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Hths 2231
Laboratory 3
Genetics
Watch Movie: Cystic Fibrosis
Answer the movie questions on the worksheet.
Complete activities 1-5
Activity #1:
• Under Lab 3
• Click on activity 1
• Click on “Tour of the Basics”
• Do all 6 “What is…” exercises
Activity #2:
• Click on activity 2
• Build your own DNA molecule and transcribe and translate a gene.
Activity #3:
• Click on activity 3
• Click on “What are Genetic Disorders”
o Review levels 1-3, and cite diseases associated with each.
• Click on and review “Newborn Genetic Screening”.
• Read about the 4 types of genetic disorders.
Activity #4:
• Click on activity 4
• List 3 different patterns of inheritance. In each case discuss the percentage
of children that will be normal, carriers, and affected.
Activity #5:
• Complete the case studies on your worksheet using your text when needed.
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Hthsci 2231 Lab 3
Hths 2231
1.
Laboratory 3
Genetics
Approximately how many genetic diseases exist?
2. Hereditary characteristics are transmitted through _________?
3. The cystic fibrosis gene is :
a. dominant
b. recessive
c. sex-linked dominant
d. sex-linked recessive
4. An individual that inherits a normal gene from one parent and a cystic fibrosis gene from the
other parent is called a ___________.
5. The term “carrier” can be defined as:
6. How does an individual acquire the disease, cystic fibrosis?
7. If both parents carry a recessive gene for cystic fibrosis, their children will have a
________% chance of inheriting the disease and a __________% chance of being a carrier.
8. What is the incidence of cystic fibrosis in Caucasians?
9. What is the incidence of cystic fibrosis carriers in North America?
10. The transport of what ion is affected in cystic fibrosis?
11. The defective transport of this ion causes a layer of __________to form.
12. Which two systems are primarily affected by cystic fibrosis?
13. In the gastrointestinal tract, cystic fibrosis causes difficulty in absorbing _________,
_______, and ___________.
14. In the respiratory tract, what 3 functions are affected by the thick mucous secreted in
patients with cystic fibrosis?
15. List 5 complications of cystic fibrosis that will eventually lead to death.
16. How is cystic fibrosis diagnosed?
17. What is the prognosis for a patient with cystic fibrosis?
18. How is cystic fibrosis treated?
19. Research for cystic fibrosis is concentrating on what 3 areas?
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Hthsci 2231 Lab 3
Hths 2231
Laboratory 3
Genetics
1.
Mrs. Smith’s teenage daughter is short in stature, has relatively little body
hair, underdeveloped breast with nipples far apart, and webbing in the neck.
Chromosomal mapping shows simple monosomy of the X chromosome. Your
diagnosis is:
2.
Mr. Jones 15 year-old son has developed female-like breasts, has small testes,
and his voice is still quite high-pitched. Chromosomal mapping shows a 47XXY
karyotype. This syndrome is:
3.
A 6 month-old child, born at an abnormally low birth rate, has an abnormally
small head, heart defects, learning disabilities and a shrieking cry.
a. What is your diagnosis?
b. This is an example of what type of chromosome abnormality?
4.
5.
Alyssa Turner, 5 year-old, is short in stature with severe learning impairments.
Her face is characteristic of her genetic abnormality. She had low nasal
bridge, eyelids that are folded, a protruding tongue and flat, low set ears. She
had already had surgery for a congenital heart defect.
a.
What disease do you suspect?
b.
What chromosomal pattern would you expect to find?
Mr. and Mrs. James have 4 children, two boys and two girls. One of the boys
and one of the girls inherited a disease from Mr. James. The other 2 children
are not affected. Mr. James mother was also afflicted with the disease.
a.
The most likely inheritance pattern in this case is
b.
Draw a Punnett square expressing this inheritance pattern.
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Hthsci 2231 Lab 3
Hths 2231
6.
