15 Questions
Which gene mutation is most commonly associated with Cystic Fibrosis?
ΔF508 or Phe508del mutation
What is the function of the CFTR gene?
Codes for chloride ion transport channel
Which of the following is a symptom of Cystic Fibrosis?
Hepatic cirrhosis
How is Cystic Fibrosis inherited?
Autosomal recessive
What is the impact of Cystic Fibrosis on the pancreas?
Pancreatic insufficiency
What is the effect of the CFTR gene mutation on the epithelial lining?
Thick secretions causing obstruction and infection
What is the chromosomal location of the CFTR gene?
7q31
Which mutation is the most common cause of cystic fibrosis?
F508del
What is the primary function of CFTR protein?
Chloride Conductance Channel
Which of the following is a secondary function of CFTR protein?
Regulation of bicarbonate ions
What is the effect of CFTR mutations on chloride secretion into the lumen?
Decreased secretion
Which genetic modifier may affect the pulmonary manifestations of cystic fibrosis?
Mannose-binding lectin 2
What is the consequence of CFTR loss of function in sweat ducts?
Salt depletion and heat stroke
What is the normal function of CFTR in respiratory and intestinal cells?
Active secretion of chloride into the lumen
What are the pulmonary changes associated with cystic fibrosis?
Mucopurulent secretions and progressive lung damage
Test your knowledge on the inheritance patterns and characteristics of Cystic Fibrosis, a genetic disorder caused by mutations in the CFTR gene. Learn about the effects it has on the respiratory, digestive, and reproductive systems, as well as its association with lung infections, pancreatic insufficiency, hepatic cirrhosis, and intestinal obstruction.
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