Cystic Fibrosis Case Study
Krickett Davis
Zachary Mock
Cystic Fibrosis Case Study:
Part I Questions: The Meeting
Consult your textbook and trustworthy Internet sites to answer the following questions:
1. Which organs are affected by cystic fibrosis? What are the disease symptoms?
Organs that are affected by cystic fibrosis include the lungs, pancreas, liver, sweat glands, reproductive organs, nose and sinuses. The symptoms of cystic fibrosis include coughing with mucus coming up, wheezing, breathlessness, decrease in ability to exercise, lung infections, inflamed nasal passages, stuffy nose, bad growth, intestinal blockage, severe constipation and greasy foul smelling stool.
2. Draw a pedigree showing the family history for CF in Sarah’s and Michael’s families. Be sure to distinguish between individuals with the disease, those that are carriers for the disease, and individuals who do not possess a copy of the disease allele.
Sarah’s Family Michael’s Family
Part II Questions: Punnett Squares
3. Construct a Punnett square to demonstrate why Sarah concluded that she and Michael could not have an affected child (assuming that she does not carry a CF mutation).
Since Sarah jumped to the conclusion that she did not carry any recessive alleles for CF she thought that her and Michael’s baby wouldn’t have CF. So when you cross what she thought she had CC with Michael’s carrier genotype Cc you will have a baby with a 50% chance of being normal and 50% of being a carrier, but would not have CF. The cross between Cc x CC is shown below.
C
C
C
CC
CC c Cc
Cc
4. If Sarah were a carrier, what would be the chance that she and Michael would have an affected child? Show the Punnett square.
There is a 50% chance that the baby will be a carrier. 25% chance that the baby is going to be normal. Then there is a 25% chance that the baby will have CF.
C c C
CC
Cc c Cc cc Part III Questions: CFTR Mutations
5. Look closely at the section on “Allelic Variants.” Is the delta-F508 mutation the
Zachary Mock
Cystic Fibrosis Case Study:
Part I Questions: The Meeting
Consult your textbook and trustworthy Internet sites to answer the following questions:
1. Which organs are affected by cystic fibrosis? What are the disease symptoms?
Organs that are affected by cystic fibrosis include the lungs, pancreas, liver, sweat glands, reproductive organs, nose and sinuses. The symptoms of cystic fibrosis include coughing with mucus coming up, wheezing, breathlessness, decrease in ability to exercise, lung infections, inflamed nasal passages, stuffy nose, bad growth, intestinal blockage, severe constipation and greasy foul smelling stool.
2. Draw a pedigree showing the family history for CF in Sarah’s and Michael’s families. Be sure to distinguish between individuals with the disease, those that are carriers for the disease, and individuals who do not possess a copy of the disease allele.
Sarah’s Family Michael’s Family
Part II Questions: Punnett Squares
3. Construct a Punnett square to demonstrate why Sarah concluded that she and Michael could not have an affected child (assuming that she does not carry a CF mutation).
Since Sarah jumped to the conclusion that she did not carry any recessive alleles for CF she thought that her and Michael’s baby wouldn’t have CF. So when you cross what she thought she had CC with Michael’s carrier genotype Cc you will have a baby with a 50% chance of being normal and 50% of being a carrier, but would not have CF. The cross between Cc x CC is shown below.
C
C
C
CC
CC c Cc
Cc
4. If Sarah were a carrier, what would be the chance that she and Michael would have an affected child? Show the Punnett square.
There is a 50% chance that the baby will be a carrier. 25% chance that the baby is going to be normal. Then there is a 25% chance that the baby will have CF.
C c C
CC
Cc c Cc cc Part III Questions: CFTR Mutations
5. Look closely at the section on “Allelic Variants.” Is the delta-F508 mutation the