A 40-year-old non-smoker presents with progressive dyspnea and liver cirrhosis. Liver biopsy shows PAS-positive, diastase-resistant globules within periportal hepatocytes. Which chromosome carries the gene responsible for this condition?

• A Chromosome 7
• B Chromosome 21
• C Chromosome 19
• D Chromosome 14 ✓

Explanation

Alpha-1 antitrypsin deficiency is caused by mutations in the SERPINA1 gene located on chromosome 14q32.1. The Z allele (Glu342Lys) causes polymerization and accumulation of misfolded alpha-1 antitrypsin protein in the hepatocyte endoplasmic reticulum, visible as PAS-positive, diastase-resistant globules. It causes both liver disease (cirrhosis, hepatocellular carcinoma) and early-onset panacinar emphysema.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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