Name: __________________

Accelerated Biology
Ch. 12 Case Studies
Modified from resources available at ​http://serendip.brynmawr.edu/exchange/bioactivities​.
Pedigrees

A ​pedigree​ is a way to visually track the inheritance of a trait or genetic condition through a
family. Think of it like a modified family tree.

How to read a pedigree:

Consider the following pedigree.

1. What relationship do individuals 3 and 5 have?

2. How many ​daughters​ did individuals 1 and 2 have?

3. How many individuals in this pedigree are “affected,” meaning they have the condition of
interest?

1
Pedigrees are constructed based on phenotypes, but it is often possible to infer the genotype
for many of the individuals. You can even deduce whether a particular condition is dominant or
recessive.

The pedigree you just worked with (reproduced below) shows the inheritance of a condition
called ​achondroplasia​ (ay-kon-druh-​play​-zhuh), a form of dwarfism. Dark circles or squares
represent individuals with achondroplasia.

4. Look at individuals 5 and 6 and their children.

a) Based on this family, is the allele that causes achondroplasia recessive or dominant?
How do you know?

b) What are the genotypes of individuals 5 and 6? Include a Punnett square for this cross in
your answer. Use ​D​ to represent the dominant allele and ​d​ to represent the recessive
allele. Write the genotypes of 5 and 6 underneath their symbols on the pedigree.

2
5. Write the genotypes of 2, 3 and 7 in the pedigree. How do you know their genotypes?

6. Determine the genotypes of 1 and 4. Show a Punnett square and explain your reasoning.
Write the genotypes of 1 and 4 in the pedigree.

7. Can you figure out the genotype for the two affected offspring of individuals 5 and 6? Justify
your answer.

8. Based on the frequency of dwarfs among the people you have seen in your lifetime, do you
think that the allele for achondroplasia is common or rare in the population? Briefly explain
your reasoning.

9. Considering your answers to number 4 and 8, is the dominant allele necessarily the most
common allele in the population? Explain.

10. Dominant alleles for ​lethal ​conditions are much rarer than recessive alleles for lethal
diseases. Why?

11. How many of the affected individuals were known to be homozygous dominant? ____

3
Achondroplasia, Part 2

Consider a different family: Ellie and Sam are two normal height individuals that give birth to a
child with achondroplasia. As a reminder...
● DD​ individual dies before or shortly after birth.
● Dd​ individual is very short and has somewhat elevated early mortality (5-10%).
● dd​ individual has normal height and mortality risk.

1. Both Ellie and Sam have normal height, so their genotype is ______.

2. Complete a Punnett square for Ellie and Sam.

3. The child's genotype is ______

4. How might parents with Ellie and Sam's genotype have a baby with their child's genotype?

4
Sickle Cell Anemia

Most people produce a protein called hemoglobin A that helps carry oxygen on red blood cells.
Sickle cell anemia is a condition in which the sufferer produces hemoglobin S instead, which
distort the cell’s shape and therefore reduce its ability to perform its function. They cannot
carry oxygen as well and end up clogging up capillaries, the bodies’ tiniest blood vessels. This
can lead to potentially lethal health issues. Below is a pedigree for sickle cell anemia.

1. Is sickle cell a dominant or recessive condition? How do you know?

2. Write in the genotypes for individuals 5 and 6. Use the letter H/h for the alleles.

3. What must be the genotypes for individuals, 1, 2, 3, and 4? Complete a Punnett square for
either one of these matings to support your claim.

4. ​Individuals like 1, 2, 3, and 4 are known as carriers: they do not suffer from the condition
themselves, but they carry an allele for it that can be passed down to future offspring. ​Another
way of thinking about this is that a carrier is someone whose genotype for a recessive
condition is ______________________ (​homozygous dominant / heterozygous / homozygous
recessive​). ​Known carriers can be half-shaded in a pedigree. Take a moment to do so; ​draw a
diagonal line through their circle or square and shade the bottom half​.

5
Scientists have noticed that that the distribution of the sickle cell allele is closely correlated
with the historic distribution of malaria cases. In fact, about 80% of sickle cell cases are thought
to occur in sub-saharan Africa.

Sickle Cell Trait Distribution Historic Distribution of Malaria

Though people with sickle cell ​disease​ are at an evolutionary disadvantage, those that are
carriers​ seem to be resistant to invasion by the malaria-causing parasite that is transmitted by
the ​Anophles​ mosquito.

