Cystic Fibrosis Case Study
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 Roth, intestinal blockage, severe constipation and greasy foul smelling stool. 2. Draw a pedigree showing the family history for CUFF in Sarah’s and Michaels 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 Michaels Family Part II Questions: Pungent Squares 3.
Construct a Pungent square to demonstrate why Sarah concluded that she and Michael could not have an affected child (assuming that she does not carry a CUFF mutation). Since Sarah jumped to the conclusion that she did not carry any recessive alleles for CUFF she thought that her and Michaels baby wouldn’t have CUFF. So when you cross what she thought she had C with Michaels carrier genotype C you will have a baby with a 50% chance of being normal and 50% of being a carrier, but would not have CUFF. The cross between C x C is shown below.
C c 4.
If Sarah were a carrier, what would be the chance that she and Michael would have an affected child? Show the Pungent 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 CUFF.
Part Ill Questions: CUFF Mutations 5. Look closely at the section on “Allelic Variants. ” Is the delta-FIEF mutation the only known alteration of the CUFF gene? No delta-FIEF mutation is only one of many alteration of the CUFF gene. For example other alterations are 6.
As you look at the list of Allelic Variants (starting with .
001), how does the information in brackets (e. G. , [CUFF, PEDDLED]) describe each mutation? This information describes what amino acid is located where the mutation was located. In this case the amino acid is phenylalanine. It tells us the code where the mutation took place. In this example the mutation is at code 508.
This information also tells up what type of mutation took place. In this case it was a deletion mutation. 7. The CUFF gene contains how many Exxon? How many intros?