Cystic Fibrosis

Question 1

CFTR stands for

Answer 1

Cystic Fibrosis Transmembrane Conductance Regulator

Question 2

Affects all organs that generate ____

Answer 2

mucus

Question 3

organs that generate mucus

Answer 3

ENT, Lungs, GI, Sex organs

Question 4

allow chloride ions to exit the mucus-producing cells

Answer 4

The role of the CFTR

Question 5

In CF, the defective CFTR protein does not allow ___ ____ out of mucus-producing cells

Answer 5

chloride ions

Question 6

Cystic fibrosis is
____ _____

Answer 6

autosomal recessive

Question 7

Three-nucleotide deletion of _____ _____ in 70% patients

Answer 7

codon 508 (phenylalanine)

Single amino acid change!

Question 8

ΔF508 _____ mutation l

Answer 8

Deletion

Question 9

The screening test loos for elevated levels of a substance called _____ ______, which is an enzyme produced by the pancreas

Answer 9

immunoreactive trypsinogen (IRT)

Question 10

The ___ ____test, or sweat test, has been the gold standard test used to diagnose cystic fibrosis for many years

Answer 10

sweat chloride

Question 11

A chloride content greater than ____ mmol/liter is considered a positive result

Answer 11

60

Question 12

IRT - Immunoreactive trypsinogen

Answer 12

Traditional Screen Test

Question 13

• Testing for known single-nucleotide variants.
• Initial setup/design must be performed carefully because mutation detection is on the basis of absence of PCR products

Answer 13

Allele-specific PCR

Question 14

Rapid, scalable testing for known single-nucleotide variants

Answer 14

Array-based testing

Question 15

• Gold standard for detection of unknown variants
• Sequence variants are verified by sequencing of the opposite strand

Answer 15

Sequencing

Question 16

• High output and economical on a per-base basis.
• Shorter reads and complex interpretation
• Relatively expensive setup

Answer 16

Next-generation sequencing

Question 17

ASOx

Answer 17

mutant cystic fibrosis gene

Question 18

ASOn

Answer 18

WT