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Pediatrics Genetics And Genetic Disorders 8f20fc8a

Alpha1 antitrypsin gene is on which chromosome?

A
Chr 11
B
Chr12
C
Chr 13
D
Chr 14
High-Yield Explanation
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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