Prenatal Diagnosis of α1-Antitrypsin Deficiency by Direct Analysis of the Mutation Site in the Gene

A GENETIC deficiency of the plasma protease inhibitor α1-antitrypsin can lead to degenerative lung disease and fatal cirrhosis of the liver.1 , 2 The most common form of the deficiency, which occurs in persons who are homozygous for a Piz phenotype of the protein, has a prevalence of approximately one case per 2000 whites.3 A majority of the homozygous ZZ patients with the severe deficiency syndrome will contract chronic obstructive pulmonary emphysema, and 14 per cent will die of liver disease during early infancy.4 Previously, prenatal diagnosis of α1-antitrypsin deficiency has been possible only by Pi typing of blood samples . . .