Show simple item record

dc.creatorLjujić, Mila
dc.creatorTopić, Aleksandra
dc.creatorNikolić, Aleksandra
dc.creatorDivac, Aleksandra
dc.creatorGrujić, Milan
dc.creatorMitić-Milikić, Marija
dc.creatorRadojković, Dragica
dc.date.accessioned2019-09-02T11:21:23Z
dc.date.available2019-09-02T11:21:23Z
dc.date.issued2010
dc.identifier.issn1415-4757
dc.identifier.urihttp://farfar.pharmacy.bg.ac.rs/handle/123456789/1383
dc.description.abstractThe 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.en
dc.publisherSoc Brasil Genetica, Ribeirao Pret
dc.relationinfo:eu-repo/grantAgreement/MESTD/MPN2006-2010/143051/RS//
dc.rightsopenAccess
dc.sourceGenetics and Molecular Biology
dc.subjectalpha-1-antitrypsinen
dc.subjectemphysemaen
dc.subjectlung canceren
dc.subjectP varianten
dc.subjectspecific trypsin inhibitory activityen
dc.titleIdentification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patientsen
dc.typearticle
dc.rights.licenseBY-NC
dcterms.abstractНиколић, Aлександра; Грујић, Милан; Митић-Миликић, Марија; Дивац, Aлександра; Топиц, Aлександра; Радојковић, Драгица; Љујић, Мила;
dc.citation.volume33
dc.citation.issue1
dc.citation.spage5
dc.citation.epage8
dc.citation.other33(1): 5-8
dc.citation.rankM23
dc.identifier.wos000275106000002
dc.identifier.doi10.1590/S1415-47572009005000100
dc.identifier.pmid21637596
dc.identifier.scopus2-s2.0-77749264644
dc.identifier.fulltexthttp://farfar.pharmacy.bg.ac.rs//bitstream/id/294/1381.pdf
dc.identifier.rcubconv_2283
dc.type.versionpublishedVersion


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record