title: Fully automated and super-rapid system for the detection of JAK2V617F mutation.
abstract: JAK2V617F is a common mutation in chronic myeloproliferative diseases (CMPDs). We have developed a system utilizing JAK2V617F-specific guanine quenching probe (QP-system) to detect JAK2V617F. With QP-system, results can be obtained from 100 microl of blood within 90 min. We compared QP-system with direct sequencing using 42 CMPD patients' specimens. JAK2V617F was detected in 25 specimens by QP-system, while direct sequencing failed to detect JAK2V617F in 7 of those 25. The presence of JAK2V617F mutation in these 7 specimens was confirmed by allele-specific PCR. These findings indicate that QP-system is more sensitive and useful than direct sequencing for diagnoses of CMPDs.
authors.affiliation: Department of Transfusion Medicine and Cell Therapy, Kyoto University Hospital, 54 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan.
authors.forename: Ruriko
authors.initials: R
authors.lastname: Tanaka
authors.forename: Junya
authors.initials: J
authors.lastname: Kuroda
authors.forename: William
authors.initials: W
authors.lastname: Stevenson
authors.forename: Eishi
authors.initials: E
authors.lastname: Ashihara
authors.forename: Takayuki
authors.initials: T
authors.lastname: Ishikawa
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Taki
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Kobayashi
authors.forename: Yuri
authors.initials: Y
authors.lastname: Kamitsuji
authors.forename: Eri
authors.initials: E
authors.lastname: Kawata
authors.forename: Miki
authors.initials: M
authors.lastname: Takeuchi
authors.forename: Yoshihide
authors.initials: Y
authors.lastname: Murotani
authors.forename: Asumi
authors.initials: A
authors.lastname: Yokota
authors.forename: Mitsuharu
authors.initials: M
authors.lastname: Hirai
authors.forename: Satoshi
authors.initials: S
authors.lastname: Majima
authors.forename: Masafumi
authors.initials: M
authors.lastname: Taniwaki
authors.forename: Taira
authors.initials: T
authors.lastname: Maekawa
authors.forename: Shinya
authors.initials: S
authors.lastname: Kimura
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001331:Automation; D002908:Chronic Disease; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009196:Myeloproliferative Disorders / Q000097:blood / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; C507924:JAK2 protein, human; D053614:Janus Kinase 2