Name: ______________________________ Period: ___________ Date: _______________

2.8 Mutations
Activity #1: Do NOW K-W-L Chart
K= Know​: L= Learned:
What I know about mutations is... 2 things I learned from the ​Brain Pop
Mutations video​ ​ are...

1.___________________________________________ 1.____________________________________
_____________________________________________ ______________________________________

2.___________________________________________ 2.____________________________________
_____________________________________________ ______________________________________

 
Activity #2: Read It! “​ Mutations” Reading
​The whole human family is one species with CATCH Annotate CFS
the same genes. A mutation is a change in the DNA ❏ Highlight one keypoint from
each paragraph.
of an individual. ​Mutations​ create slightly different
❏ Circle 1-2 unknown/vocab
versions of the same genes. These small words from each paragraph
differences in DNA sequence make every individual ❏ Ask 1 question OR make 1
connection
unique. Mutations are responsible for the variation ❏ Answer ​Thinking Questions
we see in human hair color, skin color, height,
1. ​What is a mutation?
shape, behavior, and susceptibility to disease.
______________________________
Individuals in other species vary too, in both physical appearance and behavior.
______________________________
​ utations are responsible for​…
2. ​ M
Genetic variation is useful because it helps populations change over time. ______________________________
Variations that help an organism survive and reproduce are passed on to the next ______________________________
generation. Variations that hinder survival and reproduction are eliminated from ______________________________
the population. This process of natural selection can lead to significant changes in 3. ​Explain what is meant by,
“Variations that help an organism
the appearance, behavior, or physiology of individuals in a population, in just a few survive and reproduce are passed on
generations. to the next generation.”
______________________________
Mutations are essential to evolution; they are the raw material of genetic
______________________________
variation. Without mutation, evolution could not occur.
__________________________​____

 
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 Name: ______________________________ Period: ___________ Date: _______________
Activity #3: Vocabulary Words 

mutation:  Amino acid:  protein: 

Label the following image:

Amino Acids Reference Chart 

Alanine = Ala Glutamic Acid = Glu Leucine = Leu Serine = Ser

Arginine = Arg Glutamine = Gln Lysine = Lys Threonine = Thr

Asparagine = Asn Glycine = Gly Methionine = Met Tryptophan = Trp

Aspartic Acid = Asp Histidine = His Phenylalanine = Phe Tyrosine = Tyr

Cysteine = Cys Isoleucine = Ile Proline = Pro Valine = Val

Investigation Question #1: ​What effect do mutations have on proteins? 

 
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 Name: ______________________________ Period: ___________ Date: _______________
Activity #4: Observing Mutations in the SIM 
Data Table #1 
Protein Leu Ile Gly Ser Glu Pro Met Lys Trp Thr Arg Ala Asn Total

# of each amino acid

in ORIGINAL protein

# of each amino acid

in Part 2

# of each amino acid

in Part 3

# of each amino acid

in Part 4
Part 1: Original Protein  
1. Access the simulation at:​ ​biol.co/DNA-sim1​.
2. Click on​ Show protein.
3. Click on stop. This is the original protein.
4. Draw the ORIGINAL protein molecule that you see. Make sure to label and count the amino acids and
color code.

Directions Draw, label and color code the Data

new mutated protein

Part 2 (Point Mutation)  ​ ighlight/circle

a. Look at your data table​ and h
1. Click on​ Edit DNA the differences on this mutated protein
2. Change the first three strand from the original.​How many
letters from ​ATG to differences/changes did this mutation cause?
AAA _________
3. Click Apply and then
click Stop b. Look at your ​drawing​. How many green
4. Fill out Data Table #1 amino acids in the original protein? How many
in this mutated protein strand?
Original protein​: _______
Mutated Protein​: _______

c. How many amino acids in total on this

mutated protein? _________

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 Name: ______________________________ Period: ___________ Date: _______________

