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15 Questions

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Cystic Fibrosis

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Questions and Answers

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?

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?

Intestinal obstruction

Hepatic cirrhosis (correct)

Higher incidence of pancreatic diseases

Higher incidence of respiratory diseases

How is Cystic Fibrosis inherited?

Autosomal recessive Signup and view all the answers

What is the impact of Cystic Fibrosis on the pancreas?

Pancreatic insufficiency Signup and view all the answers

What is the effect of the CFTR gene mutation on the epithelial lining?

Thick secretions causing obstruction and infection Signup and view all the answers

What is the chromosomal location of the CFTR gene?

7q31 Signup and view all the answers

Which mutation is the most common cause of cystic fibrosis?

F508del Signup and view all the answers

What is the primary function of CFTR protein?

Chloride Conductance Channel Signup and view all the answers

Which of the following is a secondary function of CFTR protein?

Regulation of bicarbonate ions Signup and view all the answers

What is the effect of CFTR mutations on chloride secretion into the lumen?

Decreased secretion Signup and view all the answers

Which genetic modifier may affect the pulmonary manifestations of cystic fibrosis?

Mannose-binding lectin 2 Signup and view all the answers

What is the consequence of CFTR loss of function in sweat ducts?

Salt depletion and heat stroke Signup and view all the answers

What is the normal function of CFTR in respiratory and intestinal cells?

Active secretion of chloride into the lumen Signup and view all the answers

What are the pulmonary changes associated with cystic fibrosis?

Mucopurulent secretions and progressive lung damage Signup and view all the answers