Genetics

Question 1

Define penetrance

Answer 1

• The likelihood of having a disease in you have a gene mutation

Question 2

Define mendelian disorders

Answer 2

• diseases that are caused by a single gene

Question 3

How does NGS work?

Answer 3

• breaking up genome into smaller pieces and comparing to a reference genome

Question 4

Define a variant

Answer 4

• any change in DNA sequence

Question 5

Define a mutation

Answer 5

• pathogenic variant

Question 6

Define a polymorphism

Answer 6

• prevalent in general population
• imply benign
• low pentrance

Question 7

What is a class 1 variant

Answer 7

• definitely benign

Question 8

What is a class 4 variant

Answer 8

• probably pathogenic

Question 9

what is a class 5 variant

Answer 9

• definitely pathogenic

Question 10

Advantage of using exon sequencing

Answer 10

• much quicker

- more likely to be pathogenic

Question 11

TGFBR1 and TGFBR2 mutations are associated with what?

Answer 11

• dissecting aorta aneurysm

Question 12

Marfan syndrome is a mutation in what gene?

Answer 12

• fibrillin mutation

Question 13

Signs of marfan syndrome

Answer 13

• dilated ascending aorta
• long limbs
• dislocated eye lens

Question 14

Bifid uvula may be a sign of?

Answer 14

• Loeys Dietz syndrome

Question 15

Long QT syndrome has a risk of what?

Answer 15

• cardiac arrythmia

- torsades de pointe

Question 16

Gene mutations associated with Long QT syndrome?

Answer 16

• KCNQ1

- KCNH2

Question 17

LDLR mutation has high penetrance for what condition?

Answer 17

• familial hypercholesterolemia