Part 3 (Frameshift  ​ ighlight/circle

a. Look at your data table​ and h
Mutation)  the differences on this mutated protein
1. Click on​ Edit DNA strand from the original.​ How many
2. Return the ​ first three differences/changes did this mutation cause?
letters back to ​ ATG _________
3. Now place an
additional A after the b. Look at your ​drawing​. How many green
G, your strand will amino acids in the original protein? How many
now read ATGA… in this mutated protein strand?
4. Click Apply and then Original protein​: _______
Stop Mutated Protein​: _________
5. Fill out Data Table #1
  c. How many amino acids in total on this
mutated protein? _________

Part 4 (Silent Mutation)  ​ ighlight/circle

a. Look at your data table​ and h
1. Click on​ Edit DNA the differences on this mutated protein
2. Erase the fourth A to strand from the original.​ How many
return the triplet back differences/changes did this mutation cause?
to its original state _________
(ATG).
3. Now change the b. Look at your ​drawing​. How many green
second triplet from amino acids in the original protein? How many
CCA to CCC. in this mutated protein strand?
4. Click Apply and then Original protein​: _______
Stop Mutated Protein​: _________
5. Fill out Data Table #1
  c. How many amino acids in total on this
mutated protein? _________

Remember that proteins express traits and perform very important functions inside the body.
You just saw 3 different types of mutations (​Point Mutation, Frameshift Mutation, and a Silent
Mutation)​ and observed the changes it caused on the protein.

Based on the data you collected for the mutations, what can you conclude about mutations?
1. What effect do mutations have on proteins?
2. Are mutations beneficial, harmful, and/or neutral (no effect)? How do you know? Explain.

_______________________________________________________________________________
_______________________________________________________________________________
_______________________________________________________________________________
_______________________________________________________________________________
_______________________________________________________________________________
_______________________________________________________________________________

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 Name: ______________________________ Period: ___________ Date: _______________
Investigation Question #2: ​Can mutations be beneficial?
Activity #5: Mutations in Sickle Cell Anemia and Malaria Case Study  
Background: 
Sickle cell anemia is a genetic disease with severe symptoms, including pain and anemia. The disease is 
caused by a mutated version of the gene that helps make hemoglobin — a protein that 
carries oxygen in red blood cells.  
People with two recessive copies of the mutation sickle cell gene have the disease.  
People who carry only one copy of the mutated sickle cell gene (heterozygotes) do not 
have the disease, but may pass the gene on to their children. 
 
Directions: 
1. Open up your investigation folder and look at each card:  
2. As you look at each card, answer the following questions: 
 
1. ​There are effects at the DNA level  1.​ Look at Card #1.  
Circle the change you see in the DNA sequence.  
   
2. Did the change in the DNA sequence change the 
amino acid created? Yes / No ​(circle one) 
Normal Amino acid = GLU Mutated amino acid = _______ 
2. ​There are effects at the protein level  1. Look at ​Card #2.  
Describe the shape of the normal hemoglobin 
protein: 
________________________________________________
________________________________________________
Describe the shape of the mutated hemoglobin 
protein: 
________________________________________________
  ________________________________________________ 
3. ​There are effects at the cellular level  1.Look at ​Card #3.  
 
What happens when the red blood cells change to a 
“sickle-shape”? 
________________________________________________
________________________________________________
________________________________________________
Normal Red Blood Cell Sickle Cell  _______________________________________________ 

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 Name: ______________________________
4.   1.Look at ​Card #4.
5. T​he sickle cell trait has been a medical mystery for 67
years. ​British geneticist Anthony Allison discovered
that people that are heterozygous, carry one mutated
copy of the gene that causes sickle cell, are protected
from malaria.​ In equatorial Africa, up to 40% of people
are carriers (heterozygous) of this mutated gene.
How does the gene protect them?
Scientists compared healthy red blood cells of people
who did not carry the mutated gene and those who did
carry the mutated gene. People that carry one copy of the
mutated gene (heterozygous) are resistant to malaria.
They are resistant to malaria because the parasites are
killed inside the sickle-shaped blood cells of people that
have one copy of the mutated gene (heterozygotes).
6.   1.Look at ​Card #6.
Period: ___________ Date: _______________
  
