Cystic Fibrosis Case Study

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Name: _________

Group # and name :________

Homework 1.

Scenario 1:
Instructions: This is a fictional case study where a young couple visits a genetic counselor to
understand their risk of conceiving a child with cystic fibrosis. You will play the role of Dr.
Parks, their genetic counselor. Use your knowledge of inheritance patterns, genotype-phenotype
relationships and other genetic concepts to answer the questions.

Sarah stared blankly at the blue paisley wallpaper. Her husband Mike sat by her side,
bending and unbending a small paper clip.

“Sarah and Michael, it’s good to meet you,” welcomed the genetic counselor, Dr. Park, as she
entered the room. “I apologize for being late, but I was just meeting with another couple. Let’s
see, you’d like to have a child, but you’re concerned because of your family history of cystic
fibrosis.”

“Yes,” Sarah replied softly. “Mike and I met at a cystic fibrosis support group meeting a few
years ago. He had a younger brother who died of cystic fibrosis, and I had a younger sister. We
saw the painful lives they had—difficulty breathing, the constant respiratory infections.
Although the treatments for cystic fibrosis are better now, we just don’t know if we can…” she
trailed off.

“I can certainly understand your concern,” the genetic counselor responded sympathetically.
“That’s where I hope to help, by providing as much information and advice as I can. I’m glad
that you came to see me before you became pregnant so I can fully advise you of all options
beforehand.”

“To start, let’s go over what we know about your case so far,” continued the genetic counselor.
She pulled out a pad of paper, which she placed on the table in front of Sarah and Michael, and
began to draw a series of circles and squares connected by lines.

“As I recall, both sets of parents did not display any of the symptoms of cystic fibrosis, right?”

“Yes,” said Sarah and Michael in unison.

“Ok, well that means”…


Q1. Assume that cystic fibrosis is a single gene disorder. Draw a pedigree showing the family
history of cystic fibrosis in Sarah and Michael’s families. Predict all possible genotypes for each
person in the pedigree. [Hint: For some individuals, there might be more than one possible
genotype. Write all possible genotypes.]

Q2. Based on the pedigree predict the mode of inheritance (recessive/dominant) for cystic
fibrosis. Write a scientific argument to support your claim. [Note: Scientific explanations consist
of Claim, Evidence, Reasons/Warrants.] (1 - 3 Sentences)

Sarah interrupted. "Dr. Park, what exactly causes cystic fibrosis?”

"Cystic fibrosis is caused by a mutation in a gene called CFTR. A normal CFTR gene carries the
instructions to make a protein that allows chloride to pass out of a cell. When chloride moves, it
causes water to follow and secretions are formed outside the cells. Some people have mutant
CFTR genes that create defective CFTR proteins or no CFTR protein at all. The lack of a
functional CFTR protein means that not enough chloride moves out of the cells, in turn causing
less water to move. The reduced water content causes the secretions to be thicker than normal.
This thick, sticky mucus usually has its worst effects on the lungs and the pancreas. Normally, a
thin layer of mucus coats the bronchioles and bronchial tubes in our lungs. This mucus traps dirt
and germs and continually travels to the throat. Thus, the mucus removes the bad stuff from our
lungs. In cystic fibrosis patients, the thicker mucus in the lungs can't be moved out as easily. This
accumulation of mucus can block the air passageways. Worse yet, it allows bacteria to get
trapped in the lungs where they can cause debilitating infections. While most of the symptoms of
cystic fibrosis can be treated pretty effectively now, the continual stress and recurring infections
in the lungs means that patients today still die in their 30s or earlier."
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Q3. Use a box and arrow model to explain how certain genotype(s) result in cystic fibrosis.
[Note: box and arrow models must have; 1. A legend/title 2. A purpose, or objective. Structures,
or components in boxes 4. Relationships, or mechanisms (how the elements interact – write this
on the arrow!) 5. It can have branches]

“So do we need to be worried? Could our child suffer from cystic fibrosis?” Sarah asked Dr.
Park. “Well, because you don’t have cystic fibrosis, we need to know what alleles you have. The
next step is to sequence the CFTR gene from you and Michael and find out if either of you have
a mutant CFTR allele. Once we have that information…”

Q4. Once sequencing of the CFTR gene is complete, you would have the genotypes of Sarah and
Michael.
a. From the sequencing results, what would Sarah and Michael’s genotypes have to be for it
to be possible for them to have a child with cystic fibrosis.

b. From the sequencing results, what would Sarah and Michael’s genotypes have to be so
that they do not need to worry about having a child with cystic fibrosis.

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Scenario 2:
The National Institutes of Health is one of the main government agencies that provide funding
for scientific research in the USA. You are a member of an NIH funding panel with a budget of 1
million dollars. Your job is to decide which proposed research project to fund.

Things you should keep in mind are: Impact of the project (How much will the research
affect/further scientific progress?), human benefit (How likely will the research impact human
health?), cost vs. potential benefit… How much you consider each of these factors is important is
up to you.

You can give all the money to one proposal, or divide it in any proportion you choose (example:
50% to proposal A and 50 % to proposal B).

Research proposal 1. The study of a ‘DNA repeat structure’ found in Haloferax


mediterranei, a microorganism that can survive in extremely high salt conditions.
Summary: H. mediterranei is a microbe that can survive in extremely high salt conditions. The
presence of similar repeat structures in multiple salt tolerant microbes may indicate its
importance in establishing salt tolerance. Other repeats with similar structure have also been
potentially identified in other microbial species, indicating that the repeats likely play an
important role in bacteria. Based on preliminary evidence, here are some hypotheses for the role
of these repeats in bacteria: Bacterial gene regulation, bacterial DNA repair…

Research proposal 2. Using gene Therapy as a cure for single gene disorder cystic fibrosis.
Summary: Cystic fibrosis is a single gene disorder that is caused by a mutation in the CFTR
gene. Recent medical progress has resulted in multiple treatments for patients with CF that treat
the symptoms. However, there is no cure for this disorder and CF patients today are still likely to
die in their thirties. With gene therapy, we could replace the mutant CFTR allele in patients with
a normal copy, thus resulting in a permanent cure. The normal copy could potentially be targeted
specifically to affected organs such as lungs, thus alleviating symptoms permanently.

Q5. Make a decision and give a SHORT explanation [NO more than one paragraph] as to why
you came to this decision. Keep in mind that you might be asked to defend your decision before
Congress and the general public.

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For class on Tuesday, January 22nd.
Be prepared to define: chromatin, chromosomes, homologous chromosomes, sister chromatids,
alleles, genetic loci, centromeres, telomeres.
Be prepared to draw and label: homologous chromosomes, sister chromatids, alleles, genetic
loci, centromeres, telomeres.

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