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Topic 2: Genes and Health
2.5 Inheritance of Genetic Disorders
2.5.1 Cystic Fibrosis
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What type of disorder is Cystic Fibrosis?
Genetic
Cystic Fibrosis is caused by mutations in the
CFTR
The CFTR protein functions as a channel for potassium ions.
False
What is the most common mutation in the CFTR gene that causes CF?
ΔF508
Cystic Fibrosis follows an
autosomal
recessive inheritance pattern.
Excessive mucus production is a common symptom of
Cystic Fibrosis
.
Steps in the diagnosis of Cystic Fibrosis
1️⃣ Newborn screening
2️⃣ Sweat test
3️⃣ Genetic testing
Genetic counseling for Cystic Fibrosis helps carriers understand their
risks
Current research in
Cystic Fibrosis
focuses on improving treatment options.
Which organs are affected by Cystic Fibrosis?
Lungs, pancreas, digestive system
Match the function of the CFTR protein with its description:
Chloride ion channel ↔️ Regulates fluid balance
Membrane protein ↔️ Embedded in cell membranes
Fluid regulation ↔️ Ensures adequate mucus secretion
Which mutation in the CFTR gene is caused by the deletion of a phenylalanine residue?
ΔF508
Cystic Fibrosis is inherited through
autosomal
recessive inheritance.
If both parents are carriers of the CFTR gene, their offspring have a
25%
chance of developing CF.
What are the primary symptoms of Cystic Fibrosis?
Excessive mucus, lung infections
What type of disorder is Cystic Fibrosis?
Genetic disorder
Cystic Fibrosis is caused by mutations in the
CFTR
Cystic Fibrosis primarily affects the lungs, pancreas, and
digestive system
.
What is a main symptom of Cystic Fibrosis related to mucus production?
Excessive mucus production
The CFTR protein regulates fluid flow across cell
membranes
What does the CFTR protein function as in cell membranes?
Chloride ion channel
The CFTR
protein
is essential for regulating fluid balance in the lungs and pancreas.
The CFTR protein regulates the flow of fluids in organs like the lungs and
pancreas
Where is the CFTR protein located in the body?
Cell membranes of organs
Steps in the ΔF508 mutation process
1️⃣ Phenylalanine is removed at position 508
2️⃣ Protein misfolds
3️⃣ Protein is degraded
Cystic Fibrosis is inherited through autosomal
recessive
Individuals with Cystic Fibrosis must inherit one copy of the mutated gene from each parent.
False
What is the phenotype of an individual with the Cc genotype in CF inheritance?
Carrier (no symptoms)
In a Punnett square of two carrier parents, 25% of offspring inherit CC and are
normal
What is a key symptom of Cystic Fibrosis in the lungs?
Excessive mucus production
Match the symptom of Cystic Fibrosis with the affected organ/system:
Excessive mucus production ↔️ Lungs
Digestive issues ↔️ Pancreas
Cystic Fibrosis symptoms include excessive mucus production in the lungs, which causes breathing
difficulties
Frequent lung infections in Cystic Fibrosis are caused by the accumulation of
mucus
in the airways.
The symptoms of Cystic Fibrosis arise from a defective
CFTR
protein.
Excessive mucus production is a symptom of
Cystic Fibrosis
.
Digestive issues in Cystic Fibrosis are caused by pancreatic
insufficiency
.
Order the diagnostic tests for Cystic Fibrosis from earliest to most confirmatory:
1️⃣ Newborn Screening
2️⃣ Sweat Chloride Test
3️⃣ Genetic Testing
What enzyme is analyzed in newborn screening for Cystic Fibrosis?
Immunoreactive trypsinogen (IRT)
The Sweat Chloride Test is considered the "
gold standard
" for CF diagnosis.
A sweat chloride level of
60
mmol/L is considered positive for Cystic Fibrosis.
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