Using Sickle Cell Disease as a tool to gain an understanding of
the inheritance of traits
• Caused by an
abnormal a gene
• Affects red
blood cells
• Hemoglobincarries oxygen
from the lungs to
all parts of the
body.
• It is an inherited blood disorder
• Both parents have to have it to pass on the
abnormal gene
• If you inherit the problem gene from one parent
and a normal gene from the other
• ‘Sickle cell trait' or be a Carrier
•Doesn't usually cause any symptoms
• Can be passed on to the next generation.
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Homozygous •
Heterozygous •
Dominant
•
Recessive
•
Wildtype
•
Carrier
•
Punnet
•
Square
• Pedigree
• Chromosome
Gene
Genetics
P generation
F1s
F2s
Hybrids
Mendel?
• For every pregnancy when both parents have sickle trait, there
is a 1in 4 chance that their offspring will have sickle cell anemia.
• Red blood cells are
donut-shaped and
flexible
• In people with SC the
cells are hard and
sickle shaped
• Block small blood
vessels
• Stop oxygen
• This blockage causes
pain
• Protein
• Primary component of
red blood cells
• Composed of four
sub-units
• Each carries one
oxygen molecule
• People with sickle cell
have abnormal
hemoglobin
• Do not last in the circulatory
system and
• Breakdown quickly
• Causing anemia (low
hemoglobin)
• Liver struggles to get rid waste
• Symptoms:
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Tired and pale
Jaundice
Gallstones causing tummy pain
Kidney problems
Hip and joint pain
Stroke
Heart attack
Sudden death
Pain, Persistence, Family: Sickle Cell Disease
• Amino Acid
• Alpha-globin
• Anemia
• Beta-globin
• Complication
• Hemoglobin
• Prognosis
• Protein
• Sickle cell
• Symptom
• Trait
• Step Up the Beat!
• Alek Blandford, Makailah Cecil, Dakota Edgell and Akeel
Kalik
• Dissipating the Smoke
• Amber Howard, Elizabeth Hurm and Lucy Kurtz
• herOes
• Andrew McIntosh, Cole Tapp, Tyler White
• SOS Project
• Emily Linn, Elaine Leslie, Kanyon Tapp and Makayla
Claiborne
• River Run for Fun
• Kaleb Deker, Trey Kinison, Kristina Canary and Candace
Young
• Drop that Cigarette
• Emma Fitzgerald, Harsh Moolani and Sonal Muthalali
• Helping Complete the Puzzle
• Marissa McDaniel, Wade Hall and Chance Meeks
• Kickball Tournament to Fight Obesity
• Braden Johnson, Nate Martin, Eric Schwender and Harrison
Spain
Thanks to our EXPERTS!
1.
Perform the HerOs skit at a minimum of two area elementary schools, in
front of approximately 300-500 students total.
• Scheduling will immediately commence when our grant is accepted.
• We will visit two schools at minimum and add additional schools as money
and time allow.
2. Distribute HerOs pamphlets to each student who views our performance.
The pamphlet will include:
• Facts on obesity;
• Active alternatives to watching TV or playing video games; and
• Easy snack ideas kids can make themselves or request from their parents.
3. Preceding and following each performance we will administer a very short
survey to gauge our ability to inform our audience.
• It is our hope that the 60% of our audience will demonstrate increased
knowledge concerning obesity.
What resources do we have?
• Anyone’s parents sew? Hand-made superhero costumes?
• Work with TWO on the skit?
• Anyone’s parents work at elementary schools?
• Any printing resources?
• What other resources do we have (list):
• Acting in the Skit
• Scheduling with Elementary
Schools
• Writing/Directing the Skit
• Creating the Brochure
• Props/Costumes for the Skit
• Prizes
• Activity 4.1.3 Due
TODAY!
• Activity 4.1.4 Due
Monday: Pick 2!
• Epidemiologist
• Clinical Laboratory
Technician
• Hematologist
• PBS Sickle Cell Link (Video)
• A bit on evolution….
 What were Darwin’s Main
ideas anyway???
1. Species change over time
2. Living species have arisen
from earlier life forms
(descending from a common
ancestor)
 Darwin’s main ideas
 Close ties between
organisms and their
environments*
 Can be traced back to the
ancient Greeks
Evolution is the greatest unifying theme in biology,
and The Origin of Species fueled an explosion in
biological research and knowledge that
continues today.
Evolutionary theory continues to expand beyond
Darwin’s basic ideas.
Nonetheless, few contributions in all of science
have explained so much, withstood as much
repeated testing over the years, and stimulated
as much other research as those of Darwin.