5. Do your best to explain, from an evolutionary perspective, why sickle cell is so common in
areas prone to malaria.

The mutation responsible for the sickle-cell allele involves a

gene on chromosome 11. The normal sequence involves the
sequence C T C on the DNA template strand. In the mutated
sequence, the T becomes an A.

6. The normal allele codes for the amino acid

_______________ at this location, while the mutated allele
codes for the amino acid ________________.

7. What type of mutation is this?

6
Color Blindness

Color blindness is another recessive genetic condition. In the most common form of color
blindness, individuals have a hard time distinguishing reds from greens. Like most other
recessive genetic conditions, having a single “good” allele is sufficient to produce the proteins
needed for normal color vision; it can “compensate” for the “bad” allele.

Color-blindness is different than autosomal diseases like sickle cell anemia because it is carried
on the X chromosome. There is no homologous gene on the Y chromosome. For this reason, it is
known as a sex-linked disease; specifically an X-linked disease.

1. What set of sex chromosomes does a male have? ______ A female? ______

We use the notation X​B​ to denote the allele for normal color vision, and X​b​ to denote the allele
for color blindness.

2. Complete the following table. ​Remember, you need at least one normal allele to have
normal color vision.
Genotype Sex Vision
(M or F) Color-blind or normal?

X​B​ X​B

X​B​ X​b

X​b​ X​b

X​B​ Y

X​b ​Y

3. If a couple had a male child, which chromosome (X or Y) did the father pass on? ____
4. How many “bad” alleles does a male need to result in color blindness? ____
5. How many “bad” alleles does a female need to result in color blindness? ____

6. Diagram the cross between a female carrier and a normal-vision male. ​(You do not need to
include genotypic and phenotypic ratios).

7
 A) What are the odds that if they have a daughter, she will be color blind? ______
B) What are the odds their if they have a son, he will be color blind? ______
C) What are the odds that if they have a daughter, she will be a carrier? ______
D) Can a male be a “carrier” for color-blindness? Why or why not?

7. ​The prevalence of color blindness in men is about 8 percent. In contrast, only about 0.5% of
women are color-blind.​ How can your knowledge of color blindness inheritance explain this?

Consider the pedigree at the right.

8.​ Remember the statistic given in

#7.​ Before starting to fill in the
genotypes on the pedigree, what is
one hint that you are looking at a
pedigree for an X-linked disorder?

9. What must be the genotype of the affected individuals above?

10. What must be the genotype for any ​unaffected​ males? ______ Where must their normal
X allele have come from?

11. What must be the genotype for individuals II-2 and II-5 on the pedigree?

12. Do you have enough information to figure out the genotype of the mother in generation
I? If not, what could new information could confirm her genotype?

8
Down’s Syndrome

Ricardo and Tasha are a couple in their late thirties that decide to have a child. Their child is
born with Down’s Syndrome. ​Down’s Syndrome​, like achondroplasia, is another example of a
disorder in which the vast majority of cases are not inherited. In this disorder, also known as
trisomy 21​, affected individuals have three copies of chromosome 21 instead of the normal
two.

To understand how this might have happened, we will imagine simplified sperm and egg cells
that contain only chromosome 21.

The figure below shows ​Ricardo’s In ​Tasha’s​ oogonia, something goes wrong
spermatogonia undergoing normal meiotic during meiosis.
division to produce 4 healthy gametes.

1. In Tasha’s case, the __________________ __________________ failed to separate during

Meiosis ____. This resulted in half of Tasha’s gametes getting two copies of chromosome 21,
and the other two gametes getting no copies of chromosome 21.

A) If one of these first two gametes fuses with one of Ricardo’s gametes, the resulting
zygote will have ____ copy/copies of chromosome 21.

B) If one of Tasha’s last two gametes fuses with one of Ricardo’s gametes, the resulting
zygote will have ____ copy/copies of chromosome 21.

9
2. In which case, A or B, will the child be born with Down’s syndrome?

3. How many ​total​ chromosomes will a child with Down’s syndrome have in each of his or her
cells?

The error you noted in question 1 is known as ​nondisjunction​. There is actually another way
that nondisjunction can occur.

4. In this case, the __________________ __________________ failed to separate during

Meiosis ___.

5. What is another process we have learned about where sister chromatids are supposed to
separate?

6. If nondisjunction occurs in the process you identified in question 4, do you think this will
also lead to Down’s syndrome? Why or why not?

10