Mutational analysis of hemophilia B in Russia: Molecular-genetic study

Mutational analysis of hemophilia B in Russia: Molecular-genetic study 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. Russian Journal of Genetics Springer Journals

Mutational analysis of hemophilia B in Russia: Molecular-genetic study

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Pleiades Publishing
Copyright © 2016 by Pleiades Publishing, Inc.
Biomedicine; Human Genetics; Animal Genetics and Genomics; Microbial Genetics and Genomics
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