Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations

Onay U., Kavakli K., Kilinc Y., Gurgey A., Aktuglu G., Kemahli S., ...Daha Fazla

BRITISH JOURNAL OF HAEMATOLOGY, cilt.120, sa.4, ss.656-659, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 120 Sayı: 4
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1046/j.1365-2141.2003.04141.x
  • Dergi Adı: BRITISH JOURNAL OF HAEMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.656-659
  • İstanbul Üniversitesi Adresli: Hayır

Özet

Heterogeneous mutations in the coagulation factor IX (FIX ) gene result in a bleeding tendency known as haemophilia B. The haemophilia B mutation database has a total of 2353 patient entries, including 10 of the estimated 1000 Turkish patients. In this study, a more comprehensive analysis of the molecular pathology of haemophilia B in Turkey revealed one large deletion and 33 point mutations in the FIX gene of 34 unrelated patients. Haplotype analysis using six polymorphic sites showed that the mutations identified in a total of 45 patients occurred on 13 different haplotypes and that each mutation was family specific.