What are the symptoms observed in Cystic Fibrosis Patients

1
What are the symptoms observed in Cystic Fibrosis
Patients?
1. 2. 3. 4.
Thick mucus in airways and lungs and breathing
problems
Chronic lung infections
Digestive problems that lead to poor growth
Increased salty sweat
X
X
X
X
2
Genotype Nomenclature What is the carrier
status?
1. 2. 3.
Non-carrier of CF
CC
Carrier of CF
Cc
CF patient
cc
X
X
X
X
3
What Do the letters in ELSI stand for?
1. 2. 3. 4.
Ethical
E
Legal
L
Social
S
Implications
I
X
X
X
X
4
What do you know about CFTR
1. 2. 3. 4. 5.
It stands for cystic fibrosis transmembrane
conductance regulator
It functions as a chloride ion channel
It is localized to the plasma membrane
Cystic fibrosis is caused by a mutation in the
CFTR gene
There are over 400 different mutations known for
CFTR gene
X
X
X
X
5
Mucus, Mucus, Mucus
1. 2. 3. 4. 5.
Traps dust, dirt, germs in the lining of your
nose, trachea and lungs
What does mucus do?
Tiny hairs that push mucus out of your lungs and
into your throat
What are cilia?
Mucus glands
Where is mucus made?
The system of mucus and cilia that rids our lungs
of bacteria
What is the mucociliary escalator?
There are over 400 different mutations known for
CFTR gene
What is different about the mucus of people with
CF?
X
X
X
X
6
What about water inside our cells?
1. 2. 3. 4.
Water is drawn into our cells
If the concentration of chloride ions is higher
inside the cell?
Channels
How does it cross the cell membrane?
Water is drawn out of the cell
If the concentration of chloride ions is higher
outside the cell?
Osmosis
What is the process of water following the
concentration gradient called?
X
X
X
X
7
Making CFTR Protein
1. 2. 3. 4. 5.
On the chromosome
Where is the CFTR gene found
In the cell nucleus
Where does transcription occur?
Cell cytoplasm
Where does translation occur?
What is the CFTR gene transcribed into?
CFTR messenger RNA
CTFR protein
What is the CFTR mRNA translated into?
X
X
X
X