TY  - JOUR
AU  - Ljujić, Mila
AU  - Topić, Aleksandra
AU  - Nikolić, Aleksandra
AU  - Divac, Aleksandra
AU  - Grujić, Milan
AU  - Mitić-Milikić, Marija
AU  - Radojković, Dragica
PY  - 2010
UR  - https://farfar.pharmacy.bg.ac.rs/handle/123456789/1383
AB  - The alpha-1-antitrypsin (A1AT) gene is highly polymorphic, with more than 100 genetic variants identified of which some can affect A1AT protein concentration and/or function and lead to pulmonary and/or liver disease. This study reports on the characterization of a p.G320R variant found in two patients, one with emphysema and the other with lung cancer. This variant results from a single base-pair substitution in exon 4 of the A1AT gene, and has been characterized as P by isoelectric focusing. Functional evaluation of the A1AT p.G320R variant was through comparing specific trypsin inhibitory activity in two patients with pulmonary disorders, carriers of the p.G320R variant, and 19 healthy individuals, carriers of normal A1AT M variants. Results showed that specific trypsin inhibitory activity was lower in both emphysema (2.45 mU/g) and lung cancer (2.07 mU/g) patients than in carriers of the normal variants (range 2.51-3.71 mU/g). This rare A1AT variant is associated with reduced functional activity of A1AT protein. Considering that it was found in patients with severe pulmonary disorders, this variant could be of clinical significance.
PB  - Soc Brasil Genetica, Ribeirao Pret
T2  - Genetics and Molecular Biology
T1  - Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients
VL  - 33
IS  - 1
SP  - 5
EP  - 8
DO  - 10.1590/S1415-47572009005000100
ER  - 

@article{
author = "Ljujić, Mila and Topić, Aleksandra and Nikolić, Aleksandra and Divac, Aleksandra and Grujić, Milan and Mitić-Milikić, Marija and Radojković, Dragica",
year = "2010",
abstract = "The alpha-1-antitrypsin (A1AT) gene is highly polymorphic, with more than 100 genetic variants identified of which some can affect A1AT protein concentration and/or function and lead to pulmonary and/or liver disease. This study reports on the characterization of a p.G320R variant found in two patients, one with emphysema and the other with lung cancer. This variant results from a single base-pair substitution in exon 4 of the A1AT gene, and has been characterized as P by isoelectric focusing. Functional evaluation of the A1AT p.G320R variant was through comparing specific trypsin inhibitory activity in two patients with pulmonary disorders, carriers of the p.G320R variant, and 19 healthy individuals, carriers of normal A1AT M variants. Results showed that specific trypsin inhibitory activity was lower in both emphysema (2.45 mU/g) and lung cancer (2.07 mU/g) patients than in carriers of the normal variants (range 2.51-3.71 mU/g). This rare A1AT variant is associated with reduced functional activity of A1AT protein. Considering that it was found in patients with severe pulmonary disorders, this variant could be of clinical significance.",
publisher = "Soc Brasil Genetica, Ribeirao Pret",
journal = "Genetics and Molecular Biology",
title = "Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients",
volume = "33",
number = "1",
pages = "5-8",
doi = "10.1590/S1415-47572009005000100"
}

Ljujić, M., Topić, A., Nikolić, A., Divac, A., Grujić, M., Mitić-Milikić, M.,& Radojković, D.. (2010). Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients. in Genetics and Molecular Biology
Soc Brasil Genetica, Ribeirao Pret., 33(1), 5-8.
https://doi.org/10.1590/S1415-47572009005000100

Ljujić M, Topić A, Nikolić A, Divac A, Grujić M, Mitić-Milikić M, Radojković D. Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients. in Genetics and Molecular Biology. 2010;33(1):5-8.
doi:10.1590/S1415-47572009005000100 .

Ljujić, Mila, Topić, Aleksandra, Nikolić, Aleksandra, Divac, Aleksandra, Grujić, Milan, Mitić-Milikić, Marija, Radojković, Dragica, "Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients" in Genetics and Molecular Biology, 33, no. 1 (2010):5-8,
https://doi.org/10.1590/S1415-47572009005000100 . .