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

DEMİR B. N., CELKAN T. T., SARPER N., Deda G., İNCE E., Caliskan U., ...Daha Fazla

BLOOD COAGULATION & FIBRINOLYSIS, cilt.27, sa.6, ss.637-644, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 6
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1097/mbc.0000000000000383
  • Dergi Adı: BLOOD COAGULATION & FIBRINOLYSIS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.637-644
  • Anahtar Kelimeler: fibrinolysis, plasminogen, plasminogen deficiency, plasminogen mutations, LIGNEOUS CONJUNCTIVITIS, PULMONARY INVOLVEMENT, COMMON-CAUSE, SYSTEM, CHILD
  • Ankara Üniversitesi Adresli: Evet

Özet

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. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.