What is the relationship between the location of the 
heterozygous sickle cell trait and where malaria 
occurs? 
________________________________________________
________________________________________________
________________________________________________
_______________________________________________ 
1.Look at ​Card #5.  
*What did Anthony Allison discover about people 
that are heterozygous and carry one copy of the 
mutated gene? 
________________________________________________
________________________________________________
________________________________________________ 
*How does having one copy of the mutated gene 
protect them? 
________________________________________________
________________________________________________
_______________________________________________ 
  
*What can you conclude about the inheritance of 
sickle-cell anemia? 
________________________________________________
________________________________________________
________________________________________________
________________________________________________ 
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 Name: ______________________________
Mutations Claims  Which student do you agree with? Explain.
George: ​ ​“Since mutations are changes in
the DNA, they cause really cool
superpowers.”
Sophie​: ​“No George, that’s only in
movies. All mutations are actually very
harmful for your body.”
Josh​: ​“Bruh! Mutations are not harmful!
They change your DNA but don’t really do
anything to your body. All mutations are
neutral guys.”
Stephanie​: “​Nah uh! I saw a video on
Youtube of a little kid that had a mutation
and it actually helped protect him from a
disease that spreads by mosquitos. So all
mutations must be beneficial.”
Luis​: “​I think that​ ​many mutations can
be very harmful for people, butI also think
that there are some mutations that are
neutral and don’t do anything to you.
While not a lot, I think there are a few
mutations that can be beneficial and
actually help protect you.”
Activity #6: Bill Nye “Genes and Mutations”  
Directions:Click the link to watch the ​Bill Nye Genes Video​.
1. Where do your genes come from?
2. What is inside every cell in your body?
3. What does DNA stand for?
4. What did Bill climb to get out of the Nye Lab?
Period: ___________ Date: _______________
Make sure to use 2 pieces of evidence to explain your
claim. ​Evidence must come from the simulation and case
study you completed today.
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
_______________________________________________
 
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 Name: ______________________________ Period: ___________ Date: _______________

5. How long is the DNA string model of science? _____________________

6. How many times longer is DNA than it is wide?

7. How does Bill define a Gene?

8. Why is the white blood cell dark on the computer screen?

9. What does the nucleus of the cell contain?

10. What can you do with DNA after you take it out of an organism?
1.
2.

11. What 2 organisms were combined to create the message to Bill in the petri dish?

12. What do genes do?

13. Mom tells Richie: Genes are the set of ​________________​__ _​____________​__ that get passed down from ​___________​__to
child. In the process, of course, the genetic material is ___​_______________​__ in new ways, which is why people bear
resemblance to their _​___________​_ and __​______________​__without looking like any one relative in particular.

14. What analogy does Bill use to describe the human set of chromosomes?

15. What is each chapter analogous to?

16. How many genes to humans have?

17. What do cells in the body not need to do? _​_____________________​___

18. Most species have fewer than _​______​__chromosomes but thousands and thousands of genes

19. Bill calls the babies “bundles of ___​_________________________​____”

20. The reproductive cell that a mother donates to her child is called the _​___

21. The number of cells needed to make a baby is: __​____________________

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 Name: ______________________________ Period: ___________ Date: _______________

22. DNA is the _​________​__ print for the future

23. Earlobes can be _​____________​_or ___​_______________​__

24. A __​______​__is a piece of the _​________​__ molecule

25. The four chemicals of DNA are __​________________________________________________________________________

26. The number of chromosomes that a ​mule foa​l has is _​___​__

27. The number of chromosomes that a ​horse ​has is _​____​_
28. The number of chromosomes that a ​donkey​ has is _​_____
29. In the demonstration, the ​____________​__ gene for rolling your tongue is represented by the letter “R”
30. In the demonstration, the _​___________​__ gene for rolling your tongue is represented by the letter “r”
31. If a person has the pattern RR, then the person __​______​ roll their tongue

32. If a person has the pattern Rr, then the person _​______​_ roll their tongue
33. If a person has the pattern rr, then the person _​______​_ roll their tongue
34. What is special about the turtle in this movie? _​___________​___​___________​___​___________​_ 

2.8 Independent Tasks 

Activity #7:​ Dihybrid Video
Watch the ​Dihybrid and Two-Trait Crosses video​ and answer the following questions:
1. What does the word “​mono” in monohybrid​ mean?

