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Analysis of alpha-1-antytrypsin phenotypes and genotypes in patients with early-onset pulmonary emphysema
open access
Abstract
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.
Abstract
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.
Keywords
Alpha-1-antitrypsin; DNA polymorphism; genetic variability; locus Pi; pulmonary emphysema


Title
Analysis of alpha-1-antytrypsin phenotypes and genotypes in patients with early-onset pulmonary emphysema
Journal
Advances in Respiratory Medicine
Issue
Article type
Research paper
Pages
12-17
Published online
2008-02-18
Bibliographic record
Pneumonol Alergol Pol 2005;73(1-2):12-17.
Keywords
Alpha-1-antitrypsin
DNA polymorphism
genetic variability
locus Pi
pulmonary emphysema
Authors
Szymon Dworniczak
Dariusz Ziora
Leszek Konofalski
Monika Szalaty
Anna Kowalska
Jerzy Kozielski