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In an attempt to find a molecular marker for the putative abnormal allele in heterozygous alpha 1-antichymotrypsin (ACT) deficiency (a rare trait associated with early emphysema, childhood asthma and chronic "cryptogenic" liver disease) the isoelectric focusing pattern of neuraminidase treated plasma samples from subjects of ACT deficiency families as well as acute phase plasma were compared. There was no difference in the isoform pattern of plasma from ACT deficiency heterozygotes, normal subjects or patients with acute phase response. However, in acute phase plasma there was a disproportional increase in two isoforms, one of which conceivably may be used to mark the early phase of the acute phase response.
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