title: Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations.
abstract: 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.
authors.affiliation: Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.
authors.forename: U Venüs
authors.initials: UV
authors.lastname: Onay
authors.forename: Kaan
authors.initials: K
authors.lastname: Kavakli
authors.forename: Yurdanur
authors.initials: Y
authors.lastname: Kilinç
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gürgey
authors.forename: Gülten
authors.initials: G
authors.lastname: Aktuğlu
authors.forename: Sabri
authors.initials: S
authors.lastname: Kemahli
authors.forename: Uğur
authors.initials: U
authors.lastname: Ozbek
authors.forename: S Hande
authors.initials: SH
authors.lastname: Cağlayan
mesh_terms: D001483:Base Sequence; D002648:Child; D005164:Factor IX / Q000235:genetics*; D017353:Gene Deletion; D006239:Haplotypes; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016415:Sequence Alignment
chemical_list: D005164:Factor IX