Pre-activity assessment questions
• Note: The first two slides are intended for first-time clicker users to become accustomed to the devices.
Where do you live?
Baltimore are
a
Wash
ington are
a
Salis
bury
Oth
er than Salis
bury o...
Delaware
Somewhere
else
17% 17% 17%17%17%17%1. Baltimore area2. Washington area3. Salisbury4. Other than Salisbury
on the Eastern Shore of MD
5. Delaware6. Somewhere else
Have you studied genetics in your school classroom?
Yes, a lo
t.
Yes, a litt
le bit.
No, n
ot very m
uch.
What d
o you m
ean by g...
25% 25%25%25%
1. Yes, a lot.
2. Yes, a little bit.
3. No, not very much.
4. What do you mean by genetics?!?!
When a trait is inherited, what actually passes from one generation to the
next?
1. Protein
2. DNA
3. RNA
4. Amino acids
Which words relate to DNA?
Deoxy
ribonucle
ic acid
G
ene
Chromoso
me
All of t
he above.
25% 25%25%25%
1. Deoxyribonucleic acid
2. Gene
3. Chromosome
4. All of the above.
A trait is recessive if
if th
e DNA co
ding for it
...
if th
e DNA co
ding for i
t ...
if no co
pies of t
he DNA a..
if both
parents had th
e t...
25% 25%25%25%1. the DNA coding for it
must be inherited from both parents.
2. the DNA coding for it only needs to be inherited from one parent.
3. no copies of the DNA are inherited from the parents.
4. both parents had the trait.
If both parents have a recessive disease, what is the chance that their
child will have the same disease?
0%25%
75%100%
Not e
nough in
form
ation ..
20% 20% 20%20%20%
1. 0%
2. 25%
3. 75%
4. 100%
5. Not enough information to answer the question.
If neither parent has a recessive disease, what is the chance that their child will inherit a recessive disease?
0%25%
75%100%
Not e
nough in
form
ation...
20% 20% 20%20%20%
1. 0%
2. 25%
3. 75%
4. 100%
5. Not enough information given.
How might you tell if someone has a genetic disease?
Test
his/her D
NA.
Test his/
her blood.
Look f
or dise
ase sy
mptoms.
All of t
he above.
25% 25%25%25%
1. Test his/her DNA.
2. Test his/her blood.
3. Look for disease symptoms.
4. All of the above.
A genetic disease that all newborn babies get tested for is
HIV
Phenylketonuria
Cancer
Diabete
s
25% 25%25%25%
1. HIV
2. Phenylketonuria
3. Cancer
4. Diabetes
All people with PKU are hyperactive and have seizures and rashes.
Tru
e
False
50%50%1. True
2. False
People with PKU need to avoid a high protein diet because
their
DNA binds to it
a..
high protein diets
cause
...
they h
ave to
o much
ph...
None of t
he above.
25% 25%25%25%
1. their DNA binds to it and makes them sick.
2. high protein diets cause heart disease.
3. they have too much phenylalanine in their blood.
4. None of the above.
Phenylalanine is a(n)
gene
protein
amino acid
diseas
e
25% 25%25%25%
1. gene
2. protein
3. amino acid
4. disease
Newborn genetic testing• Chemical analysis of blood samples• Detects lack or excess of important metabolites
and hormones• Detects red blood cell abnormalities• Ideal if fast and inexpensive• Ideal to identify and treat diseases as soon as
possible• Important knowledge for future generations• Specific tests vary somewhat from state to state
Phenylketonuria (PKU) inheritance
• Inherited, recessive disease• About 1 in 15,000 babies born in the United
States inherit PKU.• People with PKU (phenylketonurics) can’t
break down phenylalanine, a common amino acid
• All newborns in United States are screened for PKU
Neither parent has the disease,
but children can inherit it.
Phenylketonuria (PKU)
• Excess phenylalanine, a common amino acid• Phenylalanine accumulates, causing rashes,
seizures, hyperactivity, and mental retardation, if untreated.
• No cure.• Disease is managed by avoiding foods high
in proteins containing phenylalanine.
Phenylalanine
(Phe)
Newborns are screened for PKU
• All US babies are screened for PKU by heel-prick test.
• Blood tested for excess phenylalanine.• Blood placed on agar plate with bacteria
that need phenylalanine to grow.• Healthy babies’ blood doesn’t have extra
phenylalanine, so bacteria can’t grow• Babies with PKU have extraphenylalanine, so bacteria grow
Guthrie test for PKU
Bacterial plate with newborn blood samples
Negative controls: no bacterial growth
Positive blood test results: bacterial halo = PKU
Negative blood test results: no bacterial growth = healthy babies
Positive controls : increasing phenylalanine concentrations give bacterial halos
http://www.childrenshospital.org/cfapps/research/data_admin/Site2940/mainpageS2940P4sublevel15.html
Simulated Guthrie screen for PKU• Place filter with “newborn blood sample” onto
agar plate. Wait 10- 15 minutes.• Include positive and negative control samples.
– What is used for these controls?
• Look for agar plate color to change to indicate positive results.
• Remove filters if necessary.
