The molecule encoded by SERPINA1 consists of 418 amino acids, with the first 24 being the signal peptide and the remaining encoding the mature protein. Molecular genetic testing for AATD includes sequence analysis and gene-targeted deletion/duplication analysis.
AATD is inherited in an autosomal codominant manner, where offspring inherit one copy of the gene from each parent.
Evaluation of sibs, parents, and children of an individual with severe AATD can identify those who would benefit from surveillance, treatment, and preventive measures. Serum AAT level measurement is unreliable for carrier status due to an overlap in levels with normal serum ranges and acute-phase reactant effects, which may lead to diagnostic confounding.
SERPINA1