Analysis of alpha-1-antytrypsin phenotypes and genotypes in patients with early-onset pulmonary emphysema

Szymon Dworniczak; Dariusz Ziora; Leszek Konofalski; Monika Szalaty; Anna Kowalska; Jerzy Kozielski

Vol 73, No 1-2 (2005)

Research paper

Submitted: 2013-02-22

Published online: 2008-02-18

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Analysis of alpha-1-antytrypsin phenotypes and genotypes in patients with early-onset pulmonary emphysema

Szymon Dworniczak, Dariusz Ziora, Leszek Konofalski, Monika Szalaty, Anna Kowalska, Jerzy Kozielski

Pneumonol Alergol Pol 2005;73(1-2):12-17.

Vol 73, No 1-2 (2005)

ORIGINAL PAPERS

Submitted: 2013-02-22

Published online: 2008-02-18

Abstract

An increased risk for the development of emphysema occurs in all carriers of deficientvariantsofAlpha-1-Antitrypsin (A1AT). A DNA polymorphism in the 3' promoter region of A1AT gene (locus Pi), which is important for a modulation of gene expression in a response to inflammation,seemstobeanadditionalgeneticriskfactor for emphysema.
In the study, we present two relatively young patients with panlobular lung emphysema associated with a normal level of A1AT in serum.
To contribute to our knowledge about a molecular basis of the pulmonary changes, the evaluation of A1AT phenotype with the use of an isoelectrofocusing of serum proteins and the analysis of DNA polymorphism in the 3' region of A1AT gene (Taq I RFLP) have been performed.
The obtained results indicate on a necessity to include procedures of A1AT phenotyping and locus Pi genotyping in both the population screening of patients and the detailed clinical diagnostics of young patients with emphysema and/or COPD.
Pneumonol. Alergol. Pol. 2005, 73, 12-17.