Extra Info From Study

Question 0

CF prevalence

Answer 0

1 in 2500

Question 1

Prevalence of PKU

Answer 1

1 in 14000

Question 2

Prevalence of Ehlers Danlos syndrome

Answer 2

1 in 10000

Question 3

Causes of thrombophilia

Answer 3

• genetic
• anti phospholipid
• malignancy
• pregnancy or high oestrogen

Question 4

Pro coagulation genetic causes

Answer 4

Leiden mutation
Pro thrombin mutation
Reduced anti thrombin, protein c or I
Increased factor 8

Question 5

Result of congenital rubella syndrome

Answer 5

Microcephaly
Cataracts
Congenital heart defects
Deafness

Question 6

Viruses that interfere PKR pathway through interferons

Answer 6

• Adenovirus and EBV - interfere with PKR by making abundant small stretches of RNA
• reovirus and vaccinia - interfere with dsDNA cofactor
• vaccinia - interferes with eIF2