Тип публикации: статья из журнала
Год издания: 2014
Ключевые слова: Chronic myeloprolific diseases, JAK2, Pyrosequencing, JAK2 protein, human, Janus kinase 2, diagnostic use, genetics, high throughput sequencing, human, mutation, Myeloproliferative Disorders, High-Throughput Nucleotide Sequencing, Humans, Janus Kinase 2, Mutation, Myeloproliferative Disorders
Аннотация: The somatic mutation V617F in gen JAK2 is a frequent cause of chronic myeloprolific diseases not conditioned by BCR/ABL mutation. The quantitative testing of relative percentage of mutant allele can be used in establishing severity of disease and its prognosis and in prescription of remedy inhibiting activity of JAK2. To quantitatively lest mutation the pyrosequencing technique was applied. The developed technique permits delecting and quantitatively testing percentage of mutation fraction since 7%. The "gray zone " is presented by samples with percentage of mutant allele from 4% to 7%. The dependence of expected percentage of mutant fraction in analyzed sample from obseiyed value of signal is described by equation of line with regression coefficients y= - 0.97, x= -1.32 and at that measurement uncertainty consists ±0.7. The developed technique is approved officially on clinical material from 192 patients with main forms of myeloprolific diseases not conditioned by BCR/ABL mutation. It was detected 64 samples with mutant fraction percentage from 13% to 91%. The developed technique permits implementing monitoring of therapy of myeloprolific diseases and facilitates to optimize tactics of treatment.
Журнал: Klinichescheskaya Laboratornaya Diagnostika
Выпуск журнала: Is. 11
Номера страниц: 60-63
ISSN журнала: 08692084
Вхождение в базы данных
- Scopus (цитирований 2)
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