Secondary Logo

Institutional members access full text with Ovid®

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

Dönmez-Demir, Buket; Celkan, Tiraje; Sarper, Nazan; Deda, Gülhis; İnce, Elif; Çalişkan, Ümran; Öztürk, Gülyüz; Karagün, Barbaros; Küpesiz, Alphan; Tokgöz, Hüseyin; Akar, Nejat; Özdağ, Hilal

Blood Coagulation & Fibrinolysis: September 2016 - Volume 27 - Issue 6 - p 637–644
doi: 10.1097/MBC.0000000000000383
ORIGINAL ARTICLES
Buy

The 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.

aBiotechnology Institute, Ankara University, Ankara

bDepartment of Pediatrics, İstanbul University, Cerrahpaşa Faculty of Medicine, İstanbul

cDepartment of Pediatric Hematology, Kocaeli University Faculty of Medicine, Kocaeli

dDepartment of Pediatric Neurology

eDepartment of Pediatric Hematology, Ankara University Faculty of Medicine, Ankara

fDepartment of Pediatrics, Necmettin Erbakan University Meram Faculty of Medicine, Konya

gDepartment of Pediatrics, İstanbul Faculty of Medicine, İstanbul

hDepartment of Pediatric Hematology, Çukurova University Faculty of Medicine, Adana

iDepartment of Pediatrics, Akdeniz University Faculty of Medicine

jDepartment of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey

Correspondence to Hilal Özdağ, PhD, The Institute of Biotechnology, Ankara University, Ankara, Turkey Tel: +90 312 222 58 26/126; fax: +90 312 222 58 72; e-mail: hilalozdag@gmail.com

Received 2 November, 2014

Revised 13 June, 2015

Accepted 22 June, 2015

Copyright © 2016 YEAR Wolters Kluwer Health, Inc. All rights reserved.