ELISA for Specific Detection of PiZ-Related α1-Antitrypsin Deficiency

α1-Antitrypsin (AAT) deficiency is a hereditary autosomal disorder resulting from a variety of mutations in the AAT gene. The most common severe deficiency variant of AAT is Z, which has been identified in most populations but occurs most frequently in northwest Europe. The frequency of the Z allele in the US population of European descent is between 0.01 and 0.02, with the homozygous deficiency affecting 1 in every 2000 to 7000 individuals. In Scandinavia, the frequency of the Z allele is considerably higher: at birth, 1 of every 1600 babies is homozygous for the Z allele. Individuals homozygous for the AAT Z allele have a high risk for developing early-onset pulmonary emphysema and/or abnormal liver function in infancy that may lead to complete liver failure. The Z allele is also suspected in patients with Wegener granulomatosis and panniculitis. Here we briefly describe a simple and accurate new ELISA-based test for identifying carriers of the AAT Z allele.