Figure 1.

Identification of the patient's phenotype and genotype. A, Determination of phenotype by IEF of A1AT isotypes in the patient and controls. Comparison of the patient's sample with controls of the M/M, M/F, and M/Z phenotype revealed that the patient's serum contained only F bands (M, F, Z bands indicated by labels on gel). B, DNA sequencing of exon 4 demonstrated a T/C SNP at nucleotide 739 (R247C). C, sequencing of exon 5 showed the presence of a normal allele (C) and a C insertion at nucleotide 1158 (D).