Genetics

Question 1

Which allele is commonly associated with alpha1-antitrypsin deficiency?

Answer 1

Z allele

Gene is expressed primarily in the liver where alpha1-antitrypsin is synthesized.

Question 2

Why does cigarette smoking have a dramatic influence on development of emphysema in alpha1-antitrypsin deficiency?

Answer 2

It oxidizes methionine in the active site of the enzyme, decreasing its affinity for elastase