Genetics
Bill married his second cousin Betty. Both have normal health histories. Bill and
Betty had 7 children. One daughter and one son have cystic fibrosis.
a.
This is an example of what type of inheritance pattern?
b.
7.
Laboratory 3
Draw a Punnett square expressing this inheritance pattern.
Refer to the pedigree chart on the next page for the following questions.
In this pedigree chart of a family with known hemophilia, circles represent females,
squares represent males, dotted circle represent carriers, and solid colored squares
represent males with hemophilia.
a.
This hemophilia pedigree chart is indicative of what type of pattern?
b.
Check is the appropriate statement(s) that can be determined from this
chart?
___
___
1.
2.
___
___
___
3.
4.
5.
c.
Why does the expression of hemophilia gene skip generations?
Hemophilia male #14 could have a son with hemophilia.
Hemophilia male #1 could have daughters that
are carriers of the hemophilia gene.
Daughter #9 could have a son with hemophilia.
Daughter #4 could have a daughter with the hemophilia gene.
Hemophilia male #1 could pass the hemophilia gene to his sons.
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Hthsci 2231 Lab 3
Hths 2231
Laboratory 3
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Genetics
Hthsci 2231 Lab 3
Hths 2231
Laboratory 3
Genetics
ANSWERS TO CYSTIC FIBROSIS WORKSHEET
1. Approximately how many genetic diseases exist? APPROX 3500
2. Hereditary characteristics are transmitted through _________? DNA/GENES
3. The cystic fibrosis gene is :
a. dominant
b. recessive
c. sex-linked dominant
d. sex-linked recessive
ANS: B RECESSIVE
4. An individual that inherits a normal gene from one parent and a cystic fibrosis gene from the other parent is
called a ___________. CARRIER
5. The term “carrier” can be defined as: INDIVIDUAL WILL NOT DEMONSTRATE THE DISEASE BUT
CAN PASS THE GENE TO THEIR CHILDREN.
6. How does an individual acquire the disease, cystic fibrosis? AN INDIVIDUAL WITH CYSTIC FIBROSIS
HAS INHERITED A RECESSIVE CYSTIC FIBROSIS GENE FROM BOTH PARENTS.
7. If both parents carry a recessive gene for cystic fibrosis, their children will have a ________% chance of
inheriting the disease and a __________% chance of being a carrier. 25%, 50%
8. What is the incidence of cystic fibrosis in Caucasians? 1 IN 2000 HAVE THE DISEASE
9. What is the incidence of cystic fibrosis carriers in North America? 1 IN 20 ARE CARRIERS
10. The transport of what ion is affected in cystic fibrosis? Cl11. The defective transport of this ion causes a layer of __________to not form. WATER
12. Which two systems are primarily affected by cystic fibrosis? GASTROINTESTINAL, RESPIRATORY
13. In the gastrointestinal tract, cystic fibrosis causes difficulty in absorbing _________, _______, and
___________. PROTEINS, FATTY ACIDS, VITAMINS
14. In the respiratory tract, what 3 functions are affected by the thick mucous secreted in patients with
cystic fibrosis? BREEDING GROUND FOR INFECTIONS, MECHANICAL OBSTACLE TO AIR
CIRCULATION, GAS EXCHANGE IN THE ALVEOLI
15. List 5 complications of cystic fibrosis that will eventually lead to death. EMPHYSEMA, CHRONIC
BRONCHITIS, ANATOMICAL DESTRUCTION, RESPIRATORY INSUFFICIENCY, AND HEART FAILURE
16. How is cystic fibrosis diagnosed? SWEAT TEST
17. What is the prognosis for a patient with cystic fibrosis? FATAL; AVERAGE LIFE EXPECTANCY IS 29
YEARS
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Hthsci 2231 Lab 3
Hths 2231
Laboratory 3
Genetics
18. How is cystic fibrosis treated? DRUGS, PHYSIOTHERAPY
19. Research for cystic fibrosis is concentrating on what 3 areas? CURE, TREATMENT, PHARMACOLOGY
ANSWERS TO GENETICS WORKSHEET
1.