2. What is a ​dihybrid cross​?

3. What does ​Moo​ love?

4. Is the love for sinks genetic?

5. What is the phenotype of a ​HhSs​ cat?

6. What is the phenotype of a ​hhss ​cat?

7. What are ​gametes​? What do they contain?

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Name: ______________________________ Period: ___________ Date: _______________

8. What is Mendel’s Law of Segregation?

9. What is Mendel’s Law of independent Assortment?

10. Color code and label the FOIL method:

11. Each gamete must have one _________ of

each gene.

12. Fill in the following dihybrid punnett square:

13. What is the ​genotype ratio​ for this cat example?

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Name: ______________________________ Period: ___________ Date: _______________

14. What is the ​phenotype ​of this cat example?

15. Are the phenotype and genotype ratios always the same?

Activity #8:​ Probabilities video

Watch ​Probabilities, Dihybrid and Test Crosses Video​ and answer the following questions:
1. Straight wings are dominant over curly wings in fruit flies. How would you determine whether a
straight-winged fly is heterozygous or homozygous?

2. Is it possible to cross more than one trait at a time? What is this called?

3. What gamete combinations are possible when ​AABB​ alleles separate in meiosis?

4. What gamete combinations are possible when ​AABb​ alleles separate in meiosis?

5. What gamete combinations are possible when ​AaBb​ alleles separate in meiosis?

6. What gamete combinations are possible when ​Aabb​ alleles separate in meiosis?

7. How many ​genotypes​ possible in a ​BbHh x BbHh cross​?

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Name: ______________________________ Period: ___________ Date: _______________

8. How many ​phenotypes​ possible in a ​BbHh x BbHh cross?

9. Black (B) hair is dominant over brown (b) hair in rabbits. Short hair (H) is dominant over long hair (h). If
a ​homozygous black short-haired rabbit is crossed with a homozygous brown long-haired rabbit,
what would be the genotype and phenotype of the F1 generation?

10. List the genotypic and phenotypic ratios for the F2 offspring produced between crosses of two animals
of the F1 generation. ​Explain the 9:3:3:1 ratio.

11. Describe the steps taken to solve the following problem: A yellow guinea pig is crossed with a white guinea pig. All of the
offspring are cream colored. The cream-colored animals are crossed. 16 yellow 33 cream and 15 white animals are born.
Explain these results. Explain how a white breed could be developed by starting with the two cream colored parents.

12. What is ​epistasis​?

13. What is a​ polygenic trait​? Give four examples.

Activity #9: Complete Packets  

1. Finish ​Dihybrid Punnett Squares Packet 2.7
a. Check your work and your answers with ​this answer key
2. Finish ​Punnett Squares Packet 2.6
a. Check your work and your answers with ​this answer key
3. Work on Genetics Research Project posted on ​Google Classroom

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Name: ______________________________ Period: ___________ Date: _______________

The Genetics of Sickle Cell Anemia

I. What is Sickle Cell Anemia?
A ​gene​ is a segment of DNA that codes for a protein or a trait. Genes can
be any length and sometimes involve multiple sections of DNA. The HBB
gene provides instructions for making a protein called Beta-globin which is
part of a large protein called ​hemoglobin​ that is found in red blood cells.

Each hemoglobin protein can carry four molecules of oxygen, which is

delivered to the body's organs and tissues. If a person doesn't have enough
red blood cells or the cells don't work properly, organs can become deprived
of oxygen. This condition is called ​anemia​. A person with anemia may feel
tired all the time, experience difficulty with breathing, leg cramps, and
dizziness.

