41 Questions
What is the implication of having one LP/P variant identified in a child?
The child may have cystic fibrosis
What is the purpose of cascade testing?
To identify carriers who are relatives of a diagnosed individual
What was the result of a study on NBS in VIC regarding genetic testing of eligible relatives?
12% of eligible relatives underwent genetic testing
What type of tests are used in population carrier screening and reproductive carrier screening?
Gene panel or clinical exome sequencing tests
What is the 'narrow' screening panel funded by Medicare?
CF, SMA, and FXS
How are test results reported for individuals or couples in population carrier screening and reproductive carrier screening?
Carrier status is reported for individuals and couples
What is the primary goal of positional cloning in genetics?
To determine the exact chromosomal location of a gene of interest
What is the function of the CFTR protein?
To regulate anion transport and mucociliary clearance
Which of the following is a characteristic of the CFTR protein?
It is a gated transmembrane chloride ion channel
What is the role of NBD1 and NBD2 in the CFTR protein?
They bind and hydrolyze ATP
What is the outcome of ATP binding to the CFTR channel?
The channel is maximally activated
What is the purpose of the regulatory domain in the CFTR protein?
To render the channel phosphorylatable
What is the characteristic of the gating of CFTR channels?
It shows a bursting behavior with brief flickery closed events
Which of the following is a subfamily of the ABC superfamily of membrane transporters?
ABCC
What is the effect of PKA phosphorylation on the CFTR channel?
It temporarily traps the R domain in a permissive position
What is the role of the C-terminus of the CFTR protein?
It anchors the protein to the cytoskeleton
What is the significance of establishing the phase of a variant in the CFTR gene?
To determine on which allele the variant lies
What is the primary diagnostic test for cystic fibrosis?
CFTR gene sequencing
What is the purpose of pilocarpine iontophoresis in the sweat test?
To stimulate sweating
What is the cutoff value for a sweat chloride test result that is consistent with cystic fibrosis?
> 60 mmol/L
What is the next step after identifying elevated IRT levels in newborn screening?
Genetic testing using a panel of known common LP / P gene variants
How many LP / P CFTR gene variants are included in the newborn screening test?
12 LP / P variants
What percentage of patients with cystic fibrosis have nasal polyps?
10-30%
What is the main goal of treating cystic fibrosis?
To maintain lung function and prevent further complications
What is the name of the first therapy to target the underlying defect in cystic fibrosis?
Ivacaftor
In what year was Ivacaftor approved by the European Medicines Agency?
2013
What is the name of the protein that is defective in cystic fibrosis?
CFTR
What is the name of the class of mutations that Ivacaftor targets?
Class III
What is the name of the specific mutation that Ivacaftor was first approved for?
G551D
What is the name of the medication that was approved for patients with the R117H mutation?
Ivacaftor
How many patients with the G551D mutation were followed for 5.5 years in a clinical trial?
96
What is the annual cost of Ivacaftor treatment per patient?
$294,000
In the respiratory system, where is the mucus produced?
Serous cells of submucosal glands
What is the primary function of cilia in the respiratory system?
To constantly beat and move the layer of mucus
What is the name of the test used to measure lung function?
Spirometry
What is the result of CFTR dysfunction in the airways?
Dehydration of the airway surface liquid
What is the most common bacterium that infects children with cystic fibrosis?
Staphylococcus aureus
What is the result of pancreatic enzyme insufficiency in cystic fibrosis?
Malabsorption of fats
What is the goal of nutritional management in cystic fibrosis?
To increase caloric intake
What is the name of the medication used to thin mucus in cystic fibrosis?
Pulmozyme
What is the result of chronic lung disease in cystic fibrosis?
All of the above
Learn about the positional cloning technique used to identify genes of interest, including the CFTR gene, which codes for an ion channel protein and is associated with cystic fibrosis. Understand the chromosomal location, coding region, and exons of the CFTR gene.
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