CF

Question 1

CF-Mode of inheritance

Answer 1

Autosomal recessive

Question 2

CF-Prevalence of carriers in N. American Caucasian population

Answer 2

1:28

Question 3

CF-Prevalence of carriers in Ashkenazi Jews

Answer 3

1:24

Question 4

CF-Most common mutation

Answer 4

DeltaF508, results in deletion of phenylalanine (3NT deletion)
CFTR protein can’t fold properly, so the protein doesn’t escape the ER for further processing

Question 5

CF-All mutations cause dysfunction of…

Answer 5

CFTR gene and protein (protein is used in a membrane protein-chloride channel)

Question 6

CF diagnosed by

Answer 6

• Sweat test and genetic testing (CF panel has 85% rate of finding mutation)
• Newborn screening also done now

Question 7

CF- risk to offspring

Answer 7

• autosomal recessive disorder, so chance of inheriting disorder depends on status of both parents (ie if both carriers…)
• 25% chance of having an unaffected/non-carrier child
• 50% of having a carrier child
• 25% of having an affected child

Question 8

CF-drug targets

Answer 8

-treat symptoms of disease (antibiotics, breathing treatments, airway clearance, exercise, maintenance of immune system