Mutational analysis of hemophilia B in Russia: Molecular-genetic study
- Авторы: 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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Учреждения:
- National Research Center for Hematology
- Выпуск: Том 52, № 4 (2016)
- Страницы: 409-415
- Раздел: 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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Аннотация
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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V. Surin
National Research Center for Hematology
Автор, ответственный за переписку.
Email: vadsurin@mail.ru
Россия, Moscow, 125167
E. Demidova
National Research Center for Hematology
Email: vadsurin@mail.ru
Россия, Moscow, 125167
D. Selivanova
National Research Center for Hematology
Email: vadsurin@mail.ru
Россия, Moscow, 125167
Yu. Luchinina
National Research Center for Hematology
Email: vadsurin@mail.ru
Россия, Moscow, 125167
V. Salomashkina
National Research Center for Hematology
Email: vadsurin@mail.ru
Россия, Moscow, 125167
O. Pshenichnikova
National Research Center for Hematology
Email: vadsurin@mail.ru
Россия, Moscow, 125167
E. Likhacheva
National Research Center for Hematology
Email: vadsurin@mail.ru
Россия, Moscow, 125167