• Natural Selection
1. Produce more offspring
than the environment can
support
2. Individuals of a
population vary in their
characteristics
3. Many characteristics can
be inherited
4. Beneficial
characteristics are
preferentially passed
down
• Darwin found convincing evidence for his ideas in the results of artificial
selection
• With humans playing the role of the environment
Hundreds to thousands of years
of breeding (artificial selection)
Ancestral dog (wolf)
Throughout Human Evolution
• The best genes survive from
one generation to next
• Why do we still have some
deleterious genetic
mutations?
• Various mutations have
provided a benefit
• Extra Iron
• Sickle Cell
• We continue to see these
mutations in modern day
humanity even when the
benefit no longer exists
(leftover)
• The Immortal Story of
Henrietta Lacks
• The first cell line, cultured
more than 60 years ago
• The HeLa Cell-Line has
been reproducing
independently, fueling
biological research
• Bioethics- The study of
controversial ethics
brought about by
advances in biological or
medical research
• Two sides of the argument
• Henerietta’s
• Dr. Gey’s
• Prep time
• Design opening and closing
statement
• Make THREE KEY arguments
• Plan a defense against your
opponent
• H: Opening statement (1 minutes)
• G: Opening statement (1 minutes)
• H: Key Point 1(one minute)
• G: rebuttal
• H: rebuttal
• G: Key Point 1(one minute)
• H: rebuttal
• G: rebuttal
• H: Key Point 2 (one minute)
• G: rebuttal
• H: rebuttal
• G: Key Point 2 (one minute)
• H: rebuttal
• G: rebuttal
• H: Key Point 3 (one minute)
• G: rebuttal
• H: rebuttal
• G: Key Point 3 (one minute)
• H: rebuttal
• G: rebuttal
• H: Closing (one minute)
• G: Closing (one minute)
1. How does someone get
sickle cell disease?
2. Can sickle cell disease
spread from one person to
another the same way as a
cold or the flu?
3. How are diseases
inherited from parents?
4. What are examples of
human diseases that are
inherited?
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Chromosome
Dominant trait
Gene
Heredity
Mutation
Pedigree
Sex Chromosome
Recessive trait
• How does analyzing pedigrees help doctors,
epidemiologists, researchers, and other scientists
understand how diseases are inherited?
• Essential Questions
• 8. How are pedigrees used to track diseases?
• 9. Why does sickle cell disease run in families, yet
is not present in every generation?
• How does analyzing pedigrees help doctors, epidemiologists,
researchers, and other scientists understand how diseases are
inherited?
• Essential Questions
• 8. How are pedigrees used to track diseases?
• 9. Why does sickle cell disease run in families, yet is not present in
every generation?
• Career Journals: Due Friday (pick 1)
• Clinical Geneticist
• Genetic Counselor
• Biostatistician
• When
• Tuesday, Feb 12th 6-7PM
• Where?
• In the ATC Builiding (across
from our building)
• What will I do?
• Mingle with perspective
students, chat and answer
questions about the LSA
and our class
• OPTION: to speak for 2-3
minutes
• Sign Here: Denote with
(s) if you’d like to speak!
• Essential Question
10
• How can doctors and
genetic counselors
calculate the
probability of a child
inheriting a disease?
• Don’t forget 4.2.7
Career Journal is due
FRIDAY!
• What do we know about
inheritance of traits and
chromosomes?
• How do chromosomes carry all
the information we need to be
alive?
• Essential Questions
1.
2.
What are chromosomes made
of?
What is DNA?
• Meiosis Video
• Activity 4.3.1
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Pull from curriculum
Start with number #19
Skip #20
Conclusion questions (on separate
sheet) due tomorrow!
• Essential Questions 3 and 4
• 3. What is the relationship between chromosomes, DNA, and genes?
• 4. Does every cell in an organism have the same DNA?
• Key Terms
• Adenine
• Buffer
• Cytosine
• Gene
• Guanine
• Helix
• Histone
• Hydrogen bond
• Lysis
• Model
• Nucleotide
• Thymine
• Supernatant
Essential Question
5. How do scientists isolate DNA in order to study it?
• Located in the cell’s nucleus.
• Humans have 23 pairs.
• Inherit one of each of the 23 types of
chromosomes from each parent.
• Passed to new generation in sperm and egg
cells.
• Inherited diseases are passed to new
generation on chromosomes.
• Chromosome Structure
• Each chromosome consists of a single molecule
of deoxyribonucleic acid (DNA).
• Basic chromosomal structure is the same in all
cells that contain a nucleus.
• Chromosome Function
• Contains the code or instructions for how to
make specific proteins which then determine
the organism’s traits.
