title: [The quantitative testing of V617F mutation in gen JAK2 using pyrosequencing technique].
abstract: 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 test mutation the pyrosequencing technique was applied. The developed technique permits detecting 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 observed 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 mautant fraction percentage from 13% to 91%. The developed technique permits implementing monitoring of therapy of myeloprolific diseases and facilitates to optimize tactics of treatment.
authors: E A
authors: EA
authors: Dunaeva
authors: K O
authors: KO
authors: Mironov
authors: T E
authors: TE
authors: Dribnokhodova
authors: E E
authors: EE
authors: Subbotina
authors: Bashmakova
authors: I A
authors: IA
authors: Ol'hovskiĭ
authors: G A
authors: GA
authors: Shipulin
mesh_terms: D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2