Podcast
Questions and Answers
What is the most appropriate method to confirm the diagnosis of cystic fibrosis in Joe?
What is the most appropriate method to confirm the diagnosis of cystic fibrosis in Joe?
- Conduct a blood test to analyze the DNA for cystic fibrosis gene mutations
- Perform a sweat test to measure the chloride levels in the sweat (correct)
- Administer a chest X-ray to assess lung condition
- Undertake a sputum culture to identify specific bacteria causing infection
What is the significance of Joe's Na+ level of 87mmol/L in the sweat test?
What is the significance of Joe's Na+ level of 87mmol/L in the sweat test?
- It suggests a different respiratory condition unrelated to cystic fibrosis
- It indicates a potential risk for meconium ileus
- It is within the normal range and rules out cystic fibrosis
- It indicates elevated chloride levels, suggesting cystic fibrosis (correct)
What role does the CFM1 gene on Chromosome 19 play in cystic fibrosis?
What role does the CFM1 gene on Chromosome 19 play in cystic fibrosis?
- It may determine the risk of developing meconium ileus (correct)
- It regulates lung function in cystic fibrosis patients
- It directly causes cystic fibrosis symptoms
- It is responsible for the production of mucus in the respiratory system
What is the primary concern regarding cystic fibrosis pulmonary infection?
What is the primary concern regarding cystic fibrosis pulmonary infection?
What is the most common mutation found in 80-85% of hemochromatosis cases?
What is the most common mutation found in 80-85% of hemochromatosis cases?
Which mutation does not result in clinically manifest haemochromatosis when homozygous?
Which mutation does not result in clinically manifest haemochromatosis when homozygous?
Why is population screening not recommended for hemochromatosis?
Why is population screening not recommended for hemochromatosis?
What are the two main methods for diagnosing CF mutations?
What are the two main methods for diagnosing CF mutations?
How many classes are CF mutations categorized into based on their impact on protein production and function?
How many classes are CF mutations categorized into based on their impact on protein production and function?
What do CFTR modulator therapies aim to correct?
What do CFTR modulator therapies aim to correct?
What is the purpose of the new triple therapy Kaftrio, approved in 2020?
What is the purpose of the new triple therapy Kaftrio, approved in 2020?
What are the implications for Joe's extended family in relation to CF?
What are the implications for Joe's extended family in relation to CF?
What are the purposes of genetic screening for CF?
What are the purposes of genetic screening for CF?
How is newborn screening for CF established?
How is newborn screening for CF established?
Why is CF population carrier screening not implemented?
Why is CF population carrier screening not implemented?
What is used to design custom CFTR mutation panels for different geographic regions?
What is used to design custom CFTR mutation panels for different geographic regions?
What does screening for carriage of CF mutations depend on?
What does screening for carriage of CF mutations depend on?
What clinical condition is characterized by iron accumulation and associated with variant alleles of the HFE gene 6p21?
What clinical condition is characterized by iron accumulation and associated with variant alleles of the HFE gene 6p21?
Flashcards are hidden until you start studying
Study Notes
Cystic Fibrosis and Genetic Testing
- Cystic Fibrosis (CF) mutations can be diagnosed using a targeted mutation panel or by scanning exons with PCR amplification and Single Strand Conformation Polymorphism.
- CF mutations are categorized into five classes based on their impact on protein production and function.
- CFTR modulator therapies aim to correct the malfunctioning protein made by mutated CFTR, using read-through compounds, correctors, and potentiators.
- New triple therapy Kaftrio, approved in 2020, is designed to increase the quantity and function of the F508del-CFTR protein at the cell surface.
- Implications for Joe's extended family include the availability of carrier testing and cascade screening.
- Genetic screening for CF serves purposes such as carrier screening, testing of embryos, prenatal testing, and newborn screening for early detection and intervention.
- Newborn screening for CF is established through the Guthrie test, with a 1 in 1,500 prevalence.
- CF population carrier screening is not implemented due to ethical concerns and the need for complementary approaches.
- Screening adults for carriage involves testing for common mutations and using next-generation sequencing (NGS) for affordable genetic testing with a high detection rate.
- NGS is used to design custom CFTR mutation panels for different geographic regions, with around a 95% detection rate.
- Screening for carriage depends on ethnic background, with different mutation prevalences in various populations.
- Haemochromatosis is a clinical condition characterized by iron accumulation and is associated with variant alleles of the HFE gene 6p21, with phlebotomy as a treatment option.
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