• The specific instructions for a protein are on
sections of the chromosome called genes.
• Chromosome 11 carries
the instructions (genes) to
make the hemoglobin
protein.
• There are different
versions of these genes:
• Normal--healthy
• Mutated or changed-Sickle cell or other
hemoglobin disorder.
• A section of DNA that corresponds to a discreet unit
of heredity
• Information needed to make a specific polypeptide
(chain of amino acids)
• Proteins that are a single polypeptide are usually
associated with a single gene
• Proteins that consist of multiple polypeptides are
associated with multiple genes
3. What is the relationship between
chromosomes, DNA, and genes?
4. Does every cell in an organism have the
same DNA?
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What are the 3 components of a nucleotide?
What are the names of the four nucleotides?
Which nucleotides are purines?
Which nucleotides are pyrimidines?
What holds the two strands of DNA together?
• “Zoom In On Your Genome”
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Adenine
Buffer
Cytosine
Gene
Guanine
Helix
Histone
Hydrogen bond
Lysis
Model
Nucleotide
Thymine
Supernatant
• Why didn’t we see the
double helix?
• Essential Question
• 6. How much DNA is
in a single human cell?
• If all the DNA in our
body was linked endto-end, how long would
the molecule be?”
• http://web2.0calc.com
• 1 Angstrom = 1 x 10-10 meter
• 1 nanometer = 1 x 10-9 meters
• 10 Angstroms = 1 nanometer
• The rhinovirus = 20nm in size = 200Ao
• Each DNA nucleotide pair = 3.4Ao
• The diameter of 200Ao = the length of 59 base pairs (200Ao ∕
3.4 Ao)
• http://web2.0calc.com
• How big is a single molecule of
DNA? If we lined up ALL the
DNA in a typical human it
would…
• Reach the moon and back
• 260,000 times
• From earth to sun and back
• 70 times!
• From the sun to Pluto and
back
• 17 times
• How does it all fit?
• Powers of Ten
• Review
• Essential Questions
• 5. What is a chromosome?
• 6. What is a mutation?
• 7. How many chromosomes do
humans normally have?
• How many chromosomes will
we see in the HeLa cells?
• Class Chart
• On board and in your notes
• Acting in the Skit
• Scheduling with Elementary
Schools
• Writing/Directing the Skit
• Creating the Brochure
• Props/Costumes for the Skit
• Prizes
• Writing/Directing the Skit
(work with Prop/Costumers)
• How many skits?
• Basic ideas
• Rough outline of tasks
• Props/Costumes for the Skit
(work with Writers)
• What props?
• What costumes?
• Look up costume prices
• Scheduling with Elementary
Schools
• How will we pick?
• Factors to consider
• Contacts?
• Creating the Brochure
• Outline tasks
• Outline brochure
BONUS:
1) What type of image is this?
2) If all the DNA in our body was linked end-to-end, how long
would the molecule be (in km)?
Spread 1
Cole’s
Tyler’s
Elaine’s
Emily’s
Amber’s
MEAN
Spread 2
Spread 3
Mean
• Cell lysis buffer- Lyse cell membranes
• Detergent- Break apart lipids and proteins
• Salt- Increase solute concentration OUTSIDE of the cell
• Baking soda- Sodium bicarbonate controls pH- it’s a “buffer”
• Ethanol- Less polar than water
• Adding ethanol to solution disrupts the charges by water
• If enough ethanol is added, the electrical attraction between phosphate
groups and any positive ions present in solution becomes strong enough to
form stable ionic bonds and DNA precipitation
1.
What is the length in angstroms of a single average human DNA molecule?
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2.
The number of nucleotide pairs in a single human DNA molecule is 1.5 x 108.
The length of one nucleotide pair in a DNA helix is 3.4 angstroms.
The average length of a single human DNA molecule is
(1.5 x 108) x 3.4 = 5.1 x 108 angstroms.
What is the length in micrometers (um) of a single average human DNA
molecule?
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3.
1 angstrom = 10-10 m
The average length of a single human DNA molecule is
(5.1 x 108 Ao) x 10-10 m/Ao = 5.1 x 10-2 meters.
1 ,000,000 micrometer = 1m or 1 x 106 um= 1m
The average length of a single human DNA molecule is
(5.1 x 10-2 m) x 106 micrometers/m = 5.1 x 104 micrometers.
How does the length of a single average DNA molecule compare to the
diameter of a human nucleus and of a human cell?
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A single DNA molecule averages 5.1 x 104 micrometers in length
The average diameter of a human nucleus is 5 micrometers
So the DNA molecule is 10,000 times larger.
