a1 -antitrypsin deficiency chromosome is located at:
B i.e. 14Robbins Pathology, 9th edition, page 850Explanation:Alpha 1-Antitrypsin Deficiency:a1-Antitrypsin deficiency is an autosomal recessive disorder of protein folding marked by very low levels ofcirculating a1-Antitrypsin (a1AT).a1AT deficiency leads to the development of pulmonary emphysema, because the activity of destructive proteases is not inhibited.It also causes chronic liver disease as a consequence of hepatocellular accumulation of the misfolded protein.Cutaneous necrotizing panniculitis also occurs in a minor subset of patients.The gene, located on chromosome 14.The most common clinically significant mutation is PiZZ; homozygotes for the PiZZ protein have circulating a1AT levels that are only 10% of normal.a1AT deficiency is characterized by the presence of round-to-oval cytoplasmic globular inclusions in hepatocytes, which on routine hematoxylin and eosin stains are acidophilic, but are strongly periodic acid-Schiff (PAS)-positive and diastase-resistant.
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Genetics