Fully automated and super-rapid system for the detection of JAK2V617F mutation

✍ Scribed by Ruriko Tanaka; Junya Kuroda; William Stevenson; Eishi Ashihara; Takayuki Ishikawa; Tomohiko Taki; Yutaka Kobayashi; Yuri Kamitsuji; Eri Kawata; Miki Takeuchi; Yoshihide Murotani; Asumi Yokota; Mitsuharu Hirai; Satoshi Majima; Masafumi Taniwaki; Taira Maekawa; Shinya Kimura

• Publisher: Elsevier Science
• Year: 2008
• Tongue: English
• Weight: 664 KB
• Volume: 32
• Category: Article
• ISSN: 0145-2126
• DOI: 10.1016/j.leukres.2007.12.019

✦ Synopsis

JAK2V617F is a common mutation in chronic myeloproliferative diseases (CMPDs). We have developed a system utilizing JAK2V617Fspecific guanine quenching probe (QP-system) to detect JAK2V617F. With QP-system, results can be obtained from 100 l 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.