Cystic Fibrosis-a Clicker Case - University at Buffalo

Cystic Fibrosis-a Clicker Case - University at Buffalo

NATIONAL CENTER FOR CASE STUDY TEACHING IN SCIENCE Cystic Fibrosis: Then and Now by Kathleen A. Nolan and Allen J. Burdowski Biology and Health Sciences St. Francis College, Brooklyn, NY Students, before coming to class you should have:

Watched the 4.5 minute video Cystic Fibrosis: Then and Now. 2 Pay close attention to this scenario. This is a true story. A doctor informs a young father that his newborn baby boy has cystic fibrosis. The father says, Yes, that would make sense as

I am a carrier for cystic fibrosis. But the grandfather says, No, the baby cant have cystic fibrosis---my daughter, the mother, was extensively genetically tested and she does not have the gene for cystic fibrosis. 3 Who is correct? The doctor or the grandfather? PICK ME!!

WHY? 4 The grandfather! PICK ME!! WHY? 5

What is the difference between.. Having cystic fibrosis (or any other disease for that matter) or: Having a gene for cystic fibrosis? WHAT DO THE ABOVE TWO STATEMENTS MEAN? 6 CQ#1: Cystic fibrosis is:

a. b. c. d. e. an autosomal dominant disease an autosomal recessive disease a sex-linked dominant disease a sex-linked recessive disease

a spontaneous mutation 7 Draw Punnett squares that depict inheritance of all of the below:

an autosomal dominant disease an autosomal recessive disease a sex-linked dominant disease a sex-linked recessive disease 8 CQ #2 Which is the correct statement? (There could be more than one correct answer.)

a. One-fourth of the children of two carriers will get cystic fibrosis. b. 25% of the children of two carriers will get cystic fibrosis. c. 50% of the children of two carriers will get cystic fibrosis. d. There is a 25% chance that a child will have cystic fibrosis if both parents are carriers. e. There is a 25% chance that a second child will have cystic fibrosis if both parents are carriers.

9 Whatof?is What is this a picture this? Do you remember how this picture was made?

10 How was this karyotype made? What sex is this person? 11 If you wanted to have a little fun. .you could print, cut out,

and align THESE chromosomes! (optional) 12 What do you think chromosome painting is? 13 The gene is located at a certain spot, or

locus, on a chromosome. 14 Genes are composed of DNA Genes are located on chromosomes Book chromosome----- Gene chapter--------- DNA letters on a page15

Diagram of Chromosome 7 16 CF gene is on 7q What does that mean?? The CF gene is actually the CFTR gene. That stands for transmembrane conductance regulatory protein A NORMAL CFTR gene codes for a protein that regulates the passage

of chloride from the inside of the cell to the outside of the cell. People with CF have a MUTANT form of the CFTR gene and thus make an ABNORMAL or NON-FUNCTIONING CFTR protein. 17 CQ #3: Cystic fibrosis is a disease in which: a. there is a gene that produces a faulty red blood cell. b. the body produces no insulin.

c. there is a gene that produces a mucus that is too viscous. d. there is uncontrolled nervous activity. e. there is uncontrolled weight gain. 18 CQ #4 What is NOT a complication of cystic fibrosis? a.

b. c. d. e. Liver disease Portal hypertension (spleen enlarged) Pancreatic dysfunction Salty sweat Obesity

19 What does life expectancy mean? How is it determined and how might it change? 20

CQ #5 The mean life expectancy for someone with cystic fibrosis is: a. b.

c. d. e. 20 30 40 50 60

21 If the CFTR gene is 1540 amino acids long, how many DNA bases were necessary to code for the FUNCTIONAL part of the CFTR protein? 22 4,620

That is plenty of base pairs that might undergo mutations! 23 24 EXAMPLE: Mutant allele in PURPLE is most commonothers are

rarer in this study of Chinese patients. http://www.nature.com/articles/hgv201563 25 For homework, watch the two videos below and hand in a 2-3 page reaction paper for each. Video ILiving with Cystic Fibrosis https://www.youtube.com/watch?v=Dn0grhu9h4g&t=17s (Holly did a follow-up video in 2013 two yrs. later, but it is optional.

https:// www.youtube.com/watch?v=p5QBcwd6JwE&t=17s#t=40. 984222486 Video 2My Life Expectancy https://www.youtube.com/watch?v=mHfKs6n-mOo&t=2226 s

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