The quantitative testing of V617F mutation in gen JAK2 using pyrosequencing technique

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.

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Издание

Журнал: Klinichescheskaya Laboratornaya Diagnostika

Выпуск журнала: Is. 11

Номера страниц: 60-63

ISSN журнала: 08692084

Авторы

  • Dunaeva E.A. (Central Research Institute of Epidemiology of Rospotrebnadzor, Moscow, Russian Federation)
  • Mironov K.O. (Central Research Institute of Epidemiology of Rospotrebnadzor, Moscow, Russian Federation)
  • Dribnohodova O.P. (Central Research Institute of Epidemiology of Rospotrebnadzor, Moscow, Russian Federation)
  • Subbotina T.N. (Siberian Federal University, Krasnoyarsk, Russian Federation, Krasnoyarsk Branch of the Hematological Research, Center of Minzdrav of Russia, Krasnoyarsk, Russian Federation)
  • Bashmakova E.E. (Siberian Federal University, Krasnoyarsk, Russian Federation)
  • Olhovskii I.A. (Krasnoyarsk Branch of the Hematological Research, Center of Minzdrav of Russia, Krasnoyarsk, Russian Federation, Krasnoyarsk Research Center, Siberian Branch, Russian Academy of Sciences, Krasnoyarsk, Russian Federation)
  • Shipulin G.A. (Central Research Institute of Epidemiology of Rospotrebnadzor, Moscow, Russian Federation)

Вхождение в базы данных

  • Scopus (цитирований 2)

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