Fully automated and super-rapid system for the detection of JAK2V617F mutation.
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.
Tanaka
Ruriko
R
Department of Transfusion Medicine and Cell Therapy, Kyoto University Hospital, 54 Shogoin Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan.
Kuroda
Junya
J
Stevenson
William
W
Ashihara
Eishi
E
Ishikawa
Takayuki
T
Taki
Tomohiko
T
Kobayashi
Yutaka
Y
Kamitsuji
Yuri
Y
Kawata
Eri
E
Takeuchi
Miki
M
Murotani
Yoshihide
Y
Yokota
Asumi
A
Hirai
Mitsuharu
M
Majima
Satoshi
S
Taniwaki
Masafumi
M
Maekawa
Taira
T
Kimura
Shinya
S
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
D017931:DNA Primers; C507924:JAK2 protein, human; D053614:Janus Kinase 2