4. If all the DNA molecules in a single human cell were connected
end-to-end, how long would the resulting molecule be?
• One way is to use the average length of a DNA molecule. The average
length is 5.1 x 104 micrometers and there are 46 DNA molecules in a
human cell
• (5.1 x 104 micrometers) x 46 = 2.35 x 106 micrometers. This is equal
to 2.35 meters.
• The second way is to use the estimated number of nucleotide pairs. The
estimated number of nucleotide pairs is 6 x 109 and each nucleotide pair
is 3.4 angstroms in length.
• (6 x 109) x 3.4 Ao = 2.0 x 1010 Ao, which is equal to 2 meters.
• Activity 4.3.5 Careers that Involve the Study of DNA
• Molecular Biologist
• Evolutionary Biologist
• Complete Activity 4.4.1 (will give you tomorrow)
• Need Internet access
• Answer conclusion questions in depth
• Complete (as much as possible) the Crossword Puzzles
• 4.1 & 4.2
• 4.3 - 4.5 (will give you tomorrow)
• Essential Questions
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1. What is a gene?
2. What is the DNA code?
3. What is the connection between genes and proteins?
4. How are proteins produced in a cell?
5. How does the sequence of nucleotides in DNA determine the sequence
of amino acids in a protein?
DNA
Monomer used to form it
Shape of macromolecule
Location in the cell
Function in the cell
Role in disease
Proteins
oAmino group
oCarboxyl group
oCodon
oExon
oGene
oHydrophilic
oHydrophobic
oHydroxyl group
oIntron
oMessenger RNA (mRNA)
oMutation
oNucleotide
oPrimary Structure
oQuaternary Structure
oRibonucleic Acid (RNA)
oRibosome
oSecondary Structure
oTertiary Structure
oTranscription
oTransfer RNA (tRNA)
oTranslation
4.4.1
Essential Questions
6. What determines the
shape of a protein?
7. Is the shape of a protein
affected by its surrounding
environment?
4.4.1
• The sequence of amino acids
• joined by peptide bonds
• comprise the primary
structure
• The properties of the amino
acids
• in the cellular environment
• Determine formation of the
higher-level structure
4.4.1
4.4.2
• Writing/Directing the Skit
(work with Prop/Costumers)
• How many skits?
• Basic ideas
• Rough outline of tasks
• Props/Costumes for the Skit
(work with Writers)
• What props?
• What costumes?
• Look up costume prices
• Scheduling with Elementary
Schools
• How will we pick?
• Factors to consider
• Contacts?
• Creating the Brochure
• Outline tasks
• Outline brochure
What if a doctor wanted to change
something about a particular protein.
What about that protein would need to
change?
• Essential Questions
8. If the DNA code is changed, does
the shape of a protein change?
9. Can changing just one nucleotide
in a gene change the shape of a
protein?
10. Is it possible to design proteins
that have specific characteristics?
11. How are proteins designed?
• Not genetic- occur during cellular replication and growth
• Rare, random event that can not be predicted
• Cri-du-chat
• A portion of chromosome number 5 breaks off
• Occurs in about 1 out every 40,000 or 50,000 births
• If there was a test that could detect problems with chromosomes,
would you have the test done on yourself, or if you were pregnant
would you have the fetus tested
• Trisomy 13- Patau syndrome, three copies of chromosome 13
• Trisomy 18- Edwards syndrome, three copies of chromosome18 or when a
segment of chromosome 18 attaches to a different chromosome.
• Essential Questions
• 1. Can a person with 45 or 48 chromosomes survive?
• 2. What happens if someone has more or fewer than 46 chromosomes?
• 3. How can doctors detect if a patient has an abnormal number of
chromosomes?
• Key Terms
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Dominant trait
Hydrophilic
Hydrophobic
Karyotype
Mutation
Recessive trait
Polymerize
• Most chromosomal mistakes are deleterious in utero
• Smaller mutations do not show on a karyotype- leaqd to genetic
disease
• Types of genetic diseases (learn these)
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Tay Sachs
Hemophilia
Cystic Fibrosis
Huntington’s Disease
Polycystic Kidney Disease
Hemachromatosis
Sickle Cell Disease
• Essential Questions
• 4.
• 5.
• 6.
Can changing a single nucleotide in a gene cause a disease?
How is sickle cell hemoglobin different from normal hemoglobin?
What DNA mutations are directly linked to inherited diseases?
• Single mutation in the 400 nucleotides that code for beta-globin
(A to T)
• Changes code for 6th amino acid in the B-globin protein from
GAG to GTG (valine to glutamic acid)
• Causes hemoglobin molecule to polemerize and ditirts the shape
of the red blood cell