“Blood” samples
Positive controlNegative control+ -
Amino acids make proteins• Phenylalanine (Phe) is an amino
acid found in almost all proteins.• 20 amino acids make up all the
proteins found in living things.• Proteins are chains of linked amino
acids that give cells shape or act like machines to do work in cells.
Proteins cause most traits in living thingsProteins are linked amino acids that give cells
shape or act like machines to do work in a cell.Protein sequences are determined by DNA.
Keratin protein makes hair
Enzyme makes purple
pigment
GFP makes green
fluorescent protein
Animal muscles are made of protein.
PKU is caused by DNA mutations
• People with PKU have inherited mutations in the gene coding for a protein that regulates phenylalanine levels.
• Phenylketonurics have too much phenylalanine in their blood.
• Excess phenylalanine causes disease symptoms, like mental retardation.
• Keeping phenylalanine blood levels low allows healthy life.
PKU Diet: low protein = low phenylalanine
• Lofenalac special infant formula, low in phenylalanine
• Phenylalanine-free nutrient mixes for adults.• Little to no milk, cheese, eggs, meat, fish, beans,
nuts, or other high protein foods.
• Fruits and vegetables are the most safe foods.
• Certain “diet” or “light” foods must be avoided completely.
Sickenly sweet Aspartame• Aspartame = artificial sweetener made from
amino acids phenylalanine and aspartic acid• Found in “diet”, “light”, and “sugar-free”
foods• Highly toxic to people with PKU
When a trait is inherited, what actually passes from one generation to the next?
1. Protein
2. DNA
3. RNA
4. Amino acids P
rote
in D
NA RNA
Amino acids
25% 25%25%25%
Which words relate to DNA?
Deoxyri
bonucleic
acid G
ene
Chromoso
me
All of t
he above.
25% 25%25%25%1. Deoxyribonucleic acid
2. Gene
3. Chromosome
4. All of the above.
A trait is recessive if
if th
e DNA co
ding for it
...
if th
e DNA co
ding for i
t ...
if no co
pies of t
he DNA a..
if both
parents had th
e t...
25% 25%25%25%1. the DNA coding for it
must be inherited from each parent.
2. the DNA coding for it only needs to be inherited from one parent.
3. no copies of the DNA are inherited from the parents.
4. both parents had the trait.
If both parents have a recessive disease, what is the chance that their
child will have the same disease?
0%25%
75%100%
Not e
nough in
form
ation...
20% 20% 20%20%20%
1. 0%
2. 25%
3. 75%
4. 100%
5. Not enough information given.
If neither parent has a recessive disease, what is the chance that their child will inherit a recessive disease?
0%25%
75%100%
Not e
nough in
form
ation...
20% 20% 20%20%20%
1. 0%
2. 25%
3. 75%
4. 100%
5. Not enough information given.
How might you tell if someone has a genetic disease?
Test his/
her DNA.
Test his/
her blood.
Look f
or dise
ase sy
mptoms.
All of t
he above.
25% 25%25%25%
1. Test his/her DNA.
2. Test his/her blood.
3. Look for disease symptoms.
4. All of the above.
A genetic disease that all newborn babies get tested for is
HIV
Diabete
s
Cancer
Phenylketonuria
20% 20% 20%20%20%1. HIV
2. Phenylketonuria
3. Cancer
4. Diabetes
All people with PKU are hyperactive and have seizures and rashes.
1. True
2. False
Tru
e
False
50%50%
People with PKU need to avoid a high protein diet because
1. their DNA binds to it and makes them sick.
2. they have too much phenylalanine in their blood.
3. high protein diets cause heart disease.
4. All of the above. th
eir DNA binds t
o it a..
high protein diets
cause
...
they h
ave to
o much
ph...
All of t
he above.
25% 25%25%25%
Phenylalanine is a(n)
gene
protein
amino acid
diseas
e
25% 25%25%25%
1. gene
2. protein
3. amino acid
4. disease
1. Write down one interesting thing that you learned in this session.
2. Write down one question that you have or something that confused you in this session.
More multiple choice ideas
• What is the difference between phenylalanine and PKU ? Phe is a building block for proteins, while PKU is a disease (and variations)
• What is the relationship between a protein and an amino acid? Amino acids are the building blocks for proteins (and variations).
Proteins are coded by DNA• DNA sequence determines amino
acid sequence in proteins.
• Amino acid sequence determines protein structure and function.
• Changes, or mutations, in DNA cause changes in protein’s amino acid sequence.
• Changes in protein structure cause changes in protein function.
• Changes in protein function cause altered traits, sometimes disease.
trait
Proteins cause most traits in living thingsProteins are linked amino acids that give cells
shape or act like machines to do work in a cell.Proteins are encoded by DNA.
Keratin makes hair
Enzyme makes purple
pigment
Phenylalanine hydroxylase enzyme
breaks down phenylalanine
GFP makes green
fluorescent protein
PKU is caused by DNA mutations
• People who inherit PKU have inherited mutations in the gene coding for a digestive protein (enzyme).
• Phenylalanine hydroxylase enzyme breaks down phenylalanine.
Phenylalanine hydroxylase
enzyme breaks down
phenylalanine
• Phenylketonurics don’t have working phenylalanine hydroxylase, so they can’t break down phenylalanine.
• Phenylalanine accumulation causes disease symptoms, like mental retardation.
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