A. Autosomal Recessive
B. Autosomal Dominant
C. X linked recessive
D. X linked dominant
Ans:A. Autosomal recessive.
Image shows: α1-Antitrypsin deficiency. Periodic acid–Schiff stained histologic section of liver, highlighting the characteristic magenta cytoplasmic granules.
- α1-Antitrypsin (AAT) deficiency is an autosomal recessive disorder marked by abnormally low serum levels of this protease inhibitor.
- The major function of AAT is the inhibition of proteases, particularly neutrophil elastase released at sites of inflammation.
- AAT deficiency leads to pulmonary emphysema, because a relative lack of this protein permits the unrestrained activity of tissue-destructive proteases.
- Hepatic disease results from retention of mutant AAT in the liver.
- Hepatocytes in AAT deficiency contain round to oval cytoplasmic globules composed of retained AAT, a glycoprotein that is strongly positive in a periodic acid–Schiff stain .
- By electron microscopy they lie within smooth, and sometimes rough, endoplasmic reticulum