Novel plasminogen gene mutations in Turkish patients with type I plasminogen deficiency

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dc.contributor.authorDonmez-Demir, Buket
dc.contributor.authorCelkan, Tiraje
dc.contributor.authorSarper, Nazan
dc.contributor.authorDeda, Gulhis
dc.contributor.authorInce, Elif
dc.contributor.authorCaliskan, Umran
dc.contributor.authorOzturk, Gulyuz
dc.date.accessioned2024-02-23T14:21:12Z
dc.date.available2024-02-23T14:21:12Z
dc.date.issued2016
dc.departmentNEÜen_US
dc.description.abstractThe plasminogen (Plg) protein is the inactive proenzyme form of plasmin that dissolves fibrin thrombi by a process called fibrinolysis. It has been shown that homozygous or compound-heterozygous deficiency of this protein is a major cause of a rare inflammatory disease affecting mainly mucous membranes found in different body sites. In this study, five individual Turkish patients and nine Turkish families with type 1 Plg deficiency were investigated for PLG gene mutations. All of the coding regions of the PLG gene mutations were screened for mutations using denaturing high-pressure liquid chromatography (DHPLC). Samples showing a different DHPLC profile were subjected to DNA sequencing analysis. Here, we described five novel mutations namely, Cys49Ter, +1 IVS6 G>A, Gly218Val, Tyr283Cys, and Gly703Asp. Previously identified five nonsynonymous (Lys38Glu, Glu180Lys, Gly420Asp, Asp453Asn, Pro763Ser), five synonymous (330 C>T, 582 C>T, 771 T>C, 1083 A>G, 2286 T>G), and a 3' untranslated region (3' UTR) mutation (c.*45 A>G) were also reported in this present study. In this study, we have identified a total of eight mutations, five of which are novel. The mutations/polymorphisms identified in eight of the patients do not explain the disease phenotype. These cases probably carry other pathological mutations (homozygous or compound heterozygous) that cannot be detected by DHPLC. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.en_US
dc.description.sponsorshipTurkish Society of Hematology [2010-2]; TUBITAKen_US
dc.description.sponsorshipThis study is supported by Turkish Society of Hematology Grant No. 2010-2. Buket Donmez-Demir was a PhD fellow supported by TUBITAK during this study.en_US
dc.identifier.doi10.1097/MBC.0000000000000383
dc.identifier.endpage644en_US
dc.identifier.issn0957-5235
dc.identifier.issn1473-5733
dc.identifier.issue6en_US
dc.identifier.pmid26340456en_US
dc.identifier.scopus2-s2.0-84944342875en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage637en_US
dc.identifier.urihttps://doi.org/10.1097/MBC.0000000000000383
dc.identifier.urihttps://hdl.handle.net/20.500.12452/13494
dc.identifier.volume27en_US
dc.identifier.wosWOS:000380807800004en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofBlood Coagulation & Fibrinolysisen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFibrinolysisen_US
dc.subjectPlasminogenen_US
dc.subjectPlasminogen Deficiencyen_US
dc.subjectPlasminogen Mutationsen_US
dc.titleNovel plasminogen gene mutations in Turkish patients with type I plasminogen deficiencyen_US
dc.typeArticleen_US

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