Mrs. Smith’s teenage daughter is short in stature, has relatively little body
hair, underdeveloped breast with nipples far apart, and webbing in the neck.
Chromosomal mapping shows simple monosomy of the X chromosome. Your
diagnosis is:
TURNER SYNDROME
2.
Mr. Jones 15-year-old son has developed female-like breasts, has small testes,
and his voice is still quite high pitched. Chromosomal mapping shows a 47XXY
karyotype. This syndrome is:
KLIENFELTER SYNDROME
3.
A 6 month-old child, born at an abnormally low birth rate, has an abnormally
small head, heart defects, severely developed learning abilities, and a shrieking
cry.
a.
What is your diagnosis? CRI DU CHAT SYNDROME
b.
This is an example of what type of chromosome
abnormality? DELETION
4.
Alyssa Turner, 5 year-old, is short in stature with severe learning impairments.
Her face is characteristic of her genetic abnormality. She has low nasal bridge,
eyelids that are folded, a protruding tongue and flat, low set ears. She has
already had surgery for congenital heart defect.
a.
What disease do you suspect? DOWN’S SYNDROME
b.
What chromosomal pattern would you expect to find?
TRISOMY OF THE 21ST CHROMOSOME
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Hthsci 2231 Lab 3
Hths 2231
5.
Laboratory 3
Mr. and Mrs. James have 4 children, two boys and two girls. One of the boys
and one of the girls inherited a disease from Mr. James. The other 2 children
are not affected. Mr. James mother was also afflicted with the disease.
a.
The most likely inheritance pattern in this case is AUTOSOMAL
DOMINANT
b.
Draw a Punnett square expressing this inheritance pattern.
D
d
6.
d
Dd
dd
d
Dd
dd
Bill married his second cousin Betty. Both have normal health histories. Bill and
Betty had 7 children. One daughter and one son have cystic fibrosis.
a.
This is an example of what type of inheritance
pattern? AUTOSOMAL RECESSIVE
b.
Draw a Punnett square expressing this inheritance pattern.
D
d
7.
Genetics
D
DD
Dd
d
Dd
dd
Refer to the pedigree chart on the next page for the following questions.
In this pedigree chart of a family with known hemophilia, circles represent females,
squares represent males, and solid colored squares represent males with hemophilia.
a.
this hemophilia pedigree chart is indicative of what
type of pattern? X-LINKED RECESSIVE
b.
Check the appropriate statement(s) that can be determined from this
chart?
NO
YES
1.
2.
Hemophilia male #14 could have a son with hemophilia.
Hemophilia male #1 could have daughters that are carriers
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Hthsci 2231 Lab 3
Hths 2231
Laboratory 3
Genetics
of the hemophilia gene.
Daughter #9 could have a son with hemophilia.
Daughter #4 could have a daughter with the hemophilia gene.
Hemophilia male #1 could pass the hemophilia gene to his sons.
YES
YES
NO
3.
4.
5.
c.
Why does the expression of Hemophilia gene skip generations?
THE GENE IS CARRIED ON THE X CHROMOSOME. A MALE WITH
HEMOPHILIA WOULD PASS THE X CHROMOSOME WITH THE
HEMOPHILIA GENE TO HIS DAUGHTERS WHO WOULD BE CARRIERS.
HIS SONS WOULD RECEIVE THE Y GENE AND WOULD NOT BE
AFFECTED. HIS DAUGHTERS COULD PASS THE HEMOPHILIA X GENE
ON. THEIR SONS (50% CHANCE) WOULD EXPRESS THE DISEASE.
DAUGHTERS WHO INHERIT THE AFFECTED S GENE (50% CHANCE)
WOULD BE CARRIERS.
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Hthsci 2231 Lab 3