Multiple choice

The mutation in SERPINA1 gene causes

  1. hemochromatosis

  2. Wilson disease

  3. Cystic fibrosis

  4. α1-antitrypsin deficiency
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

It is an autosomal recessive disease. It results from the mutation in SERPINA1 gene, which encodes α1-antitrypsin, a protease inhibitor. Lack of α1-antitrypsin in the lung leads to pulmonary damage due to inflammation.

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