Genetics

Question 1

In clinical practice would you sequence the whole genome or just the exons?

Answer 1

Just the exons

Question 2

In clinical practice with a child with a potential genetic syndrome, who’s exons would you sequence?

Answer 2

The child’s and their parents

Question 3

What is the genetic test for CF and why?

Answer 3

Targeted analysis for 50 CF gene mutations
Cheaper than sequencing the whole CF gene (second line if strong clinical suspicion but doesn’t have one of the 50 common mutations)

Question 4

Can you do non-invasive pre-natal testing for CF?

Answer 4

Yes if both parents are carriers with different mutations

Question 5

What CF mutation can ivacaftor treat?

Answer 5

G551D

Question 6

What is one of the strongest bits of evidence that a mutation in an affected gene has caused a genetic syndrome that is present in the child but not parents?

Answer 6

That the mutation is present in the child but not the parents

Question 7

What syndrome is caused by PTEN mutation?

Answer 7

Cowden syndrome

Question 8

What malignant cancer is Cowden syndrome most associated with?

Answer 8

Thyroid cancer

Question 9

Name a gene in which mutation can cause Alzheimers in a mendelian inheritance?

Answer 9

Presenilin