Alpha1 antitrypsin gene is on which chromosome?
Correct Answer: Chr 14
Description: 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.
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