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Figure 1 | Allergy, Asthma & Clinical Immunology

Figure 1

From: A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F/Null phenotype

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).

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Allergy, Asthma & Clinical Immunology

ISSN: 1710-1492

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