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? female

2. What does the square shape represent? 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 black

4. Determine how parents are shown in a pedigree. (Include a picture and a description)

they are shown by having a female and male connected by a line

5. Determine how children are shown in a pedigree. (Include a picture and a description)
they are the lines connected below the parents

Pedigrees Adapted from Pedigrees POGIL by Summers 2012

 6. How many siblings does the patient have? 6

7. If you are the patient, what is the relationship of the people in Generation I to you? greatgrandparents

8. Describe the phenotype of the patient. they have sickle cells

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

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

phenotype=sickle cells ,Genotype=homozygous recessive

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?

it can show if you are going to pass down some type of disease to your offspring

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

[ DOMINANT/RECESSIVE/UNKNOWN] [ DOMINANT/RECESSIVE/UNKNOWN] [ DOMINANT/RECESSIVE/UNKNOWN]

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

because they carry the recessive trait for something

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 gene is recessive because one out of three show the trait and the parents should be heterozygous

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.

not enough information

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.

homolozgous reccesive gene and a heterozygous so this would be a recessive gene

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.

18. Beatrice’s daughter, Eugenie, married Alfonso XIII of Spain. Identify the gender and phenotype of their
children.

4 male 2 female 2 male with the disorder

19. Based on the model, is hemophilia a dominant or recessive condition? Explain your reasoning.

recessive because the females don't have it

Pedigrees Adapted from Pedigrees POGIL by Summers 2012

20. Using model 3, complete the following table:

# with hemophilia Total # of individuals % with hemophilia

Females none 7 0

Males 4 11 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

they show that the trait is rarely passed down

one is autosomal while the other is based on a sex chromosome

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.

in the sex chromosomes because the men mainly have the disorder

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!

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.

dominate because both male and female get it

27. Explain how you know the disease allele is autosomal or sex-linked. Use specific relationships (between
family members) to support your claim.
sex linked because both male and female are affected

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 would be a higher chance

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 will either be a really low or really high chance it depends on if its recessive or not

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?

there offspring will most likely have the disease there is a 75 percent chance

Pedigrees Adapted from Pedigrees POGIL by Summers 2012