phenotype of the patient.

affected male

9. Considering that the sickle cell allele is recessive, give a probable genotype for the patient.
ss

10. Based on your answers for 8 and 9, determine the phenotype and genotype of the patient’s parents.
Ss=mom
Ss=dad

11. Draw a pedigree below for the following information. Be sure to include the generation numbers!
A girl with a recessive genetic disease has two sisters and one brother. Her brother has the same disease, but
her sisters do not. Her mother has the disease, but her father does not.

12. How could a pedigree be used by a genetic counselor?

A pedigree could be used to determine the chances of a child inheriting traits and disorders that would
be unfavourable based on parental genetics.

Pedigrees Adapted from Pedigrees POGIL by Summers 2012

 Read This!
Scientists can use pedigrees to determine if a disease is caused by a dominant or recessive allele. Pedigrees are helpful
if family members want to know if they are carriers or if their children might get a genetic disease. Carriers are
individuals who are heterozygous for a genetic disease, but do not show symptoms of the disorder. Carriers can
pass the allele for the disease to their offspring.

Model 2 – Pedigree Case Studies

Case 1 Case 2 Case 3

Aa Aa

Aa aa AA
[ DOMINANT/RECESSIVE/UNKNOWN] [ DOMINANT/RECESSIVE/UNKNOWN] [ DOMINANT/RECESSIVE/UNKNOWN]

13. Why are some people known as “carriers”?

People are known as carriers because they are individuals who are heterozygous for a genetic disease, but do not
show symptoms of the disorder. Therefore, they can pass the allele for the disease to their offspring.
14. For Case # 1, use a guess-and-check method to determine whether the disease is dominant, recessive, or
unknown. Under each circle or square, write the genotypes for each person. Use “A” for dominant allele
and “a” for recessive allele. You may use “A-” if you cannot determine the whole genotype.
Explain the reasoning for your choice for Case 1 below.
The disease is recessive because there is an affected child even though none of the parents are affected.

15. For Case # 2, use a guess-and-check method to determine whether the disease is dominant, recessive, or
unknown. Write the genotypes for each person, as you did for Case #1.
Explain the reasoning for your choice for Case 2 below.
The disease is unknown because there are too affected parents but none of the kids are affected.

16. For Case # 3, use a guess-and-check method to determine whether the disease is dominant, recessive, or
unknown. Write the genotypes for each person, as you did for Case #1.
Explain the reasoning for your choice for Case 3 below.
The disease is dominant because there is an affected parent and 2 affected children.

Pedigrees Adapted from Pedigrees POGIL by Summers 2012

Model 3 – Pedigree of Hemophilia in a Royal Family

17. Identify the gender and phenotypes of Beatrice and Henry’s children.
3 boys & 1 girl
first boy: no hemophilia
Eugenie: no hemophilia
Leopold: hemophilia
18. Beatrice’s daughter, Eugenie, married Alfonso XIII of Spain. Identify the gender and phenotype of their
children.
6 total children: 4 boys & 2 girls
alfonso & Gonzalo: hemophilia
other 2 boys: no hemophilia
both girls: no hemophilia

19. Based on the model, is hemophilia a dominant or recessive condition? Explain your reasoning.
Hemophilia is a recessive trait because as can be seen hemophilia tends to skip generations. That can also be determined by the
genotypes. For example, both Maurice and Leopold are affected so they must have a genotype of "aa", however, their parent
aren't affected because they are heterozygous (Aa). Therefore, the rest of their children aren't affected meaning hat they either
are carriers (Aa) or not (AA).

Pedigrees Adapted from Pedigrees POGIL by Summers 2012

20. Using model 3, complete the following table:

# with hemophilia Total # of individuals % with hemophilia

Females 0 11 0%

Males 4 11 36.36%

21. Using the information in model 3 and your answers to prior questions, explain similarities and differences
between model 3 and model 1.
Similarities Differences

- four generations - less number of people

- recessive - model 1 has less people affected
- model 3 has more people affected
-

Read This!
The nuclei of human cells contain 22 pairs of autosomes and a pair of sex chromosomes. In females the two sex
chromosomes are XX and in males the sex chromosomes are XY. Unlike the autosomes, the X and Y chromosomes
are non-homologous with the X likely containing around 800-900 genes that code for proteins compared to the Y
chromosomes with only 50-60 genes. As a result, most sex-linked alleles are encoded on the X chromosome. Pedigree
charts can be analyzed to determine if the allele causing a condition is located on an autosome or the sex chromosome.

22. Using the information in Read This above and model 3, is the hemophilia allele located on an autosome
or sex chromosome? Explain your reasoning.
The hemopilia is located on a sex chromosome because the abnormal gene us responsible for hemophilia and is
carried on the X chromosome.

Pedigrees Adapted from Pedigrees POGIL by Summers 2012

Extension Questions
Imagine you are a genetic counselor and a couple has asked you to determine the probability of their child
developing a genetic disease, given their family history below.
Husband’s family history:
 The husband has the disease.
 The family history of the husband is unknown.

Wife’s family history:

 The wife does not have the disease.
 The wife has a sister without the disease and a brother with the disease.
 Both of the wife’s parents have the disease.
 The wife’s father is an only child; his father has the disease, but his mother does not.
 The wife’s mother has two brothers without the disease; her mother had the disease, but her father did not.

23. Translate the family history into a pedigree using standard notations and symbols. Hint: Work as a group to
do a rough draft on scratch paper first!
Aa aa aa Aa

Aa
aa aa Aa

aa Aa aa Aa

24. Circle one: This disease is [ DOMINANT / RECESSIVE ].

25. Circle one: This disease is [ AUTOSOMAL /SEX-LINKED ].

26. Explain how you know the disease allele is dominant or recessive. Use specific relationships (between
family members) to support your claim.
The disease allele is dominant because all the affected individuals have an affected parent or
parents. For example, both of the wife's parents have the disease and one of each of their parents
do too.

27. Explain how you know the disease allele is autosomal or sex-linked. Use specific relationships (between
family members) to support your claim.
The disease is autosomal because an affected son of non-founding parents has an affected father. The wife's
brother has the disease and both of the parents do too.

28. Add genotypes to each family member on your pedigree for #23. Use “A” for dominant allele and “a”
for recessive allele. You may use “A-” if you cannot determine the whole genotype.

Pedigrees Adapted from Pedigrees POGIL by Summers 2012

29. If the husband is heterozygous for the disease-causing allele, what is the probability that their child will
develop the disease? Include a Punnett Square and a genotypic and phenotypic ratio in your answer.
There is a 75% chance of the offspring developing the disease. AA aa
AA AA Aa

aa Aa aa

30. If the husband is homozygous for the disease-causing allele, what is the probability that their child will
develop the disease? Include a Punnett Square and a genotypic and phenotypic ratio in your answer.
There is a 50% chance of the offspring developing the disease. AA aa
AA AA Aa

aa Aa aa

31. Based on your analysis of the husband and wife’s family histories, what predications can you give the
couple about the probability of their future offspring in relation to the husband’s genetic disease?
Their future offspring will most likely get the disease since it runs in the family. Most of the child's maternal great-
grandparents had the disease and so do both of their maternal grandparents.

Pedigrees Adapted from Pedigrees POGIL by Summers 2012