engleski

Analysis of alpha-1 antitrypsin phenotype and genotype in four families

Alpha-1 antitrypsin (Alpha- 1 AT) is a glycoprotein mainly synthesized in hepatocytes and alveolar macrophages. Deficiency alleles are associated with low serum levels of alpha -1 AT and can either be linked to liver disease and/or to early onset emphysema. The aim of our study was determination and comparison between alpha -1 AT phenotype and genotype in family studies. The phenotype and genotype were analyzed in four families (mother, father and child). Phenotypes were determined by isoelectric focusing on Pharmacia PAG-plate, pH 4.0-5.0. Genotypes were determined by the PCR-RFLP method, and electrophoretic analysis of restriction fragments on 3% MetaPhor agarose (FMC BioProduct). Phenotype- genotype discrepancy was found in only one case of a boy presented as ZZ phenotype, but MZ genotype. No discrepancies were found in his mother and father. His mother was MM, and father. MZ genotype and phenotype. Both the genotype and phenotype were reassessed in these subjects. The results indicated that this discrepancy was not due to sample mishandling or technical difficulties but a true discordance. Our preliminary results strongly indicated the need of both phenotype and genotype determination including family studies. The discrepancy of laboratory findings should not only be recognized, but should be thoroughly investigated to identify the possible causes of changes occurring along the gene-to-protein cycle.

alpha-1 antitrypsin; ZZ; MZ; genotyping; phenotyping; PCR-RFLP

nije evidentirano