W10: AATD, Augmentation therapy, Nonsense readthrough therapy

Question 1

AATD: what allele/s are associated with risk of emphysema:
a) M
b) S
c) Z
d) Null

Answer 1

Z and Null alleles

Question 3

AATD: what allele/s are associated with risk of liver disease:
a) M
b) S
c) Z
d) Null

Answer 3

Only Z allele
Not null allele - as there is no protein production, aberrant protein cannot build-up/aggregate