Mutational analysis of hemophilia B in Russia: Molecular-genetic study
- 作者: Surin V.1, Demidova E.1, Selivanova D.1, Luchinina Y.1, Salomashkina V.1, Pshenichnikova O.1, Likhacheva E.1
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隶属关系:
- National Research Center for Hematology
- 期: 卷 52, 编号 4 (2016)
- 页面: 409-415
- 栏目: Human Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/187686
- DOI: https://doi.org/10.1134/S1022795416040116
- ID: 187686
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详细
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.
作者简介
V. Surin
National Research Center for Hematology
编辑信件的主要联系方式.
Email: vadsurin@mail.ru
俄罗斯联邦, Moscow, 125167
E. Demidova
National Research Center for Hematology
Email: vadsurin@mail.ru
俄罗斯联邦, Moscow, 125167
D. Selivanova
National Research Center for Hematology
Email: vadsurin@mail.ru
俄罗斯联邦, Moscow, 125167
Yu. Luchinina
National Research Center for Hematology
Email: vadsurin@mail.ru
俄罗斯联邦, Moscow, 125167
V. Salomashkina
National Research Center for Hematology
Email: vadsurin@mail.ru
俄罗斯联邦, Moscow, 125167
O. Pshenichnikova
National Research Center for Hematology
Email: vadsurin@mail.ru
俄罗斯联邦, Moscow, 125167
E. Likhacheva
National Research Center for Hematology
Email: vadsurin@mail.ru
俄罗斯联邦, Moscow, 125167