There is one type of anemia that is related to the shape of the HBB protein.
When a person has ​sickle cell anemia​, the hemoglobin protein forms long
chains that change the shape of the red blood cell. Instead of a disc shaped
structure that moves easily through blood vessels, sickled blood cells are
shaped like bananas. The reason they have a sickled shape is because the
underlying gene has the wrong instructions. These misshapen blood cells
get clogged in vessels and don't have the life expectancy of normal blood
cells. A person with sickle cell disease will experience fatigue (feeling tired) and have episodes of extreme
pain, called a ​pain crisis​. Sickled blood cells that block vessels in the brain can even cause stroke.

Sickle cell anemia is a life threatening disease that affects about 100,000 Americans. It is an inherited disease
that is passed from parents to their children, but parents can be ​carriers​ of the gene and not have any
symptoms. If both parents are carriers, their children have a 25% chance of having sickle cell anemia.

1. What is a gene? _____________________________________________________________

2. What is hemoglobin? _____________________________________________________________

3. How is a sickled blood cell different from a normal one? _______________________________________

4. Why are the blood cells the wrong shape? _________________________________________________

5. What are the symptoms of sickle cell anemia? ________________________________________________

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Name: ______________________________ Period: ___________ Date: _______________
6. What is a carrier? ________________________________________________

​II. How DNA Makes Protein

Recall that DNA contains four bases: Adenine, Guanine,

Cytosine, and Thymine. The sequence of A's, T's, G's, and
C's are what determines the protein that is built. Each set
of three bases will code for a single amino acid. ​Proteins
are simply chains of amino acids. To make proteins, DNA
must send its code sequence to the ribosomes in the cell,
but it needs a messenger to do that. ​Transcription​ is the
process where DNA is converted to a molecule of
messenger RNA (mRNA). The mRNA is then used to
build a protein like hemoglobin.

To determine the amino acid sequence of the gene,

you must transcribe the DNA to RNA. The base pair
rule is used to create RNA, but RNA does not contain
thymine, it contains ​URACIL​ instead. This is why
codon charts have U's in them and no T's.

A codon chart tells you what bases in RNA code for

what amino acids. The ribosome combines all the
amino acids to create a single protein, like
hemoglobin. It takes three bases to determine one
amino acid. Amino acids are usually abbreviated.
GUC makes the amino acid valine, abbreviated as
"Val" on the chart.

Here is how a codon chart could be used to determine

the amino acid sequence:

DNA: A A T C A G ​→ (DNA sequence of gene)

RNA: U U A G U C ​ → (transcribed from RNA; follow base pair rule, no T's)
Amino Acids: Leu Val ​ → ​ ​(find on codon chart)

7. In order to make a protein, the message on DNA must be converted to what? ____________

8. How many bases in DNA are needed to code for a single amino acid? ______________

9. What is a protein? ___________________________________________________

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Name: ______________________________ Period: ___________ Date: _______________

10. What base is found in RNA, but not DNA? _______________________

11. Consider the sequence shown, determine the complementary RNA and the amino acids

DNA TAC GTA TTT GCA CAC

RNA

Amino Acids

​III. A Change in DNA Can Change the Protein

Sometimes, one of the letters in DNA gets switched with another letter, causing a mutation in the DNA. Many
mutations don't have any effects, but some will change the amino acid made by the ribosomes. In the case of
sickle cell anemia, just a single letter change alters the shape of the hemoglobin protein.

12. Use the codon chart to determine the amino acids created from each DNA.

13. Which codon in the sickle cell DNA is altered ? ___________________________ ​(1st, 2nd, or 3rd)

14. What happens in people that have this difference in their DNA? ___________________________

15. Explain how it would be possible to have a change in a single base of DNA, but have the protein NOT
change and be functional. Hint: look at the codon chart.

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Name: ______________________________ Period: ___________ Date: _______________
_____________________________________________________________________________________
 

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