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Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations
Author(s) -
Onay U. Venüs,
Kavakli Kaan,
Kilinç Yurdanur,
Gürgey Aytemiz,
Aktuğlu Gülten,
Kemahli Sabri,
Özbek Uğur,
Çağlayan S. Hande
Publication year - 2003
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2003.04141.x
Subject(s) - haemophilia b , point mutation , haplotype , haemophilia , haemophilia a , mutation , molecular pathology , genetics , turkish , medicine , mutation testing , gene , biology , genotype , linguistics , philosophy
Summary. 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.