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open access

Vol 73, No 1-2 (2005)
ORIGINAL PAPERS
Published online: 2008-02-18
Submitted: 2013-02-22
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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.

open access

Vol 73, No 1-2 (2005)
ORIGINAL PAPERS
Published online: 2008-02-18
Submitted: 2013-02-22

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.

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.

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Keywords

Alpha-1-antitrypsin; DNA polymorphism; genetic variability; locus Pi; pulmonary emphysema

About this article
Title

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

Journal

Advances in Respiratory Medicine

Issue

Vol 73, No 1-2 (2005)

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

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