Developing method for allelic somatic mutations burden of Janus kinase 2 (V617F JAK2) detection in pools of venous blood samples

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Gorbenko A.S.

Krasnoyarsk branch of Hematology Research Center Ministry of Health of Russia

Stolyar M.A.

Krasnoyarsk branch of Hematology Research Center Ministry of Health of Russia;
Siberian Federal University;
Krasnoyarsk Scientific Center, Siberian Branch of RAS

Subbotina T.N.

Siberian Federal University, Krasnoyarsk, Russia;
Krasnoyarsk branch of Hematology Research Center Ministry of Health of Russia, Krasnoyarsk, Russia

Mihalev M.A.

Krasnoyarsk branch of Hematology Research Center Ministry of Health of Russia;
Krasnoyarsk State Medical University named after Professor V.F. Voino-Yasenetsky, Krasnoyarsk, Russia;
Municipal Budget Health Service Institution «City Clinical Hospital №7» Krasnoyarsk, Russia

Olkhovsky I.A.

Buryat State University, medical institute, Ulan-Ude, Russia

Developing method for allelic somatic mutations burden of Janus kinase 2 (V617F JAK2) detection in pools of venous blood samples

Authors:

Gorbenko A.S., Stolyar M.A., Subbotina T.N., Mihalev M.A., Olkhovsky I.A.

More about the authors

Journal: Laboratory Service. 2016;5(1): 19‑25

DOI: 10.17116/labs20165119-25

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Downloaded: 115

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To cite this article:

Gorbenko AS, Stolyar MA, Subbotina TN, Mihalev MA, Olkhovsky IA. Developing method for allelic somatic mutations burden of Janus kinase 2 (V617F JAK2) detection in pools of venous blood samples. Laboratory Service. 2016;5(1):19‑25. (In Russ.)
https://doi.org/10.17116/labs20165119-25

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Identification of mutations in the JAK2 gene is included in the WHO recommendations by as one of the main diagnostic criteria for chronic myeloid neoplasms. However, the prevalence of JAK2 V617F mutation among volunteers without hematologic malignancies is from 0,15% to 1,2%. At the same time there is no information on the effectiveness of molecular genetic screening studies to identify mutations V617F JAK2 when testing pooled samples. The limit of analytical sensitivity (0,06%) and close to 100% (р<0,001), specificity, as well as a high correlation with the quantitative results of a commercial kits, allows us to offer an option “in house” method in testing pools of blood samples in screening patients with clinically significant levels of the allelic burden.

Keywords:

allele-specific RT-PCR

V617F JAK2

genetic screening

Authors:

Gorbenko A.S.

Krasnoyarsk branch of Hematology Research Center Ministry of Health of Russia

Stolyar M.A.

Krasnoyarsk branch of Hematology Research Center Ministry of Health of Russia;
Siberian Federal University;
Krasnoyarsk Scientific Center, Siberian Branch of RAS

Subbotina T.N.

Siberian Federal University, Krasnoyarsk, Russia;
Krasnoyarsk branch of Hematology Research Center Ministry of Health of Russia, Krasnoyarsk, Russia

Mihalev M.A.

Krasnoyarsk branch of Hematology Research Center Ministry of Health of Russia;
Krasnoyarsk State Medical University named after Professor V.F. Voino-Yasenetsky, Krasnoyarsk, Russia;
Municipal Budget Health Service Institution «City Clinical Hospital №7» Krasnoyarsk, Russia

Olkhovsky I.A.

Buryat State University, medical institute, Ulan-Ude, Russia

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