1
Q
Define penetrance
A
- The likelihood of having a disease in you have a gene mutation
2
Q
Define mendelian disorders
A
- diseases that are caused by a single gene
3
Q
How does NGS work?
A
- breaking up genome into smaller pieces and comparing to a reference genome
4
Q
Define a variant
A
- any change in DNA sequence
5
Q
Define a mutation
A
- pathogenic variant
6
Q
Define a polymorphism
A
- prevalent in general population
- imply benign
- low pentrance
7
Q
What is a class 1 variant
A
- definitely benign
8
Q
What is a class 4 variant
A
- probably pathogenic
9
Q
what is a class 5 variant
A
- definitely pathogenic
10
Q
Advantage of using exon sequencing
A
- much quicker
- more likely to be pathogenic
11
Q
TGFBR1 and TGFBR2 mutations are associated with what?
A
- dissecting aorta aneurysm
12
Q
Marfan syndrome is a mutation in what gene?
A
- fibrillin mutation
13
Q
Signs of marfan syndrome
A
- dilated ascending aorta
- long limbs
- dislocated eye lens
14
Q
Bifid uvula may be a sign of?
A
- Loeys Dietz syndrome
15
Q
Long QT syndrome has a risk of what?
A
- cardiac arrythmia
- torsades de pointe
16
Q
Gene mutations associated with Long QT syndrome?
A
- KCNQ1
- KCNH2
17
Q
LDLR mutation has high penetrance for what condition?
A
- familial hypercholesterolemia
Sudden death - CLASP
flashcards
Decks in class (4)
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