Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations
Makaleler > Tam Makale · 2003
Yazarlar: UV ONAY, Ramazan Kaan KAVAKLI, Y KıLıNÇ, A GURGEY, G AKTUGLU, S KEMAHLI, U OZBEK, SH CAĞLAYAN
BRITISH JOURNAL OF HAEMATOLOGY, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2003, cilt 120, ss 656-659
DOI: 10.1046/j.1365-2141.2003.04141.x
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.