Alpha1 antitrypsin gene is on which chromosome?: (A) Chr 11, (B) Chr12, (C) Chr 13, (D) Chr 14
Answer is D. d. Chr 14(Ref: Nelson 20/e p 1941, 2053)a1-Antitrypsin deficiencyIt is caused by mutation in SERPINA1 gene (chr 14q), which has autosomal recessive inheritance.a1-Antitrypsin, a protease inhibitor synthesized by liver, protects lung tissue from destruction by neutrophil elastase;Most common allele of protease inhibitor (Pi) system is M & the normal phenotype is PiMM.