engleski

A1-antitrypsin phenotyping in patients with liver disease

Alpha1-antitrypsin (A1AT) deficiency is an autosomal codominantly inherited disease characterized by decreased A1AT serum level and significant risk of developing emphisema and liver disease. Molecular basis of this disorder lies in single base mutation of A1AT gene The aim of this study was to determine the frequency of A1AT deficiency alleles among the patients with liver disease compared to a control group of healthy volunteers. A1AT phenotype was determined in 53 sera from patients with liver disease (42 adults and 11 children) and 32 sera from healthy volunteers, using isoelectric focusing on Ampholyn polyacrylamide gels, within pH range of 4-5 (Pharmacia LKB). A1AT was determined by radial immunodiffusion. In the group of liver disease patients: 3 PI MS and 39 PI MM among adults, and 3 PI MZ, 1 PIZZ and 7 PI MM among children phenotypes were detected. In the group of adult patients the levels of A1AT was low in 15% whereas among children patients in 36%. In the group of healthy volunteers 2 PI MS and 30 PI MM phenotypes were detected, whereas A1AT were within reference range. In our study, Z deficiency allele (both in homozygous and heterozygous form), were found only in patients with clinical and laboratory established liver disease, whereas S deficiency allele was presented both in patients with liver disease as well as in healthy subjects.

alpha1-antitrypsin; A1AT; phenotype; isoelectric focusing

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