CF - L2 Flashcards

1
Q

What is the pattern of inheritance of CFTR and the incidence? and carrier frequency

A

autosomal recessive
1 in 250,000
1 in 25

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What does being a carrier have a selective advantage for? (possibly)

A

cholera (you die from dehydration)
typhus (bacteria uses CFTR to enter cell)
asthma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are typical pedigree traits?

A

horizontal pattern

de novo mutations rare

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What phenotype are classes I, II & III usually associated with?

A

severe lung disease and PI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What phenotype are classes IV & V usually associated with?

A

PS and milder lung disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is the difference in penetrance of F508del and R117H?

A

F508del, usually severe PI

R117H, variable

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What does the penetrance of R117H depend on?

A

intragenic polymorphism in intron 8 on same allele in cis
R117H & 5T: likely to have disease symptoms
R117H & 7T: unlikely to have disease symptoms
R117H & 9T: highly unlikely for symptoms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How do you identify genetic modifiers of CF?

A

linkage
candidate gene association
GWAS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are some genetic modifiers of lung disease?

A

EDNRA: probable effect, smooth muscle tone
MBL2: probable effect, innate immunity
TGFB1: probable effect, regulating inflammation and tissue remodelling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are some genetic modifiers of intestinal obstruction?

A

MSRA: methionine sulphide reductase modifies intestinal enzymes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are some genetic modifiers of diabetes?

A

TCF7L2: proliferation and function of beta cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are some environmental modifiers?

A

female
economic status
tobacco
infectious exposures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What types of screening are there for CF?

A

newborn
cascade
population carrier

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the stages of newborn screening?

A
IRT levels
DNA testing
If one CF mutation:
sweat test
carrier or CF
How well did you know this?
1
Not at all
2
3
4
5
Perfectly