Mutational analysis of hemophilia B in Russia: Molecular-genetic study
- Authors: Surin V.L.1, Demidova E.Y.1, Selivanova D.S.1, Luchinina Y.A.1, Salomashkina V.V.1, Pshenichnikova O.S.1, Likhacheva E.A.1
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Affiliations:
- National Research Center for Hematology
- Issue: Vol 52, No 4 (2016)
- Pages: 409-415
- Section: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/187686
- DOI: https://doi.org/10.1134/S1022795416040116
- ID: 187686
Cite item
Abstract
Hemophilia B is a hereditary X-linked coagulation disorder. This pathology is caused by various defects in the factor IX gene, which is, being about 34 kb long and consisting of eight exons, localized in the Xq27 locus of the X-chromosome long arm. Mutations were revealed in 56 unrelated patients with hemophilia B in this study by using direct sequencing of factor IX gene functionally important fragments. Forty-six mutations were found with prevailing missense mutations (n = 30). The rest of the mutations were nonsense (n = 4) and splicing (n = 4) mutations, large deletions (n = 3), microdeletions (n = 2), microinsertions (n = 2), and promoter mutations (n = 1). Eleven of 46 mutations were previously unknown for human populations.
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About the authors
V. L. Surin
National Research Center for Hematology
Author for correspondence.
Email: vadsurin@mail.ru
Russian Federation, Moscow, 125167
E. Yu. Demidova
National Research Center for Hematology
Email: vadsurin@mail.ru
Russian Federation, Moscow, 125167
D. S. Selivanova
National Research Center for Hematology
Email: vadsurin@mail.ru
Russian Federation, Moscow, 125167
Yu. A. Luchinina
National Research Center for Hematology
Email: vadsurin@mail.ru
Russian Federation, Moscow, 125167
V. V. Salomashkina
National Research Center for Hematology
Email: vadsurin@mail.ru
Russian Federation, Moscow, 125167
O. S. Pshenichnikova
National Research Center for Hematology
Email: vadsurin@mail.ru
Russian Federation, Moscow, 125167
E. A. Likhacheva
National Research Center for Hematology
Email: vadsurin@mail.ru
Russian Federation, Moscow, 125167