Podcast
Questions and Answers
Which gene mutation is most commonly associated with Cystic Fibrosis?
Which gene mutation is most commonly associated with Cystic Fibrosis?
- CFTR gene mutation
- Autosomal recessive gene mutation
- ΔF508 or Phe508del mutation (correct)
- Chromosome location 7q31 mutation
What is the function of the CFTR gene?
What is the function of the CFTR gene?
- Codes for chloride ion transport channel (correct)
- Results in intestinal obstruction
- Causes obstruction and chronic lung infection
- Leads to pancreatic insufficiency
Which of the following is a symptom of Cystic Fibrosis?
Which of the following is a symptom of Cystic Fibrosis?
- Intestinal obstruction
- Hepatic cirrhosis (correct)
- Higher incidence of pancreatic diseases
- Higher incidence of respiratory diseases
How is Cystic Fibrosis inherited?
How is Cystic Fibrosis inherited?
What is the impact of Cystic Fibrosis on the pancreas?
What is the impact of Cystic Fibrosis on the pancreas?
What is the effect of the CFTR gene mutation on the epithelial lining?
What is the effect of the CFTR gene mutation on the epithelial lining?
What is the chromosomal location of the CFTR gene?
What is the chromosomal location of the CFTR gene?
Which mutation is the most common cause of cystic fibrosis?
Which mutation is the most common cause of cystic fibrosis?
What is the primary function of CFTR protein?
What is the primary function of CFTR protein?
Which of the following is a secondary function of CFTR protein?
Which of the following is a secondary function of CFTR protein?
What is the effect of CFTR mutations on chloride secretion into the lumen?
What is the effect of CFTR mutations on chloride secretion into the lumen?
Which genetic modifier may affect the pulmonary manifestations of cystic fibrosis?
Which genetic modifier may affect the pulmonary manifestations of cystic fibrosis?
What is the consequence of CFTR loss of function in sweat ducts?
What is the consequence of CFTR loss of function in sweat ducts?
What is the normal function of CFTR in respiratory and intestinal cells?
What is the normal function of CFTR in respiratory and intestinal cells?
What are the pulmonary changes associated with cystic fibrosis?
What are the pulmonary changes associated with cystic fibrosis?
